Incidental Mutation 'R8354:Pcdhga12'
| ID |
645718 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga12
|
| Ensembl Gene |
ENSMUSG00000102428 |
| Gene Name |
protocadherin gamma subfamily A, 12 |
| Synonyms |
Pcdh13, pc2c |
| MMRRC Submission |
067806-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R8354 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37898633-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37901190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 674
(D674V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036359
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000044851]
[ENSMUST00000061279]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000192511]
[ENSMUST00000192535]
[ENSMUST00000192931]
[ENSMUST00000193404]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000194544]
[ENSMUST00000194928]
[ENSMUST00000195112]
[ENSMUST00000195363]
[ENSMUST00000195764]
[ENSMUST00000195823]
[ENSMUST00000208907]
|
| AlphaFold |
Q91XY7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003599
|
| SMART Domains |
Protein: ENSMUSP00000003599
Gene: ENSMUSG00000103088
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
47 |
131 |
8.06e-6 |
SMART |
|
CA
|
155 |
240 |
2.29e-19 |
SMART |
|
CA
|
264 |
345 |
3.36e-26 |
SMART |
|
CA
|
369 |
450 |
4.94e-24 |
SMART |
|
CA
|
474 |
560 |
7.6e-25 |
SMART |
|
CA
|
591 |
672 |
9.18e-10 |
SMART |
|
Pfam:Cadherin_C_2
|
687 |
768 |
3.5e-20 |
PFAM |
|
Pfam:Cadherin_tail
|
807 |
930 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044851
AA Change: D674V
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000036359
Gene: ENSMUSG00000102428
AA Change: D674V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
CA
|
45 |
131 |
3.28e-1 |
SMART |
|
CA
|
155 |
240 |
1.8e-17 |
SMART |
|
CA
|
264 |
345 |
9.22e-24 |
SMART |
|
CA
|
369 |
450 |
1.28e-22 |
SMART |
|
CA
|
474 |
560 |
1.09e-25 |
SMART |
|
CA
|
591 |
669 |
9.24e-15 |
SMART |
|
Pfam:Cadherin_C_2
|
688 |
772 |
3.6e-25 |
PFAM |
|
Pfam:Cadherin_tail
|
809 |
932 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061279
|
| SMART Domains |
Protein: ENSMUSP00000058362
Gene: ENSMUSG00000102742
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
3.23e-2 |
SMART |
|
CA
|
155 |
240 |
2.22e-17 |
SMART |
|
CA
|
264 |
345 |
3.36e-26 |
SMART |
|
CA
|
369 |
450 |
7.09e-25 |
SMART |
|
CA
|
474 |
560 |
3.55e-25 |
SMART |
|
CA
|
591 |
669 |
2.53e-12 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
914 |
933 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066149
|
| SMART Domains |
Protein: ENSMUSP00000067728
Gene: ENSMUSG00000103897
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
31 |
131 |
4.84e-2 |
SMART |
|
CA
|
155 |
240 |
1.48e-22 |
SMART |
|
CA
|
264 |
345 |
1.14e-23 |
SMART |
|
CA
|
369 |
450 |
9.44e-21 |
SMART |
|
CA
|
474 |
560 |
1.03e-26 |
SMART |
|
CA
|
591 |
669 |
3.64e-13 |
SMART |
|
Pfam:Cadherin_C_2
|
688 |
772 |
3e-25 |
PFAM |
|
Pfam:Cadherin_tail
|
809 |
932 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073447
|
| SMART Domains |
Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
CA
|
42 |
128 |
2.15e-2 |
SMART |
|
CA
|
152 |
237 |
4.8e-13 |
SMART |
|
CA
|
261 |
342 |
9.36e-25 |
SMART |
|
CA
|
366 |
447 |
6.62e-25 |
SMART |
|
CA
|
471 |
557 |
6.72e-26 |
SMART |
|
CA
|
588 |
666 |
2.15e-15 |
SMART |
|
Pfam:Cadherin_C_2
|
685 |
768 |
4.8e-24 |
PFAM |
|
Pfam:Cadherin_tail
|
805 |
928 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091935
|
| SMART Domains |
Protein: ENSMUSP00000089555
Gene: ENSMUSG00000102440
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
32 |
132 |
8.37e-3 |
SMART |
|
CA
|
156 |
241 |
5.51e-22 |
SMART |
|
CA
|
265 |
346 |
8.27e-26 |
SMART |
|
CA
|
370 |
451 |
1.4e-23 |
SMART |
|
CA
|
475 |
561 |
2.97e-27 |
SMART |
|
CA
|
592 |
670 |
1.18e-12 |
SMART |
|
Pfam:Cadherin_C_2
|
688 |
772 |
3.9e-24 |
PFAM |
|
Pfam:Cadherin_tail
|
809 |
932 |
8.1e-38 |
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: ENSMUST00000192511
|
| SMART Domains |
Protein: ENSMUSP00000141704
Gene: ENSMUSG00000103472
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
47 |
133 |
1.57e-2 |
SMART |
|
CA
|
157 |
242 |
3.24e-19 |
SMART |
|
CA
|
266 |
347 |
3.21e-23 |
SMART |
|
CA
|
371 |
452 |
9.08e-23 |
SMART |
|
CA
|
476 |
562 |
1.32e-24 |
SMART |
|
CA
|
593 |
671 |
3.5e-15 |
SMART |
|
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
|
low complexity region
|
916 |
935 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192535
|
| SMART Domains |
Protein: ENSMUSP00000142010
Gene: ENSMUSG00000103749
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
25 |
N/A |
INTRINSIC |
|
CA
|
56 |
131 |
8e-3 |
SMART |
|
CA
|
155 |
240 |
2.49e-20 |
SMART |
|
CA
|
264 |
341 |
4.97e-29 |
SMART |
|
CA
|
365 |
446 |
1.09e-25 |
SMART |
|
CA
|
470 |
556 |
1.75e-24 |
SMART |
|
CA
|
587 |
668 |
9.18e-10 |
SMART |
|
transmembrane domain
|
687 |
709 |
N/A |
INTRINSIC |
|
low complexity region
|
907 |
926 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192931
|
| SMART Domains |
Protein: ENSMUSP00000141348
Gene: ENSMUSG00000103037
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
36 |
119 |
8e-3 |
SMART |
|
CA
|
143 |
228 |
1.34e-20 |
SMART |
|
CA
|
252 |
333 |
1.52e-24 |
SMART |
|
CA
|
357 |
438 |
9.22e-24 |
SMART |
|
CA
|
462 |
548 |
1.24e-24 |
SMART |
|
CA
|
579 |
660 |
1.3e-9 |
SMART |
|
transmembrane domain
|
679 |
701 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
918 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193404
|
| SMART Domains |
Protein: ENSMUSP00000141359
Gene: ENSMUSG00000102222
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
43 |
129 |
2.76e-2 |
SMART |
|
CA
|
153 |
238 |
1.16e-20 |
SMART |
|
CA
|
262 |
343 |
1.25e-25 |
SMART |
|
CA
|
367 |
448 |
4.75e-26 |
SMART |
|
CA
|
472 |
558 |
3.69e-23 |
SMART |
|
CA
|
589 |
667 |
3.84e-12 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193414
|
| SMART Domains |
Protein: ENSMUSP00000141893
Gene: ENSMUSG00000103567
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
2.45e-1 |
SMART |
|
CA
|
155 |
240 |
1.05e-18 |
SMART |
|
CA
|
264 |
345 |
6.52e-24 |
SMART |
|
CA
|
369 |
450 |
5.99e-23 |
SMART |
|
CA
|
474 |
560 |
6.99e-24 |
SMART |
|
CA
|
591 |
669 |
5.31e-15 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
932 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193869
|
| SMART Domains |
Protein: ENSMUSP00000141482
Gene: ENSMUSG00000103332
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
45 |
131 |
1.64e-2 |
SMART |
|
CA
|
155 |
240 |
6.42e-23 |
SMART |
|
CA
|
264 |
345 |
1.76e-20 |
SMART |
|
CA
|
369 |
450 |
2.27e-23 |
SMART |
|
CA
|
474 |
560 |
1.5e-23 |
SMART |
|
CA
|
591 |
669 |
1.17e-16 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
931 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194190
|
| SMART Domains |
Protein: ENSMUSP00000142062
Gene: ENSMUSG00000103144
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
31 |
131 |
3.16e-2 |
SMART |
|
CA
|
155 |
240 |
5.39e-16 |
SMART |
|
CA
|
264 |
345 |
6.72e-26 |
SMART |
|
CA
|
369 |
450 |
1.32e-24 |
SMART |
|
CA
|
474 |
560 |
4.17e-22 |
SMART |
|
CA
|
591 |
669 |
4.48e-13 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
931 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194418
|
| SMART Domains |
Protein: ENSMUSP00000142140
Gene: ENSMUSG00000103677
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
44 |
130 |
1.64e-2 |
SMART |
|
CA
|
154 |
239 |
3.93e-18 |
SMART |
|
CA
|
263 |
344 |
5.22e-23 |
SMART |
|
CA
|
368 |
449 |
5.02e-25 |
SMART |
|
CA
|
473 |
559 |
2.07e-26 |
SMART |
|
CA
|
590 |
668 |
6.84e-18 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
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: ENSMUST00000194928
|
| SMART Domains |
Protein: ENSMUSP00000141997
Gene: ENSMUSG00000104063
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
47 |
131 |
2.48e-6 |
SMART |
|
CA
|
155 |
240 |
1.57e-17 |
SMART |
|
CA
|
264 |
343 |
1.29e-27 |
SMART |
|
CA
|
367 |
448 |
9.14e-28 |
SMART |
|
CA
|
472 |
558 |
1.24e-24 |
SMART |
|
CA
|
589 |
670 |
3.73e-10 |
SMART |
|
transmembrane domain
|
689 |
711 |
N/A |
INTRINSIC |
|
low complexity region
|
716 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
929 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195112
|
| SMART Domains |
Protein: ENSMUSP00000141449
Gene: ENSMUSG00000102748
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
24 |
130 |
8.18e-3 |
SMART |
|
CA
|
154 |
239 |
1.39e-18 |
SMART |
|
CA
|
263 |
344 |
7.91e-23 |
SMART |
|
CA
|
368 |
449 |
2.27e-23 |
SMART |
|
CA
|
473 |
559 |
1.24e-24 |
SMART |
|
CA
|
590 |
671 |
1.3e-9 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
909 |
928 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195363
|
| SMART Domains |
Protein: ENSMUSP00000142227
Gene: ENSMUSG00000103585
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
25 |
N/A |
INTRINSIC |
|
CA
|
56 |
131 |
1.47e-2 |
SMART |
|
CA
|
155 |
240 |
1.23e-19 |
SMART |
|
CA
|
264 |
343 |
5.54e-27 |
SMART |
|
CA
|
367 |
448 |
5.09e-26 |
SMART |
|
CA
|
472 |
558 |
1.98e-23 |
SMART |
|
CA
|
589 |
670 |
1.3e-9 |
SMART |
|
transmembrane domain
|
689 |
711 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
912 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195764
|
| SMART Domains |
Protein: ENSMUSP00000142272
Gene: ENSMUSG00000103081
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
57 |
132 |
1.5e-4 |
SMART |
|
CA
|
156 |
241 |
1.2e-20 |
SMART |
|
CA
|
265 |
346 |
7.8e-29 |
SMART |
|
CA
|
370 |
451 |
1.7e-26 |
SMART |
|
CA
|
475 |
561 |
2.2e-26 |
SMART |
|
CA
|
592 |
673 |
6.4e-12 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195823
|
| SMART Domains |
Protein: ENSMUSP00000141803
Gene: ENSMUSG00000103793
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
CA
|
45 |
131 |
2.41e-2 |
SMART |
|
CA
|
155 |
240 |
5.77e-16 |
SMART |
|
CA
|
264 |
345 |
1.1e-21 |
SMART |
|
CA
|
369 |
450 |
2.75e-22 |
SMART |
|
low complexity region
|
453 |
462 |
N/A |
INTRINSIC |
|
CA
|
474 |
560 |
9.22e-24 |
SMART |
|
CA
|
591 |
669 |
2.4e-13 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
932 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208907
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| 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 gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
C |
A |
17: 46,635,103 (GRCm39) |
G300V |
possibly damaging |
Het |
| Adgrg7 |
C |
G |
16: 56,616,045 (GRCm39) |
|
probably benign |
Het |
| Agt |
G |
A |
8: 125,290,842 (GRCm39) |
T155M |
probably benign |
Het |
| Atp8b3 |
A |
G |
10: 80,361,633 (GRCm39) |
V763A |
probably benign |
Het |
| Btn1a1 |
C |
A |
13: 23,648,420 (GRCm39) |
V138L |
probably benign |
Het |
| Cd163 |
A |
T |
6: 124,305,924 (GRCm39) |
N1109I |
probably benign |
Het |
| Cideb |
T |
A |
14: 55,992,598 (GRCm39) |
Q106L |
possibly damaging |
Het |
| Cntn1 |
A |
G |
15: 92,130,130 (GRCm39) |
T126A |
probably benign |
Het |
| Dnai3 |
T |
C |
3: 145,802,982 (GRCm39) |
K70E |
probably damaging |
Het |
| Elfn1 |
T |
C |
5: 139,957,226 (GRCm39) |
Y77H |
probably damaging |
Het |
| Eml3 |
A |
G |
19: 8,912,358 (GRCm39) |
H386R |
probably damaging |
Het |
| Fbxo21 |
A |
G |
5: 118,133,479 (GRCm39) |
D413G |
probably damaging |
Het |
| Fzd1 |
T |
C |
5: 4,807,336 (GRCm39) |
Q82R |
probably benign |
Het |
| Gast |
T |
C |
11: 100,227,394 (GRCm39) |
L29P |
probably benign |
Het |
| Glb1l2 |
C |
A |
9: 26,717,713 (GRCm39) |
|
probably benign |
Het |
| Gm1110 |
C |
G |
9: 26,794,576 (GRCm39) |
Q483H |
probably benign |
Het |
| Gm1110 |
T |
A |
9: 26,794,577 (GRCm39) |
Q483L |
probably benign |
Het |
| Gpc6 |
T |
C |
14: 117,163,391 (GRCm39) |
L15P |
probably damaging |
Het |
| Hagh |
C |
A |
17: 25,076,536 (GRCm39) |
S161* |
probably null |
Het |
| Hrh1 |
A |
G |
6: 114,457,814 (GRCm39) |
D365G |
probably benign |
Het |
| Ighv1-36 |
A |
T |
12: 114,843,560 (GRCm39) |
M100K |
probably damaging |
Het |
| Itgb8 |
A |
T |
12: 119,134,513 (GRCm39) |
V518D |
probably benign |
Het |
| Krt82 |
T |
C |
15: 101,450,238 (GRCm39) |
Y486C |
probably damaging |
Het |
| Lmbr1l |
A |
G |
15: 98,810,357 (GRCm39) |
S85P |
probably damaging |
Het |
| Met |
A |
G |
6: 17,491,768 (GRCm39) |
S177G |
probably damaging |
Het |
| Myl9 |
T |
A |
2: 156,623,048 (GRCm39) |
I162N |
possibly damaging |
Het |
| Npat |
T |
A |
9: 53,478,251 (GRCm39) |
N973K |
possibly damaging |
Het |
| Or5p68 |
A |
T |
7: 107,945,889 (GRCm39) |
C100S |
probably damaging |
Het |
| Phtf1 |
T |
A |
3: 103,911,765 (GRCm39) |
N702K |
probably damaging |
Het |
| Plaa |
A |
T |
4: 94,457,714 (GRCm39) |
I752N |
probably damaging |
Het |
| Pnpla2 |
T |
C |
7: 141,038,011 (GRCm39) |
C194R |
probably damaging |
Het |
| Rnaseh2a |
T |
C |
8: 85,691,776 (GRCm39) |
N133S |
probably benign |
Het |
| Rps6ka1 |
T |
A |
4: 133,575,864 (GRCm39) |
Q685L |
probably benign |
Het |
| Ryr1 |
C |
A |
7: 28,715,142 (GRCm39) |
G4661C |
unknown |
Het |
| Samd13 |
T |
A |
3: 146,352,157 (GRCm39) |
M65L |
probably benign |
Het |
| Sdr42e2 |
T |
A |
7: 120,430,403 (GRCm39) |
V420E |
possibly damaging |
Het |
| Sec22c |
A |
G |
9: 121,524,721 (GRCm39) |
S21P |
probably damaging |
Het |
| Sh3d19 |
C |
A |
3: 86,014,329 (GRCm39) |
T431K |
probably benign |
Het |
| Sin3b |
A |
G |
8: 73,468,108 (GRCm39) |
M277V |
probably benign |
Het |
| Sis |
T |
C |
3: 72,854,834 (GRCm39) |
T468A |
possibly damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,956,513 (GRCm39) |
N753S |
probably benign |
Het |
| Slitrk6 |
C |
A |
14: 110,989,478 (GRCm39) |
L76F |
probably damaging |
Het |
| Stk3 |
C |
T |
15: 34,876,870 (GRCm39) |
A478T |
probably damaging |
Het |
| Styxl2 |
A |
T |
1: 165,935,702 (GRCm39) |
N165K |
probably damaging |
Het |
| Sugp1 |
C |
A |
8: 70,524,247 (GRCm39) |
Y617* |
probably null |
Het |
| Tinag |
T |
C |
9: 76,938,977 (GRCm39) |
D167G |
probably damaging |
Het |
| Tk2 |
A |
G |
8: 104,967,746 (GRCm39) |
|
probably null |
Het |
| Tmem209 |
A |
T |
6: 30,489,308 (GRCm39) |
V514D |
probably damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,723,320 (GRCm39) |
H260R |
probably benign |
Het |
| Tnfrsf14 |
T |
A |
4: 155,011,112 (GRCm39) |
Y83F |
possibly damaging |
Het |
| Tnfrsf8 |
A |
T |
4: 145,014,553 (GRCm39) |
D285E |
probably benign |
Het |
| Togaram2 |
C |
G |
17: 72,004,873 (GRCm39) |
A310G |
probably benign |
Het |
| Trpv3 |
A |
G |
11: 73,182,448 (GRCm39) |
Y544C |
probably damaging |
Het |
| Ttl |
T |
A |
2: 128,908,104 (GRCm39) |
V13D |
probably damaging |
Het |
| Usp40 |
A |
T |
1: 87,908,694 (GRCm39) |
D602E |
probably benign |
Het |
| Vamp5 |
A |
G |
6: 72,347,376 (GRCm39) |
|
probably benign |
Het |
| Vmn2r65 |
T |
A |
7: 84,589,402 (GRCm39) |
H838L |
possibly damaging |
Het |
| Vps35l |
T |
A |
7: 118,391,795 (GRCm39) |
F493Y |
probably benign |
Het |
| Zfp960 |
T |
A |
17: 17,308,461 (GRCm39) |
Y392N |
probably benign |
Het |
|
| Other mutations in Pcdhga12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R3946:Pcdhga12
|
UTSW |
18 |
37,900,682 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3964:Pcdhga12
|
UTSW |
18 |
37,900,254 (GRCm39) |
missense |
probably benign |
|
|
R4169:Pcdhga12
|
UTSW |
18 |
37,899,467 (GRCm39) |
missense |
probably benign |
|
|
R4363:Pcdhga12
|
UTSW |
18 |
37,899,214 (GRCm39) |
missense |
probably benign |
|
|
R4409:Pcdhga12
|
UTSW |
18 |
37,901,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4754:Pcdhga12
|
UTSW |
18 |
37,899,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4863:Pcdhga12
|
UTSW |
18 |
37,901,334 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4890:Pcdhga12
|
UTSW |
18 |
37,901,290 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5029:Pcdhga12
|
UTSW |
18 |
37,899,864 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5114:Pcdhga12
|
UTSW |
18 |
37,901,160 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5274:Pcdhga12
|
UTSW |
18 |
37,899,475 (GRCm39) |
nonsense |
probably null |
|
|
R5276:Pcdhga12
|
UTSW |
18 |
37,899,728 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5389:Pcdhga12
|
UTSW |
18 |
37,899,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5454:Pcdhga12
|
UTSW |
18 |
37,899,314 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5615:Pcdhga12
|
UTSW |
18 |
37,901,132 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5704:Pcdhga12
|
UTSW |
18 |
37,900,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5825:Pcdhga12
|
UTSW |
18 |
37,901,556 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5982:Pcdhga12
|
UTSW |
18 |
37,901,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6810:Pcdhga12
|
UTSW |
18 |
37,900,232 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7330:Pcdhga12
|
UTSW |
18 |
37,901,439 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7611:Pcdhga12
|
UTSW |
18 |
37,901,478 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7976:Pcdhga12
|
UTSW |
18 |
37,901,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8454:Pcdhga12
|
UTSW |
18 |
37,901,190 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8487:Pcdhga12
|
UTSW |
18 |
37,900,631 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8911:Pcdhga12
|
UTSW |
18 |
37,900,118 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8946:Pcdhga12
|
UTSW |
18 |
37,899,711 (GRCm39) |
missense |
probably benign |
|
|
R9093:Pcdhga12
|
UTSW |
18 |
37,899,931 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9293:Pcdhga12
|
UTSW |
18 |
37,900,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9607:Pcdhga12
|
UTSW |
18 |
37,901,389 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9649:Pcdhga12
|
UTSW |
18 |
37,900,288 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTACCGTCTGCTAAAGGC -3'
(R):5'- AAGTGAGAGGCTGCAACGTC -3'
Sequencing Primer
(F):5'- TCTGCTAAAGGCCAGCGAG -3'
(R):5'- GGCTGCAACGTCAGCCAATC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation