Incidental Mutation 'R5889:Gabra4'
| ID |
456217 |
| 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 |
044090-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5889 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
71727092-71815651 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 71729234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 515
(N515K)
|
| 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: N489K
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000031121
Gene: ENSMUSG00000029211
AA Change: N489K
| 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: N515K
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000143675
Gene: ENSMUSG00000029211
AA Change: N515K
| 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 |
0.0778 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.3%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
C |
2: 35,244,461 (GRCm39) |
E297G |
probably damaging |
Het |
| Astn1 |
C |
T |
1: 158,427,950 (GRCm39) |
P707L |
possibly damaging |
Het |
| Cep290 |
T |
C |
10: 100,334,936 (GRCm39) |
S319P |
possibly damaging |
Het |
| Chrna4 |
A |
C |
2: 180,670,451 (GRCm39) |
L435W |
probably damaging |
Het |
| Cilp |
C |
A |
9: 65,187,625 (GRCm39) |
A1240D |
possibly damaging |
Het |
| Col17a1 |
A |
G |
19: 47,637,511 (GRCm39) |
F1249S |
possibly damaging |
Het |
| Creb3l3 |
T |
C |
10: 80,928,367 (GRCm39) |
|
probably benign |
Het |
| Cyp4f40 |
C |
A |
17: 32,894,731 (GRCm39) |
T432N |
probably benign |
Het |
| Dsg1c |
T |
G |
18: 20,416,658 (GRCm39) |
I853R |
possibly damaging |
Het |
| Ebna1bp2 |
T |
A |
4: 118,478,620 (GRCm39) |
D34E |
probably damaging |
Het |
| Edc4 |
C |
T |
8: 106,614,654 (GRCm39) |
T112I |
possibly damaging |
Het |
| Enpep |
T |
A |
3: 129,106,227 (GRCm39) |
Y333F |
probably damaging |
Het |
| Exoc6 |
A |
G |
19: 37,570,693 (GRCm39) |
H291R |
probably damaging |
Het |
| Fbln5 |
G |
T |
12: 101,731,485 (GRCm39) |
N236K |
probably damaging |
Het |
| Fndc8 |
A |
T |
11: 82,789,555 (GRCm39) |
T238S |
probably damaging |
Het |
| Frem3 |
T |
C |
8: 81,340,917 (GRCm39) |
V1070A |
probably damaging |
Het |
| Gemin5 |
A |
G |
11: 58,013,181 (GRCm39) |
V1422A |
possibly damaging |
Het |
| Gm10118 |
A |
G |
10: 63,762,890 (GRCm39) |
|
probably benign |
Het |
| Grm5 |
A |
G |
7: 87,252,281 (GRCm39) |
D177G |
probably damaging |
Het |
| Gtf2h4 |
G |
A |
17: 35,981,792 (GRCm39) |
P147L |
possibly damaging |
Het |
| Hgsnat |
T |
C |
8: 26,453,395 (GRCm39) |
D265G |
probably damaging |
Het |
| Hsd17b4 |
T |
A |
18: 50,310,276 (GRCm39) |
L513Q |
probably damaging |
Het |
| Hsd17b7 |
A |
T |
1: 169,783,487 (GRCm39) |
M307K |
probably benign |
Het |
| Hspa5 |
T |
C |
2: 34,664,629 (GRCm39) |
V361A |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,768,550 (GRCm39) |
V1450A |
probably benign |
Het |
| Itpr3 |
A |
G |
17: 27,334,039 (GRCm39) |
E2037G |
probably damaging |
Het |
| Itprid2 |
T |
A |
2: 79,488,072 (GRCm39) |
D718E |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,835,467 (GRCm39) |
|
probably benign |
Het |
| Manba |
G |
T |
3: 135,230,359 (GRCm39) |
G311* |
probably null |
Het |
| Mettl24 |
T |
A |
10: 40,622,486 (GRCm39) |
V236E |
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,977,201 (GRCm39) |
D310G |
probably damaging |
Het |
| Ncoa4 |
A |
T |
14: 31,888,616 (GRCm39) |
|
probably benign |
Het |
| Nop56 |
G |
T |
2: 130,117,902 (GRCm39) |
R126L |
probably damaging |
Het |
| Nos3 |
C |
A |
5: 24,573,775 (GRCm39) |
|
probably benign |
Het |
| Or13c7b |
T |
C |
4: 43,820,492 (GRCm39) |
M290V |
possibly damaging |
Het |
| Pcdhga3 |
T |
A |
18: 37,809,662 (GRCm39) |
V705D |
probably damaging |
Het |
| Prom2 |
C |
T |
2: 127,371,331 (GRCm39) |
A776T |
possibly damaging |
Het |
| Prss48 |
A |
G |
3: 85,905,492 (GRCm39) |
I127T |
probably damaging |
Het |
| Rtca |
T |
C |
3: 116,293,232 (GRCm39) |
Y193C |
possibly damaging |
Het |
| Samd9l |
T |
C |
6: 3,376,460 (GRCm39) |
Y267C |
probably damaging |
Het |
| Scube3 |
A |
G |
17: 28,379,887 (GRCm39) |
R272G |
possibly damaging |
Het |
| Sprr1a |
G |
T |
3: 92,391,951 (GRCm39) |
H17N |
probably benign |
Het |
| Stard3 |
G |
C |
11: 98,266,361 (GRCm39) |
Q120H |
probably benign |
Het |
| Supt6 |
A |
G |
11: 78,103,574 (GRCm39) |
I1377T |
probably damaging |
Het |
| Svop |
A |
T |
5: 114,203,692 (GRCm39) |
S30T |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,119,026 (GRCm39) |
L5882* |
probably null |
Het |
| Tanc2 |
G |
T |
11: 105,812,633 (GRCm39) |
R1359L |
probably benign |
Het |
| Tmc7 |
A |
C |
7: 118,165,549 (GRCm39) |
L55R |
probably benign |
Het |
| Trappc11 |
G |
A |
8: 47,972,613 (GRCm39) |
A320V |
probably benign |
Het |
| Ttll8 |
G |
C |
15: 88,818,142 (GRCm39) |
P178A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,560,993 (GRCm39) |
E20809G |
probably damaging |
Het |
| Tubb2a |
A |
T |
13: 34,259,451 (GRCm39) |
V113E |
possibly damaging |
Het |
| Ube2d1 |
A |
T |
10: 71,095,699 (GRCm39) |
|
probably benign |
Het |
| Usp48 |
T |
C |
4: 137,343,723 (GRCm39) |
V452A |
probably benign |
Het |
| Vldlr |
T |
A |
19: 27,217,064 (GRCm39) |
I39N |
probably damaging |
Het |
| Wbp1l |
C |
T |
19: 46,642,619 (GRCm39) |
R191* |
probably null |
Het |
| Zyg11b |
C |
T |
4: 108,094,577 (GRCm39) |
W669* |
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 |
|
|
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 |
|
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 |
|
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'- GACAGTCTGTATTTCCATCGTTG -3'
(R):5'- CCATTCAGCAGGGCAAATGC -3'
Sequencing Primer
(F):5'- AGACTTTCTGATTTCTCCATGGTG -3'
(R):5'- CAAATGCAGCTGAGACTATGTCTGC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation