Incidental Mutation 'R8017:Pcdhga8'
ID |
656316 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhga8
|
Ensembl Gene |
ENSMUSG00000103897 |
Gene Name |
protocadherin gamma subfamily A, 8 |
Synonyms |
|
MMRRC Submission |
067457-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R8017 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37858759-37974926 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37860783 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 613
(E613G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067728
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192511]
[ENSMUST00000192535]
[ENSMUST00000192931]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000194544]
[ENSMUST00000195112]
[ENSMUST00000195363]
[ENSMUST00000195823]
|
AlphaFold |
Q91XY0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066149
AA Change: E613G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000067728 Gene: ENSMUSG00000103897 AA Change: E613G
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: 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: 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: 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: 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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
95% (36/38) |
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 |
Aar2 |
T |
G |
2: 156,397,876 (GRCm39) |
I296S |
probably benign |
Het |
Acsl5 |
A |
G |
19: 55,257,228 (GRCm39) |
I42V |
probably benign |
Het |
Adam25 |
T |
A |
8: 41,207,124 (GRCm39) |
M130K |
possibly damaging |
Het |
Atosb |
A |
T |
4: 43,034,413 (GRCm39) |
F394Y |
probably damaging |
Het |
Bcl2l2 |
T |
A |
14: 55,121,840 (GRCm39) |
M1K |
probably null |
Het |
Cdh16 |
T |
C |
8: 105,342,899 (GRCm39) |
N724S |
probably damaging |
Het |
Cfi |
T |
C |
3: 129,648,748 (GRCm39) |
S211P |
probably benign |
Het |
Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
Crybg2 |
T |
A |
4: 133,800,484 (GRCm39) |
V239E |
possibly damaging |
Het |
Dcn |
G |
A |
10: 97,319,397 (GRCm39) |
R58Q |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,877,949 (GRCm39) |
N2678S |
probably benign |
Het |
Dnai7 |
A |
G |
6: 145,140,283 (GRCm39) |
S173P |
probably damaging |
Het |
Fbxo24 |
C |
A |
5: 137,611,073 (GRCm39) |
M572I |
probably benign |
Het |
Hnrnpul1 |
T |
C |
7: 25,447,889 (GRCm39) |
E145G |
probably benign |
Het |
Ica1 |
A |
G |
6: 8,658,286 (GRCm39) |
V277A |
probably benign |
Het |
Idi1 |
G |
A |
13: 8,937,974 (GRCm39) |
S140N |
probably benign |
Het |
Kank1 |
TGCGA |
T |
19: 25,388,568 (GRCm39) |
|
probably null |
Het |
Kank1 |
GCGAACG |
GCG |
19: 25,388,569 (GRCm39) |
|
probably null |
Het |
Kif20b |
T |
C |
19: 34,917,279 (GRCm39) |
V603A |
probably damaging |
Het |
Klc2 |
T |
C |
19: 5,161,867 (GRCm39) |
K276R |
probably benign |
Het |
Lmbrd2 |
T |
A |
15: 9,172,317 (GRCm39) |
N370K |
probably benign |
Het |
Map2k5 |
G |
T |
9: 63,246,403 (GRCm39) |
A108D |
probably damaging |
Het |
Obox2 |
T |
C |
7: 15,130,974 (GRCm39) |
S69P |
possibly damaging |
Het |
Or2w2 |
G |
A |
13: 21,758,648 (GRCm39) |
|
probably benign |
Het |
Or4b1d |
A |
C |
2: 89,969,170 (GRCm39) |
F104L |
probably benign |
Het |
Or4f57 |
G |
A |
2: 111,790,918 (GRCm39) |
P167S |
probably damaging |
Het |
Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
Rab2a |
T |
C |
4: 8,604,444 (GRCm39) |
|
probably null |
Het |
Rsph4a |
A |
C |
10: 33,785,455 (GRCm39) |
R455S |
probably damaging |
Het |
Spata31f1a |
T |
C |
4: 42,850,840 (GRCm39) |
T439A |
probably damaging |
Het |
St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
Tmem151a |
T |
C |
19: 5,132,588 (GRCm39) |
E206G |
probably damaging |
Het |
Tmem156 |
C |
T |
5: 65,231,204 (GRCm39) |
C222Y |
probably damaging |
Het |
Tnfrsf11b |
C |
T |
15: 54,117,598 (GRCm39) |
W219* |
probably null |
Het |
Ttc36 |
T |
C |
9: 44,710,898 (GRCm39) |
E144G |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,597,801 (GRCm39) |
R19704H |
probably damaging |
Het |
Wdr17 |
A |
C |
8: 55,091,403 (GRCm39) |
I1137S |
possibly damaging |
Het |
Xxylt1 |
A |
G |
16: 30,826,637 (GRCm39) |
L226P |
probably damaging |
Het |
Zbtb8b |
G |
A |
4: 129,322,238 (GRCm39) |
R408W |
probably damaging |
Het |
Zfp268 |
A |
G |
4: 145,349,138 (GRCm39) |
T192A |
probably benign |
Het |
Zfp873 |
T |
A |
10: 81,896,193 (GRCm39) |
V308E |
probably benign |
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 |
R4504:Pcdhga8
|
UTSW |
18 |
37,949,816 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
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'- TCAGCAGCAATGTGTCCCTG -3'
(R):5'- CAAGTCAGCCAACACTTCAGGG -3'
Sequencing Primer
(F):5'- CAGCAATGTGTCCCTGAGCTTG -3'
(R):5'- CCAACACTTCAGGGATGCTGTTAG -3'
|
Posted On |
2020-10-20 |