Incidental Mutation 'R8918:Pcdhgb4'
ID |
679081 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhgb4
|
Ensembl Gene |
ENSMUSG00000103585 |
Gene Name |
protocadherin gamma subfamily B, 4 |
Synonyms |
|
MMRRC Submission |
068705-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R8918 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37853429-37974923 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37855648 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 681
(D681G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142227
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192511]
[ENSMUST00000192931]
[ENSMUST00000193414]
[ENSMUST00000193476]
[ENSMUST00000195363]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000194544]
[ENSMUST00000195112]
[ENSMUST00000195823]
|
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 |
probably damaging
Transcript: ENSMUST00000195363
AA Change: D681G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000142227 Gene: ENSMUSG00000103585 AA Change: D681G
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: 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: 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
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. 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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
T |
C |
5: 114,333,315 (GRCm39) |
F480L |
probably damaging |
Het |
Actr6 |
A |
T |
10: 89,553,057 (GRCm39) |
I267N |
probably damaging |
Het |
Ank2 |
A |
G |
3: 126,737,380 (GRCm39) |
S2835P |
unknown |
Het |
Arfgef3 |
C |
T |
10: 18,511,453 (GRCm39) |
R753Q |
probably benign |
Het |
Arid3a |
A |
G |
10: 79,784,765 (GRCm39) |
T285A |
probably benign |
Het |
Atad5 |
T |
C |
11: 79,986,473 (GRCm39) |
V520A |
probably benign |
Het |
Atoh1 |
T |
G |
6: 64,707,241 (GRCm39) |
L312R |
probably damaging |
Het |
Brd10 |
T |
C |
19: 29,696,841 (GRCm39) |
K884R |
possibly damaging |
Het |
Cpt1a |
T |
C |
19: 3,408,258 (GRCm39) |
V179A |
|
Het |
Crocc2 |
C |
A |
1: 93,129,144 (GRCm39) |
N816K |
possibly damaging |
Het |
Csf2ra |
A |
T |
19: 61,214,721 (GRCm39) |
V201D |
probably damaging |
Het |
Dok1 |
C |
T |
6: 83,008,324 (GRCm39) |
V453I |
probably benign |
Het |
Elp4 |
A |
G |
2: 105,662,600 (GRCm39) |
S175P |
probably benign |
Het |
Erh |
G |
T |
12: 80,684,282 (GRCm39) |
A65E |
probably benign |
Het |
Etl4 |
G |
A |
2: 20,748,733 (GRCm39) |
S357N |
probably benign |
Het |
Etl4 |
A |
G |
2: 20,811,246 (GRCm39) |
T1478A |
probably benign |
Het |
Gabra1 |
A |
G |
11: 42,026,320 (GRCm39) |
F324S |
probably damaging |
Het |
Gm11437 |
T |
C |
11: 84,043,530 (GRCm39) |
T254A |
probably benign |
Het |
Gria2 |
T |
C |
3: 80,599,706 (GRCm39) |
E726G |
probably damaging |
Het |
Gstm2 |
A |
T |
3: 107,892,382 (GRCm39) |
C115S |
possibly damaging |
Het |
Ighv1-12 |
T |
C |
12: 114,579,553 (GRCm39) |
T90A |
probably damaging |
Het |
Inf2 |
A |
G |
12: 112,572,703 (GRCm39) |
I690V |
unknown |
Het |
Kdm3b |
A |
G |
18: 34,970,650 (GRCm39) |
N1739S |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 40,615,893 (GRCm39) |
N3614K |
|
Het |
Mapk8ip3 |
A |
G |
17: 25,131,727 (GRCm39) |
L404P |
probably damaging |
Het |
Mcl1 |
T |
C |
3: 95,567,192 (GRCm39) |
F251S |
probably damaging |
Het |
Mdn1 |
T |
A |
4: 32,744,579 (GRCm39) |
L4038* |
probably null |
Het |
Mmp8 |
T |
C |
9: 7,561,485 (GRCm39) |
V163A |
probably benign |
Het |
Myo18b |
C |
T |
5: 113,022,873 (GRCm39) |
|
probably benign |
Het |
Ndst1 |
C |
T |
18: 60,825,083 (GRCm39) |
R745H |
probably benign |
Het |
Or4d2b |
A |
G |
11: 87,780,284 (GRCm39) |
V146A |
probably benign |
Het |
Or8c18 |
T |
C |
9: 38,203,385 (GRCm39) |
F48S |
probably benign |
Het |
Pard3 |
C |
T |
8: 128,098,011 (GRCm39) |
R351C |
probably benign |
Het |
Pde10a |
G |
A |
17: 9,160,063 (GRCm39) |
A163T |
possibly damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Pelp1 |
A |
G |
11: 70,296,505 (GRCm39) |
L123S |
probably damaging |
Het |
Plekhh2 |
A |
G |
17: 84,906,621 (GRCm39) |
D1152G |
possibly damaging |
Het |
Rag1 |
T |
C |
2: 101,472,098 (GRCm39) |
T1015A |
probably benign |
Het |
Rock2 |
C |
T |
12: 16,990,422 (GRCm39) |
Q115* |
probably null |
Het |
Rorb |
T |
A |
19: 18,915,356 (GRCm39) |
H434L |
probably damaging |
Het |
Safb2 |
A |
T |
17: 56,882,975 (GRCm39) |
C219* |
probably null |
Het |
Sema3a |
A |
G |
5: 13,573,099 (GRCm39) |
H209R |
probably damaging |
Het |
Serpinb9g |
T |
G |
13: 33,679,131 (GRCm39) |
S334A |
probably benign |
Het |
Slc5a9 |
T |
A |
4: 111,741,147 (GRCm39) |
M500L |
probably benign |
Het |
Snap91 |
A |
G |
9: 86,651,611 (GRCm39) |
S810P |
unknown |
Het |
Spink5 |
G |
T |
18: 44,100,087 (GRCm39) |
A35S |
probably damaging |
Het |
Stxbp5l |
G |
A |
16: 36,954,892 (GRCm39) |
T887I |
|
Het |
Tacc2 |
T |
C |
7: 130,227,823 (GRCm39) |
F1503L |
probably benign |
Het |
Tectb |
A |
G |
19: 55,180,000 (GRCm39) |
E272G |
probably damaging |
Het |
Trdn |
A |
T |
10: 33,015,117 (GRCm39) |
I24F |
probably benign |
Het |
Tshr |
G |
A |
12: 91,504,211 (GRCm39) |
S383N |
probably benign |
Het |
Tspan1 |
C |
A |
4: 116,020,970 (GRCm39) |
C149F |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,570,862 (GRCm39) |
L26677Q |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,270,017 (GRCm39) |
F1755I |
possibly damaging |
Het |
Vps13d |
T |
A |
4: 144,772,873 (GRCm39) |
I4047F |
|
Het |
Zfp1010 |
A |
C |
2: 176,958,551 (GRCm39) |
S29R |
probably benign |
Het |
Zfp369 |
T |
A |
13: 65,443,529 (GRCm39) |
L336* |
probably null |
Het |
Zfp518a |
A |
C |
19: 40,901,870 (GRCm39) |
K600Q |
possibly damaging |
Het |
Zfp984 |
T |
C |
4: 147,840,623 (GRCm39) |
H76R |
possibly damaging |
Het |
Zscan10 |
G |
A |
17: 23,826,116 (GRCm39) |
G138S |
probably benign |
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 |
R6425:Pcdhgb4
|
UTSW |
18 |
37,854,640 (GRCm39) |
missense |
possibly damaging |
0.69 |
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 |
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'- TCTTACCATGTGCTGCAGG -3'
(R):5'- AGTCCCCTCACTGTAGTTGG -3'
Sequencing Primer
(F):5'- AGTGACCCTGGGCTCTTCAG -3'
(R):5'- TAGAATCACAGCCAGGAG -3'
|
Posted On |
2021-08-02 |