Incidental Mutation 'R6425:Pcdhgb4'
ID |
518312 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhgb4
|
Ensembl Gene |
ENSMUSG00000103585 |
Gene Name |
protocadherin gamma subfamily B, 4 |
Synonyms |
|
MMRRC Submission |
044564-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R6425 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37853429-37974923 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37854640 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 345
(V345A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142227
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192511]
[ENSMUST00000192931]
[ENSMUST00000193414]
[ENSMUST00000193476]
[ENSMUST00000195363]
[ENSMUST00000195823]
[ENSMUST00000194544]
[ENSMUST00000195112]
[ENSMUST00000193869]
[ENSMUST00000194418]
[ENSMUST00000194190]
|
AlphaFold |
Q91XX6 |
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: 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: 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: ENSMUST00000193476
|
SMART Domains |
Protein: ENSMUSP00000142126 Gene: ENSMUSG00000103472
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
CA
|
47 |
133 |
7.6e-5 |
SMART |
CA
|
157 |
242 |
1.6e-21 |
SMART |
CA
|
266 |
347 |
1.6e-25 |
SMART |
CA
|
371 |
452 |
4.5e-25 |
SMART |
CA
|
476 |
562 |
6.6e-27 |
SMART |
CA
|
593 |
671 |
1.7e-17 |
SMART |
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195363
AA Change: V345A
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000142227 Gene: ENSMUSG00000103585 AA Change: V345A
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 |
|
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: ENSMUST00000193984
|
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 |
noncoding transcript
Transcript: ENSMUST00000193815
|
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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000195069
|
Meta Mutation Damage Score |
0.6446 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (41/41) |
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. This particular family member is expressed in fibroblasts and is thought to play a role in wound healing in response to injury. 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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
C |
11: 110,220,058 (GRCm39) |
T3A |
possibly damaging |
Het |
Ash1l |
A |
G |
3: 88,891,087 (GRCm39) |
T989A |
probably damaging |
Het |
Atp6v0a2 |
T |
A |
5: 124,790,194 (GRCm39) |
L459Q |
probably damaging |
Het |
Atp6v0a4 |
A |
T |
6: 38,027,446 (GRCm39) |
V788D |
possibly damaging |
Het |
Auh |
G |
A |
13: 52,995,080 (GRCm39) |
R162C |
probably damaging |
Het |
Begain |
C |
A |
12: 108,999,320 (GRCm39) |
G689C |
probably damaging |
Het |
Brcc3dc |
A |
C |
10: 108,535,757 (GRCm39) |
M66R |
possibly damaging |
Het |
Cd300lg |
T |
C |
11: 101,937,749 (GRCm39) |
F193S |
probably benign |
Het |
Cenpf |
T |
G |
1: 189,392,095 (GRCm39) |
N579T |
probably benign |
Het |
Cfap65 |
T |
C |
1: 74,966,868 (GRCm39) |
H273R |
probably benign |
Het |
Col6a6 |
T |
C |
9: 105,576,064 (GRCm39) |
T2099A |
probably benign |
Het |
Dock1 |
A |
G |
7: 134,765,110 (GRCm39) |
K1701E |
possibly damaging |
Het |
Dtl |
T |
C |
1: 191,278,735 (GRCm39) |
I376V |
probably benign |
Het |
F830045P16Rik |
C |
A |
2: 129,302,500 (GRCm39) |
C364F |
probably damaging |
Het |
Fancl |
C |
T |
11: 26,349,680 (GRCm39) |
L63F |
probably damaging |
Het |
Gli2 |
A |
T |
1: 118,763,624 (GRCm39) |
L1509* |
probably null |
Het |
Glyr1 |
A |
T |
16: 4,854,350 (GRCm39) |
|
probably null |
Het |
Igkv6-32 |
A |
T |
6: 70,051,284 (GRCm39) |
M24K |
probably damaging |
Het |
Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
Klhl18 |
T |
C |
9: 110,275,749 (GRCm39) |
E133G |
possibly damaging |
Het |
Lgals4 |
A |
T |
7: 28,533,885 (GRCm39) |
K20* |
probably null |
Het |
Myo9b |
A |
G |
8: 71,786,272 (GRCm39) |
D646G |
probably damaging |
Het |
Pcdhb3 |
T |
C |
18: 37,435,528 (GRCm39) |
L498P |
possibly damaging |
Het |
Pdc |
T |
C |
1: 150,209,123 (GRCm39) |
V202A |
probably benign |
Het |
Pfas |
T |
C |
11: 68,881,897 (GRCm39) |
I929M |
probably benign |
Het |
Plxna1 |
G |
T |
6: 89,311,647 (GRCm39) |
R953S |
probably benign |
Het |
Pnpla5 |
T |
C |
15: 84,006,836 (GRCm39) |
|
probably null |
Het |
Psmd1 |
T |
C |
1: 85,998,350 (GRCm39) |
|
probably null |
Het |
Rbm47 |
C |
T |
5: 66,180,159 (GRCm39) |
G452S |
probably damaging |
Het |
Reln |
G |
A |
5: 22,116,018 (GRCm39) |
Q2997* |
probably null |
Het |
Rrn3 |
A |
G |
16: 13,629,465 (GRCm39) |
T594A |
probably benign |
Het |
Slc25a35 |
G |
A |
11: 68,859,591 (GRCm39) |
A35T |
possibly damaging |
Het |
Slc33a1 |
A |
G |
3: 63,871,484 (GRCm39) |
V43A |
probably benign |
Het |
Sorcs3 |
T |
C |
19: 48,752,746 (GRCm39) |
|
probably null |
Het |
Tbk1 |
A |
G |
10: 121,399,867 (GRCm39) |
M319T |
probably benign |
Het |
Tmem132c |
T |
A |
5: 127,630,329 (GRCm39) |
M622K |
possibly damaging |
Het |
Tshz1 |
A |
T |
18: 84,033,688 (GRCm39) |
F240Y |
probably damaging |
Het |
Ube2b |
A |
T |
11: 51,882,244 (GRCm39) |
L73* |
probably null |
Het |
Vipas39 |
A |
G |
12: 87,288,063 (GRCm39) |
V449A |
probably damaging |
Het |
Zfp870 |
T |
C |
17: 33,102,045 (GRCm39) |
N429S |
possibly damaging |
Het |
|
Other mutations in Pcdhgb4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R5602:Pcdhgb4
|
UTSW |
18 |
37,854,697 (GRCm39) |
missense |
probably damaging |
0.97 |
R6236:Pcdhgb4
|
UTSW |
18 |
37,854,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R6326:Pcdhgb4
|
UTSW |
18 |
37,855,509 (GRCm39) |
missense |
probably benign |
0.40 |
R6619:Pcdhgb4
|
UTSW |
18 |
37,854,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R6749:Pcdhgb4
|
UTSW |
18 |
37,854,282 (GRCm39) |
missense |
possibly damaging |
0.52 |
R6752:Pcdhgb4
|
UTSW |
18 |
37,853,704 (GRCm39) |
missense |
probably damaging |
0.99 |
R7027:Pcdhgb4
|
UTSW |
18 |
37,854,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R7145:Pcdhgb4
|
UTSW |
18 |
37,854,843 (GRCm39) |
missense |
probably benign |
0.00 |
R7158:Pcdhgb4
|
UTSW |
18 |
37,853,938 (GRCm39) |
missense |
probably damaging |
1.00 |
R7389:Pcdhgb4
|
UTSW |
18 |
37,855,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R7524:Pcdhgb4
|
UTSW |
18 |
37,854,661 (GRCm39) |
missense |
probably benign |
0.02 |
R7557:Pcdhgb4
|
UTSW |
18 |
37,855,847 (GRCm39) |
nonsense |
probably null |
|
R7943:Pcdhgb4
|
UTSW |
18 |
37,855,063 (GRCm39) |
missense |
probably benign |
0.01 |
R8142:Pcdhgb4
|
UTSW |
18 |
37,854,166 (GRCm39) |
missense |
probably damaging |
0.98 |
R8717:Pcdhgb4
|
UTSW |
18 |
37,853,847 (GRCm39) |
missense |
probably benign |
0.06 |
R8779:Pcdhgb4
|
UTSW |
18 |
37,854,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R8918:Pcdhgb4
|
UTSW |
18 |
37,855,648 (GRCm39) |
missense |
probably damaging |
0.99 |
R9153:Pcdhgb4
|
UTSW |
18 |
37,854,131 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9296:Pcdhgb4
|
UTSW |
18 |
37,853,777 (GRCm39) |
missense |
probably benign |
0.03 |
R9491:Pcdhgb4
|
UTSW |
18 |
37,854,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R9526:Pcdhgb4
|
UTSW |
18 |
37,855,882 (GRCm39) |
missense |
probably benign |
0.19 |
RF015:Pcdhgb4
|
UTSW |
18 |
37,854,855 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Pcdhgb4
|
UTSW |
18 |
37,854,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTTTCAGTGAAGCTGGCC -3'
(R):5'- CTGCTCACGATCTAGAACTCC -3'
Sequencing Primer
(F):5'- GCTGGCCAGGTTACCCAATTTAAC -3'
(R):5'- GATCTAGAACTCCATCCGTCACTAG -3'
|
Posted On |
2018-05-24 |