Incidental Mutation 'R8779:Pcdhgb4'
ID |
670188 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhgb4
|
Ensembl Gene |
ENSMUSG00000103585 |
Gene Name |
protocadherin gamma subfamily B, 4 |
Synonyms |
|
MMRRC Submission |
068721-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R8779 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37853429-37974923 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 37854835 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 410
(R410L)
|
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: R410L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142227 Gene: ENSMUSG00000103585 AA Change: R410L
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: 99.3%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adap1 |
C |
A |
5: 139,259,173 (GRCm39) |
C338F |
probably damaging |
Het |
Ahsa1 |
A |
G |
12: 87,319,973 (GRCm39) |
N256S |
probably benign |
Het |
Ambra1 |
A |
G |
2: 91,747,719 (GRCm39) |
I1152V |
probably benign |
Het |
Ank2 |
A |
T |
3: 126,758,751 (GRCm39) |
N149K |
probably damaging |
Het |
Arid1b |
G |
A |
17: 5,391,809 (GRCm39) |
D1727N |
probably benign |
Het |
Cntn5 |
A |
T |
9: 10,171,920 (GRCm39) |
F88Y |
probably benign |
Het |
Cpox |
G |
C |
16: 58,491,229 (GRCm39) |
E147Q |
probably damaging |
Het |
Dip2c |
T |
C |
13: 9,660,845 (GRCm39) |
F902S |
probably damaging |
Het |
Eif3c |
T |
C |
7: 126,162,900 (GRCm39) |
K128E |
possibly damaging |
Het |
Fat4 |
A |
T |
3: 39,033,898 (GRCm39) |
I2517F |
probably damaging |
Het |
Galnt7 |
T |
C |
8: 58,037,245 (GRCm39) |
N48S |
probably benign |
Het |
Gcfc2 |
C |
T |
6: 81,925,298 (GRCm39) |
T571I |
probably benign |
Het |
Gem |
T |
C |
4: 11,711,166 (GRCm39) |
V119A |
possibly damaging |
Het |
Gm3248 |
A |
T |
14: 5,943,869 (GRCm38) |
N118K |
probably benign |
Het |
Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
Igkv14-130 |
T |
A |
6: 67,768,311 (GRCm39) |
W57R |
probably damaging |
Het |
Irag2 |
A |
G |
6: 145,083,925 (GRCm39) |
E30G |
probably benign |
Het |
Itch |
T |
A |
2: 155,014,440 (GRCm39) |
D92E |
probably benign |
Het |
Jakmip1 |
G |
C |
5: 37,386,672 (GRCm39) |
E1428Q |
unknown |
Het |
Kazn |
T |
C |
4: 141,881,856 (GRCm39) |
E128G |
|
Het |
Myo3a |
C |
A |
2: 22,250,404 (GRCm39) |
Y90* |
probably null |
Het |
Npas2 |
A |
C |
1: 39,377,267 (GRCm39) |
D543A |
probably damaging |
Het |
Or5ae1 |
A |
G |
7: 84,565,397 (GRCm39) |
T137A |
possibly damaging |
Het |
Or5v1 |
A |
G |
17: 37,809,718 (GRCm39) |
M59V |
probably damaging |
Het |
Or8g52 |
A |
G |
9: 39,630,636 (GRCm39) |
T38A |
probably damaging |
Het |
Rexo1 |
A |
G |
10: 80,384,292 (GRCm39) |
S656P |
probably benign |
Het |
Rmnd5b |
T |
C |
11: 51,518,459 (GRCm39) |
E139G |
possibly damaging |
Het |
Scn1a |
C |
T |
2: 66,181,257 (GRCm39) |
|
probably benign |
Het |
Sdk1 |
T |
C |
5: 141,948,457 (GRCm39) |
S601P |
probably benign |
Het |
Smpd3 |
A |
G |
8: 106,992,121 (GRCm39) |
V144A |
probably benign |
Het |
Snrk |
T |
C |
9: 121,995,688 (GRCm39) |
I489T |
probably damaging |
Het |
Thoc1 |
A |
G |
18: 9,993,366 (GRCm39) |
E575G |
probably benign |
Het |
Usp16 |
A |
G |
16: 87,276,297 (GRCm39) |
D545G |
probably benign |
Het |
Vmn2r81 |
G |
A |
10: 79,103,218 (GRCm39) |
C137Y |
possibly damaging |
Het |
Zfp536 |
T |
A |
7: 37,267,692 (GRCm39) |
K575* |
probably null |
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 |
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'- CATAATGGAGGATGCTGAGCC -3'
(R):5'- ATAGGTAACCTGGCCATTGGC -3'
Sequencing Primer
(F):5'- TGAGCCAGGGACATATATCGCTC -3'
(R):5'- TCTGAGGCGCTGACTTGAGC -3'
|
Posted On |
2021-04-30 |