Incidental Mutation 'R5602:Pcdhgb4'
ID |
439109 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhgb4
|
Ensembl Gene |
ENSMUSG00000103585 |
Gene Name |
protocadherin gamma subfamily B, 4 |
Synonyms |
|
MMRRC Submission |
043154-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R5602 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37720369-37841870 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37721644 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 364
(I364T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142227
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192511]
[ENSMUST00000192931]
[ENSMUST00000193414]
[ENSMUST00000193476]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000195363]
[ENSMUST00000195112]
[ENSMUST00000194544]
[ENSMUST00000195823]
[ENSMUST00000194418]
|
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 |
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: 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 |
noncoding transcript
Transcript: ENSMUST00000195069
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000195363
AA Change: I364T
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000142227 Gene: ENSMUSG00000103585 AA Change: I364T
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: 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: 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: 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: 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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700057G04Rik |
G |
A |
9: 92,352,668 (GRCm38) |
C152Y |
possibly damaging |
Het |
4921509C19Rik |
G |
A |
2: 151,473,539 (GRCm38) |
S73F |
possibly damaging |
Het |
4932414N04Rik |
A |
T |
2: 68,748,368 (GRCm38) |
*753L |
probably null |
Het |
Acyp2 |
C |
T |
11: 30,506,354 (GRCm38) |
E98K |
possibly damaging |
Het |
Adam19 |
T |
C |
11: 46,136,315 (GRCm38) |
S592P |
probably benign |
Het |
Adamtsl3 |
A |
G |
7: 82,557,239 (GRCm38) |
K843R |
possibly damaging |
Het |
Ap2a2 |
A |
T |
7: 141,604,942 (GRCm38) |
T213S |
probably benign |
Het |
Asb5 |
A |
G |
8: 54,585,939 (GRCm38) |
E280G |
probably benign |
Het |
Becn1 |
T |
C |
11: 101,288,952 (GRCm38) |
D403G |
probably damaging |
Het |
Ccr7 |
G |
T |
11: 99,145,489 (GRCm38) |
N202K |
probably benign |
Het |
Cd36 |
T |
C |
5: 17,814,792 (GRCm38) |
T104A |
possibly damaging |
Het |
Cnot4 |
C |
T |
6: 35,051,529 (GRCm38) |
W384* |
probably null |
Het |
Col15a1 |
G |
A |
4: 47,312,087 (GRCm38) |
V1301M |
probably damaging |
Het |
Dock2 |
C |
A |
11: 34,254,391 (GRCm38) |
A1384S |
probably benign |
Het |
Ehbp1l1 |
T |
C |
19: 5,708,670 (GRCm38) |
E1648G |
possibly damaging |
Het |
Fbn1 |
G |
T |
2: 125,321,741 (GRCm38) |
A2065E |
possibly damaging |
Het |
Fras1 |
A |
G |
5: 96,737,021 (GRCm38) |
Y2586C |
probably damaging |
Het |
Galm |
T |
A |
17: 80,150,139 (GRCm38) |
Y28* |
probably null |
Het |
Ggt7 |
A |
G |
2: 155,490,999 (GRCm38) |
V648A |
possibly damaging |
Het |
Gm17067 |
T |
A |
7: 42,708,415 (GRCm38) |
D221V |
probably damaging |
Het |
Gpr3 |
T |
C |
4: 133,210,494 (GRCm38) |
N289S |
probably damaging |
Het |
Ighv11-2 |
A |
G |
12: 114,048,657 (GRCm38) |
|
probably benign |
Het |
Ighv11-2 |
G |
A |
12: 114,048,479 (GRCm38) |
L39F |
probably damaging |
Het |
Ipo9 |
G |
A |
1: 135,402,245 (GRCm38) |
L486F |
probably damaging |
Het |
Jak2 |
T |
A |
19: 29,298,339 (GRCm38) |
N726K |
probably benign |
Het |
Map4 |
T |
C |
9: 110,052,700 (GRCm38) |
S211P |
possibly damaging |
Het |
Mlh1 |
A |
T |
9: 111,252,878 (GRCm38) |
L259Q |
probably damaging |
Het |
Naa25 |
A |
G |
5: 121,420,495 (GRCm38) |
E300G |
probably benign |
Het |
Olfr954 |
A |
T |
9: 39,462,030 (GRCm38) |
M200L |
probably benign |
Het |
Olfr969 |
T |
A |
9: 39,796,194 (GRCm38) |
V273E |
possibly damaging |
Het |
Parva |
G |
A |
7: 112,567,765 (GRCm38) |
V182I |
probably benign |
Het |
Pdik1l |
A |
G |
4: 134,284,269 (GRCm38) |
S164P |
probably damaging |
Het |
Pfas |
A |
T |
11: 68,991,045 (GRCm38) |
I938N |
probably benign |
Het |
Prdm4 |
TCTCCTCCT |
TCTCCT |
10: 85,893,123 (GRCm38) |
|
probably null |
Het |
Prob1 |
C |
T |
18: 35,654,026 (GRCm38) |
V392M |
possibly damaging |
Het |
Rasgrf1 |
T |
C |
9: 89,911,571 (GRCm38) |
S134P |
possibly damaging |
Het |
Rorb |
T |
A |
19: 18,977,937 (GRCm38) |
Y20F |
probably damaging |
Het |
Rsph9 |
G |
T |
17: 46,134,983 (GRCm38) |
D220E |
probably damaging |
Het |
Safb2 |
C |
A |
17: 56,575,630 (GRCm38) |
K334N |
possibly damaging |
Het |
Sall3 |
T |
C |
18: 80,972,812 (GRCm38) |
T634A |
probably benign |
Het |
Scaf1 |
A |
G |
7: 45,007,583 (GRCm38) |
|
probably benign |
Het |
Slco1a5 |
T |
A |
6: 142,275,529 (GRCm38) |
|
probably benign |
Het |
Spata21 |
C |
T |
4: 141,096,899 (GRCm38) |
R158C |
probably benign |
Het |
Srrm2 |
G |
A |
17: 23,819,337 (GRCm38) |
|
probably benign |
Het |
Stk38l |
C |
A |
6: 146,758,500 (GRCm38) |
T10N |
probably benign |
Het |
Supv3l1 |
G |
A |
10: 62,430,592 (GRCm38) |
P602S |
possibly damaging |
Het |
Timm44 |
C |
T |
8: 4,266,769 (GRCm38) |
|
probably null |
Het |
Tll2 |
T |
A |
19: 41,104,981 (GRCm38) |
R465S |
possibly damaging |
Het |
Tmem104 |
G |
A |
11: 115,205,124 (GRCm38) |
A164T |
probably damaging |
Het |
Tmem151b |
A |
G |
17: 45,545,600 (GRCm38) |
S305P |
probably damaging |
Het |
Utrn |
T |
C |
10: 12,750,095 (GRCm38) |
D114G |
probably damaging |
Het |
Vmn2r109 |
A |
T |
17: 20,540,671 (GRCm38) |
M808K |
possibly damaging |
Het |
Washc2 |
T |
A |
6: 116,248,095 (GRCm38) |
D801E |
possibly damaging |
Het |
Xkr4 |
T |
C |
1: 3,216,528 (GRCm38) |
I480V |
probably benign |
Het |
Zfp507 |
G |
T |
7: 35,776,238 (GRCm38) |
S58* |
probably null |
Het |
Zfp768 |
T |
A |
7: 127,344,632 (GRCm38) |
D108V |
possibly damaging |
Het |
|
Other mutations in Pcdhgb4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R6236:Pcdhgb4
|
UTSW |
18 |
37,721,292 (GRCm38) |
missense |
probably damaging |
1.00 |
R6326:Pcdhgb4
|
UTSW |
18 |
37,722,456 (GRCm38) |
missense |
probably benign |
0.40 |
R6425:Pcdhgb4
|
UTSW |
18 |
37,721,587 (GRCm38) |
missense |
possibly damaging |
0.69 |
R6619:Pcdhgb4
|
UTSW |
18 |
37,721,684 (GRCm38) |
missense |
probably damaging |
1.00 |
R6749:Pcdhgb4
|
UTSW |
18 |
37,721,229 (GRCm38) |
missense |
possibly damaging |
0.52 |
R6752:Pcdhgb4
|
UTSW |
18 |
37,720,651 (GRCm38) |
missense |
probably damaging |
0.99 |
R7027:Pcdhgb4
|
UTSW |
18 |
37,721,362 (GRCm38) |
missense |
probably damaging |
1.00 |
R7145:Pcdhgb4
|
UTSW |
18 |
37,721,790 (GRCm38) |
missense |
probably benign |
0.00 |
R7158:Pcdhgb4
|
UTSW |
18 |
37,720,885 (GRCm38) |
missense |
probably damaging |
1.00 |
R7389:Pcdhgb4
|
UTSW |
18 |
37,722,363 (GRCm38) |
missense |
probably damaging |
1.00 |
R7524:Pcdhgb4
|
UTSW |
18 |
37,721,608 (GRCm38) |
missense |
probably benign |
0.02 |
R7557:Pcdhgb4
|
UTSW |
18 |
37,722,794 (GRCm38) |
nonsense |
probably null |
|
R7943:Pcdhgb4
|
UTSW |
18 |
37,722,010 (GRCm38) |
missense |
probably benign |
0.01 |
R8142:Pcdhgb4
|
UTSW |
18 |
37,721,113 (GRCm38) |
missense |
probably damaging |
0.98 |
R8717:Pcdhgb4
|
UTSW |
18 |
37,720,794 (GRCm38) |
missense |
probably benign |
0.06 |
R8779:Pcdhgb4
|
UTSW |
18 |
37,721,782 (GRCm38) |
missense |
probably damaging |
1.00 |
R8918:Pcdhgb4
|
UTSW |
18 |
37,722,595 (GRCm38) |
missense |
probably damaging |
0.99 |
R9153:Pcdhgb4
|
UTSW |
18 |
37,721,078 (GRCm38) |
missense |
possibly damaging |
0.94 |
R9296:Pcdhgb4
|
UTSW |
18 |
37,720,724 (GRCm38) |
missense |
probably benign |
0.03 |
R9491:Pcdhgb4
|
UTSW |
18 |
37,721,842 (GRCm38) |
missense |
probably damaging |
1.00 |
R9526:Pcdhgb4
|
UTSW |
18 |
37,722,829 (GRCm38) |
missense |
probably benign |
0.19 |
RF015:Pcdhgb4
|
UTSW |
18 |
37,721,802 (GRCm38) |
missense |
probably damaging |
1.00 |
Z1177:Pcdhgb4
|
UTSW |
18 |
37,721,341 (GRCm38) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCGGAGAAATTACAACTCTGCATAC -3'
(R):5'- GGCGTTATCGTTCACATCGC -3'
Sequencing Primer
(F):5'- ACAACTCTGCATACATTAGATTTCG -3'
(R):5'- TCGCCTATATGCAAGGTGAC -3'
|
Posted On |
2016-10-26 |