Incidental Mutation 'R2095:Gabra4'
| ID |
232034 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gabra4
|
| Ensembl Gene |
ENSMUSG00000029211 |
| Gene Name |
gamma-aminobutyric acid type A receptor subunit alpha 4 |
| Synonyms |
Gabra-4 |
| MMRRC Submission |
040099-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2095 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
71727092-71815651 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71781455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 293
(I293V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031121]
[ENSMUST00000197994]
[ENSMUST00000198138]
[ENSMUST00000199357]
|
| AlphaFold |
Q9D6F4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031121
AA Change: I293V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031121
Gene: ENSMUSG00000029211
AA Change: I293V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
48 |
256 |
8.8e-52 |
PFAM |
|
Pfam:Neur_chan_memb
|
263 |
536 |
3.4e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197994
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198138
|
| SMART Domains |
Protein: ENSMUSP00000142466
Gene: ENSMUSG00000029211
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
SCOP:d1i9ba_
|
53 |
69 |
3e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199357
AA Change: I319V
PolyPhen 2
Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143675
Gene: ENSMUSG00000029211
AA Change: I319V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
91 |
282 |
1.7e-45 |
PFAM |
|
Pfam:Neur_chan_memb
|
289 |
562 |
3.3e-44 |
PFAM |
|
| Meta Mutation Damage Score |
0.1191 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
97% (58/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. This gene encodes subunit alpha-4, which is involved in the etiology of autism and eventually increases autism risk through interaction with another subunit, gamma-aminobutyric acid receptor beta-1 (GABRB1). Alternatively spliced transcript variants encoding different isoforms have been found in this gene.[provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous mutation of this gene does not appear to result in a phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530002B09Rik |
C |
A |
4: 122,596,151 (GRCm39) |
Y127* |
probably null |
Het |
| Adam33 |
C |
T |
2: 130,895,629 (GRCm39) |
G562D |
probably damaging |
Het |
| Adh1 |
T |
C |
3: 137,988,557 (GRCm39) |
F177L |
probably damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,530,470 (GRCm39) |
T1439A |
probably damaging |
Het |
| Arl5c |
C |
T |
11: 97,884,277 (GRCm39) |
E105K |
probably damaging |
Het |
| Armc3 |
T |
A |
2: 19,293,740 (GRCm39) |
D510E |
possibly damaging |
Het |
| Bbx |
T |
C |
16: 50,045,052 (GRCm39) |
E395G |
possibly damaging |
Het |
| Cacna2d2 |
G |
A |
9: 107,404,364 (GRCm39) |
E1087K |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,043,529 (GRCm39) |
N113S |
probably benign |
Het |
| Cbfa2t3 |
A |
G |
8: 123,361,727 (GRCm39) |
S432P |
probably benign |
Het |
| Ccn2 |
T |
C |
10: 24,472,377 (GRCm39) |
V140A |
probably benign |
Het |
| Cd163 |
A |
G |
6: 124,294,781 (GRCm39) |
D615G |
probably damaging |
Het |
| Chrnb2 |
A |
T |
3: 89,668,744 (GRCm39) |
D190E |
probably benign |
Het |
| Clec9a |
T |
C |
6: 129,393,321 (GRCm39) |
L115P |
possibly damaging |
Het |
| Cluh |
C |
T |
11: 74,552,550 (GRCm39) |
R532* |
probably null |
Het |
| Cntnap5a |
T |
A |
1: 116,369,990 (GRCm39) |
L869Q |
probably damaging |
Het |
| Cyp3a57 |
A |
T |
5: 145,305,944 (GRCm39) |
K143* |
probably null |
Het |
| Dcaf12 |
G |
T |
4: 41,294,085 (GRCm39) |
H351N |
probably benign |
Het |
| Dtna |
T |
A |
18: 23,702,805 (GRCm39) |
L112Q |
probably damaging |
Het |
| Fnta |
G |
A |
8: 26,489,907 (GRCm39) |
Q303* |
probably null |
Het |
| Frs2 |
T |
C |
10: 116,910,507 (GRCm39) |
E285G |
probably benign |
Het |
| Gm2431 |
A |
T |
7: 141,811,518 (GRCm39) |
C129S |
unknown |
Het |
| Gnl2 |
C |
T |
4: 124,928,111 (GRCm39) |
R49C |
probably damaging |
Het |
| Helz |
T |
A |
11: 107,536,972 (GRCm39) |
Y275N |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,189,289 (GRCm39) |
E1231G |
probably damaging |
Het |
| Kctd11 |
T |
A |
11: 69,770,402 (GRCm39) |
D212V |
probably damaging |
Het |
| Klf3 |
T |
A |
5: 64,979,245 (GRCm39) |
M29K |
probably benign |
Het |
| Klhl21 |
T |
C |
4: 152,093,850 (GRCm39) |
S151P |
probably benign |
Het |
| Lsm14b |
A |
T |
2: 179,673,580 (GRCm39) |
|
probably benign |
Het |
| Mlxipl |
T |
C |
5: 135,150,974 (GRCm39) |
|
probably benign |
Het |
| Mov10 |
G |
A |
3: 104,708,847 (GRCm39) |
R389C |
probably damaging |
Het |
| Msh6 |
A |
G |
17: 88,295,661 (GRCm39) |
M1071V |
possibly damaging |
Het |
| Myh8 |
G |
T |
11: 67,177,050 (GRCm39) |
A401S |
probably benign |
Het |
| Ndufv3 |
T |
C |
17: 31,746,460 (GRCm39) |
S117P |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,984,410 (GRCm39) |
|
probably null |
Het |
| Or1e22 |
T |
A |
11: 73,377,420 (GRCm39) |
T77S |
probably damaging |
Het |
| Or2l13 |
T |
C |
16: 19,305,681 (GRCm39) |
I31T |
probably benign |
Het |
| Or4c11c |
T |
C |
2: 88,661,634 (GRCm39) |
Y58H |
probably damaging |
Het |
| Or8g50 |
T |
A |
9: 39,648,557 (GRCm39) |
Y149N |
probably damaging |
Het |
| Pcdhb17 |
T |
A |
18: 37,619,375 (GRCm39) |
D388E |
probably benign |
Het |
| Pgm3 |
T |
C |
9: 86,438,394 (GRCm39) |
T423A |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| S1pr5 |
T |
A |
9: 21,156,154 (GRCm39) |
T91S |
probably benign |
Het |
| Sgcz |
T |
C |
8: 38,007,546 (GRCm39) |
|
probably benign |
Het |
| Slc33a1 |
A |
G |
3: 63,871,376 (GRCm39) |
L79P |
probably damaging |
Het |
| Slco2a1 |
A |
G |
9: 102,954,167 (GRCm39) |
T383A |
probably benign |
Het |
| Slit1 |
G |
A |
19: 41,594,819 (GRCm39) |
R1184W |
probably damaging |
Het |
| Spta1 |
T |
A |
1: 174,071,764 (GRCm39) |
M2248K |
possibly damaging |
Het |
| Stub1 |
A |
G |
17: 26,049,864 (GRCm39) |
Y304H |
probably damaging |
Het |
| Taar7e |
T |
A |
10: 23,913,949 (GRCm39) |
Y146* |
probably null |
Het |
| Tbc1d1 |
C |
T |
5: 64,473,844 (GRCm39) |
S660L |
probably benign |
Het |
| Tcea2 |
C |
A |
2: 181,328,725 (GRCm39) |
F259L |
probably damaging |
Het |
| Tcp11l1 |
T |
A |
2: 104,512,185 (GRCm39) |
K482N |
probably damaging |
Het |
| Trpv6 |
C |
T |
6: 41,598,690 (GRCm39) |
R645Q |
probably damaging |
Het |
| Uaca |
T |
A |
9: 60,748,125 (GRCm39) |
S30T |
probably benign |
Het |
| Ubap2 |
C |
G |
4: 41,206,901 (GRCm39) |
V492L |
possibly damaging |
Het |
| Ube3c |
T |
C |
5: 29,873,038 (GRCm39) |
F1026S |
probably damaging |
Het |
| Vmn2r8 |
T |
G |
5: 108,956,487 (GRCm39) |
D45A |
possibly damaging |
Het |
| Zfp738 |
G |
T |
13: 67,819,422 (GRCm39) |
L180I |
probably damaging |
Het |
|
| Other mutations in Gabra4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01111:Gabra4
|
APN |
5 |
71,790,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01503:Gabra4
|
APN |
5 |
71,798,429 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL02028:Gabra4
|
APN |
5 |
71,790,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02688:Gabra4
|
APN |
5 |
71,729,510 (GRCm39) |
missense |
probably benign |
|
|
IGL02749:Gabra4
|
APN |
5 |
71,795,490 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL03095:Gabra4
|
APN |
5 |
71,781,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03330:Gabra4
|
APN |
5 |
71,798,407 (GRCm39) |
missense |
probably null |
1.00 |
|
E0354:Gabra4
|
UTSW |
5 |
71,798,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4142001:Gabra4
|
UTSW |
5 |
71,729,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1523:Gabra4
|
UTSW |
5 |
71,790,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1622:Gabra4
|
UTSW |
5 |
71,729,329 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1689:Gabra4
|
UTSW |
5 |
71,790,885 (GRCm39) |
splice site |
probably null |
|
|
R1930:Gabra4
|
UTSW |
5 |
71,795,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1931:Gabra4
|
UTSW |
5 |
71,795,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1967:Gabra4
|
UTSW |
5 |
71,729,412 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2131:Gabra4
|
UTSW |
5 |
71,798,567 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2698:Gabra4
|
UTSW |
5 |
71,729,421 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3884:Gabra4
|
UTSW |
5 |
71,814,600 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3924:Gabra4
|
UTSW |
5 |
71,799,596 (GRCm39) |
splice site |
probably benign |
|
|
R4029:Gabra4
|
UTSW |
5 |
71,729,532 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4361:Gabra4
|
UTSW |
5 |
71,790,888 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4659:Gabra4
|
UTSW |
5 |
71,798,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4682:Gabra4
|
UTSW |
5 |
71,815,152 (GRCm39) |
start codon destroyed |
probably null |
0.74 |
|
R4810:Gabra4
|
UTSW |
5 |
71,781,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4888:Gabra4
|
UTSW |
5 |
71,729,546 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5093:Gabra4
|
UTSW |
5 |
71,798,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5121:Gabra4
|
UTSW |
5 |
71,729,546 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5889:Gabra4
|
UTSW |
5 |
71,729,234 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5906:Gabra4
|
UTSW |
5 |
71,781,253 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6574:Gabra4
|
UTSW |
5 |
71,781,268 (GRCm39) |
missense |
probably benign |
|
|
R7068:Gabra4
|
UTSW |
5 |
71,729,402 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7571:Gabra4
|
UTSW |
5 |
71,729,335 (GRCm39) |
missense |
probably benign |
|
|
R7815:Gabra4
|
UTSW |
5 |
71,815,152 (GRCm39) |
start codon destroyed |
possibly damaging |
0.54 |
|
R7817:Gabra4
|
UTSW |
5 |
71,798,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7840:Gabra4
|
UTSW |
5 |
71,798,256 (GRCm39) |
splice site |
probably null |
|
|
R7899:Gabra4
|
UTSW |
5 |
71,815,338 (GRCm39) |
unclassified |
probably benign |
|
|
R8000:Gabra4
|
UTSW |
5 |
71,781,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8057:Gabra4
|
UTSW |
5 |
71,781,295 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8996:Gabra4
|
UTSW |
5 |
71,729,046 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9623:Gabra4
|
UTSW |
5 |
71,791,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9682:Gabra4
|
UTSW |
5 |
71,798,415 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9756:Gabra4
|
UTSW |
5 |
71,729,067 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9762:Gabra4
|
UTSW |
5 |
71,814,463 (GRCm39) |
missense |
unknown |
|
|
R9787:Gabra4
|
UTSW |
5 |
71,791,004 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1176:Gabra4
|
UTSW |
5 |
71,781,238 (GRCm39) |
missense |
probably benign |
0.40 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAGCAGCTGGAACTTCTG -3'
(R):5'- TTCCAAAACCTGTGCTGATTTC -3'
Sequencing Primer
(F):5'- CAGCTGGAACTTCTGGGGGAG -3'
(R):5'- CCTGTGCTGATTTCACTGAAACAG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation