Incidental Mutation 'IGL01082:Cacng5'
| ID |
278161 |
| 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 # |
IGL01082
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
A |
1: 71,353,273 (GRCm39) |
S723F |
probably damaging |
Het |
| Ccdc116 |
A |
G |
16: 16,959,856 (GRCm39) |
S278P |
probably damaging |
Het |
| Cep152 |
A |
T |
2: 125,411,465 (GRCm39) |
|
probably benign |
Het |
| Cftr |
T |
C |
6: 18,226,102 (GRCm39) |
V350A |
probably damaging |
Het |
| Dsc2 |
A |
T |
18: 20,176,849 (GRCm39) |
N399K |
probably damaging |
Het |
| Eif3d |
T |
C |
15: 77,843,943 (GRCm39) |
T468A |
probably damaging |
Het |
| Fam110b |
C |
T |
4: 5,799,461 (GRCm39) |
A293V |
possibly damaging |
Het |
| Flrt1 |
T |
C |
19: 7,073,339 (GRCm39) |
T403A |
probably benign |
Het |
| H3c6 |
A |
G |
13: 23,746,548 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,267,429 (GRCm39) |
V609E |
possibly damaging |
Het |
| Klb |
G |
A |
5: 65,533,283 (GRCm39) |
V531I |
possibly damaging |
Het |
| Krt73 |
T |
C |
15: 101,707,372 (GRCm39) |
|
probably null |
Het |
| Mcm2 |
A |
G |
6: 88,864,859 (GRCm39) |
V539A |
probably benign |
Het |
| Myb |
A |
G |
10: 21,028,843 (GRCm39) |
V85A |
probably damaging |
Het |
| Ndufs1 |
T |
C |
1: 63,203,976 (GRCm39) |
E102G |
probably damaging |
Het |
| Nr5a2 |
C |
A |
1: 136,773,206 (GRCm39) |
A499S |
probably benign |
Het |
| Opa1 |
A |
T |
16: 29,436,933 (GRCm39) |
|
probably benign |
Het |
| Or14j5 |
T |
A |
17: 38,161,514 (GRCm39) |
S10R |
probably benign |
Het |
| Or4a47 |
A |
T |
2: 89,674,407 (GRCm39) |
|
probably benign |
Het |
| Or4c11b |
T |
C |
2: 88,625,637 (GRCm39) |
F304L |
probably benign |
Het |
| Pcnx1 |
G |
A |
12: 82,037,372 (GRCm39) |
E1877K |
possibly damaging |
Het |
| Sel1l |
A |
G |
12: 91,778,682 (GRCm39) |
V711A |
probably benign |
Het |
| Slc22a16 |
A |
G |
10: 40,449,860 (GRCm39) |
T120A |
probably benign |
Het |
| Slc26a1 |
G |
T |
5: 108,819,744 (GRCm39) |
T485N |
possibly damaging |
Het |
| Sp100 |
T |
C |
1: 85,597,741 (GRCm39) |
V201A |
possibly damaging |
Het |
| Spz1 |
T |
G |
13: 92,712,029 (GRCm39) |
K149T |
probably damaging |
Het |
| Stxbp5l |
A |
G |
16: 37,024,940 (GRCm39) |
S553P |
possibly damaging |
Het |
| Szt2 |
A |
G |
4: 118,254,821 (GRCm39) |
S290P |
probably damaging |
Het |
| Tbc1d10c |
A |
G |
19: 4,239,026 (GRCm39) |
Y165H |
probably damaging |
Het |
| Tnxb |
C |
A |
17: 34,933,584 (GRCm39) |
Q2335K |
probably damaging |
Het |
| Trim33 |
T |
C |
3: 103,234,175 (GRCm39) |
I471T |
possibly damaging |
Het |
| Vsig10 |
A |
G |
5: 117,472,970 (GRCm39) |
I188V |
probably benign |
Het |
| Zfp109 |
A |
T |
7: 23,933,784 (GRCm39) |
L45Q |
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 |
107,772,531 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01080:Cacng5
|
APN |
11 |
107,768,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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