Incidental Mutation 'R6752:Pcdhgb4'
| ID |
530861 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhgb4
|
| Ensembl Gene |
ENSMUSG00000103585 |
| Gene Name |
protocadherin gamma subfamily B, 4 |
| Synonyms |
|
| MMRRC Submission |
044869-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R6752 (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 A
at 37853704 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 33
(I33N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192511]
[ENSMUST00000192931]
[ENSMUST00000193414]
[ENSMUST00000193476]
[ENSMUST00000195363]
[ENSMUST00000194544]
[ENSMUST00000194190]
[ENSMUST00000193869]
[ENSMUST00000194418]
[ENSMUST00000195823]
[ENSMUST00000195112]
|
| AlphaFold |
Q91XX6 |
| 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 |
noncoding transcript
Transcript: ENSMUST00000193815
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195363
AA Change: I33N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142227
Gene: ENSMUSG00000103585
AA Change: I33N
| 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: 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: 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: 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: 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: 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: ENSMUST00000195069
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (55/56) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
C |
11: 84,086,309 (GRCm39) |
L45S |
probably benign |
Het |
| Agbl2 |
G |
A |
2: 90,633,418 (GRCm39) |
C518Y |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| Aox1 |
T |
C |
1: 58,086,398 (GRCm39) |
I101T |
probably benign |
Het |
| Arhgap23 |
T |
C |
11: 97,343,074 (GRCm39) |
F241S |
probably damaging |
Het |
| Asmt |
A |
G |
X: 169,110,096 (GRCm39) |
M202V |
probably benign |
Het |
| Atp6v0a2 |
A |
G |
5: 124,779,452 (GRCm39) |
E189G |
probably damaging |
Het |
| Birc2 |
G |
A |
9: 7,857,345 (GRCm39) |
A376V |
probably benign |
Het |
| Ccbe1 |
C |
T |
18: 66,209,378 (GRCm39) |
|
probably null |
Het |
| Chst2 |
C |
A |
9: 95,286,802 (GRCm39) |
E515* |
probably null |
Het |
| Col12a1 |
A |
T |
9: 79,540,706 (GRCm39) |
N2426K |
possibly damaging |
Het |
| Dmrt2 |
A |
G |
19: 25,655,706 (GRCm39) |
N435S |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,421,017 (GRCm39) |
K123E |
probably benign |
Het |
| Dock4 |
T |
A |
12: 40,870,616 (GRCm39) |
L1452Q |
probably damaging |
Het |
| Galnt7 |
G |
A |
8: 58,105,985 (GRCm39) |
R10C |
probably damaging |
Het |
| Gm16506 |
A |
G |
14: 43,964,876 (GRCm39) |
I22T |
unknown |
Het |
| H2-Q6 |
A |
G |
17: 35,647,103 (GRCm39) |
T292A |
probably damaging |
Het |
| Ifne |
A |
G |
4: 88,798,319 (GRCm39) |
M33T |
probably benign |
Het |
| Igf2r |
G |
A |
17: 12,933,831 (GRCm39) |
R808W |
probably damaging |
Het |
| Igfbp5 |
T |
C |
1: 72,903,068 (GRCm39) |
E169G |
probably damaging |
Het |
| Inppl1 |
G |
A |
7: 101,481,749 (GRCm39) |
R198* |
probably null |
Het |
| Irgm1 |
T |
C |
11: 48,757,290 (GRCm39) |
T174A |
probably damaging |
Het |
| Itih3 |
C |
T |
14: 30,645,446 (GRCm39) |
G21S |
possibly damaging |
Het |
| Klra4 |
G |
T |
6: 130,038,991 (GRCm39) |
Q134K |
probably benign |
Het |
| Mfsd1 |
T |
A |
3: 67,503,936 (GRCm39) |
Y309* |
probably null |
Het |
| Mrps10 |
A |
G |
17: 47,688,740 (GRCm39) |
N162S |
probably damaging |
Het |
| Mtmr14 |
T |
C |
6: 113,217,358 (GRCm39) |
F90S |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 49,003,290 (GRCm39) |
D1783G |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 70,119,856 (GRCm39) |
E972G |
probably damaging |
Het |
| Myt1 |
G |
T |
2: 181,442,875 (GRCm39) |
V455F |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,944,640 (GRCm39) |
S575T |
probably benign |
Het |
| Nbea |
T |
A |
3: 55,875,730 (GRCm39) |
T1647S |
probably benign |
Het |
| Ntn4 |
A |
G |
10: 93,570,037 (GRCm39) |
N466S |
probably benign |
Het |
| Or10ag52 |
A |
G |
2: 87,043,388 (GRCm39) |
M51V |
probably benign |
Het |
| Or5b114-ps1 |
T |
A |
19: 13,352,890 (GRCm39) |
L188H |
unknown |
Het |
| Or5h27 |
T |
A |
16: 59,006,694 (GRCm39) |
N51Y |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Pom121l2 |
T |
G |
13: 22,165,939 (GRCm39) |
F70C |
probably damaging |
Het |
| Psmb5 |
T |
C |
14: 54,854,212 (GRCm39) |
T89A |
probably benign |
Het |
| Rab11fip2 |
T |
C |
19: 59,895,475 (GRCm39) |
D471G |
probably damaging |
Het |
| Rnh1 |
A |
G |
7: 140,743,354 (GRCm39) |
V207A |
probably benign |
Het |
| Sh3tc2 |
C |
A |
18: 62,094,108 (GRCm39) |
T49N |
probably benign |
Het |
| Skint4 |
T |
C |
4: 111,977,060 (GRCm39) |
M158T |
possibly damaging |
Het |
| Skint7 |
T |
A |
4: 111,837,463 (GRCm39) |
H80Q |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,762,539 (GRCm39) |
|
probably benign |
Het |
| Sostdc1 |
T |
C |
12: 36,364,411 (GRCm39) |
V40A |
probably benign |
Het |
| Sptlc1 |
C |
A |
13: 53,489,394 (GRCm39) |
K437N |
possibly damaging |
Het |
| Stat2 |
T |
C |
10: 128,119,622 (GRCm39) |
F503L |
probably damaging |
Het |
| Syt16 |
A |
T |
12: 74,275,987 (GRCm39) |
|
probably null |
Het |
| Tspyl1 |
T |
C |
10: 34,158,583 (GRCm39) |
S103P |
probably benign |
Het |
| Ube4a |
A |
T |
9: 44,837,246 (GRCm39) |
S1053R |
probably damaging |
Het |
| Vipr1 |
A |
G |
9: 121,482,959 (GRCm39) |
N58S |
probably damaging |
Het |
| Zfp184 |
C |
A |
13: 22,143,578 (GRCm39) |
A428E |
probably damaging |
Het |
| Zfp292 |
A |
C |
4: 34,808,593 (GRCm39) |
F1484V |
possibly damaging |
Het |
| Zfp599 |
G |
A |
9: 22,160,840 (GRCm39) |
H442Y |
probably damaging |
Het |
| Zfp944 |
G |
A |
17: 22,558,500 (GRCm39) |
T249I |
probably benign |
Het |
| Zkscan14 |
T |
A |
5: 145,132,316 (GRCm39) |
H405L |
probably 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 |
|
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 |
|
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'- AAAGTTCGATTGGAGCCCGG -3'
(R):5'- AGCACACATCAGCTTCTTCC -3'
Sequencing Primer
(F):5'- TTCGATTGGAGCCCGGAATATCC -3'
(R):5'- GCATATCTGCTCCCTGTCCAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation