Incidental Mutation 'R1775:Ppp1r12b'
| ID |
204279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r12b
|
| Ensembl Gene |
ENSMUSG00000073557 |
| Gene Name |
protein phosphatase 1, regulatory subunit 12B |
| Synonyms |
1810037O03Rik, 9530009M10Rik |
| MMRRC Submission |
039806-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.265)
|
| Stock # |
R1775 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
134682396-134883680 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 134821086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045665]
[ENSMUST00000045665]
[ENSMUST00000045665]
[ENSMUST00000045665]
[ENSMUST00000045665]
[ENSMUST00000045665]
[ENSMUST00000086444]
[ENSMUST00000086444]
[ENSMUST00000086444]
[ENSMUST00000086444]
[ENSMUST00000086444]
[ENSMUST00000086444]
[ENSMUST00000168381]
[ENSMUST00000168381]
[ENSMUST00000168381]
|
| AlphaFold |
Q8BG95 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045665
|
| SMART Domains |
Protein: ENSMUSP00000047463
Gene: ENSMUSG00000073557
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
ANK
|
56 |
86 |
8.36e1 |
SMART |
|
ANK
|
90 |
119 |
5.32e-5 |
SMART |
|
ANK
|
123 |
152 |
1.08e-5 |
SMART |
|
ANK
|
216 |
245 |
1.51e-4 |
SMART |
|
ANK
|
249 |
278 |
3.85e-2 |
SMART |
|
low complexity region
|
351 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
477 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
539 |
576 |
2.45e-5 |
PROSPERO |
|
PDB:2KJY|A
|
608 |
663 |
3e-12 |
PDB |
|
internal_repeat_3
|
729 |
766 |
2.45e-5 |
PROSPERO |
|
low complexity region
|
790 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
864 |
N/A |
INTRINSIC |
|
coiled coil region
|
867 |
974 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000045665
|
| SMART Domains |
Protein: ENSMUSP00000047463
Gene: ENSMUSG00000073557
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
ANK
|
56 |
86 |
8.36e1 |
SMART |
|
ANK
|
90 |
119 |
5.32e-5 |
SMART |
|
ANK
|
123 |
152 |
1.08e-5 |
SMART |
|
ANK
|
216 |
245 |
1.51e-4 |
SMART |
|
ANK
|
249 |
278 |
3.85e-2 |
SMART |
|
low complexity region
|
351 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
477 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
539 |
576 |
2.45e-5 |
PROSPERO |
|
PDB:2KJY|A
|
608 |
663 |
3e-12 |
PDB |
|
internal_repeat_3
|
729 |
766 |
2.45e-5 |
PROSPERO |
|
low complexity region
|
790 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
864 |
N/A |
INTRINSIC |
|
coiled coil region
|
867 |
974 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000045665
|
| SMART Domains |
Protein: ENSMUSP00000047463
Gene: ENSMUSG00000073557
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
ANK
|
56 |
86 |
8.36e1 |
SMART |
|
ANK
|
90 |
119 |
5.32e-5 |
SMART |
|
ANK
|
123 |
152 |
1.08e-5 |
SMART |
|
ANK
|
216 |
245 |
1.51e-4 |
SMART |
|
ANK
|
249 |
278 |
3.85e-2 |
SMART |
|
low complexity region
|
351 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
477 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
539 |
576 |
2.45e-5 |
PROSPERO |
|
PDB:2KJY|A
|
608 |
663 |
3e-12 |
PDB |
|
internal_repeat_3
|
729 |
766 |
2.45e-5 |
PROSPERO |
|
low complexity region
|
790 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
864 |
N/A |
INTRINSIC |
|
coiled coil region
|
867 |
974 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000045665
|
| SMART Domains |
Protein: ENSMUSP00000047463
Gene: ENSMUSG00000073557
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
ANK
|
56 |
86 |
8.36e1 |
SMART |
|
ANK
|
90 |
119 |
5.32e-5 |
SMART |
|
ANK
|
123 |
152 |
1.08e-5 |
SMART |
|
ANK
|
216 |
245 |
1.51e-4 |
SMART |
|
ANK
|
249 |
278 |
3.85e-2 |
SMART |
|
low complexity region
|
351 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
477 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
539 |
576 |
2.45e-5 |
PROSPERO |
|
PDB:2KJY|A
|
608 |
663 |
3e-12 |
PDB |
|
internal_repeat_3
|
729 |
766 |
2.45e-5 |
PROSPERO |
|
low complexity region
|
790 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
864 |
N/A |
INTRINSIC |
|
coiled coil region
|
867 |
974 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000045665
|
| SMART Domains |
Protein: ENSMUSP00000047463
Gene: ENSMUSG00000073557
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
ANK
|
56 |
86 |
8.36e1 |
SMART |
|
ANK
|
90 |
119 |
5.32e-5 |
SMART |
|
ANK
|
123 |
152 |
1.08e-5 |
SMART |
|
ANK
|
216 |
245 |
1.51e-4 |
SMART |
|
ANK
|
249 |
278 |
3.85e-2 |
SMART |
|
low complexity region
|
351 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
477 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
539 |
576 |
2.45e-5 |
PROSPERO |
|
PDB:2KJY|A
|
608 |
663 |
3e-12 |
PDB |
|
internal_repeat_3
|
729 |
766 |
2.45e-5 |
PROSPERO |
|
low complexity region
|
790 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
864 |
N/A |
INTRINSIC |
|
coiled coil region
|
867 |
974 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000045665
|
| SMART Domains |
Protein: ENSMUSP00000047463
Gene: ENSMUSG00000073557
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
ANK
|
56 |
86 |
8.36e1 |
SMART |
|
ANK
|
90 |
119 |
5.32e-5 |
SMART |
|
ANK
|
123 |
152 |
1.08e-5 |
SMART |
|
ANK
|
216 |
245 |
1.51e-4 |
SMART |
|
ANK
|
249 |
278 |
3.85e-2 |
SMART |
|
low complexity region
|
351 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
477 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
539 |
576 |
2.45e-5 |
PROSPERO |
|
PDB:2KJY|A
|
608 |
663 |
3e-12 |
PDB |
|
internal_repeat_3
|
729 |
766 |
2.45e-5 |
PROSPERO |
|
low complexity region
|
790 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
864 |
N/A |
INTRINSIC |
|
coiled coil region
|
867 |
974 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000086444
|
| SMART Domains |
Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
ANK
|
56 |
86 |
8.36e1 |
SMART |
|
ANK
|
90 |
119 |
5.32e-5 |
SMART |
|
ANK
|
123 |
152 |
1.08e-5 |
SMART |
|
ANK
|
216 |
245 |
1.51e-4 |
SMART |
|
ANK
|
249 |
278 |
3.85e-2 |
SMART |
|
low complexity region
|
351 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
477 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
539 |
576 |
1.9e-5 |
PROSPERO |
|
PDB:2KJY|A
|
608 |
663 |
3e-12 |
PDB |
|
internal_repeat_3
|
729 |
766 |
1.9e-5 |
PROSPERO |
|
low complexity region
|
790 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
864 |
N/A |
INTRINSIC |
|
Pfam:PRKG1_interact
|
875 |
982 |
4.6e-31 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000086444
|
| SMART Domains |
Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
ANK
|
56 |
86 |
8.36e1 |
SMART |
|
ANK
|
90 |
119 |
5.32e-5 |
SMART |
|
ANK
|
123 |
152 |
1.08e-5 |
SMART |
|
ANK
|
216 |
245 |
1.51e-4 |
SMART |
|
ANK
|
249 |
278 |
3.85e-2 |
SMART |
|
low complexity region
|
351 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
477 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
539 |
576 |
1.9e-5 |
PROSPERO |
|
PDB:2KJY|A
|
608 |
663 |
3e-12 |
PDB |
|
internal_repeat_3
|
729 |
766 |
1.9e-5 |
PROSPERO |
|
low complexity region
|
790 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
864 |
N/A |
INTRINSIC |
|
Pfam:PRKG1_interact
|
875 |
982 |
4.6e-31 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000086444
|
| SMART Domains |
Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
ANK
|
56 |
86 |
8.36e1 |
SMART |
|
ANK
|
90 |
119 |
5.32e-5 |
SMART |
|
ANK
|
123 |
152 |
1.08e-5 |
SMART |
|
ANK
|
216 |
245 |
1.51e-4 |
SMART |
|
ANK
|
249 |
278 |
3.85e-2 |
SMART |
|
low complexity region
|
351 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
477 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
539 |
576 |
1.9e-5 |
PROSPERO |
|
PDB:2KJY|A
|
608 |
663 |
3e-12 |
PDB |
|
internal_repeat_3
|
729 |
766 |
1.9e-5 |
PROSPERO |
|
low complexity region
|
790 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
864 |
N/A |
INTRINSIC |
|
Pfam:PRKG1_interact
|
875 |
982 |
4.6e-31 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000086444
|
| SMART Domains |
Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
ANK
|
56 |
86 |
8.36e1 |
SMART |
|
ANK
|
90 |
119 |
5.32e-5 |
SMART |
|
ANK
|
123 |
152 |
1.08e-5 |
SMART |
|
ANK
|
216 |
245 |
1.51e-4 |
SMART |
|
ANK
|
249 |
278 |
3.85e-2 |
SMART |
|
low complexity region
|
351 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
477 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
539 |
576 |
1.9e-5 |
PROSPERO |
|
PDB:2KJY|A
|
608 |
663 |
3e-12 |
PDB |
|
internal_repeat_3
|
729 |
766 |
1.9e-5 |
PROSPERO |
|
low complexity region
|
790 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
864 |
N/A |
INTRINSIC |
|
Pfam:PRKG1_interact
|
875 |
982 |
4.6e-31 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000086444
|
| SMART Domains |
Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
ANK
|
56 |
86 |
8.36e1 |
SMART |
|
ANK
|
90 |
119 |
5.32e-5 |
SMART |
|
ANK
|
123 |
152 |
1.08e-5 |
SMART |
|
ANK
|
216 |
245 |
1.51e-4 |
SMART |
|
ANK
|
249 |
278 |
3.85e-2 |
SMART |
|
low complexity region
|
351 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
477 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
539 |
576 |
1.9e-5 |
PROSPERO |
|
PDB:2KJY|A
|
608 |
663 |
3e-12 |
PDB |
|
internal_repeat_3
|
729 |
766 |
1.9e-5 |
PROSPERO |
|
low complexity region
|
790 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
864 |
N/A |
INTRINSIC |
|
Pfam:PRKG1_interact
|
875 |
982 |
4.6e-31 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000086444
|
| SMART Domains |
Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
ANK
|
56 |
86 |
8.36e1 |
SMART |
|
ANK
|
90 |
119 |
5.32e-5 |
SMART |
|
ANK
|
123 |
152 |
1.08e-5 |
SMART |
|
ANK
|
216 |
245 |
1.51e-4 |
SMART |
|
ANK
|
249 |
278 |
3.85e-2 |
SMART |
|
low complexity region
|
351 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
477 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
539 |
576 |
1.9e-5 |
PROSPERO |
|
PDB:2KJY|A
|
608 |
663 |
3e-12 |
PDB |
|
internal_repeat_3
|
729 |
766 |
1.9e-5 |
PROSPERO |
|
low complexity region
|
790 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
864 |
N/A |
INTRINSIC |
|
Pfam:PRKG1_interact
|
875 |
982 |
4.6e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132025
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000168381
|
| SMART Domains |
Protein: ENSMUSP00000131406
Gene: ENSMUSG00000073557
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
ANK
|
56 |
86 |
8.36e1 |
SMART |
|
ANK
|
90 |
119 |
5.32e-5 |
SMART |
|
ANK
|
123 |
152 |
1.08e-5 |
SMART |
|
ANK
|
216 |
245 |
1.51e-4 |
SMART |
|
ANK
|
249 |
278 |
3.85e-2 |
SMART |
|
low complexity region
|
351 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
477 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
539 |
576 |
1.9e-5 |
PROSPERO |
|
PDB:2KJY|A
|
608 |
663 |
3e-12 |
PDB |
|
internal_repeat_3
|
729 |
766 |
1.9e-5 |
PROSPERO |
|
low complexity region
|
790 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
864 |
N/A |
INTRINSIC |
|
coiled coil region
|
867 |
986 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000168381
|
| SMART Domains |
Protein: ENSMUSP00000131406
Gene: ENSMUSG00000073557
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
ANK
|
56 |
86 |
8.36e1 |
SMART |
|
ANK
|
90 |
119 |
5.32e-5 |
SMART |
|
ANK
|
123 |
152 |
1.08e-5 |
SMART |
|
ANK
|
216 |
245 |
1.51e-4 |
SMART |
|
ANK
|
249 |
278 |
3.85e-2 |
SMART |
|
low complexity region
|
351 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
477 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
539 |
576 |
1.9e-5 |
PROSPERO |
|
PDB:2KJY|A
|
608 |
663 |
3e-12 |
PDB |
|
internal_repeat_3
|
729 |
766 |
1.9e-5 |
PROSPERO |
|
low complexity region
|
790 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
864 |
N/A |
INTRINSIC |
|
coiled coil region
|
867 |
986 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000168381
|
| SMART Domains |
Protein: ENSMUSP00000131406
Gene: ENSMUSG00000073557
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
ANK
|
56 |
86 |
8.36e1 |
SMART |
|
ANK
|
90 |
119 |
5.32e-5 |
SMART |
|
ANK
|
123 |
152 |
1.08e-5 |
SMART |
|
ANK
|
216 |
245 |
1.51e-4 |
SMART |
|
ANK
|
249 |
278 |
3.85e-2 |
SMART |
|
low complexity region
|
351 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
477 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
539 |
576 |
1.9e-5 |
PROSPERO |
|
PDB:2KJY|A
|
608 |
663 |
3e-12 |
PDB |
|
internal_repeat_3
|
729 |
766 |
1.9e-5 |
PROSPERO |
|
low complexity region
|
790 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
864 |
N/A |
INTRINSIC |
|
coiled coil region
|
867 |
986 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9499 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.5%
- 20x: 92.9%
|
| Validation Efficiency |
98% (95/97) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J04Rik |
A |
G |
12: 11,272,143 (GRCm39) |
S20P |
unknown |
Het |
| 4921528I07Rik |
G |
A |
9: 114,108,386 (GRCm39) |
|
noncoding transcript |
Het |
| 4930562C15Rik |
G |
A |
16: 4,669,422 (GRCm39) |
|
probably null |
Het |
| 4933427I04Rik |
A |
G |
4: 123,754,286 (GRCm39) |
T67A |
possibly damaging |
Het |
| Abcc2 |
A |
T |
19: 43,786,858 (GRCm39) |
N160Y |
possibly damaging |
Het |
| Acaca |
A |
G |
11: 84,191,248 (GRCm39) |
D155G |
possibly damaging |
Het |
| Afg3l1 |
G |
A |
8: 124,219,639 (GRCm39) |
R389Q |
possibly damaging |
Het |
| Ank2 |
G |
A |
3: 126,728,196 (GRCm39) |
T799M |
probably benign |
Het |
| Anxa2 |
T |
C |
9: 69,395,363 (GRCm39) |
Y202H |
possibly damaging |
Het |
| Arhgef33 |
A |
G |
17: 80,681,172 (GRCm39) |
T771A |
probably benign |
Het |
| Atp12a |
T |
C |
14: 56,610,046 (GRCm39) |
V182A |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,919,281 (GRCm39) |
L210S |
probably damaging |
Het |
| Car3 |
A |
G |
3: 14,929,492 (GRCm39) |
T73A |
probably benign |
Het |
| Cd5l |
T |
C |
3: 87,275,966 (GRCm39) |
L312P |
probably damaging |
Het |
| Celf5 |
A |
G |
10: 81,303,138 (GRCm39) |
|
probably benign |
Het |
| Cep290 |
T |
A |
10: 100,332,672 (GRCm39) |
V257E |
probably damaging |
Het |
| Cntrob |
T |
C |
11: 69,211,693 (GRCm39) |
D177G |
possibly damaging |
Het |
| Copg2 |
A |
T |
6: 30,787,271 (GRCm39) |
F658I |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,763,135 (GRCm39) |
T1234A |
probably damaging |
Het |
| Dhx35 |
A |
G |
2: 158,648,357 (GRCm39) |
T72A |
probably damaging |
Het |
| Dmrtc2 |
A |
T |
7: 24,573,792 (GRCm39) |
H209L |
possibly damaging |
Het |
| Eml5 |
G |
T |
12: 98,818,963 (GRCm39) |
|
probably null |
Het |
| Evpl |
T |
C |
11: 116,114,486 (GRCm39) |
E1068G |
possibly damaging |
Het |
| Ezh2 |
A |
G |
6: 47,553,594 (GRCm39) |
M41T |
probably damaging |
Het |
| Fmo3 |
A |
G |
1: 162,796,294 (GRCm39) |
S93P |
possibly damaging |
Het |
| Gdi2 |
A |
G |
13: 3,610,018 (GRCm39) |
Y213C |
possibly damaging |
Het |
| Gpr15 |
A |
T |
16: 58,538,921 (GRCm39) |
I56K |
probably benign |
Het |
| Gria2 |
G |
T |
3: 80,598,645 (GRCm39) |
S796R |
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,429,254 (GRCm39) |
|
probably benign |
Het |
| Hgfac |
T |
C |
5: 35,200,194 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,247,467 (GRCm39) |
R1200W |
probably damaging |
Het |
| Ift52 |
G |
A |
2: 162,867,275 (GRCm39) |
D78N |
possibly damaging |
Het |
| Iqca1 |
C |
A |
1: 90,009,138 (GRCm39) |
W415L |
probably damaging |
Het |
| Ism1 |
A |
T |
2: 139,587,963 (GRCm39) |
K236N |
probably damaging |
Het |
| Itgb6 |
C |
T |
2: 60,502,988 (GRCm39) |
W43* |
probably null |
Het |
| Kcnk18 |
T |
A |
19: 59,223,773 (GRCm39) |
I306N |
probably damaging |
Het |
| Kctd8 |
T |
C |
5: 69,497,903 (GRCm39) |
K248E |
probably damaging |
Het |
| Layn |
T |
A |
9: 50,970,833 (GRCm39) |
I237F |
probably benign |
Het |
| Lce3f |
C |
T |
3: 92,900,248 (GRCm39) |
P23L |
unknown |
Het |
| Lct |
A |
G |
1: 128,228,038 (GRCm39) |
F1152L |
probably damaging |
Het |
| Mettl25b |
A |
G |
3: 87,831,124 (GRCm39) |
S404P |
probably damaging |
Het |
| Mxra8 |
T |
C |
4: 155,927,531 (GRCm39) |
I413T |
probably damaging |
Het |
| Nedd9 |
A |
G |
13: 41,471,438 (GRCm39) |
V187A |
probably benign |
Het |
| Net1 |
A |
G |
13: 3,937,642 (GRCm39) |
L207P |
probably damaging |
Het |
| Neurod1 |
G |
T |
2: 79,284,781 (GRCm39) |
P201T |
probably benign |
Het |
| Nlrp1b |
A |
G |
11: 71,052,647 (GRCm39) |
F927S |
probably damaging |
Het |
| Ntrk3 |
T |
A |
7: 78,005,789 (GRCm39) |
H524L |
possibly damaging |
Het |
| Nup98 |
A |
C |
7: 101,784,144 (GRCm39) |
S1063A |
probably benign |
Het |
| Or10ak11 |
T |
A |
4: 118,687,065 (GRCm39) |
M191L |
probably benign |
Het |
| Or11h4b |
G |
T |
14: 50,918,623 (GRCm39) |
P156Q |
possibly damaging |
Het |
| Or56b1 |
G |
A |
7: 104,285,366 (GRCm39) |
V162I |
probably benign |
Het |
| Or5b97 |
C |
A |
19: 12,878,599 (GRCm39) |
V182F |
probably benign |
Het |
| Or5m9b |
G |
A |
2: 85,905,104 (GRCm39) |
V7I |
possibly damaging |
Het |
| Or6d15 |
T |
C |
6: 116,559,925 (GRCm39) |
|
probably benign |
Het |
| Pdzd2 |
G |
A |
15: 12,592,546 (GRCm39) |
R33W |
probably damaging |
Het |
| Phf21a |
G |
A |
2: 92,160,860 (GRCm39) |
V243I |
probably damaging |
Het |
| Rexo5 |
T |
C |
7: 119,444,634 (GRCm39) |
V703A |
probably benign |
Het |
| Rgs4 |
A |
G |
1: 169,572,847 (GRCm39) |
S30P |
probably benign |
Het |
| Rxra |
C |
A |
2: 27,646,256 (GRCm39) |
D340E |
probably damaging |
Het |
| Samhd1 |
A |
G |
2: 156,949,467 (GRCm39) |
V473A |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,302,686 (GRCm39) |
K1253N |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,511,299 (GRCm39) |
N1207S |
probably benign |
Het |
| Sec24d |
T |
A |
3: 123,130,166 (GRCm39) |
I443N |
probably damaging |
Het |
| Sema4g |
T |
A |
19: 44,987,681 (GRCm39) |
|
probably null |
Het |
| Sema5b |
A |
G |
16: 35,480,694 (GRCm39) |
K787R |
probably benign |
Het |
| Serpinc1 |
A |
G |
1: 160,817,217 (GRCm39) |
N104D |
probably benign |
Het |
| Sfn |
T |
C |
4: 133,328,542 (GRCm39) |
H180R |
probably damaging |
Het |
| Slc22a6 |
G |
T |
19: 8,596,471 (GRCm39) |
|
probably null |
Het |
| Slc9a8 |
T |
C |
2: 167,299,278 (GRCm39) |
S217P |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,359,270 (GRCm39) |
N965D |
probably benign |
Het |
| Sod2 |
T |
A |
17: 13,233,919 (GRCm39) |
I177N |
probably damaging |
Het |
| Sp4 |
A |
T |
12: 118,263,335 (GRCm39) |
I237K |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 165,921,532 (GRCm39) |
K697R |
probably benign |
Het |
| Svs4 |
A |
T |
2: 164,119,005 (GRCm39) |
D110E |
unknown |
Het |
| Tas1r1 |
T |
A |
4: 152,122,675 (GRCm39) |
R57* |
probably null |
Het |
| Tlr5 |
T |
C |
1: 182,801,287 (GRCm39) |
I197T |
probably damaging |
Het |
| Tmc3 |
T |
C |
7: 83,261,740 (GRCm39) |
V606A |
probably benign |
Het |
| Tmem241 |
T |
A |
18: 12,251,469 (GRCm39) |
L37F |
probably damaging |
Het |
| Tmem59l |
A |
T |
8: 70,938,903 (GRCm39) |
N90K |
probably damaging |
Het |
| Tram1 |
A |
C |
1: 13,646,680 (GRCm39) |
|
probably benign |
Het |
| Trim15 |
T |
A |
17: 37,176,061 (GRCm39) |
H162L |
probably benign |
Het |
| Ttc28 |
T |
A |
5: 111,424,677 (GRCm39) |
Y1501N |
probably benign |
Het |
| Ttc34 |
T |
C |
4: 154,946,671 (GRCm39) |
V857A |
probably benign |
Het |
| Tulp4 |
A |
G |
17: 6,189,321 (GRCm39) |
T48A |
probably damaging |
Het |
| Usp9y |
T |
C |
Y: 1,368,089 (GRCm39) |
E939G |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,606,670 (GRCm39) |
I1634T |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,378 (GRCm39) |
M729V |
probably benign |
Het |
| Vps13c |
C |
T |
9: 67,788,729 (GRCm39) |
T334M |
probably damaging |
Het |
| Wnk4 |
C |
G |
11: 101,167,166 (GRCm39) |
|
probably benign |
Het |
| Xpo1 |
A |
G |
11: 23,221,193 (GRCm39) |
N97D |
probably benign |
Het |
| Xpo4 |
A |
T |
14: 57,841,129 (GRCm39) |
F518Y |
probably benign |
Het |
| Zfp668 |
C |
T |
7: 127,465,778 (GRCm39) |
V469I |
possibly damaging |
Het |
| Zfp85 |
C |
A |
13: 67,897,823 (GRCm39) |
C83F |
probably damaging |
Het |
|
| Other mutations in Ppp1r12b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01358:Ppp1r12b
|
APN |
1 |
134,819,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01788:Ppp1r12b
|
APN |
1 |
134,821,245 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL01880:Ppp1r12b
|
APN |
1 |
134,814,159 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02109:Ppp1r12b
|
APN |
1 |
134,800,543 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02247:Ppp1r12b
|
APN |
1 |
134,763,721 (GRCm39) |
missense |
probably benign |
|
|
IGL02336:Ppp1r12b
|
APN |
1 |
134,814,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02903:Ppp1r12b
|
APN |
1 |
134,883,387 (GRCm39) |
missense |
probably benign |
|
|
IGL02963:Ppp1r12b
|
APN |
1 |
134,814,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03074:Ppp1r12b
|
APN |
1 |
134,763,758 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03302:Ppp1r12b
|
APN |
1 |
134,765,788 (GRCm39) |
splice site |
probably benign |
|
|
R0102:Ppp1r12b
|
UTSW |
1 |
134,763,637 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0102:Ppp1r12b
|
UTSW |
1 |
134,763,637 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0189:Ppp1r12b
|
UTSW |
1 |
134,793,514 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0556:Ppp1r12b
|
UTSW |
1 |
134,705,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0594:Ppp1r12b
|
UTSW |
1 |
134,704,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0690:Ppp1r12b
|
UTSW |
1 |
134,803,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1354:Ppp1r12b
|
UTSW |
1 |
134,763,721 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1676:Ppp1r12b
|
UTSW |
1 |
134,705,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1839:Ppp1r12b
|
UTSW |
1 |
134,765,719 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1946:Ppp1r12b
|
UTSW |
1 |
134,820,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1971:Ppp1r12b
|
UTSW |
1 |
134,793,651 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1997:Ppp1r12b
|
UTSW |
1 |
134,774,093 (GRCm39) |
intron |
probably benign |
|
|
R3110:Ppp1r12b
|
UTSW |
1 |
134,800,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3112:Ppp1r12b
|
UTSW |
1 |
134,800,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3908:Ppp1r12b
|
UTSW |
1 |
134,770,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3912:Ppp1r12b
|
UTSW |
1 |
134,815,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3977:Ppp1r12b
|
UTSW |
1 |
134,693,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4243:Ppp1r12b
|
UTSW |
1 |
134,709,846 (GRCm39) |
intron |
probably benign |
|
|
R4835:Ppp1r12b
|
UTSW |
1 |
134,883,471 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4836:Ppp1r12b
|
UTSW |
1 |
134,883,471 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4843:Ppp1r12b
|
UTSW |
1 |
134,883,471 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4854:Ppp1r12b
|
UTSW |
1 |
134,801,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4870:Ppp1r12b
|
UTSW |
1 |
134,876,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4881:Ppp1r12b
|
UTSW |
1 |
134,883,471 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5024:Ppp1r12b
|
UTSW |
1 |
134,883,471 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5054:Ppp1r12b
|
UTSW |
1 |
134,883,471 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5055:Ppp1r12b
|
UTSW |
1 |
134,883,471 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5056:Ppp1r12b
|
UTSW |
1 |
134,883,471 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5056:Ppp1r12b
|
UTSW |
1 |
134,762,130 (GRCm39) |
intron |
probably benign |
|
|
R5158:Ppp1r12b
|
UTSW |
1 |
134,814,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5599:Ppp1r12b
|
UTSW |
1 |
134,793,645 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5771:Ppp1r12b
|
UTSW |
1 |
134,701,162 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5775:Ppp1r12b
|
UTSW |
1 |
134,803,780 (GRCm39) |
missense |
probably benign |
|
|
R5872:Ppp1r12b
|
UTSW |
1 |
134,704,144 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5896:Ppp1r12b
|
UTSW |
1 |
134,693,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6060:Ppp1r12b
|
UTSW |
1 |
134,883,262 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6129:Ppp1r12b
|
UTSW |
1 |
134,819,990 (GRCm39) |
nonsense |
probably null |
|
|
R6369:Ppp1r12b
|
UTSW |
1 |
134,814,280 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6868:Ppp1r12b
|
UTSW |
1 |
134,814,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7681:Ppp1r12b
|
UTSW |
1 |
134,793,673 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7940:Ppp1r12b
|
UTSW |
1 |
134,803,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8057:Ppp1r12b
|
UTSW |
1 |
134,883,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8070:Ppp1r12b
|
UTSW |
1 |
134,803,807 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8134:Ppp1r12b
|
UTSW |
1 |
134,814,280 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8147:Ppp1r12b
|
UTSW |
1 |
134,801,680 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8224:Ppp1r12b
|
UTSW |
1 |
134,830,200 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8270:Ppp1r12b
|
UTSW |
1 |
134,803,886 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8304:Ppp1r12b
|
UTSW |
1 |
134,824,101 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8803:Ppp1r12b
|
UTSW |
1 |
134,818,492 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8826:Ppp1r12b
|
UTSW |
1 |
134,693,730 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8954:Ppp1r12b
|
UTSW |
1 |
134,762,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9081:Ppp1r12b
|
UTSW |
1 |
134,705,085 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9171:Ppp1r12b
|
UTSW |
1 |
134,801,725 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9223:Ppp1r12b
|
UTSW |
1 |
134,807,376 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9521:Ppp1r12b
|
UTSW |
1 |
134,705,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9609:Ppp1r12b
|
UTSW |
1 |
134,824,084 (GRCm39) |
nonsense |
probably null |
|
|
X0022:Ppp1r12b
|
UTSW |
1 |
134,763,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0027:Ppp1r12b
|
UTSW |
1 |
134,824,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1187:Ppp1r12b
|
UTSW |
1 |
134,883,262 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1189:Ppp1r12b
|
UTSW |
1 |
134,883,262 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1190:Ppp1r12b
|
UTSW |
1 |
134,883,262 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1192:Ppp1r12b
|
UTSW |
1 |
134,883,262 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGTCTCTGTGCCTCAAG -3'
(R):5'- GGCAGAACTTTAGTAACGCTG -3'
Sequencing Primer
(F):5'- GTGCCTCAAGTCTACCTAACATC -3'
(R):5'- GGCAGAACTTTAGTAACGCTGCTTTC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation