Incidental Mutation 'R7389:Pcdhgb4'
| ID |
573332 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhgb4
|
| Ensembl Gene |
ENSMUSG00000103585 |
| Gene Name |
protocadherin gamma subfamily B, 4 |
| Synonyms |
|
| MMRRC Submission |
045471-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R7389 (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 37855416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 604
(Y604H)
|
| 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: Y604H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142227
Gene: ENSMUSG00000103585
AA Change: Y604H
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (49/50) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa11 |
C |
A |
14: 25,873,312 (GRCm39) |
P182Q |
probably damaging |
Het |
| Asns |
C |
A |
6: 7,689,291 (GRCm39) |
L70F |
probably damaging |
Het |
| Cntrl |
A |
T |
2: 35,017,529 (GRCm39) |
K445N |
probably benign |
Het |
| Cyp2c50 |
G |
T |
19: 40,079,107 (GRCm39) |
R150L |
probably benign |
Het |
| Dqx1 |
G |
T |
6: 83,041,775 (GRCm39) |
S539I |
probably null |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Epha3 |
T |
C |
16: 63,593,347 (GRCm39) |
E247G |
probably damaging |
Het |
| Etl4 |
C |
T |
2: 20,789,904 (GRCm39) |
Q801* |
probably null |
Het |
| Fabp2 |
G |
T |
3: 122,689,014 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,819,140 (GRCm39) |
V4958I |
possibly damaging |
Het |
| Fstl3 |
G |
A |
10: 79,615,865 (GRCm39) |
C117Y |
probably damaging |
Het |
| Hdgfl2 |
T |
G |
17: 56,406,389 (GRCm39) |
|
probably null |
Het |
| Igfn1 |
T |
C |
1: 135,894,785 (GRCm39) |
D1927G |
probably benign |
Het |
| Ino80 |
A |
C |
2: 119,273,010 (GRCm39) |
S489A |
probably benign |
Het |
| Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
| Lrriq3 |
A |
G |
3: 154,893,741 (GRCm39) |
T481A |
probably benign |
Het |
| Map2k3 |
A |
T |
11: 60,822,862 (GRCm39) |
|
probably benign |
Het |
| Matr3 |
A |
G |
18: 35,717,638 (GRCm39) |
T617A |
probably benign |
Het |
| Mybpc2 |
T |
G |
7: 44,155,028 (GRCm39) |
T960P |
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,257,049 (GRCm39) |
N150S |
possibly damaging |
Het |
| Nup153 |
A |
T |
13: 46,854,463 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
G |
11: 58,927,226 (GRCm39) |
L5498P |
probably benign |
Het |
| Or5b21 |
G |
T |
19: 12,839,981 (GRCm39) |
V281L |
probably benign |
Het |
| Or5v1b |
A |
G |
17: 37,841,548 (GRCm39) |
R227G |
possibly damaging |
Het |
| Paqr8 |
C |
A |
1: 21,005,389 (GRCm39) |
P181Q |
probably damaging |
Het |
| Pja2 |
T |
A |
17: 64,604,722 (GRCm39) |
E487V |
probably damaging |
Het |
| Pnpla6 |
C |
T |
8: 3,593,981 (GRCm39) |
R1331* |
probably null |
Het |
| Ppl |
T |
A |
16: 4,924,577 (GRCm39) |
|
probably null |
Het |
| Rhbdl3 |
T |
A |
11: 80,237,665 (GRCm39) |
M299K |
possibly damaging |
Het |
| Scart1 |
A |
G |
7: 139,808,704 (GRCm39) |
K872E |
possibly damaging |
Het |
| Slc26a9 |
A |
G |
1: 131,696,986 (GRCm39) |
*791W |
probably null |
Het |
| Slc7a2 |
A |
G |
8: 41,365,552 (GRCm39) |
Y461C |
probably benign |
Het |
| Sptb |
G |
T |
12: 76,671,003 (GRCm39) |
Q447K |
probably damaging |
Het |
| Ssh1 |
A |
T |
5: 114,096,892 (GRCm39) |
I205N |
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,869,196 (GRCm39) |
V1511I |
probably benign |
Het |
| Tex19.1 |
T |
C |
11: 121,037,986 (GRCm39) |
W115R |
possibly damaging |
Het |
| Tinf2 |
G |
T |
14: 55,918,167 (GRCm39) |
|
probably null |
Het |
| Tmeff1 |
A |
G |
4: 48,617,097 (GRCm39) |
|
probably null |
Het |
| Tnip2 |
G |
T |
5: 34,671,145 (GRCm39) |
Q33K |
probably benign |
Het |
| Traf3 |
C |
A |
12: 111,204,187 (GRCm39) |
L59M |
probably damaging |
Het |
| Trav14d-3-dv8 |
T |
C |
14: 53,316,328 (GRCm39) |
Y63H |
possibly damaging |
Het |
| Trim11 |
C |
T |
11: 58,881,481 (GRCm39) |
S458L |
probably damaging |
Het |
| Tspan18 |
A |
T |
2: 93,040,272 (GRCm39) |
V161E |
probably benign |
Het |
| Usf3 |
T |
A |
16: 44,038,304 (GRCm39) |
V928E |
probably benign |
Het |
| Usp29 |
G |
A |
7: 6,966,457 (GRCm39) |
V767I |
possibly damaging |
Het |
| Usp34 |
T |
G |
11: 23,295,200 (GRCm39) |
F287L |
|
Het |
| Vmn1r213 |
T |
C |
13: 23,196,556 (GRCm39) |
C380R |
probably benign |
Het |
| Zfyve9 |
A |
G |
4: 108,550,515 (GRCm39) |
|
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 |
|
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'- ACACTCAGCGCCAATGTGAG -3'
(R):5'- AAAGGGTCATCGCTGAGGTC -3'
Sequencing Primer
(F):5'- AGCGCCAATGTGAGCATGC -3'
(R):5'- TTGCAGGCTGTCAGCGAAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation