Incidental Mutation 'R2698:Gabra4'
| ID |
251295 |
| 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 |
040436-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2698 (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 71729421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 453
(H453R)
|
| 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: H427R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031121
Gene: ENSMUSG00000029211
AA Change: H427R
| 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: H453R
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000143675
Gene: ENSMUSG00000029211
AA Change: H453R
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
100% (63/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,578,862 (GRCm39) |
R901G |
possibly damaging |
Het |
| Abhd18 |
T |
A |
3: 40,885,401 (GRCm39) |
M262K |
probably benign |
Het |
| Ano2 |
C |
A |
6: 125,689,309 (GRCm39) |
L145I |
probably benign |
Het |
| Ckap5 |
T |
C |
2: 91,408,426 (GRCm39) |
W874R |
probably damaging |
Het |
| Cox4i1 |
G |
T |
8: 121,396,102 (GRCm39) |
|
probably benign |
Het |
| Cwc27 |
A |
T |
13: 104,943,259 (GRCm39) |
N94K |
probably damaging |
Het |
| Dcaf11 |
T |
C |
14: 55,804,342 (GRCm39) |
S372P |
probably damaging |
Het |
| Dpysl4 |
A |
G |
7: 138,676,681 (GRCm39) |
N356S |
probably damaging |
Het |
| Dusp8 |
A |
G |
7: 141,635,701 (GRCm39) |
|
probably benign |
Het |
| Erc2 |
G |
A |
14: 27,993,662 (GRCm39) |
V894M |
probably benign |
Het |
| Fbxo28 |
T |
A |
1: 182,144,719 (GRCm39) |
I282F |
probably benign |
Het |
| Fsd2 |
T |
C |
7: 81,195,608 (GRCm39) |
T434A |
probably damaging |
Het |
| Glrx |
T |
A |
13: 75,988,065 (GRCm39) |
|
probably null |
Het |
| Gm11541 |
A |
T |
11: 94,586,441 (GRCm39) |
L102* |
probably null |
Het |
| Gm5113 |
T |
A |
7: 29,878,150 (GRCm39) |
Y79* |
probably null |
Het |
| Gpr87 |
T |
A |
3: 59,086,587 (GRCm39) |
N306I |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,336,561 (GRCm39) |
Y5113N |
possibly damaging |
Het |
| Iqsec3 |
C |
T |
6: 121,390,430 (GRCm39) |
|
probably benign |
Het |
| Kbtbd8 |
C |
A |
6: 95,103,570 (GRCm39) |
Y406* |
probably null |
Het |
| Lamb1 |
G |
T |
12: 31,348,882 (GRCm39) |
R590L |
probably benign |
Het |
| Lin54 |
A |
T |
5: 100,628,109 (GRCm39) |
N31K |
probably damaging |
Het |
| Lnpk |
T |
C |
2: 74,367,845 (GRCm39) |
E165G |
probably damaging |
Het |
| Lrp4 |
C |
T |
2: 91,305,557 (GRCm39) |
R276C |
probably damaging |
Het |
| Lrrc7 |
T |
A |
3: 157,841,028 (GRCm39) |
T1384S |
probably benign |
Het |
| Mia2 |
T |
C |
12: 59,217,780 (GRCm39) |
|
probably null |
Het |
| Morc2a |
T |
C |
11: 3,635,400 (GRCm39) |
V797A |
probably damaging |
Het |
| Mrps23 |
T |
C |
11: 88,096,193 (GRCm39) |
|
probably benign |
Het |
| Muc17 |
A |
T |
5: 137,175,484 (GRCm39) |
I62K |
probably damaging |
Het |
| Nlrp4g |
T |
A |
9: 124,349,630 (GRCm38) |
|
noncoding transcript |
Het |
| Nptx1 |
A |
T |
11: 119,435,669 (GRCm39) |
|
probably benign |
Het |
| Or1j20 |
T |
A |
2: 36,760,208 (GRCm39) |
I210K |
possibly damaging |
Het |
| Pabpc1l |
T |
G |
2: 163,886,302 (GRCm39) |
|
probably null |
Het |
| Pdcd6ip |
A |
T |
9: 113,503,575 (GRCm39) |
|
probably null |
Het |
| Plcg1 |
A |
G |
2: 160,603,383 (GRCm39) |
T1185A |
possibly damaging |
Het |
| Plcxd1 |
A |
G |
5: 110,250,349 (GRCm39) |
Q230R |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,824,282 (GRCm39) |
|
probably null |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptch1 |
T |
A |
13: 63,690,038 (GRCm39) |
N320Y |
probably damaging |
Het |
| Qars1 |
G |
A |
9: 108,385,642 (GRCm39) |
V60I |
possibly damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rhag |
T |
C |
17: 41,147,367 (GRCm39) |
S410P |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,300,970 (GRCm39) |
K297E |
probably benign |
Het |
| Rps6ka4 |
T |
C |
19: 6,814,720 (GRCm39) |
E294G |
probably benign |
Het |
| Scaf4 |
T |
A |
16: 90,041,244 (GRCm39) |
I695F |
unknown |
Het |
| Scrn2 |
T |
C |
11: 96,923,122 (GRCm39) |
|
probably benign |
Het |
| Scx |
T |
A |
15: 76,342,363 (GRCm39) |
C188S |
probably damaging |
Het |
| Sdk1 |
G |
T |
5: 142,197,805 (GRCm39) |
V1893L |
possibly damaging |
Het |
| Sema5a |
C |
A |
15: 32,673,546 (GRCm39) |
Q795K |
probably damaging |
Het |
| Slc24a3 |
A |
G |
2: 145,455,487 (GRCm39) |
S459G |
probably benign |
Het |
| Smurf1 |
A |
G |
5: 144,820,372 (GRCm39) |
|
probably benign |
Het |
| Taar4 |
T |
C |
10: 23,837,328 (GRCm39) |
Y313H |
probably damaging |
Het |
| Tmprss11c |
A |
G |
5: 86,419,322 (GRCm39) |
F79S |
probably damaging |
Het |
| Tnfaip8l2 |
T |
A |
3: 95,047,672 (GRCm39) |
I64F |
possibly damaging |
Het |
| Trbv13-1 |
A |
G |
6: 41,093,372 (GRCm39) |
T102A |
probably damaging |
Het |
| Trpa1 |
A |
T |
1: 14,976,222 (GRCm39) |
N160K |
probably damaging |
Het |
| Ttc22 |
A |
G |
4: 106,496,435 (GRCm39) |
Y495C |
probably benign |
Het |
| Usp50 |
A |
G |
2: 126,619,949 (GRCm39) |
I121T |
probably damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,678,885 (GRCm39) |
S780P |
probably damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,644,607 (GRCm39) |
V601D |
probably damaging |
Het |
| Wapl |
G |
A |
14: 34,413,734 (GRCm39) |
A199T |
probably benign |
Het |
| Zfp658 |
A |
G |
7: 43,222,969 (GRCm39) |
T415A |
possibly damaging |
Het |
| Zfp760 |
C |
T |
17: 21,939,935 (GRCm39) |
T9I |
probably damaging |
Het |
| Zfp998 |
A |
G |
13: 66,581,495 (GRCm39) |
S59P |
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 |
|
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 |
|
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'- CGCCCAAGTCTAGATCCAAATG -3'
(R):5'- AGATAGATAGTGTCTGTAGCCTGC -3'
Sequencing Primer
(F):5'- TCTAGATCCAAATGCAGGGC -3'
(R):5'- TGGTATCTAGTTAAATGGCTACAGAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation