Incidental Mutation 'R5765:Pcdhga1'
| ID |
446251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga1
|
| Ensembl Gene |
ENSMUSG00000103144 |
| Gene Name |
protocadherin gamma subfamily A, 1 |
| Synonyms |
|
| MMRRC Submission |
043366-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5765 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37794846-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37796714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 573
(T573A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142062
(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 benign
Transcript: ENSMUST00000194190
AA Change: T573A
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000142062
Gene: ENSMUSG00000103144
AA Change: T573A
| 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 benign
Transcript: ENSMUST00000194888
AA Change: T573A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000141367
Gene: ENSMUSG00000103144
AA Change: T573A
| 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 |
0.1586 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
94% (51/54) |
| 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 |
|---|
| 1700086D15Rik |
A |
T |
11: 65,044,066 (GRCm39) |
|
probably benign |
Het |
| Abcf2 |
T |
C |
5: 24,778,421 (GRCm39) |
R246G |
probably damaging |
Het |
| Adamts19 |
G |
T |
18: 59,185,654 (GRCm39) |
C1176F |
probably damaging |
Het |
| Adh7 |
G |
A |
3: 137,932,090 (GRCm39) |
V235I |
probably benign |
Het |
| Aoc1l1 |
C |
T |
6: 48,955,471 (GRCm39) |
P694S |
probably damaging |
Het |
| Caprin2 |
G |
C |
6: 148,744,666 (GRCm39) |
P701A |
probably damaging |
Het |
| Casp7 |
T |
C |
19: 56,422,315 (GRCm39) |
V110A |
possibly damaging |
Het |
| Cd1d2 |
A |
T |
3: 86,894,549 (GRCm39) |
M106L |
probably benign |
Het |
| Cntnap2 |
C |
T |
6: 46,506,749 (GRCm39) |
|
probably benign |
Het |
| Cpm |
A |
G |
10: 117,507,638 (GRCm39) |
I252V |
probably benign |
Het |
| Dnaaf2 |
A |
C |
12: 69,239,627 (GRCm39) |
I631M |
probably damaging |
Het |
| Fads2b |
T |
G |
2: 85,314,538 (GRCm39) |
|
probably null |
Het |
| Fam117b |
A |
G |
1: 60,009,631 (GRCm39) |
|
probably null |
Het |
| Fbxw22 |
T |
C |
9: 109,214,064 (GRCm39) |
M251V |
probably benign |
Het |
| Fignl1 |
T |
C |
11: 11,752,011 (GRCm39) |
|
probably null |
Het |
| Foxp1 |
G |
A |
6: 98,992,423 (GRCm39) |
L156F |
probably damaging |
Het |
| Gdap1 |
A |
T |
1: 17,231,650 (GRCm39) |
M332L |
probably benign |
Het |
| H2-M3 |
T |
C |
17: 37,583,334 (GRCm39) |
F265S |
probably damaging |
Het |
| Il1rl1 |
C |
T |
1: 40,501,103 (GRCm39) |
A493V |
probably benign |
Het |
| Iqce |
A |
G |
5: 140,651,895 (GRCm39) |
S359P |
probably damaging |
Het |
| Kif2b |
C |
T |
11: 91,468,068 (GRCm39) |
E72K |
probably benign |
Het |
| Luzp1 |
T |
C |
4: 136,268,340 (GRCm39) |
S188P |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,866,707 (GRCm39) |
L587Q |
probably damaging |
Het |
| Mocs2 |
A |
G |
13: 114,962,692 (GRCm39) |
|
probably null |
Het |
| Mtnr1b |
T |
C |
9: 15,774,459 (GRCm39) |
Y200C |
probably damaging |
Het |
| Nalcn |
C |
T |
14: 123,702,138 (GRCm39) |
V458I |
possibly damaging |
Het |
| Nbea |
C |
T |
3: 55,912,719 (GRCm39) |
V1023I |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,331,006 (GRCm39) |
V2205D |
probably damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,434,226 (GRCm39) |
D262G |
probably damaging |
Het |
| Nsfl1c |
T |
C |
2: 151,346,085 (GRCm39) |
Y169H |
probably damaging |
Het |
| Pcdhac1 |
A |
T |
18: 37,223,372 (GRCm39) |
R62* |
probably null |
Het |
| Plin4 |
C |
T |
17: 56,409,470 (GRCm39) |
C1276Y |
possibly damaging |
Het |
| Ppp6r1 |
C |
A |
7: 4,645,207 (GRCm39) |
R220L |
possibly damaging |
Het |
| Ptprz1 |
T |
G |
6: 23,000,235 (GRCm39) |
V775G |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc17a6 |
A |
G |
7: 51,275,249 (GRCm39) |
T103A |
possibly damaging |
Het |
| Spock1 |
A |
T |
13: 57,577,217 (GRCm39) |
L404Q |
probably benign |
Het |
| Stradb |
C |
A |
1: 59,031,903 (GRCm39) |
H272N |
probably benign |
Het |
| Strn3 |
A |
G |
12: 51,680,410 (GRCm39) |
S397P |
probably benign |
Het |
| Synpo2l |
C |
T |
14: 20,716,198 (GRCm39) |
R126H |
possibly damaging |
Het |
| Tas2r104 |
A |
G |
6: 131,662,236 (GRCm39) |
Y158H |
probably benign |
Het |
| Tiparp |
T |
A |
3: 65,438,771 (GRCm39) |
I29N |
possibly damaging |
Het |
| Tnpo1 |
G |
A |
13: 98,996,349 (GRCm39) |
T484M |
probably benign |
Het |
| Tsc22d4 |
A |
G |
5: 137,756,805 (GRCm39) |
I78V |
probably benign |
Het |
| Ugt2b1 |
T |
C |
5: 87,067,265 (GRCm39) |
Y386C |
probably benign |
Het |
| Ugt2b38 |
A |
G |
5: 87,571,954 (GRCm39) |
V26A |
probably damaging |
Het |
| Vmn2r116 |
G |
A |
17: 23,620,378 (GRCm39) |
C704Y |
probably damaging |
Het |
| Vmn2r97 |
T |
A |
17: 19,167,442 (GRCm39) |
Y565* |
probably null |
Het |
| Zfand2b |
T |
A |
1: 75,147,171 (GRCm39) |
|
probably null |
Het |
| Zzef1 |
C |
T |
11: 72,712,763 (GRCm39) |
Q228* |
probably null |
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 |
|
R6176:Pcdhga1
|
UTSW |
18 |
37,797,282 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6380:Pcdhga1
|
UTSW |
18 |
37,796,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TTGCAATCCTTTGACTATGAGC -3'
(R):5'- ACTGCTATGGTAAATGTGACTGTG -3'
Sequencing Primer
(F):5'- CAGTTTCGAGATTTGCAGCTAAGAG -3'
(R):5'- AGCATCTCTCTCCAGCAGG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation