Incidental Mutation 'IGL01077:Cacng5'
| ID |
278156 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cacng5
|
| Ensembl Gene |
ENSMUSG00000040373 |
| Gene Name |
calcium channel, voltage-dependent, gamma subunit 5 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL01077
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
107765431-107805881 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 107772531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 106
(V106I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102353
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039071]
[ENSMUST00000106742]
|
| AlphaFold |
Q8VHW4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039071
AA Change: V106I
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000047888
Gene: ENSMUSG00000040373
AA Change: V106I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMP22_Claudin
|
7 |
196 |
3.7e-25 |
PFAM |
|
Pfam:Claudin_2
|
10 |
198 |
4.6e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106742
AA Change: V106I
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000102353
Gene: ENSMUSG00000040373
AA Change: V106I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMP22_Claudin
|
7 |
196 |
3.8e-25 |
PFAM |
|
Pfam:Claudin_2
|
18 |
198 |
7e-22 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type I TARP and a calcium channel gamma subunit. This gene is a susceptibility locus for schizophrenia and bipolar disorder. [provided by RefSeq, Dec 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
A |
T |
1: 58,096,569 (GRCm39) |
|
probably benign |
Het |
| Arhgap4 |
A |
G |
X: 72,943,699 (GRCm39) |
|
probably benign |
Het |
| Ascc3 |
T |
G |
10: 50,525,413 (GRCm39) |
|
probably benign |
Het |
| Car10 |
T |
C |
11: 93,487,969 (GRCm39) |
I222T |
possibly damaging |
Het |
| Cep250 |
G |
A |
2: 155,804,054 (GRCm39) |
V55M |
probably damaging |
Het |
| Chst4 |
T |
A |
8: 110,756,597 (GRCm39) |
Y422F |
probably benign |
Het |
| Dnajc13 |
T |
C |
9: 104,108,220 (GRCm39) |
E185G |
probably benign |
Het |
| Dtx2 |
T |
A |
5: 136,058,057 (GRCm39) |
M454K |
possibly damaging |
Het |
| Flg2 |
T |
A |
3: 93,127,513 (GRCm39) |
S2142T |
unknown |
Het |
| Ganc |
C |
T |
2: 120,276,996 (GRCm39) |
T686M |
possibly damaging |
Het |
| Gm53 |
C |
T |
11: 96,142,594 (GRCm39) |
|
noncoding transcript |
Het |
| Gria3 |
T |
C |
X: 40,677,369 (GRCm39) |
V254A |
possibly damaging |
Het |
| H2-DMb2 |
G |
T |
17: 34,367,587 (GRCm39) |
A3S |
probably damaging |
Het |
| H2-DMb2 |
A |
G |
17: 34,366,694 (GRCm39) |
Y42C |
probably damaging |
Het |
| Mtrex |
A |
T |
13: 113,051,023 (GRCm39) |
I184K |
probably damaging |
Het |
| Myzap |
T |
C |
9: 71,454,042 (GRCm39) |
E343G |
probably damaging |
Het |
| Nap1l2 |
T |
C |
X: 102,228,922 (GRCm39) |
D332G |
probably benign |
Het |
| Npr1 |
T |
G |
3: 90,365,669 (GRCm39) |
D628A |
probably damaging |
Het |
| Raet1e |
T |
C |
10: 22,057,219 (GRCm39) |
L181S |
probably damaging |
Het |
| Rnf43 |
G |
T |
11: 87,622,718 (GRCm39) |
M606I |
probably benign |
Het |
| Serpinb6b |
G |
A |
13: 33,162,049 (GRCm39) |
D283N |
possibly damaging |
Het |
| Slit2 |
A |
G |
5: 48,374,785 (GRCm39) |
|
probably null |
Het |
| Supt5 |
C |
T |
7: 28,023,213 (GRCm39) |
W323* |
probably null |
Het |
| Svep1 |
T |
A |
4: 58,068,760 (GRCm39) |
I3009F |
possibly damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tll1 |
T |
C |
8: 64,523,266 (GRCm39) |
Y482C |
probably benign |
Het |
| Trappc8 |
G |
A |
18: 20,970,035 (GRCm39) |
T985I |
probably benign |
Het |
| Zfp945 |
T |
C |
17: 23,071,359 (GRCm39) |
K180R |
probably damaging |
Het |
|
| Other mutations in Cacng5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01075:Cacng5
|
APN |
11 |
107,772,531 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01080:Cacng5
|
APN |
11 |
107,772,531 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01080:Cacng5
|
APN |
11 |
107,768,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01082:Cacng5
|
APN |
11 |
107,772,531 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01083:Cacng5
|
APN |
11 |
107,772,531 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01084:Cacng5
|
APN |
11 |
107,772,531 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01956:Cacng5
|
APN |
11 |
107,773,735 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02136:Cacng5
|
APN |
11 |
107,772,557 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0040:Cacng5
|
UTSW |
11 |
107,775,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0078:Cacng5
|
UTSW |
11 |
107,768,259 (GRCm39) |
missense |
probably benign |
|
|
R0410:Cacng5
|
UTSW |
11 |
107,768,195 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0479:Cacng5
|
UTSW |
11 |
107,768,777 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5088:Cacng5
|
UTSW |
11 |
107,768,215 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5216:Cacng5
|
UTSW |
11 |
107,768,315 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5520:Cacng5
|
UTSW |
11 |
107,768,248 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6019:Cacng5
|
UTSW |
11 |
107,775,214 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6751:Cacng5
|
UTSW |
11 |
107,768,379 (GRCm39) |
missense |
probably benign |
|
|
R8712:Cacng5
|
UTSW |
11 |
107,772,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Cacng5
|
UTSW |
11 |
107,775,172 (GRCm39) |
missense |
probably null |
0.97 |
|
Z1176:Cacng5
|
UTSW |
11 |
107,768,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation