Incidental Mutation 'R4504:Pcdhga8'
ID |
331947 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhga8
|
Ensembl Gene |
ENSMUSG00000103897 |
Gene Name |
protocadherin gamma subfamily A, 8 |
Synonyms |
|
MMRRC Submission |
041755-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R4504 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37858759-37974926 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 37949816 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 411
(V411L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068846
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000044851]
[ENSMUST00000055935]
[ENSMUST00000061279]
[ENSMUST00000066140]
[ENSMUST00000066149]
[ENSMUST00000192511]
[ENSMUST00000115661]
[ENSMUST00000193414]
[ENSMUST00000193404]
[ENSMUST00000073447]
[ENSMUST00000076807]
[ENSMUST00000192931]
[ENSMUST00000192535]
[ENSMUST00000192103]
[ENSMUST00000091935]
[ENSMUST00000208907]
[ENSMUST00000194544]
[ENSMUST00000195363]
[ENSMUST00000195764]
[ENSMUST00000193869]
[ENSMUST00000195112]
[ENSMUST00000195823]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000194928]
[ENSMUST00000195239]
[ENSMUST00000193941]
[ENSMUST00000193890]
|
AlphaFold |
Q91XY0 |
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 benign
Transcript: ENSMUST00000044851
|
SMART Domains |
Protein: ENSMUSP00000036359 Gene: ENSMUSG00000102428
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: ENSMUST00000055935
|
SMART Domains |
Protein: ENSMUSP00000060949 Gene: ENSMUSG00000102543
Domain | Start | End | E-Value | Type |
CA
|
54 |
131 |
3.02e-2 |
SMART |
CA
|
155 |
240 |
6.84e-18 |
SMART |
CA
|
264 |
348 |
7.91e-23 |
SMART |
CA
|
372 |
452 |
4.4e-21 |
SMART |
CA
|
476 |
562 |
3.31e-25 |
SMART |
CA
|
592 |
674 |
5.69e-15 |
SMART |
Pfam:Cadherin_C_2
|
689 |
791 |
1.1e-18 |
PFAM |
low complexity region
|
808 |
819 |
N/A |
INTRINSIC |
Pfam:Cadherin_tail
|
821 |
944 |
8.3e-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 damaging
Transcript: ENSMUST00000066140
AA Change: V411L
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000068846 Gene: ENSMUSG00000023036 AA Change: V411L
Domain | Start | End | E-Value | Type |
CA
|
52 |
134 |
4.39e-1 |
SMART |
CA
|
158 |
243 |
1.25e-20 |
SMART |
CA
|
267 |
351 |
5.09e-26 |
SMART |
CA
|
375 |
456 |
1.26e-21 |
SMART |
CA
|
480 |
566 |
6.56e-29 |
SMART |
CA
|
596 |
674 |
6.95e-10 |
SMART |
transmembrane domain
|
693 |
715 |
N/A |
INTRINSIC |
low complexity region
|
922 |
941 |
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 |
noncoding transcript
Transcript: ENSMUST00000192875
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193222
|
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: 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: 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: 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: 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: ENSMUST00000076807
|
SMART Domains |
Protein: ENSMUSP00000076085 Gene: ENSMUSG00000102918
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
26 |
N/A |
INTRINSIC |
CA
|
51 |
133 |
8.56e-3 |
SMART |
CA
|
157 |
242 |
1.78e-16 |
SMART |
CA
|
266 |
350 |
2.18e-25 |
SMART |
CA
|
374 |
455 |
7.09e-25 |
SMART |
CA
|
479 |
565 |
1.87e-24 |
SMART |
CA
|
593 |
674 |
1.79e-12 |
SMART |
Pfam:Cadherin_C_2
|
689 |
774 |
3.9e-14 |
PFAM |
Pfam:Cadherin_tail
|
811 |
934 |
8.2e-38 |
PFAM |
|
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: 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: ENSMUST00000192103
|
SMART Domains |
Protein: ENSMUSP00000141611 Gene: ENSMUSG00000102918
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
Pfam:Cadherin_2
|
31 |
78 |
2.3e-13 |
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: ENSMUST00000208907
|
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: 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: 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: 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: ENSMUST00000195239
|
SMART Domains |
Protein: ENSMUSP00000141244 Gene: ENSMUSG00000023036
Domain | Start | End | E-Value | Type |
low complexity region
|
112 |
131 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193941
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193890
|
Meta Mutation Damage Score |
0.2379 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
100% (45/45) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503E14Rik |
A |
G |
14: 44,407,899 (GRCm39) |
S45P |
probably damaging |
Het |
Adgrg4 |
C |
T |
X: 55,961,802 (GRCm39) |
R1124C |
possibly damaging |
Het |
Anxa13 |
T |
C |
15: 58,228,052 (GRCm39) |
|
noncoding transcript |
Het |
Arhgap32 |
C |
A |
9: 32,093,135 (GRCm39) |
|
probably null |
Het |
Carm1 |
T |
C |
9: 21,480,822 (GRCm39) |
F99L |
probably damaging |
Het |
Dennd1b |
A |
G |
1: 139,013,665 (GRCm39) |
E253G |
possibly damaging |
Het |
Dsg4 |
A |
G |
18: 20,594,493 (GRCm39) |
I541V |
probably benign |
Het |
Dstyk |
A |
G |
1: 132,362,127 (GRCm39) |
T186A |
possibly damaging |
Het |
Ear1 |
A |
T |
14: 44,056,721 (GRCm39) |
V49D |
probably benign |
Het |
Epha10 |
A |
G |
4: 124,809,480 (GRCm39) |
|
probably benign |
Het |
Fbh1 |
A |
G |
2: 11,753,828 (GRCm39) |
V838A |
possibly damaging |
Het |
Fndc8 |
T |
A |
11: 82,783,226 (GRCm39) |
M69K |
probably benign |
Het |
Golga1 |
T |
C |
2: 38,913,466 (GRCm39) |
I482V |
probably benign |
Het |
Hivep3 |
G |
A |
4: 119,590,990 (GRCm39) |
|
probably benign |
Het |
Igkv13-85 |
A |
G |
6: 68,907,356 (GRCm39) |
F82L |
probably damaging |
Het |
Itih1 |
G |
A |
14: 30,657,842 (GRCm39) |
R410C |
probably damaging |
Het |
Kcnc2 |
T |
C |
10: 112,291,699 (GRCm39) |
W296R |
probably damaging |
Het |
Kcnq3 |
A |
T |
15: 65,867,191 (GRCm39) |
Y817* |
probably null |
Het |
Kif3b |
T |
C |
2: 153,165,564 (GRCm39) |
|
probably null |
Het |
Krtcap2 |
A |
G |
3: 89,153,563 (GRCm39) |
|
probably benign |
Het |
Lhx5 |
C |
A |
5: 120,578,073 (GRCm39) |
H298N |
possibly damaging |
Het |
Notch1 |
A |
G |
2: 26,362,189 (GRCm39) |
V1022A |
probably benign |
Het |
Npc1l1 |
A |
G |
11: 6,178,741 (GRCm39) |
L223S |
possibly damaging |
Het |
Or11m3 |
T |
C |
15: 98,396,015 (GRCm39) |
F221L |
probably benign |
Het |
Or4c10 |
C |
T |
2: 89,760,695 (GRCm39) |
P181S |
possibly damaging |
Het |
Or8a1b |
C |
T |
9: 37,622,760 (GRCm39) |
V272I |
probably benign |
Het |
Pbxip1 |
A |
G |
3: 89,353,690 (GRCm39) |
D281G |
possibly damaging |
Het |
Pcsk5 |
C |
T |
19: 17,429,319 (GRCm39) |
C1553Y |
probably damaging |
Het |
Pdgfc |
A |
C |
3: 81,082,298 (GRCm39) |
M164L |
probably benign |
Het |
Pdzd8 |
T |
C |
19: 59,333,880 (GRCm39) |
Y47C |
probably damaging |
Het |
Pip5k1c |
T |
A |
10: 81,150,945 (GRCm39) |
I633N |
probably damaging |
Het |
Pkn1 |
G |
A |
8: 84,419,556 (GRCm39) |
R16* |
probably null |
Het |
Pole2 |
A |
G |
12: 69,269,242 (GRCm39) |
V85A |
probably benign |
Het |
Ppp4c |
A |
C |
7: 126,386,637 (GRCm39) |
L150R |
probably damaging |
Het |
Pramel25 |
G |
C |
4: 143,520,553 (GRCm39) |
E102Q |
probably benign |
Het |
Ric8a |
A |
G |
7: 140,438,429 (GRCm39) |
I223V |
probably benign |
Het |
Rnf144a |
T |
A |
12: 26,377,302 (GRCm39) |
R92S |
probably benign |
Het |
Sbno2 |
C |
A |
10: 79,896,326 (GRCm39) |
R898L |
possibly damaging |
Het |
Scnn1b |
A |
C |
7: 121,511,698 (GRCm39) |
N370T |
probably damaging |
Het |
Taar3 |
A |
G |
10: 23,825,471 (GRCm39) |
I6V |
possibly damaging |
Het |
Vps13a |
T |
C |
19: 16,672,866 (GRCm39) |
E1302G |
possibly damaging |
Het |
|
Other mutations in Pcdhga8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
G1patch:Pcdhga8
|
UTSW |
18 |
37,860,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R4017:Pcdhga8
|
UTSW |
18 |
37,948,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R4182:Pcdhga8
|
UTSW |
18 |
37,860,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R4506:Pcdhga8
|
UTSW |
18 |
37,949,816 (GRCm39) |
missense |
probably damaging |
0.97 |
R4850:Pcdhga8
|
UTSW |
18 |
37,860,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R4851:Pcdhga8
|
UTSW |
18 |
37,949,457 (GRCm39) |
missense |
probably damaging |
0.99 |
R4857:Pcdhga8
|
UTSW |
18 |
37,859,967 (GRCm39) |
missense |
probably damaging |
1.00 |
R4902:Pcdhga8
|
UTSW |
18 |
37,948,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R5235:Pcdhga8
|
UTSW |
18 |
37,860,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R5254:Pcdhga8
|
UTSW |
18 |
37,859,673 (GRCm39) |
missense |
probably benign |
0.01 |
R5646:Pcdhga8
|
UTSW |
18 |
37,859,823 (GRCm39) |
missense |
probably benign |
|
R5943:Pcdhga8
|
UTSW |
18 |
37,949,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R6115:Pcdhga8
|
UTSW |
18 |
37,860,596 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6130:Pcdhga8
|
UTSW |
18 |
37,860,580 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6631:Pcdhga8
|
UTSW |
18 |
37,860,109 (GRCm39) |
missense |
probably benign |
|
R6725:Pcdhga8
|
UTSW |
18 |
37,860,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R6915:Pcdhga8
|
UTSW |
18 |
37,858,998 (GRCm39) |
missense |
probably benign |
0.01 |
R7000:Pcdhga8
|
UTSW |
18 |
37,859,946 (GRCm39) |
missense |
probably benign |
0.11 |
R7027:Pcdhga8
|
UTSW |
18 |
37,860,164 (GRCm39) |
missense |
probably benign |
|
R7406:Pcdhga8
|
UTSW |
18 |
37,859,238 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7481:Pcdhga8
|
UTSW |
18 |
37,860,990 (GRCm39) |
missense |
probably benign |
|
R7491:Pcdhga8
|
UTSW |
18 |
37,860,483 (GRCm39) |
missense |
probably benign |
0.00 |
R7625:Pcdhga8
|
UTSW |
18 |
37,859,954 (GRCm39) |
missense |
probably benign |
0.05 |
R7712:Pcdhga8
|
UTSW |
18 |
37,860,102 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7740:Pcdhga8
|
UTSW |
18 |
37,860,470 (GRCm39) |
missense |
probably benign |
0.22 |
R7912:Pcdhga8
|
UTSW |
18 |
37,859,896 (GRCm39) |
missense |
probably benign |
0.00 |
R7917:Pcdhga8
|
UTSW |
18 |
37,860,669 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8017:Pcdhga8
|
UTSW |
18 |
37,860,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R8037:Pcdhga8
|
UTSW |
18 |
37,860,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R8066:Pcdhga8
|
UTSW |
18 |
37,859,435 (GRCm39) |
missense |
probably benign |
0.00 |
R8228:Pcdhga8
|
UTSW |
18 |
37,861,236 (GRCm39) |
missense |
probably benign |
|
R8744:Pcdhga8
|
UTSW |
18 |
37,860,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R8938:Pcdhga8
|
UTSW |
18 |
37,859,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R9013:Pcdhga8
|
UTSW |
18 |
37,858,997 (GRCm39) |
missense |
probably benign |
|
R9160:Pcdhga8
|
UTSW |
18 |
37,860,465 (GRCm39) |
missense |
probably damaging |
1.00 |
R9178:Pcdhga8
|
UTSW |
18 |
37,860,892 (GRCm39) |
missense |
probably benign |
0.06 |
R9192:Pcdhga8
|
UTSW |
18 |
37,859,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R9360:Pcdhga8
|
UTSW |
18 |
37,859,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R9650:Pcdhga8
|
UTSW |
18 |
37,860,519 (GRCm39) |
missense |
probably benign |
0.31 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACCTCTGAGCTTGGAACTC -3'
(R):5'- ACGCGTTTAAGCCAGAGTC -3'
Sequencing Primer
(F):5'- CTGAGCTTGGAACTCTACCAG -3'
(R):5'- CCCTGGGCGATTGTTCTCAG -3'
|
Posted On |
2015-07-21 |