Incidental Mutation 'R5615:Pcdhga12'
ID | 438220 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhga12
|
Ensembl Gene |
ENSMUSG00000102428 |
Gene Name | protocadherin gamma subfamily A, 12 |
Synonyms | pc2c, Pcdh13 |
Accession Numbers | |
Is this an essential gene? |
Probably non essential (E-score: 0.114)
|
Stock # | R5615 (G1)
|
Quality Score | 225 |
Status |
Not validated
|
Chromosome | 18 |
Chromosomal Location | 37765580-37841873 bp(+) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
T to G
at 37768079 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 655
(S655A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036359
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000044851]
[ENSMUST00000061279]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000192511]
[ENSMUST00000192535]
[ENSMUST00000192931]
[ENSMUST00000208907]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000193414]
[ENSMUST00000194544]
[ENSMUST00000195363]
[ENSMUST00000195764]
[ENSMUST00000193869]
[ENSMUST00000195112]
[ENSMUST00000195823]
[ENSMUST00000193404]
[ENSMUST00000194928]
|
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 |
probably damaging
Transcript: ENSMUST00000044851
AA Change: S655A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000036359 Gene: ENSMUSG00000102428 AA Change: S655A
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 |
noncoding transcript
Transcript: ENSMUST00000180922
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192501
|
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 |
noncoding transcript
Transcript: ENSMUST00000193045
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208907
|
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: 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: 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: 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: 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: 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: ENSMUST00000193984
|
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: 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: 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 |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
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 |
0610010F05Rik |
A |
T |
11: 23,606,759 |
L407H |
probably damaging |
Het |
Abca12 |
A |
T |
1: 71,307,059 |
L884H |
probably damaging |
Het |
Ahr |
A |
G |
12: 35,503,885 |
V745A |
probably benign |
Het |
Ankrd17 |
A |
T |
5: 90,283,436 |
S830T |
possibly damaging |
Het |
Aox1 |
A |
G |
1: 58,096,966 |
T1123A |
probably benign |
Het |
Arhgef11 |
T |
C |
3: 87,722,485 |
|
probably null |
Het |
Bcas3 |
T |
A |
11: 85,470,761 |
C250S |
probably damaging |
Het |
Bckdk |
T |
C |
7: 127,907,317 |
I272T |
probably damaging |
Het |
Cacna1e |
T |
C |
1: 154,412,170 |
K1897E |
probably damaging |
Het |
Cd180 |
A |
T |
13: 102,706,203 |
I586F |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,531,150 |
D1121G |
probably damaging |
Het |
Clasrp |
A |
G |
7: 19,586,447 |
|
probably benign |
Het |
Col27a1 |
G |
T |
4: 63,281,114 |
K912N |
probably damaging |
Het |
Dock4 |
G |
T |
12: 40,649,480 |
R231L |
probably benign |
Het |
Ell |
G |
A |
8: 70,590,732 |
S505N |
probably benign |
Het |
Ephb6 |
A |
G |
6: 41,619,291 |
T833A |
probably benign |
Het |
Hemk1 |
T |
A |
9: 107,330,824 |
|
probably null |
Het |
Hjurp |
GT |
GTT |
1: 88,266,524 |
|
probably null |
Het |
Hspa12a |
T |
C |
19: 58,804,650 |
I368V |
possibly damaging |
Het |
Igkv3-3 |
A |
T |
6: 70,687,230 |
T19S |
probably benign |
Het |
Itpr1 |
G |
A |
6: 108,488,600 |
A2158T |
possibly damaging |
Het |
Lancl2 |
T |
C |
6: 57,722,511 |
Y104H |
probably damaging |
Het |
Leng8 |
G |
T |
7: 4,144,958 |
E634* |
probably null |
Het |
Lrrk1 |
A |
T |
7: 66,287,615 |
C930S |
probably damaging |
Het |
Lvrn |
C |
T |
18: 46,850,328 |
S46L |
possibly damaging |
Het |
Mcidas |
G |
A |
13: 112,997,425 |
V148I |
probably benign |
Het |
Mprip |
A |
T |
11: 59,758,487 |
T1006S |
probably benign |
Het |
Mrgprb3 |
T |
A |
7: 48,643,486 |
M106L |
probably benign |
Het |
Mroh2a |
GCCC |
GC |
1: 88,232,257 |
|
probably null |
Het |
Mtor |
G |
A |
4: 148,538,276 |
V1938I |
possibly damaging |
Het |
Muc2 |
A |
G |
7: 141,691,203 |
D46G |
probably damaging |
Het |
Nfkb2 |
G |
T |
19: 46,307,567 |
E170D |
probably benign |
Het |
Olfr1113 |
T |
A |
2: 87,213,739 |
F282L |
probably benign |
Het |
Olfr811 |
A |
T |
10: 129,801,767 |
C253S |
probably damaging |
Het |
Osbp2 |
C |
T |
11: 3,863,356 |
G171D |
probably benign |
Het |
Otud6b |
A |
T |
4: 14,818,187 |
M238K |
possibly damaging |
Het |
Pcdhac2 |
G |
A |
18: 37,146,423 |
G819R |
probably benign |
Het |
Pcdhac2 |
G |
T |
18: 37,146,424 |
G819V |
probably benign |
Het |
Pkd1l3 |
A |
G |
8: 109,630,210 |
I756V |
probably benign |
Het |
Plekhd1 |
T |
A |
12: 80,720,590 |
S251T |
probably damaging |
Het |
Ppp2r1a |
A |
T |
17: 20,958,987 |
T96S |
probably benign |
Het |
Qser1 |
A |
C |
2: 104,789,694 |
S258A |
possibly damaging |
Het |
Rsph4a |
G |
A |
10: 33,909,328 |
A412T |
probably benign |
Het |
Sass6 |
T |
A |
3: 116,607,486 |
C159S |
probably benign |
Het |
Scaf4 |
T |
C |
16: 90,251,960 |
Q322R |
unknown |
Het |
Sema6d |
C |
T |
2: 124,656,901 |
H244Y |
probably damaging |
Het |
Sigirr |
T |
G |
7: 141,092,719 |
L163F |
probably damaging |
Het |
Spata31d1c |
C |
A |
13: 65,035,264 |
L207I |
possibly damaging |
Het |
Tacstd2 |
A |
G |
6: 67,535,049 |
F220L |
probably damaging |
Het |
Tdpoz4 |
A |
T |
3: 93,797,499 |
T368S |
probably benign |
Het |
Tnxb |
C |
A |
17: 34,683,418 |
Q1082K |
probably damaging |
Het |
Trim41 |
GCCTAGGCGCCCA |
G |
11: 48,807,365 |
|
probably benign |
Het |
Trpm6 |
C |
T |
19: 18,829,933 |
R1014C |
probably damaging |
Het |
Ugt1a10 |
TTCATCA |
TTCA |
1: 88,216,158 |
|
probably benign |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,290,932 |
|
probably null |
Het |
Vmn2r61 |
A |
G |
7: 42,300,493 |
E779G |
probably damaging |
Het |
Vmn2r61 |
T |
A |
7: 42,267,253 |
M430K |
probably benign |
Het |
Zfp599 |
T |
C |
9: 22,253,869 |
D70G |
probably benign |
Het |
Zmym1 |
A |
T |
4: 127,049,398 |
I301N |
probably damaging |
Het |
|
Other mutations in Pcdhga12 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCTATCTGGTGACAAAGG -3'
(R):5'- AAGTGAGAGGCTGCAACGTC -3'
Sequencing Primer
(F):5'- TGGCAGTGGACAGAGACTC -3'
(R):5'- GGCTGCAACGTCAGCCAATC -3'
|
Posted On | 2016-10-26 |