Incidental Mutation 'R6380:Pcdhga1'
| ID |
515290 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga1
|
| Ensembl Gene |
ENSMUSG00000103144 |
| Gene Name |
protocadherin gamma subfamily A, 1 |
| Synonyms |
|
| MMRRC Submission |
044529-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6380 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37794846-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37796022 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 342
(D342G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115661]
[ENSMUST00000194190]
[ENSMUST00000194544]
[ENSMUST00000194888]
|
| AlphaFold |
Q91XZ0 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000097608
|
| SMART Domains |
Protein: ENSMUSP00000095213
Gene: ENSMUSG00000073590
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000192137
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194190
AA Change: D342G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142062
Gene: ENSMUSG00000103144
AA Change: D342G
| 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: ENSMUST00000194328
|
| 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 damaging
Transcript: ENSMUST00000194888
AA Change: D342G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141367
Gene: ENSMUSG00000103144
AA Change: D342G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
31 |
131 |
1.6e-4 |
SMART |
|
CA
|
155 |
240 |
2.7e-18 |
SMART |
|
CA
|
264 |
345 |
3.3e-28 |
SMART |
|
CA
|
369 |
450 |
6.7e-27 |
SMART |
|
CA
|
474 |
560 |
2e-24 |
SMART |
|
CA
|
591 |
669 |
2.2e-15 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9014 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.5%
|
| Validation Efficiency |
100% (51/51) |
| 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. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null/reporter allele are viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
G |
A |
6: 91,900,118 (GRCm39) |
G424D |
probably damaging |
Het |
| Aco1 |
T |
C |
4: 40,185,028 (GRCm39) |
V566A |
probably benign |
Het |
| Adat1 |
G |
T |
8: 112,704,704 (GRCm39) |
T414K |
probably benign |
Het |
| Alox12e |
A |
G |
11: 70,211,927 (GRCm39) |
V194A |
probably benign |
Het |
| Anpep |
A |
G |
7: 79,491,644 (GRCm39) |
V119A |
probably benign |
Het |
| Atat1 |
C |
A |
17: 36,219,849 (GRCm39) |
|
probably null |
Het |
| Atp10a |
G |
A |
7: 58,469,432 (GRCm39) |
W1094* |
probably null |
Het |
| Bcl11b |
T |
C |
12: 107,969,360 (GRCm39) |
R15G |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,087,456 (GRCm39) |
D4019G |
probably benign |
Het |
| Btnl1 |
A |
G |
17: 34,598,468 (GRCm39) |
E28G |
probably benign |
Het |
| Ccnd1 |
A |
G |
7: 144,493,306 (GRCm39) |
V42A |
probably benign |
Het |
| Cdyl2 |
T |
A |
8: 117,309,923 (GRCm39) |
K344N |
probably damaging |
Het |
| Cep68 |
A |
G |
11: 20,180,498 (GRCm39) |
M711T |
probably benign |
Het |
| Cyp2j7 |
A |
G |
4: 96,118,211 (GRCm39) |
|
probably null |
Het |
| Cyp3a25 |
A |
T |
5: 145,935,357 (GRCm39) |
D86E |
probably damaging |
Het |
| Dclk1 |
G |
T |
3: 55,154,615 (GRCm39) |
R15L |
probably damaging |
Het |
| Dpy19l1 |
T |
A |
9: 24,393,341 (GRCm39) |
K143* |
probably null |
Het |
| Duox2 |
A |
G |
2: 122,111,483 (GRCm39) |
V1405A |
probably benign |
Het |
| Filip1 |
T |
C |
9: 79,726,906 (GRCm39) |
E571G |
probably damaging |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Jph1 |
T |
C |
1: 17,162,071 (GRCm39) |
N197S |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,437,322 (GRCm39) |
L535S |
probably damaging |
Het |
| Lepr |
C |
A |
4: 101,622,151 (GRCm39) |
S361* |
probably null |
Het |
| Lfng |
T |
A |
5: 140,600,151 (GRCm39) |
|
probably null |
Het |
| Lpcat2 |
G |
A |
8: 93,613,209 (GRCm39) |
A250T |
probably benign |
Het |
| Mab21l4 |
G |
A |
1: 93,088,613 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
A |
T |
17: 12,490,954 (GRCm39) |
M159K |
possibly damaging |
Het |
| Notch3 |
A |
T |
17: 32,363,533 (GRCm39) |
C1177S |
probably damaging |
Het |
| Olfml2b |
C |
T |
1: 170,496,800 (GRCm39) |
P477L |
probably benign |
Het |
| Or51a5 |
A |
T |
7: 102,771,136 (GRCm39) |
F281Y |
probably benign |
Het |
| Or5k16 |
T |
A |
16: 58,736,627 (GRCm39) |
I126L |
probably damaging |
Het |
| Or6c33 |
A |
T |
10: 129,853,782 (GRCm39) |
H184L |
probably benign |
Het |
| Pald1 |
G |
T |
10: 61,186,714 (GRCm39) |
F146L |
possibly damaging |
Het |
| Plcb2 |
T |
C |
2: 118,545,949 (GRCm39) |
S579G |
probably damaging |
Het |
| Prdm16 |
A |
T |
4: 154,425,824 (GRCm39) |
S654T |
probably benign |
Het |
| Rab3gap2 |
C |
A |
1: 184,968,181 (GRCm39) |
L178I |
probably damaging |
Het |
| Rbfox1 |
C |
T |
16: 7,042,214 (GRCm39) |
Q23* |
probably null |
Het |
| Slc14a2 |
T |
G |
18: 78,190,190 (GRCm39) |
T920P |
probably benign |
Het |
| Slc17a6 |
G |
A |
7: 51,317,211 (GRCm39) |
V411M |
probably benign |
Het |
| Stard6 |
G |
A |
18: 70,609,459 (GRCm39) |
V33I |
probably benign |
Het |
| Syce1 |
A |
T |
7: 140,358,978 (GRCm39) |
H178Q |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 76,151,754 (GRCm39) |
F1872I |
probably damaging |
Het |
| Tor1aip1 |
T |
C |
1: 155,894,234 (GRCm39) |
E274G |
possibly damaging |
Het |
| Trpm1 |
A |
T |
7: 63,918,045 (GRCm39) |
T462S |
probably benign |
Het |
| Ugt3a1 |
C |
T |
15: 9,306,541 (GRCm39) |
A230V |
probably benign |
Het |
| Vmn1r178 |
A |
G |
7: 23,592,984 (GRCm39) |
T11A |
possibly damaging |
Het |
| Vmn2r69 |
A |
T |
7: 85,061,067 (GRCm39) |
N172K |
probably benign |
Het |
| Whrn |
G |
T |
4: 63,336,829 (GRCm39) |
P136T |
possibly damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,478,170 (GRCm39) |
N3570S |
probably damaging |
Het |
| Zfp689 |
A |
G |
7: 127,043,968 (GRCm39) |
S221P |
probably damaging |
Het |
|
| Other mutations in Pcdhga1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
BB009:Pcdhga1
|
UTSW |
18 |
37,796,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB019:Pcdhga1
|
UTSW |
18 |
37,796,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1074:Pcdhga1
|
UTSW |
18 |
37,958,140 (GRCm39) |
splice site |
probably benign |
|
|
R1869:Pcdhga1
|
UTSW |
18 |
37,973,143 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1871:Pcdhga1
|
UTSW |
18 |
37,973,143 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3723:Pcdhga1
|
UTSW |
18 |
37,796,045 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3732:Pcdhga1
|
UTSW |
18 |
37,797,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4243:Pcdhga1
|
UTSW |
18 |
37,796,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4245:Pcdhga1
|
UTSW |
18 |
37,796,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4424:Pcdhga1
|
UTSW |
18 |
37,795,632 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4898:Pcdhga1
|
UTSW |
18 |
37,795,407 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4941:Pcdhga1
|
UTSW |
18 |
37,795,659 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5021:Pcdhga1
|
UTSW |
18 |
37,796,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5765:Pcdhga1
|
UTSW |
18 |
37,796,714 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6176:Pcdhga1
|
UTSW |
18 |
37,797,282 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7062:Pcdhga1
|
UTSW |
18 |
37,958,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7146:Pcdhga1
|
UTSW |
18 |
37,795,164 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7266:Pcdhga1
|
UTSW |
18 |
37,973,028 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7525:Pcdhga1
|
UTSW |
18 |
37,795,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7553:Pcdhga1
|
UTSW |
18 |
37,882,735 (GRCm39) |
splice site |
probably null |
|
|
R7581:Pcdhga1
|
UTSW |
18 |
37,795,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7932:Pcdhga1
|
UTSW |
18 |
37,796,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8330:Pcdhga1
|
UTSW |
18 |
37,796,376 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8385:Pcdhga1
|
UTSW |
18 |
37,795,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8549:Pcdhga1
|
UTSW |
18 |
37,966,386 (GRCm39) |
makesense |
probably null |
|
|
R9147:Pcdhga1
|
UTSW |
18 |
37,796,433 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9148:Pcdhga1
|
UTSW |
18 |
37,796,433 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9192:Pcdhga1
|
UTSW |
18 |
37,973,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9336:Pcdhga1
|
UTSW |
18 |
37,795,251 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATGCAACTGACCCGGATG -3'
(R):5'- GTCGACTAGCTTTTCCAGTTTAAAGG -3'
Sequencing Primer
(F):5'- CTTTCACAAGGTAGACCACAGTGTG -3'
(R):5'- CCAGTTTAAAGGGTAGGTTGCCAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation