Incidental Mutation 'R4950:Ptprd'
| ID |
381907 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprd
|
| Ensembl Gene |
ENSMUSG00000028399 |
| Gene Name |
protein tyrosine phosphatase, receptor type, D |
| Synonyms |
1110002J03Rik, 3000002J10Rik, B230219D21Rik |
| MMRRC Submission |
042547-MU
|
| Accession Numbers |
Ncbi RefSeq: NM_001014288.2, NM_011211.2; MGI:97812
|
| Is this an essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4950 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
75941238-78211961 bp(-) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 76140515 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050757]
[ENSMUST00000050757]
[ENSMUST00000098005]
[ENSMUST00000098005]
[ENSMUST00000107289]
[ENSMUST00000107289]
[ENSMUST00000173376]
[ENSMUST00000174023]
[ENSMUST00000174023]
[ENSMUST00000174180]
[ENSMUST00000174180]
[ENSMUST00000174531]
[ENSMUST00000174531]
[ENSMUST00000174831]
[ENSMUST00000174831]
|
| AlphaFold |
Q64487 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000050757
|
| SMART Domains |
Protein: ENSMUSP00000058466
Gene: ENSMUSG00000028399
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
|
IGc2
|
138 |
208 |
1.38e-15 |
SMART |
|
IGc2
|
238 |
299 |
8.13e-4 |
SMART |
|
FN3
|
313 |
392 |
7.92e-14 |
SMART |
|
FN3
|
408 |
491 |
5.73e-11 |
SMART |
|
IG_like
|
499 |
593 |
8.34e1 |
SMART |
|
FN3
|
506 |
584 |
9.1e-14 |
SMART |
|
FN3
|
597 |
674 |
1.21e0 |
SMART |
|
transmembrane domain
|
847 |
869 |
N/A |
INTRINSIC |
|
low complexity region
|
870 |
882 |
N/A |
INTRINSIC |
|
PTPc
|
949 |
1207 |
6.38e-134 |
SMART |
|
PTPc
|
1236 |
1498 |
9.17e-135 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000050757
|
| SMART Domains |
Protein: ENSMUSP00000058466
Gene: ENSMUSG00000028399
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
|
IGc2
|
138 |
208 |
1.38e-15 |
SMART |
|
IGc2
|
238 |
299 |
8.13e-4 |
SMART |
|
FN3
|
313 |
392 |
7.92e-14 |
SMART |
|
FN3
|
408 |
491 |
5.73e-11 |
SMART |
|
IG_like
|
499 |
593 |
8.34e1 |
SMART |
|
FN3
|
506 |
584 |
9.1e-14 |
SMART |
|
FN3
|
597 |
674 |
1.21e0 |
SMART |
|
transmembrane domain
|
847 |
869 |
N/A |
INTRINSIC |
|
low complexity region
|
870 |
882 |
N/A |
INTRINSIC |
|
PTPc
|
949 |
1207 |
6.38e-134 |
SMART |
|
PTPc
|
1236 |
1498 |
9.17e-135 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000084467
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000098005
|
| SMART Domains |
Protein: ENSMUSP00000095614
Gene: ENSMUSG00000028399
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
|
IGc2
|
138 |
214 |
8.5e-16 |
SMART |
|
low complexity region
|
225 |
237 |
N/A |
INTRINSIC |
|
IGc2
|
248 |
309 |
8.13e-4 |
SMART |
|
FN3
|
323 |
402 |
7.92e-14 |
SMART |
|
FN3
|
418 |
501 |
5.73e-11 |
SMART |
|
IG_like
|
509 |
603 |
8.34e1 |
SMART |
|
FN3
|
516 |
594 |
9.1e-14 |
SMART |
|
FN3
|
607 |
684 |
1.21e0 |
SMART |
|
transmembrane domain
|
857 |
879 |
N/A |
INTRINSIC |
|
low complexity region
|
886 |
897 |
N/A |
INTRINSIC |
|
PTPc
|
950 |
1208 |
6.38e-134 |
SMART |
|
PTPc
|
1237 |
1499 |
9.17e-135 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000098005
|
| SMART Domains |
Protein: ENSMUSP00000095614
Gene: ENSMUSG00000028399
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
|
IGc2
|
138 |
214 |
8.5e-16 |
SMART |
|
low complexity region
|
225 |
237 |
N/A |
INTRINSIC |
|
IGc2
|
248 |
309 |
8.13e-4 |
SMART |
|
FN3
|
323 |
402 |
7.92e-14 |
SMART |
|
FN3
|
418 |
501 |
5.73e-11 |
SMART |
|
IG_like
|
509 |
603 |
8.34e1 |
SMART |
|
FN3
|
516 |
594 |
9.1e-14 |
SMART |
|
FN3
|
607 |
684 |
1.21e0 |
SMART |
|
transmembrane domain
|
857 |
879 |
N/A |
INTRINSIC |
|
low complexity region
|
886 |
897 |
N/A |
INTRINSIC |
|
PTPc
|
950 |
1208 |
6.38e-134 |
SMART |
|
PTPc
|
1237 |
1499 |
9.17e-135 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000107287
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107289
|
| SMART Domains |
Protein: ENSMUSP00000102910
Gene: ENSMUSG00000028399
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
|
IGc2
|
138 |
214 |
8.5e-16 |
SMART |
|
low complexity region
|
225 |
237 |
N/A |
INTRINSIC |
|
IGc2
|
248 |
309 |
8.13e-4 |
SMART |
|
FN3
|
323 |
402 |
7.92e-14 |
SMART |
|
FN3
|
418 |
501 |
5.73e-11 |
SMART |
|
IG_like
|
509 |
603 |
8.34e1 |
SMART |
|
FN3
|
516 |
594 |
9.1e-14 |
SMART |
|
FN3
|
609 |
696 |
2.72e-12 |
SMART |
|
FN3
|
712 |
809 |
2.87e-11 |
SMART |
|
FN3
|
824 |
904 |
4.96e-6 |
SMART |
|
FN3
|
919 |
1003 |
4.12e-12 |
SMART |
|
FN3
|
1018 |
1095 |
1.95e0 |
SMART |
|
transmembrane domain
|
1268 |
1290 |
N/A |
INTRINSIC |
|
low complexity region
|
1291 |
1303 |
N/A |
INTRINSIC |
|
PTPc
|
1356 |
1614 |
6.38e-134 |
SMART |
|
PTPc
|
1643 |
1905 |
9.17e-135 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107289
|
| SMART Domains |
Protein: ENSMUSP00000102910
Gene: ENSMUSG00000028399
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
|
IGc2
|
138 |
214 |
8.5e-16 |
SMART |
|
low complexity region
|
225 |
237 |
N/A |
INTRINSIC |
|
IGc2
|
248 |
309 |
8.13e-4 |
SMART |
|
FN3
|
323 |
402 |
7.92e-14 |
SMART |
|
FN3
|
418 |
501 |
5.73e-11 |
SMART |
|
IG_like
|
509 |
603 |
8.34e1 |
SMART |
|
FN3
|
516 |
594 |
9.1e-14 |
SMART |
|
FN3
|
609 |
696 |
2.72e-12 |
SMART |
|
FN3
|
712 |
809 |
2.87e-11 |
SMART |
|
FN3
|
824 |
904 |
4.96e-6 |
SMART |
|
FN3
|
919 |
1003 |
4.12e-12 |
SMART |
|
FN3
|
1018 |
1095 |
1.95e0 |
SMART |
|
transmembrane domain
|
1268 |
1290 |
N/A |
INTRINSIC |
|
low complexity region
|
1291 |
1303 |
N/A |
INTRINSIC |
|
PTPc
|
1356 |
1614 |
6.38e-134 |
SMART |
|
PTPc
|
1643 |
1905 |
9.17e-135 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000173376
|
| SMART Domains |
Protein: ENSMUSP00000133468
Gene: ENSMUSG00000028399
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
43 |
112 |
8.57e-12 |
SMART |
|
IGc2
|
145 |
221 |
8.5e-16 |
SMART |
|
low complexity region
|
232 |
244 |
N/A |
INTRINSIC |
|
IGc2
|
255 |
316 |
8.13e-4 |
SMART |
|
FN3
|
330 |
409 |
7.92e-14 |
SMART |
|
FN3
|
425 |
508 |
5.73e-11 |
SMART |
|
IG_like
|
516 |
610 |
8.34e1 |
SMART |
|
FN3
|
523 |
601 |
9.1e-14 |
SMART |
|
FN3
|
614 |
691 |
1.21e0 |
SMART |
|
transmembrane domain
|
864 |
886 |
N/A |
INTRINSIC |
|
low complexity region
|
887 |
899 |
N/A |
INTRINSIC |
|
PTPc
|
952 |
1210 |
6.38e-134 |
SMART |
|
PTPc
|
1239 |
1501 |
9.17e-135 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000174023
|
| SMART Domains |
Protein: ENSMUSP00000133562
Gene: ENSMUSG00000028399
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
|
IGc2
|
138 |
211 |
4.88e-16 |
SMART |
|
low complexity region
|
222 |
234 |
N/A |
INTRINSIC |
|
IGc2
|
245 |
306 |
8.13e-4 |
SMART |
|
FN3
|
320 |
399 |
7.92e-14 |
SMART |
|
FN3
|
415 |
498 |
5.73e-11 |
SMART |
|
IG_like
|
506 |
600 |
8.34e1 |
SMART |
|
FN3
|
513 |
591 |
9.1e-14 |
SMART |
|
FN3
|
604 |
681 |
1.21e0 |
SMART |
|
transmembrane domain
|
853 |
875 |
N/A |
INTRINSIC |
|
low complexity region
|
882 |
893 |
N/A |
INTRINSIC |
|
PTPc
|
946 |
1204 |
6.38e-134 |
SMART |
|
PTPc
|
1233 |
1495 |
9.17e-135 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000174023
|
| SMART Domains |
Protein: ENSMUSP00000133562
Gene: ENSMUSG00000028399
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
|
IGc2
|
138 |
211 |
4.88e-16 |
SMART |
|
low complexity region
|
222 |
234 |
N/A |
INTRINSIC |
|
IGc2
|
245 |
306 |
8.13e-4 |
SMART |
|
FN3
|
320 |
399 |
7.92e-14 |
SMART |
|
FN3
|
415 |
498 |
5.73e-11 |
SMART |
|
IG_like
|
506 |
600 |
8.34e1 |
SMART |
|
FN3
|
513 |
591 |
9.1e-14 |
SMART |
|
FN3
|
604 |
681 |
1.21e0 |
SMART |
|
transmembrane domain
|
853 |
875 |
N/A |
INTRINSIC |
|
low complexity region
|
882 |
893 |
N/A |
INTRINSIC |
|
PTPc
|
946 |
1204 |
6.38e-134 |
SMART |
|
PTPc
|
1233 |
1495 |
9.17e-135 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000174180
|
| SMART Domains |
Protein: ENSMUSP00000133973
Gene: ENSMUSG00000028399
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
|
IGc2
|
138 |
205 |
2.09e-15 |
SMART |
|
IGc2
|
235 |
296 |
8.13e-4 |
SMART |
|
FN3
|
310 |
389 |
7.92e-14 |
SMART |
|
FN3
|
405 |
488 |
5.73e-11 |
SMART |
|
IG_like
|
496 |
590 |
8.34e1 |
SMART |
|
FN3
|
503 |
581 |
9.1e-14 |
SMART |
|
FN3
|
596 |
683 |
2.72e-12 |
SMART |
|
FN3
|
699 |
787 |
6.15e-11 |
SMART |
|
FN3
|
802 |
882 |
4.96e-6 |
SMART |
|
FN3
|
897 |
981 |
4.12e-12 |
SMART |
|
FN3
|
996 |
1073 |
1.95e0 |
SMART |
|
transmembrane domain
|
1246 |
1268 |
N/A |
INTRINSIC |
|
low complexity region
|
1269 |
1281 |
N/A |
INTRINSIC |
|
PTPc
|
1334 |
1592 |
6.38e-134 |
SMART |
|
PTPc
|
1621 |
1883 |
9.17e-135 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000174180
|
| SMART Domains |
Protein: ENSMUSP00000133973
Gene: ENSMUSG00000028399
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
|
IGc2
|
138 |
205 |
2.09e-15 |
SMART |
|
IGc2
|
235 |
296 |
8.13e-4 |
SMART |
|
FN3
|
310 |
389 |
7.92e-14 |
SMART |
|
FN3
|
405 |
488 |
5.73e-11 |
SMART |
|
IG_like
|
496 |
590 |
8.34e1 |
SMART |
|
FN3
|
503 |
581 |
9.1e-14 |
SMART |
|
FN3
|
596 |
683 |
2.72e-12 |
SMART |
|
FN3
|
699 |
787 |
6.15e-11 |
SMART |
|
FN3
|
802 |
882 |
4.96e-6 |
SMART |
|
FN3
|
897 |
981 |
4.12e-12 |
SMART |
|
FN3
|
996 |
1073 |
1.95e0 |
SMART |
|
transmembrane domain
|
1246 |
1268 |
N/A |
INTRINSIC |
|
low complexity region
|
1269 |
1281 |
N/A |
INTRINSIC |
|
PTPc
|
1334 |
1592 |
6.38e-134 |
SMART |
|
PTPc
|
1621 |
1883 |
9.17e-135 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000174531
|
| SMART Domains |
Protein: ENSMUSP00000134229
Gene: ENSMUSG00000028399
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
|
IGc2
|
138 |
208 |
1.38e-15 |
SMART |
|
low complexity region
|
219 |
231 |
N/A |
INTRINSIC |
|
IGc2
|
242 |
303 |
8.13e-4 |
SMART |
|
FN3
|
317 |
396 |
7.92e-14 |
SMART |
|
FN3
|
412 |
495 |
5.73e-11 |
SMART |
|
IG_like
|
503 |
597 |
8.34e1 |
SMART |
|
FN3
|
510 |
588 |
9.1e-14 |
SMART |
|
FN3
|
601 |
678 |
1.21e0 |
SMART |
|
transmembrane domain
|
851 |
873 |
N/A |
INTRINSIC |
|
low complexity region
|
874 |
886 |
N/A |
INTRINSIC |
|
PTPc
|
939 |
1197 |
6.38e-134 |
SMART |
|
PTPc
|
1226 |
1488 |
9.17e-135 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000174531
|
| SMART Domains |
Protein: ENSMUSP00000134229
Gene: ENSMUSG00000028399
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
|
IGc2
|
138 |
208 |
1.38e-15 |
SMART |
|
low complexity region
|
219 |
231 |
N/A |
INTRINSIC |
|
IGc2
|
242 |
303 |
8.13e-4 |
SMART |
|
FN3
|
317 |
396 |
7.92e-14 |
SMART |
|
FN3
|
412 |
495 |
5.73e-11 |
SMART |
|
IG_like
|
503 |
597 |
8.34e1 |
SMART |
|
FN3
|
510 |
588 |
9.1e-14 |
SMART |
|
FN3
|
601 |
678 |
1.21e0 |
SMART |
|
transmembrane domain
|
851 |
873 |
N/A |
INTRINSIC |
|
low complexity region
|
874 |
886 |
N/A |
INTRINSIC |
|
PTPc
|
939 |
1197 |
6.38e-134 |
SMART |
|
PTPc
|
1226 |
1488 |
9.17e-135 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000174831
|
| SMART Domains |
Protein: ENSMUSP00000133328
Gene: ENSMUSG00000028399
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
|
IGc2
|
138 |
214 |
8.5e-16 |
SMART |
|
low complexity region
|
225 |
237 |
N/A |
INTRINSIC |
|
IGc2
|
248 |
309 |
8.13e-4 |
SMART |
|
FN3
|
323 |
402 |
7.92e-14 |
SMART |
|
FN3
|
418 |
501 |
5.73e-11 |
SMART |
|
IG_like
|
509 |
603 |
8.34e1 |
SMART |
|
FN3
|
516 |
594 |
9.1e-14 |
SMART |
|
FN3
|
607 |
684 |
1.21e0 |
SMART |
|
transmembrane domain
|
856 |
878 |
N/A |
INTRINSIC |
|
low complexity region
|
885 |
896 |
N/A |
INTRINSIC |
|
PTPc
|
949 |
1207 |
6.38e-134 |
SMART |
|
PTPc
|
1236 |
1498 |
9.17e-135 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000174831
|
| SMART Domains |
Protein: ENSMUSP00000133328
Gene: ENSMUSG00000028399
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
|
IGc2
|
138 |
214 |
8.5e-16 |
SMART |
|
low complexity region
|
225 |
237 |
N/A |
INTRINSIC |
|
IGc2
|
248 |
309 |
8.13e-4 |
SMART |
|
FN3
|
323 |
402 |
7.92e-14 |
SMART |
|
FN3
|
418 |
501 |
5.73e-11 |
SMART |
|
IG_like
|
509 |
603 |
8.34e1 |
SMART |
|
FN3
|
516 |
594 |
9.1e-14 |
SMART |
|
FN3
|
607 |
684 |
1.21e0 |
SMART |
|
transmembrane domain
|
856 |
878 |
N/A |
INTRINSIC |
|
low complexity region
|
885 |
896 |
N/A |
INTRINSIC |
|
PTPc
|
949 |
1207 |
6.38e-134 |
SMART |
|
PTPc
|
1236 |
1498 |
9.17e-135 |
SMART |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
100% (58/58) |
| MGI Phenotype |
Strain: 2158795
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired learning of spatial tasks, enhanced long-term potentiation at hippocampal synapses, and high mortality associated with reduced food intake. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(9) : Targeted(4) Gene trapped(5)
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bpifb9b |
A |
T |
2: 154,311,659 |
D215V |
probably damaging |
Het |
| Cacna1i |
A |
G |
15: 80,368,671 |
E625G |
probably damaging |
Het |
| Cage1 |
C |
T |
13: 38,023,326 |
S181N |
possibly damaging |
Het |
| Ccdc36 |
A |
C |
9: 108,421,510 |
S36R |
probably damaging |
Het |
| Ccdc73 |
A |
C |
2: 104,992,366 |
I887L |
probably benign |
Het |
| Cfap65 |
T |
A |
1: 74,906,336 |
K1408* |
probably null |
Het |
| Cngb1 |
C |
A |
8: 95,248,507 |
G654W |
probably damaging |
Het |
| Cxcl15 |
A |
T |
5: 90,795,245 |
E35D |
possibly damaging |
Het |
| Ddi1 |
A |
G |
9: 6,266,073 |
S99P |
probably benign |
Het |
| Disp3 |
A |
T |
4: 148,258,126 |
D622E |
possibly damaging |
Het |
| Dnajc22 |
G |
A |
15: 99,101,734 |
V267I |
probably benign |
Het |
| Dph5 |
G |
A |
3: 115,928,643 |
G257S |
probably benign |
Het |
| Elmo2 |
A |
T |
2: 165,314,813 |
|
probably null |
Het |
| Fam186a |
T |
C |
15: 99,941,653 |
R2237G |
unknown |
Het |
| Fez1 |
G |
A |
9: 36,867,882 |
R285Q |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,946,932 |
H101L |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,977,414 |
C1359Y |
probably benign |
Het |
| Fxyd7 |
G |
A |
7: 31,047,390 |
T15I |
probably benign |
Het |
| Gpr155 |
A |
T |
2: 73,382,185 |
D31E |
probably benign |
Het |
| Irx6 |
A |
T |
8: 92,678,800 |
Y432F |
probably damaging |
Het |
| Itih5 |
A |
C |
2: 10,235,081 |
I340L |
probably damaging |
Het |
| Lao1 |
T |
C |
4: 118,965,375 |
L164S |
probably damaging |
Het |
| Mcoln3 |
T |
C |
3: 146,139,519 |
I490T |
probably damaging |
Het |
| Mef2b |
T |
C |
8: 70,167,196 |
Y311H |
probably damaging |
Het |
| Mras |
A |
T |
9: 99,394,484 |
L111Q |
probably damaging |
Het |
| Mrc1 |
A |
G |
2: 14,271,280 |
D475G |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,598,490 |
I1155T |
probably damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,789,611 |
|
probably null |
Het |
| Olfr58 |
G |
A |
9: 19,783,731 |
M199I |
probably benign |
Het |
| Olfr885 |
T |
C |
9: 38,062,001 |
I227T |
probably damaging |
Het |
| Parp9 |
A |
T |
16: 35,948,007 |
I186F |
probably damaging |
Het |
| Pcdhac2 |
T |
A |
18: 37,145,230 |
V421E |
probably benign |
Het |
| Pck1 |
T |
A |
2: 173,154,827 |
I178K |
probably benign |
Het |
| Pde6b |
A |
G |
5: 108,430,703 |
K836E |
probably benign |
Het |
| Pwp2 |
A |
G |
10: 78,183,006 |
Y56H |
probably benign |
Het |
| Rarb |
G |
A |
14: 16,432,085 |
|
probably benign |
Het |
| Rpain |
C |
G |
11: 70,970,921 |
H50Q |
probably benign |
Het |
| Rps9 |
CTGTTTG |
CTG |
7: 3,704,759 |
|
probably null |
Het |
| Rubcn |
A |
T |
16: 32,843,193 |
S358T |
probably damaging |
Het |
| Ryr2 |
G |
A |
13: 11,742,011 |
R1586C |
probably damaging |
Het |
| Slfn9 |
T |
C |
11: 82,981,904 |
I669V |
probably benign |
Het |
| Slx1b |
T |
C |
7: 126,691,767 |
|
probably benign |
Het |
| Spsb3 |
T |
A |
17: 24,887,511 |
|
probably benign |
Het |
| Tbx15 |
A |
G |
3: 99,326,384 |
I288V |
possibly damaging |
Het |
| Tlr2 |
C |
A |
3: 83,837,332 |
E481D |
probably damaging |
Het |
| Trim17 |
A |
T |
11: 58,970,428 |
D253V |
probably damaging |
Het |
| Trim69 |
A |
G |
2: 122,178,746 |
D429G |
probably damaging |
Het |
| Vstm5 |
A |
G |
9: 15,257,794 |
|
probably null |
Het |
| Vwa3b |
A |
G |
1: 37,085,332 |
Q337R |
probably benign |
Het |
| Zfp113 |
T |
C |
5: 138,145,472 |
N172S |
probably benign |
Het |
| Zfp607a |
T |
A |
7: 27,878,751 |
H415Q |
probably damaging |
Het |
| Zfp87 |
G |
A |
13: 67,517,899 |
T148I |
probably benign |
Het |
|
| Other mutations in Ptprd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00964:Ptprd
|
APN |
4 |
75998556 |
nonsense |
probably null |
|
|
IGL01067:Ptprd
|
APN |
4 |
76059685 |
missense |
probably damaging |
1.00 |
|
IGL01121:Ptprd
|
APN |
4 |
75954201 |
splice site |
probably benign |
|
|
IGL01531:Ptprd
|
APN |
4 |
76085520 |
missense |
probably damaging |
0.98 |
|
IGL01661:Ptprd
|
APN |
4 |
75954083 |
missense |
probably damaging |
1.00 |
|
IGL01723:Ptprd
|
APN |
4 |
76243673 |
missense |
probably damaging |
1.00 |
|
IGL01735:Ptprd
|
APN |
4 |
76136820 |
splice site |
probably null |
|
|
IGL01810:Ptprd
|
APN |
4 |
76140507 |
splice site |
probably benign |
|
|
IGL01834:Ptprd
|
APN |
4 |
76128595 |
missense |
probably damaging |
1.00 |
|
IGL01835:Ptprd
|
APN |
4 |
76246821 |
missense |
probably benign |
0.02 |
|
IGL01867:Ptprd
|
APN |
4 |
76243647 |
missense |
probably damaging |
1.00 |
|
IGL02582:Ptprd
|
APN |
4 |
75947124 |
missense |
probably damaging |
1.00 |
|
IGL02591:Ptprd
|
APN |
4 |
75982050 |
missense |
probably damaging |
1.00 |
|
IGL02741:Ptprd
|
APN |
4 |
76133284 |
missense |
probably damaging |
1.00 |
|
IGL02866:Ptprd
|
APN |
4 |
76050437 |
missense |
probably damaging |
1.00 |
|
IGL02960:Ptprd
|
APN |
4 |
76128868 |
missense |
probably damaging |
1.00 |
|
IGL03155:Ptprd
|
APN |
4 |
76066219 |
missense |
possibly damaging |
0.95 |
|
IGL03230:Ptprd
|
APN |
4 |
76050417 |
nonsense |
probably null |
|
|
IGL03343:Ptprd
|
APN |
4 |
76059729 |
missense |
probably damaging |
1.00 |
|
unhurried
|
UTSW |
4 |
76100633 |
nonsense |
probably null |
|
|
ANU22:Ptprd
|
UTSW |
4 |
76100456 |
missense |
probably damaging |
0.99 |
|
F5493:Ptprd
|
UTSW |
4 |
76084408 |
missense |
probably damaging |
1.00 |
|
P0033:Ptprd
|
UTSW |
4 |
76128854 |
nonsense |
probably null |
|
|
R0044:Ptprd
|
UTSW |
4 |
76086329 |
missense |
probably benign |
0.08 |
|
R0044:Ptprd
|
UTSW |
4 |
76086329 |
missense |
probably benign |
0.08 |
|
R0076:Ptprd
|
UTSW |
4 |
75947039 |
splice site |
probably benign |
|
|
R0137:Ptprd
|
UTSW |
4 |
76136903 |
missense |
probably benign |
0.24 |
|
R0358:Ptprd
|
UTSW |
4 |
75944989 |
missense |
probably damaging |
1.00 |
|
R0365:Ptprd
|
UTSW |
4 |
76136846 |
missense |
probably damaging |
1.00 |
|
R0385:Ptprd
|
UTSW |
4 |
76128665 |
missense |
probably damaging |
1.00 |
|
R0601:Ptprd
|
UTSW |
4 |
76100474 |
missense |
probably benign |
|
|
R0646:Ptprd
|
UTSW |
4 |
76084403 |
missense |
probably damaging |
0.99 |
|
R0667:Ptprd
|
UTSW |
4 |
75957346 |
missense |
probably damaging |
1.00 |
|
R0707:Ptprd
|
UTSW |
4 |
75957239 |
missense |
probably damaging |
1.00 |
|
R0734:Ptprd
|
UTSW |
4 |
76140597 |
missense |
probably damaging |
1.00 |
|
R0827:Ptprd
|
UTSW |
4 |
76128915 |
missense |
probably damaging |
0.98 |
|
R0932:Ptprd
|
UTSW |
4 |
76136885 |
missense |
probably damaging |
1.00 |
|
R1069:Ptprd
|
UTSW |
4 |
75998487 |
splice site |
probably benign |
|
|
R1069:Ptprd
|
UTSW |
4 |
76100633 |
nonsense |
probably null |
|
|
R1086:Ptprd
|
UTSW |
4 |
76133258 |
missense |
probably damaging |
1.00 |
|
R1439:Ptprd
|
UTSW |
4 |
76066200 |
missense |
probably damaging |
1.00 |
|
R1440:Ptprd
|
UTSW |
4 |
76084552 |
missense |
probably damaging |
0.98 |
|
R1688:Ptprd
|
UTSW |
4 |
75982684 |
missense |
probably damaging |
1.00 |
|
R1858:Ptprd
|
UTSW |
4 |
75947147 |
missense |
probably damaging |
1.00 |
|
R2001:Ptprd
|
UTSW |
4 |
75954122 |
missense |
probably damaging |
1.00 |
|
R2020:Ptprd
|
UTSW |
4 |
76133161 |
missense |
probably damaging |
1.00 |
|
R2023:Ptprd
|
UTSW |
4 |
75957104 |
missense |
probably damaging |
1.00 |
|
R2413:Ptprd
|
UTSW |
4 |
76133200 |
missense |
probably damaging |
1.00 |
|
R2510:Ptprd
|
UTSW |
4 |
76086011 |
critical splice donor site |
probably null |
|
|
R2914:Ptprd
|
UTSW |
4 |
75947101 |
missense |
probably damaging |
1.00 |
|
R2971:Ptprd
|
UTSW |
4 |
76107324 |
missense |
probably benign |
0.10 |
|
R3051:Ptprd
|
UTSW |
4 |
76100630 |
missense |
probably damaging |
1.00 |
|
R3433:Ptprd
|
UTSW |
4 |
76086011 |
critical splice donor site |
probably null |
|
|
R3964:Ptprd
|
UTSW |
4 |
76059836 |
splice site |
probably benign |
|
|
R4009:Ptprd
|
UTSW |
4 |
75956397 |
missense |
possibly damaging |
0.94 |
|
R4394:Ptprd
|
UTSW |
4 |
76128685 |
missense |
probably damaging |
1.00 |
|
R4420:Ptprd
|
UTSW |
4 |
76039377 |
missense |
possibly damaging |
0.92 |
|
R4424:Ptprd
|
UTSW |
4 |
76102963 |
missense |
probably benign |
0.22 |
|
R4575:Ptprd
|
UTSW |
4 |
76243786 |
missense |
possibly damaging |
0.55 |
|
R4578:Ptprd
|
UTSW |
4 |
76243786 |
missense |
possibly damaging |
0.55 |
|
R4715:Ptprd
|
UTSW |
4 |
76107333 |
missense |
probably benign |
0.03 |
|
R4782:Ptprd
|
UTSW |
4 |
76091532 |
missense |
probably benign |
0.01 |
|
R4785:Ptprd
|
UTSW |
4 |
76140553 |
missense |
probably benign |
0.05 |
|
R4799:Ptprd
|
UTSW |
4 |
76091532 |
missense |
probably benign |
0.01 |
|
R4944:Ptprd
|
UTSW |
4 |
76128899 |
missense |
probably damaging |
1.00 |
|
R4969:Ptprd
|
UTSW |
4 |
76133305 |
missense |
probably damaging |
1.00 |
|
R5153:Ptprd
|
UTSW |
4 |
76012102 |
missense |
probably damaging |
1.00 |
|
R5164:Ptprd
|
UTSW |
4 |
76100758 |
splice site |
probably null |
|
|
R5287:Ptprd
|
UTSW |
4 |
75954168 |
nonsense |
probably null |
|
|
R5305:Ptprd
|
UTSW |
4 |
75982626 |
missense |
probably damaging |
1.00 |
|
R5362:Ptprd
|
UTSW |
4 |
76128813 |
missense |
probably damaging |
1.00 |
|
R5403:Ptprd
|
UTSW |
4 |
75954168 |
nonsense |
probably null |
|
|
R5531:Ptprd
|
UTSW |
4 |
76059667 |
critical splice donor site |
probably null |
|
|
R5543:Ptprd
|
UTSW |
4 |
76059753 |
missense |
probably damaging |
1.00 |
|
R5634:Ptprd
|
UTSW |
4 |
76072018 |
missense |
probably benign |
0.01 |
|
R5719:Ptprd
|
UTSW |
4 |
76054602 |
critical splice acceptor site |
probably null |
|
|
R5884:Ptprd
|
UTSW |
4 |
75982690 |
missense |
probably damaging |
1.00 |
|
R6247:Ptprd
|
UTSW |
4 |
76066291 |
missense |
probably benign |
0.06 |
|
R6250:Ptprd
|
UTSW |
4 |
76128995 |
missense |
probably damaging |
1.00 |
|
R6335:Ptprd
|
UTSW |
4 |
75954183 |
missense |
probably damaging |
1.00 |
|
R6352:Ptprd
|
UTSW |
4 |
76091552 |
splice site |
probably null |
|
|
R6533:Ptprd
|
UTSW |
4 |
76128528 |
missense |
probably damaging |
1.00 |
|
R6756:Ptprd
|
UTSW |
4 |
75955299 |
missense |
probably damaging |
1.00 |
|
R6782:Ptprd
|
UTSW |
4 |
76325140 |
splice site |
probably null |
|
|
R7131:Ptprd
|
UTSW |
4 |
76066340 |
missense |
probably damaging |
1.00 |
|
R7170:Ptprd
|
UTSW |
4 |
76071962 |
missense |
probably benign |
0.06 |
|
R7233:Ptprd
|
UTSW |
4 |
76059783 |
missense |
probably benign |
0.00 |
|
R7246:Ptprd
|
UTSW |
4 |
76128676 |
missense |
probably damaging |
1.00 |
|
R7413:Ptprd
|
UTSW |
4 |
76246839 |
missense |
probably benign |
0.00 |
|
R7428:Ptprd
|
UTSW |
4 |
76086468 |
missense |
probably benign |
0.03 |
|
R7442:Ptprd
|
UTSW |
4 |
76059821 |
nonsense |
probably null |
|
|
R7491:Ptprd
|
UTSW |
4 |
76133155 |
missense |
probably benign |
0.23 |
|
R7526:Ptprd
|
UTSW |
4 |
76066327 |
missense |
probably benign |
0.00 |
|
R7609:Ptprd
|
UTSW |
4 |
76072003 |
missense |
probably benign |
0.03 |
|
R7612:Ptprd
|
UTSW |
4 |
76086459 |
missense |
probably benign |
0.45 |
|
R7659:Ptprd
|
UTSW |
4 |
76128916 |
missense |
probably benign |
0.03 |
|
R7743:Ptprd
|
UTSW |
4 |
76086089 |
missense |
probably damaging |
1.00 |
|
R7748:Ptprd
|
UTSW |
4 |
76099504 |
missense |
probably null |
0.39 |
|
R7788:Ptprd
|
UTSW |
4 |
75998604 |
missense |
probably damaging |
1.00 |
|
R7836:Ptprd
|
UTSW |
4 |
75982644 |
missense |
probably damaging |
0.99 |
|
R7937:Ptprd
|
UTSW |
4 |
76095535 |
missense |
probably benign |
0.00 |
|
R8000:Ptprd
|
UTSW |
4 |
76066242 |
missense |
possibly damaging |
0.95 |
|
R8018:Ptprd
|
UTSW |
4 |
76085520 |
missense |
probably damaging |
0.98 |
|
R8072:Ptprd
|
UTSW |
4 |
76086036 |
missense |
probably benign |
0.01 |
|
R8119:Ptprd
|
UTSW |
4 |
76129026 |
missense |
probably benign |
0.00 |
|
R8350:Ptprd
|
UTSW |
4 |
75950661 |
missense |
probably damaging |
1.00 |
|
R8387:Ptprd
|
UTSW |
4 |
75955289 |
missense |
probably damaging |
1.00 |
|
R8458:Ptprd
|
UTSW |
4 |
76066259 |
missense |
probably benign |
0.00 |
|
R8529:Ptprd
|
UTSW |
4 |
76129025 |
missense |
probably damaging |
1.00 |
|
R8699:Ptprd
|
UTSW |
4 |
76041392 |
missense |
probably benign |
|
|
R8924:Ptprd
|
UTSW |
4 |
75998499 |
critical splice donor site |
probably null |
|
|
R8984:Ptprd
|
UTSW |
4 |
75945014 |
missense |
probably damaging |
1.00 |
|
R9024:Ptprd
|
UTSW |
4 |
75956330 |
missense |
probably damaging |
1.00 |
|
R9204:Ptprd
|
UTSW |
4 |
75954078 |
missense |
possibly damaging |
0.46 |
|
R9206:Ptprd
|
UTSW |
4 |
75954078 |
missense |
possibly damaging |
0.46 |
|
R9259:Ptprd
|
UTSW |
4 |
76071963 |
missense |
probably damaging |
0.99 |
|
R9311:Ptprd
|
UTSW |
4 |
76133083 |
missense |
probably benign |
0.25 |
|
R9417:Ptprd
|
UTSW |
4 |
75947098 |
missense |
probably damaging |
0.99 |
|
R9427:Ptprd
|
UTSW |
4 |
76133203 |
missense |
probably benign |
0.01 |
|
R9579:Ptprd
|
UTSW |
4 |
75954078 |
missense |
possibly damaging |
0.46 |
|
R9580:Ptprd
|
UTSW |
4 |
75954078 |
missense |
possibly damaging |
0.46 |
|
R9701:Ptprd
|
UTSW |
4 |
75998659 |
missense |
probably damaging |
1.00 |
|
RF016:Ptprd
|
UTSW |
4 |
76128655 |
missense |
probably benign |
0.01 |
|
RF023:Ptprd
|
UTSW |
4 |
76128565 |
missense |
probably damaging |
0.98 |
|
Z1176:Ptprd
|
UTSW |
4 |
76133214 |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGATTAAACAGAAGCCGC -3'
(R):5'- TTCCTAGAGGGTTCCCTACG -3'
Sequencing Primer
(F):5'- ACAGGTTCTGGATGAGGCC -3'
(R):5'- TACGATTGATATGGGCCCGCAG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation