Incidental Mutation 'IGL02749:Gabra4'
| ID |
306207 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gabra4
|
| Ensembl Gene |
ENSMUSG00000029211 |
| Gene Name |
gamma-aminobutyric acid type A receptor subunit alpha 4 |
| Synonyms |
Gabra-4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02749
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
71727092-71815651 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 71795490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 262
(I262F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143675
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031121]
[ENSMUST00000197994]
[ENSMUST00000198138]
[ENSMUST00000199357]
|
| AlphaFold |
Q9D6F4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031121
AA Change: I236F
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000031121
Gene: ENSMUSG00000029211
AA Change: I236F
| 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 |
probably benign
Transcript: ENSMUST00000199357
AA Change: I262F
PolyPhen 2
Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143675
Gene: ENSMUSG00000029211
AA Change: I262F
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230104M06Rik |
T |
C |
12: 112,963,795 (GRCm39) |
D61G |
probably benign |
Het |
| Albfm1 |
T |
C |
5: 90,719,624 (GRCm39) |
V240A |
possibly damaging |
Het |
| Ascc2 |
G |
A |
11: 4,590,481 (GRCm39) |
|
probably null |
Het |
| Atrn |
C |
T |
2: 130,812,064 (GRCm39) |
Q670* |
probably null |
Het |
| Atrn |
G |
T |
2: 130,789,654 (GRCm39) |
|
probably benign |
Het |
| Calr |
A |
C |
8: 85,571,117 (GRCm39) |
W236G |
probably damaging |
Het |
| Camk2g |
T |
A |
14: 20,816,084 (GRCm39) |
|
probably null |
Het |
| Cd101 |
G |
T |
3: 100,927,715 (GRCm39) |
T122K |
probably damaging |
Het |
| Cert1 |
T |
A |
13: 96,765,643 (GRCm39) |
N469K |
possibly damaging |
Het |
| Cryl1 |
T |
C |
14: 57,541,181 (GRCm39) |
T168A |
probably benign |
Het |
| Diaph3 |
A |
G |
14: 87,156,261 (GRCm39) |
I684T |
probably damaging |
Het |
| Ednrb |
A |
T |
14: 104,060,495 (GRCm39) |
M266K |
possibly damaging |
Het |
| Eif4h |
T |
C |
5: 134,668,146 (GRCm39) |
D3G |
probably damaging |
Het |
| Eny2 |
C |
T |
15: 44,293,031 (GRCm39) |
R28C |
possibly damaging |
Het |
| Epsti1 |
A |
G |
14: 78,177,363 (GRCm39) |
E181G |
probably damaging |
Het |
| Ezh2 |
A |
G |
6: 47,510,698 (GRCm39) |
F598S |
probably damaging |
Het |
| Fat3 |
G |
T |
9: 15,918,007 (GRCm39) |
T1472K |
possibly damaging |
Het |
| Gpat4 |
A |
T |
8: 23,670,886 (GRCm39) |
Y109N |
probably damaging |
Het |
| Gpsm1 |
C |
T |
2: 26,229,687 (GRCm39) |
T36I |
probably damaging |
Het |
| Hikeshi |
C |
T |
7: 89,585,097 (GRCm39) |
V36I |
possibly damaging |
Het |
| Hip1 |
T |
C |
5: 135,473,605 (GRCm39) |
M238V |
probably benign |
Het |
| Hnrnpll |
A |
T |
17: 80,369,420 (GRCm39) |
M1K |
probably null |
Het |
| Irx2 |
G |
A |
13: 72,779,429 (GRCm39) |
D238N |
probably damaging |
Het |
| Kcnip4 |
T |
A |
5: 48,567,127 (GRCm39) |
|
probably benign |
Het |
| Lair1 |
G |
A |
7: 4,031,900 (GRCm39) |
T69I |
possibly damaging |
Het |
| Lamc1 |
A |
G |
1: 153,125,599 (GRCm39) |
I558T |
possibly damaging |
Het |
| Map4k5 |
C |
T |
12: 69,862,580 (GRCm39) |
E639K |
probably benign |
Het |
| Mc4r |
A |
G |
18: 66,992,733 (GRCm39) |
S127P |
probably damaging |
Het |
| Mmp23 |
A |
G |
4: 155,735,989 (GRCm39) |
M221T |
possibly damaging |
Het |
| Mre11a |
T |
C |
9: 14,737,887 (GRCm39) |
S587P |
possibly damaging |
Het |
| Myh9 |
A |
T |
15: 77,692,186 (GRCm39) |
Y124* |
probably null |
Het |
| Nek9 |
C |
A |
12: 85,352,281 (GRCm39) |
A861S |
probably benign |
Het |
| Nup155 |
T |
A |
15: 8,163,560 (GRCm39) |
Y576N |
probably damaging |
Het |
| Or5w10 |
C |
T |
2: 87,375,001 (GRCm39) |
V296M |
probably damaging |
Het |
| Pcca |
A |
T |
14: 122,771,800 (GRCm39) |
T8S |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,466,900 (GRCm39) |
D1573G |
probably benign |
Het |
| Pdpr |
T |
A |
8: 111,844,722 (GRCm39) |
V373E |
probably benign |
Het |
| Pdzph1 |
A |
T |
17: 59,239,478 (GRCm39) |
L950Q |
possibly damaging |
Het |
| Pira13 |
A |
G |
7: 3,825,624 (GRCm39) |
I415T |
probably damaging |
Het |
| Prss35 |
A |
C |
9: 86,638,297 (GRCm39) |
K356Q |
probably damaging |
Het |
| Psg22 |
A |
T |
7: 18,456,944 (GRCm39) |
T237S |
possibly damaging |
Het |
| Rdh13 |
A |
G |
7: 4,430,703 (GRCm39) |
Y252H |
probably damaging |
Het |
| Sema3d |
T |
C |
5: 12,613,112 (GRCm39) |
|
probably benign |
Het |
| Slc35b2 |
G |
A |
17: 45,877,493 (GRCm39) |
V207I |
probably benign |
Het |
| Sparcl1 |
T |
G |
5: 104,240,746 (GRCm39) |
E226A |
possibly damaging |
Het |
| Srms |
C |
A |
2: 180,851,302 (GRCm39) |
A155S |
possibly damaging |
Het |
| Tas2r107 |
A |
T |
6: 131,636,917 (GRCm39) |
I44N |
probably damaging |
Het |
| Tmem236 |
C |
T |
2: 14,224,132 (GRCm39) |
T307M |
probably damaging |
Het |
| Ush2a |
C |
T |
1: 188,679,155 (GRCm39) |
P4788S |
probably damaging |
Het |
| Vmn1r170 |
A |
T |
7: 23,305,716 (GRCm39) |
L39F |
probably benign |
Het |
| Vmn2r90 |
T |
A |
17: 17,947,122 (GRCm39) |
*121R |
probably null |
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 |
|
|
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 |
|
R2095:Gabra4
|
UTSW |
5 |
71,781,455 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation