Incidental Mutation 'R9514:Pcdha12'
| ID |
718423 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha12
|
| Ensembl Gene |
ENSMUSG00000103310 |
| Gene Name |
protocadherin alpha 12 |
| Synonyms |
Cnr5, Pcdha13, Crnr5 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R9514 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37153283-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 37155526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Cysteine
at position 748
(W748C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047609
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047614]
[ENSMUST00000070797]
[ENSMUST00000115657]
[ENSMUST00000115658]
[ENSMUST00000115659]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000192295]
[ENSMUST00000192447]
[ENSMUST00000192503]
[ENSMUST00000192512]
[ENSMUST00000192631]
[ENSMUST00000193389]
[ENSMUST00000193777]
[ENSMUST00000193839]
[ENSMUST00000194038]
[ENSMUST00000194544]
[ENSMUST00000194751]
[ENSMUST00000195590]
|
| AlphaFold |
Q91Y18 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047614
AA Change: W748C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047609
Gene: ENSMUSG00000103310
AA Change: W748C
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
19 |
131 |
3.78e-2 |
SMART |
|
CA
|
155 |
240 |
3.26e-24 |
SMART |
|
CA
|
264 |
348 |
6.37e-27 |
SMART |
|
CA
|
372 |
453 |
3.31e-25 |
SMART |
|
CA
|
477 |
563 |
6.18e-25 |
SMART |
|
CA
|
594 |
676 |
5.6e-14 |
SMART |
|
low complexity region
|
679 |
696 |
N/A |
INTRINSIC |
|
transmembrane domain
|
699 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
799 |
933 |
5.3e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070797
|
| SMART Domains |
Protein: ENSMUSP00000068828
Gene: ENSMUSG00000103442
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
22 |
132 |
3.09e-2 |
SMART |
|
CA
|
156 |
241 |
6.14e-20 |
SMART |
|
CA
|
265 |
349 |
3.92e-27 |
SMART |
|
CA
|
373 |
454 |
4.94e-24 |
SMART |
|
CA
|
478 |
564 |
1e-24 |
SMART |
|
CA
|
592 |
672 |
4.55e-14 |
SMART |
|
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
797 |
931 |
5.3e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115657
|
| SMART Domains |
Protein: ENSMUSP00000111321
Gene: ENSMUSG00000102206
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
2.95e-2 |
SMART |
|
CA
|
155 |
240 |
7.44e-19 |
SMART |
|
CA
|
264 |
347 |
5.63e-28 |
SMART |
|
CA
|
371 |
452 |
3.14e-26 |
SMART |
|
CA
|
476 |
562 |
1.42e-24 |
SMART |
|
CA
|
593 |
675 |
1.03e-12 |
SMART |
|
transmembrane domain
|
697 |
719 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
794 |
N/A |
INTRINSIC |
|
low complexity region
|
918 |
942 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115658
|
| SMART Domains |
Protein: ENSMUSP00000111322
Gene: ENSMUSG00000007440
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
21 |
N/A |
INTRINSIC |
|
CA
|
46 |
132 |
6.34e-2 |
SMART |
|
CA
|
156 |
241 |
4.65e-20 |
SMART |
|
CA
|
265 |
349 |
1.25e-25 |
SMART |
|
CA
|
373 |
454 |
9.22e-24 |
SMART |
|
CA
|
478 |
564 |
4.3e-24 |
SMART |
|
CA
|
595 |
678 |
5.07e-12 |
SMART |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
795 |
929 |
5.3e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115659
|
| SMART Domains |
Protein: ENSMUSP00000111323
Gene: ENSMUSG00000103770
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
51 |
N/A |
INTRINSIC |
|
CA
|
75 |
161 |
2.46e-2 |
SMART |
|
CA
|
185 |
270 |
8.1e-20 |
SMART |
|
CA
|
294 |
378 |
1.69e-22 |
SMART |
|
CA
|
402 |
483 |
1.52e-24 |
SMART |
|
CA
|
507 |
593 |
5.68e-24 |
SMART |
|
CA
|
624 |
705 |
6.69e-12 |
SMART |
|
transmembrane domain
|
727 |
749 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
828 |
962 |
5.6e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115661
|
| SMART Domains |
Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
674 |
4.12e-12 |
SMART |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
796 |
930 |
3.9e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115662
|
| SMART Domains |
Protein: ENSMUSP00000111326
Gene: ENSMUSG00000104148
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
6.34e-2 |
SMART |
|
CA
|
155 |
240 |
2.98e-18 |
SMART |
|
CA
|
264 |
348 |
2.17e-29 |
SMART |
|
CA
|
372 |
453 |
2.84e-24 |
SMART |
|
CA
|
477 |
563 |
5.02e-25 |
SMART |
|
CA
|
594 |
675 |
8.16e-16 |
SMART |
|
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
|
low complexity region
|
916 |
940 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192168
|
| SMART Domains |
Protein: ENSMUSP00000142293
Gene: ENSMUSG00000103092
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
2.2e-2 |
SMART |
|
CA
|
155 |
240 |
2.05e-21 |
SMART |
|
CA
|
264 |
348 |
8.81e-21 |
SMART |
|
CA
|
372 |
453 |
2.01e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
591 |
673 |
1.63e-15 |
SMART |
|
transmembrane domain
|
693 |
715 |
N/A |
INTRINSIC |
|
low complexity region
|
902 |
926 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192295
|
| SMART Domains |
Protein: ENSMUSP00000142103
Gene: ENSMUSG00000104252
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
568 |
5.38e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192447
|
| SMART Domains |
Protein: ENSMUSP00000142270
Gene: ENSMUSG00000102206
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
1.5e-4 |
SMART |
|
CA
|
155 |
240 |
3.6e-21 |
SMART |
|
CA
|
264 |
347 |
2.8e-30 |
SMART |
|
CA
|
371 |
452 |
1.5e-28 |
SMART |
|
CA
|
476 |
562 |
6.8e-27 |
SMART |
|
CA
|
593 |
675 |
4.9e-15 |
SMART |
|
transmembrane domain
|
697 |
719 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
794 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192503
|
| SMART Domains |
Protein: ENSMUSP00000141989
Gene: ENSMUSG00000102312
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
17 |
N/A |
INTRINSIC |
|
CA
|
42 |
128 |
3.78e-2 |
SMART |
|
CA
|
152 |
237 |
8.94e-22 |
SMART |
|
CA
|
261 |
345 |
3.74e-24 |
SMART |
|
CA
|
369 |
450 |
1.09e-25 |
SMART |
|
CA
|
474 |
560 |
1.42e-24 |
SMART |
|
CA
|
588 |
670 |
2.96e-13 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
934 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192512
|
| SMART Domains |
Protein: ENSMUSP00000141408
Gene: ENSMUSG00000104252
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
674 |
4.12e-12 |
SMART |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
915 |
939 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192631
|
| SMART Domains |
Protein: ENSMUSP00000142156
Gene: ENSMUSG00000104318
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
2.58e-2 |
SMART |
|
CA
|
155 |
240 |
4.27e-19 |
SMART |
|
CA
|
264 |
348 |
1.42e-24 |
SMART |
|
CA
|
372 |
453 |
9.36e-25 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
671 |
4.03e-6 |
SMART |
|
transmembrane domain
|
696 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
905 |
929 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193389
|
| SMART Domains |
Protein: ENSMUSP00000141459
Gene: ENSMUSG00000103707
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
5.67e-2 |
SMART |
|
CA
|
155 |
240 |
4.72e-21 |
SMART |
|
CA
|
264 |
348 |
1.9e-25 |
SMART |
|
CA
|
372 |
453 |
3.31e-25 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
676 |
5.91e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193777
|
| SMART Domains |
Protein: ENSMUSP00000141587
Gene: ENSMUSG00000103707
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
5.67e-2 |
SMART |
|
CA
|
155 |
240 |
4.72e-21 |
SMART |
|
CA
|
264 |
348 |
1.9e-25 |
SMART |
|
CA
|
372 |
453 |
3.31e-25 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
676 |
5.91e-13 |
SMART |
|
low complexity region
|
914 |
938 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193839
|
| SMART Domains |
Protein: ENSMUSP00000142308
Gene: ENSMUSG00000103442
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
22 |
132 |
3.09e-2 |
SMART |
|
CA
|
156 |
241 |
6.14e-20 |
SMART |
|
CA
|
265 |
349 |
3.92e-27 |
SMART |
|
CA
|
373 |
454 |
4.94e-24 |
SMART |
|
CA
|
478 |
564 |
1e-24 |
SMART |
|
CA
|
592 |
672 |
4.55e-14 |
SMART |
|
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193856
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194038
|
| SMART Domains |
Protein: ENSMUSP00000142159
Gene: ENSMUSG00000103800
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
6.34e-2 |
SMART |
|
CA
|
155 |
240 |
4.27e-19 |
SMART |
|
CA
|
264 |
348 |
2.04e-25 |
SMART |
|
CA
|
372 |
453 |
2.84e-24 |
SMART |
|
CA
|
477 |
563 |
9.88e-24 |
SMART |
|
CA
|
594 |
676 |
8.62e-15 |
SMART |
|
transmembrane domain
|
699 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
914 |
938 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194544
|
| SMART Domains |
Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
18 |
66 |
5e-20 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194751
|
| SMART Domains |
Protein: ENSMUSP00000142285
Gene: ENSMUSG00000103707
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
21 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_2
|
29 |
112 |
4.5e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195590
|
| SMART Domains |
Protein: ENSMUSP00000141355
Gene: ENSMUSG00000104148
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
6.34e-2 |
SMART |
|
CA
|
155 |
240 |
2.98e-18 |
SMART |
|
CA
|
264 |
348 |
2.17e-29 |
SMART |
|
CA
|
372 |
453 |
2.84e-24 |
SMART |
|
CA
|
477 |
563 |
5.02e-25 |
SMART |
|
CA
|
594 |
675 |
8.16e-16 |
SMART |
|
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
T |
C |
11: 58,312,533 (GRCm39) |
S4P |
probably benign |
Het |
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| Acsl6 |
A |
G |
11: 54,225,880 (GRCm39) |
N307D |
probably benign |
Het |
| Atxn1 |
A |
G |
13: 45,721,433 (GRCm39) |
V154A |
probably benign |
Het |
| Bltp3a |
A |
G |
17: 28,112,414 (GRCm39) |
D1201G |
probably damaging |
Het |
| Cacna2d4 |
T |
C |
6: 119,213,611 (GRCm39) |
L10S |
probably benign |
Het |
| Cd33 |
A |
T |
7: 43,182,150 (GRCm39) |
H98Q |
probably benign |
Het |
| Cebpz |
A |
T |
17: 79,239,684 (GRCm39) |
M579K |
probably benign |
Het |
| Cenpk |
T |
G |
13: 104,370,682 (GRCm39) |
C103G |
probably benign |
Het |
| Cep97 |
T |
A |
16: 55,726,093 (GRCm39) |
Q670L |
probably benign |
Het |
| Cfap65 |
C |
T |
1: 74,945,468 (GRCm39) |
|
probably null |
Het |
| Cir1 |
A |
G |
2: 73,142,781 (GRCm39) |
S18P |
probably damaging |
Het |
| Coprs |
T |
C |
8: 13,935,081 (GRCm39) |
Y158C |
probably damaging |
Het |
| Creld1 |
T |
C |
6: 113,469,765 (GRCm39) |
F389S |
probably damaging |
Het |
| Dimt1 |
T |
C |
13: 107,093,636 (GRCm39) |
I276T |
possibly damaging |
Het |
| Dok1 |
T |
C |
6: 83,009,972 (GRCm39) |
K46E |
probably damaging |
Het |
| Dsp |
T |
A |
13: 38,371,781 (GRCm39) |
C911S |
probably benign |
Het |
| Egr3 |
A |
G |
14: 70,314,978 (GRCm39) |
I29V |
probably benign |
Het |
| Fam186a |
A |
G |
15: 99,844,766 (GRCm39) |
S493P |
unknown |
Het |
| Fam83a |
G |
A |
15: 57,849,765 (GRCm39) |
G103D |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,175,808 (GRCm39) |
Q1635L |
probably damaging |
Het |
| Figla |
A |
C |
6: 85,997,689 (GRCm39) |
H139P |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,262,115 (GRCm39) |
K551E |
probably damaging |
Het |
| Galr2 |
A |
G |
11: 116,174,452 (GRCm39) |
T361A |
probably benign |
Het |
| Gart |
A |
T |
16: 91,427,596 (GRCm39) |
S467R |
probably benign |
Het |
| Ggps1 |
T |
C |
13: 14,229,742 (GRCm39) |
K45R |
probably benign |
Het |
| Ghsr |
G |
C |
3: 27,426,630 (GRCm39) |
V229L |
possibly damaging |
Het |
| H2ac21 |
A |
G |
3: 96,127,401 (GRCm39) |
E57G |
probably damaging |
Het |
| Hectd2 |
A |
T |
19: 36,582,689 (GRCm39) |
H473L |
possibly damaging |
Het |
| Hic2 |
T |
C |
16: 17,076,293 (GRCm39) |
V374A |
possibly damaging |
Het |
| Hivep2 |
T |
A |
10: 14,005,523 (GRCm39) |
I707N |
probably benign |
Het |
| Il17rc |
T |
C |
6: 113,449,741 (GRCm39) |
S116P |
probably damaging |
Het |
| Krt34 |
A |
T |
11: 99,929,226 (GRCm39) |
I328N |
probably damaging |
Het |
| Krt79 |
G |
A |
15: 101,840,288 (GRCm39) |
R303C |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,100,015 (GRCm39) |
E830G |
probably benign |
Het |
| Lamb2 |
C |
T |
9: 108,358,006 (GRCm39) |
T149I |
probably damaging |
Het |
| Mau2 |
T |
C |
8: 70,480,153 (GRCm39) |
Y318C |
probably damaging |
Het |
| Mier2 |
T |
C |
10: 79,377,496 (GRCm39) |
S486G |
probably benign |
Het |
| Mllt10 |
A |
G |
2: 18,164,322 (GRCm39) |
D284G |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,937,366 (GRCm39) |
S748R |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,248,133 (GRCm39) |
S1724P |
probably benign |
Het |
| Nipal4 |
T |
A |
11: 46,052,922 (GRCm39) |
|
probably null |
Het |
| Nlrc4 |
G |
C |
17: 74,753,736 (GRCm39) |
L216V |
probably benign |
Het |
| Ogfr |
A |
G |
2: 180,235,417 (GRCm39) |
M164V |
possibly damaging |
Het |
| Or1o4 |
G |
T |
17: 37,591,386 (GRCm39) |
|
probably benign |
Het |
| Or4b12 |
G |
A |
2: 90,096,709 (GRCm39) |
Q22* |
probably null |
Het |
| Pkd1l3 |
T |
C |
8: 110,395,849 (GRCm39) |
V2083A |
probably damaging |
Het |
| Plin3 |
C |
A |
17: 56,587,824 (GRCm39) |
G297V |
probably benign |
Het |
| Prex1 |
C |
T |
2: 166,419,896 (GRCm39) |
R1260Q |
possibly damaging |
Het |
| Prpf38b |
A |
G |
3: 108,818,619 (GRCm39) |
V47A |
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,675,071 (GRCm39) |
T851A |
probably benign |
Het |
| Ptk7 |
T |
A |
17: 46,887,744 (GRCm39) |
I563F |
possibly damaging |
Het |
| Ptprm |
A |
G |
17: 67,116,466 (GRCm39) |
Y938H |
probably damaging |
Het |
| R3hcc1l |
G |
A |
19: 42,507,203 (GRCm39) |
|
probably benign |
Het |
| Rapgef6 |
T |
C |
11: 54,443,684 (GRCm39) |
V89A |
probably benign |
Het |
| Sh2b1 |
CTC |
CTCCGCCACGGGGACCAGTTC |
7: 126,066,770 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
AGCTCAGCCACGGGGACC |
AGCTCAGCCACGGGGACCCGCTCAGCCACGGGGACC |
7: 126,066,750 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
ACCAGCTC |
ACCAGCTCAGCCACGGGGGCCAGCTC |
7: 126,066,765 (GRCm39) |
|
probably benign |
Het |
| Slain1 |
T |
A |
14: 103,932,748 (GRCm39) |
V444E |
probably damaging |
Het |
| Slc10a5 |
T |
A |
3: 10,400,532 (GRCm39) |
I43F |
possibly damaging |
Het |
| Smarca2 |
T |
C |
19: 26,659,452 (GRCm39) |
F914S |
possibly damaging |
Het |
| Smarca5 |
A |
C |
8: 81,428,840 (GRCm39) |
L1003V |
probably damaging |
Het |
| Spata18 |
A |
T |
5: 73,829,840 (GRCm39) |
I332F |
|
Het |
| Spata31d1e |
A |
G |
13: 59,890,806 (GRCm39) |
V338A |
probably damaging |
Het |
| Stard9 |
C |
G |
2: 120,534,564 (GRCm39) |
P3607R |
probably damaging |
Het |
| Tbx19 |
A |
G |
1: 164,966,546 (GRCm39) |
S443P |
unknown |
Het |
| Tktl2 |
C |
G |
8: 66,965,840 (GRCm39) |
A466G |
probably damaging |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Tmem129 |
A |
G |
5: 33,815,122 (GRCm39) |
V17A |
probably benign |
Het |
| Tom1l2 |
T |
C |
11: 60,153,486 (GRCm39) |
T164A |
probably damaging |
Het |
| Tor1aip1 |
T |
A |
1: 155,906,177 (GRCm39) |
D205V |
probably damaging |
Het |
| Tpp2 |
T |
A |
1: 44,017,648 (GRCm39) |
S751T |
probably benign |
Het |
| Trim11 |
G |
T |
11: 58,878,477 (GRCm39) |
A251S |
unknown |
Het |
| Trim33 |
T |
C |
3: 103,239,074 (GRCm39) |
V684A |
probably benign |
Het |
| Triobp |
C |
T |
15: 78,877,378 (GRCm39) |
R1637C |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,960,040 (GRCm39) |
N1225S |
probably benign |
Het |
| Usp21 |
T |
C |
1: 171,112,503 (GRCm39) |
Y300C |
probably damaging |
Het |
| Usp32 |
T |
C |
11: 84,913,560 (GRCm39) |
T924A |
probably damaging |
Het |
| Vmn1r198 |
A |
T |
13: 22,539,015 (GRCm39) |
H167L |
possibly damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,689,672 (GRCm39) |
T183A |
probably benign |
Het |
| Zc3h8 |
T |
C |
2: 128,773,223 (GRCm39) |
Y213C |
probably damaging |
Het |
| Zcchc17 |
A |
T |
4: 130,232,337 (GRCm39) |
D55E |
probably benign |
Het |
| Zfp408 |
A |
T |
2: 91,478,368 (GRCm39) |
W26R |
probably damaging |
Het |
| Zfp937 |
G |
T |
2: 150,080,890 (GRCm39) |
A307S |
possibly damaging |
Het |
|
| Other mutations in Pcdha12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00817:Pcdha12
|
APN |
18 |
37,154,986 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2884:Pcdha12
|
UTSW |
18 |
37,153,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3111:Pcdha12
|
UTSW |
18 |
37,155,243 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3619:Pcdha12
|
UTSW |
18 |
37,153,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4605:Pcdha12
|
UTSW |
18 |
37,154,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4629:Pcdha12
|
UTSW |
18 |
37,154,926 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4711:Pcdha12
|
UTSW |
18 |
37,153,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4987:Pcdha12
|
UTSW |
18 |
37,154,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5489:Pcdha12
|
UTSW |
18 |
37,155,260 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5568:Pcdha12
|
UTSW |
18 |
37,153,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5649:Pcdha12
|
UTSW |
18 |
37,155,468 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6211:Pcdha12
|
UTSW |
18 |
37,153,374 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6268:Pcdha12
|
UTSW |
18 |
37,155,477 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6793:Pcdha12
|
UTSW |
18 |
37,155,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6999:Pcdha12
|
UTSW |
18 |
37,153,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7065:Pcdha12
|
UTSW |
18 |
37,154,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7192:Pcdha12
|
UTSW |
18 |
37,153,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7411:Pcdha12
|
UTSW |
18 |
37,154,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7486:Pcdha12
|
UTSW |
18 |
37,154,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7768:Pcdha12
|
UTSW |
18 |
37,155,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7857:Pcdha12
|
UTSW |
18 |
37,155,468 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7940:Pcdha12
|
UTSW |
18 |
37,153,409 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8271:Pcdha12
|
UTSW |
18 |
37,154,953 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8306:Pcdha12
|
UTSW |
18 |
37,155,638 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8405:Pcdha12
|
UTSW |
18 |
37,154,250 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8475:Pcdha12
|
UTSW |
18 |
37,154,136 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8715:Pcdha12
|
UTSW |
18 |
37,153,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Pcdha12
|
UTSW |
18 |
37,154,736 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9307:Pcdha12
|
UTSW |
18 |
37,153,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9407:Pcdha12
|
UTSW |
18 |
37,153,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9450:Pcdha12
|
UTSW |
18 |
37,153,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9460:Pcdha12
|
UTSW |
18 |
37,153,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9495:Pcdha12
|
UTSW |
18 |
37,155,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Pcdha12
|
UTSW |
18 |
37,155,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9577:Pcdha12
|
UTSW |
18 |
37,155,126 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9596:Pcdha12
|
UTSW |
18 |
37,154,302 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9673:Pcdha12
|
UTSW |
18 |
37,155,234 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATATCTTCCCTTGCTTCGGAG -3'
(R):5'- TCATGAAGGAGCAAATGTTAGACAC -3'
Sequencing Primer
(F):5'- TTCGGAGAGCACAGCATCTTC -3'
(R):5'- AGGAGCAAATGTTAGACACAATAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation