Incidental Mutation 'R7068:Gabra4'
| ID |
548677 |
| 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 |
045164-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7068 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
71727092-71815651 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 71729402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 433
(N433K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031121]
[ENSMUST00000197994]
[ENSMUST00000198138]
[ENSMUST00000199357]
|
| AlphaFold |
Q9D6F4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031121
AA Change: N433K
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000031121
Gene: ENSMUSG00000029211
AA Change: N433K
| 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: N459K
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000143675
Gene: ENSMUSG00000029211
AA Change: N459K
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm1 |
A |
G |
7: 119,221,803 (GRCm39) |
H24R |
probably benign |
Het |
| Ago2 |
A |
T |
15: 73,018,299 (GRCm39) |
F46L |
probably damaging |
Het |
| Amd1 |
A |
G |
10: 40,166,508 (GRCm39) |
F123L |
probably benign |
Het |
| Arhgef10 |
T |
C |
8: 15,008,639 (GRCm39) |
F546L |
probably damaging |
Het |
| Asic2 |
G |
A |
11: 81,043,081 (GRCm39) |
H71Y |
probably benign |
Het |
| Asphd1 |
A |
G |
7: 126,547,850 (GRCm39) |
V151A |
probably benign |
Het |
| Best3 |
T |
C |
10: 116,824,543 (GRCm39) |
V3A |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,952,451 (GRCm39) |
L1196P |
probably damaging |
Het |
| Cd22 |
A |
G |
7: 30,577,504 (GRCm39) |
V3A |
probably benign |
Het |
| Cdkl3 |
T |
C |
11: 51,902,154 (GRCm39) |
|
probably null |
Het |
| Clcnka |
A |
T |
4: 141,114,421 (GRCm39) |
V631E |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,229,205 (GRCm39) |
V1961A |
possibly damaging |
Het |
| Dnah14 |
A |
G |
1: 181,597,355 (GRCm39) |
E3559G |
probably benign |
Het |
| Emsy |
A |
T |
7: 98,259,968 (GRCm39) |
D39E |
probably benign |
Het |
| Fbxl16 |
G |
T |
17: 26,038,485 (GRCm39) |
V477F |
possibly damaging |
Het |
| Flt1 |
A |
T |
5: 147,610,444 (GRCm39) |
I393N |
probably damaging |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Ghsr |
T |
A |
3: 27,425,986 (GRCm39) |
V14D |
probably benign |
Het |
| Glb1l |
A |
G |
1: 75,179,381 (GRCm39) |
Y183H |
probably damaging |
Het |
| Hycc1 |
A |
G |
5: 24,169,793 (GRCm39) |
S519P |
possibly damaging |
Het |
| Ighv3-4 |
T |
C |
12: 114,217,274 (GRCm39) |
T106A |
probably damaging |
Het |
| Ik |
T |
G |
18: 36,888,518 (GRCm39) |
F439V |
possibly damaging |
Het |
| Itih5 |
T |
C |
2: 10,254,115 (GRCm39) |
S789P |
probably damaging |
Het |
| Kcnj8 |
T |
C |
6: 142,511,965 (GRCm39) |
D214G |
probably damaging |
Het |
| Kdm5a |
C |
A |
6: 120,407,176 (GRCm39) |
H1464N |
probably benign |
Het |
| Klb |
A |
T |
5: 65,536,683 (GRCm39) |
Y671F |
probably damaging |
Het |
| Kremen2 |
C |
A |
17: 23,960,859 (GRCm39) |
R421L |
possibly damaging |
Het |
| Mroh9 |
T |
A |
1: 162,866,750 (GRCm39) |
D662V |
probably damaging |
Het |
| Mtmr12 |
T |
G |
15: 12,257,756 (GRCm39) |
M278R |
probably null |
Het |
| Ndufa8 |
T |
C |
2: 35,934,447 (GRCm39) |
M44V |
possibly damaging |
Het |
| Nedd4l |
A |
T |
18: 65,338,722 (GRCm39) |
R695S |
probably damaging |
Het |
| Nuf2 |
G |
A |
1: 169,349,988 (GRCm39) |
P97S |
probably damaging |
Het |
| Or14c46 |
A |
C |
7: 85,918,745 (GRCm39) |
L84R |
probably damaging |
Het |
| Or2ah1 |
T |
C |
2: 85,653,396 (GRCm39) |
V27A |
probably benign |
Het |
| Or5ac24 |
T |
C |
16: 59,165,567 (GRCm39) |
T166A |
possibly damaging |
Het |
| P4ha2 |
A |
G |
11: 54,001,820 (GRCm39) |
T33A |
probably benign |
Het |
| Parp1 |
A |
G |
1: 180,416,233 (GRCm39) |
H544R |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,061,969 (GRCm39) |
L2678P |
probably damaging |
Het |
| Rad1 |
T |
A |
15: 10,490,379 (GRCm39) |
Y85* |
probably null |
Het |
| Sema6d |
A |
G |
2: 124,499,741 (GRCm39) |
I309V |
probably benign |
Het |
| Skint2 |
T |
C |
4: 112,481,548 (GRCm39) |
V137A |
probably damaging |
Het |
| Slc23a3 |
T |
C |
1: 75,109,877 (GRCm39) |
N130S |
probably benign |
Het |
| Slc35f1 |
T |
C |
10: 52,938,596 (GRCm39) |
F176S |
probably damaging |
Het |
| Slc44a2 |
T |
A |
9: 21,232,144 (GRCm39) |
Y10N |
probably benign |
Het |
| Smarcc1 |
A |
G |
9: 110,014,952 (GRCm39) |
T506A |
probably damaging |
Het |
| Smchd1 |
A |
T |
17: 71,694,087 (GRCm39) |
S1219R |
probably benign |
Het |
| Smco1 |
A |
G |
16: 32,092,929 (GRCm39) |
N200S |
probably benign |
Het |
| Srcap |
A |
G |
7: 127,141,115 (GRCm39) |
T1571A |
probably benign |
Het |
| Strip2 |
C |
T |
6: 29,932,207 (GRCm39) |
T459I |
probably benign |
Het |
| Tarbp1 |
C |
T |
8: 127,153,773 (GRCm39) |
A1560T |
probably damaging |
Het |
| Tcl1b1 |
T |
A |
12: 105,125,952 (GRCm39) |
|
probably benign |
Het |
| Tdrd5 |
T |
C |
1: 156,111,841 (GRCm39) |
E436G |
probably damaging |
Het |
| Trim31 |
T |
A |
17: 37,209,408 (GRCm39) |
C55S |
probably damaging |
Het |
| Tsr1 |
G |
T |
11: 74,794,745 (GRCm39) |
E467* |
probably null |
Het |
| Tulp4 |
T |
A |
17: 6,235,564 (GRCm39) |
D178E |
probably damaging |
Het |
| Vmn1r30 |
A |
G |
6: 58,411,995 (GRCm39) |
V279A |
possibly damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,285,575 (GRCm39) |
R132G |
probably benign |
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 |
|
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 |
|
|
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'- GCAGCCCCTGTTGTATTAACTG -3'
(R):5'- GGTTATTTTATAGACCCGAGTAATCAC -3'
Sequencing Primer
(F):5'- AACTGTTGTCTTAATTCGCCCAAG -3'
(R):5'- GGTCCATTCAGAATCGGAT -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation