Incidental Mutation 'IGL01080:Cacng5'
| ID |
278159 |
| 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: 0.055)
|
| Stock # |
IGL01080
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,984,258 (GRCm39) |
R663W |
probably damaging |
Het |
| Cd96 |
T |
C |
16: 45,870,056 (GRCm39) |
E471G |
possibly damaging |
Het |
| Cpt1c |
T |
C |
7: 44,610,333 (GRCm39) |
D621G |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,744,799 (GRCm39) |
I1503V |
probably benign |
Het |
| Dmgdh |
T |
C |
13: 93,840,286 (GRCm39) |
|
probably benign |
Het |
| Flg |
A |
T |
3: 93,186,906 (GRCm39) |
K119N |
probably benign |
Het |
| Gale |
T |
C |
4: 135,693,389 (GRCm39) |
Y104H |
probably damaging |
Het |
| Gm8005 |
T |
C |
14: 42,258,971 (GRCm39) |
D119G |
unknown |
Het |
| Gstk1 |
A |
T |
6: 42,223,560 (GRCm39) |
D50V |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,720,389 (GRCm39) |
D3866G |
unknown |
Het |
| Mastl |
A |
G |
2: 23,036,160 (GRCm39) |
S119P |
probably damaging |
Het |
| Or2aj4 |
A |
T |
16: 19,384,958 (GRCm39) |
V225E |
probably damaging |
Het |
| Phf11c |
G |
A |
14: 59,630,648 (GRCm39) |
T19I |
probably benign |
Het |
| Ppp1r16b |
A |
G |
2: 158,599,092 (GRCm39) |
T355A |
probably damaging |
Het |
| Prmt7 |
T |
G |
8: 106,963,846 (GRCm39) |
|
probably benign |
Het |
| Rad50 |
T |
C |
11: 53,596,895 (GRCm39) |
T44A |
probably damaging |
Het |
| Rangap1 |
C |
T |
15: 81,589,953 (GRCm39) |
|
probably benign |
Het |
| Slc27a3 |
A |
T |
3: 90,292,767 (GRCm39) |
V634E |
probably benign |
Het |
| Tbxas1 |
T |
A |
6: 38,998,115 (GRCm39) |
L228I |
probably damaging |
Het |
| Tnfaip3 |
T |
C |
10: 18,887,403 (GRCm39) |
K41E |
probably benign |
Het |
| Tti1 |
C |
T |
2: 157,824,379 (GRCm39) |
V1025I |
probably damaging |
Het |
| Tyrobp |
T |
C |
7: 30,116,841 (GRCm39) |
|
probably null |
Het |
| Wfdc16 |
A |
T |
2: 164,480,406 (GRCm39) |
W30R |
probably damaging |
Het |
| Zyg11b |
A |
T |
4: 108,094,613 (GRCm39) |
L657Q |
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 |
|
IGL01077: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