Incidental Mutation 'R3884:Gabra4'
ID |
310583 |
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 |
040797-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3884 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
71727092-71815651 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 71814600 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 40
(D40G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142466
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031121]
[ENSMUST00000197994]
[ENSMUST00000198138]
[ENSMUST00000199357]
[ENSMUST00000199967]
|
AlphaFold |
Q9D6F4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031121
AA Change: D40G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000031121 Gene: ENSMUSG00000029211 AA Change: D40G
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 |
silent
Transcript: ENSMUST00000197994
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198138
AA Change: D40G
PolyPhen 2
Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000142466 Gene: ENSMUSG00000029211 AA Change: D40G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
SCOP:d1i9ba_
|
53 |
69 |
3e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199150
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199357
AA Change: D40G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000143675 Gene: ENSMUSG00000029211 AA Change: D40G
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199967
|
SMART Domains |
Protein: ENSMUSP00000143682 Gene: ENSMUSG00000029212
Domain | Start | End | E-Value | Type |
Pfam:Neur_chan_LBD
|
4 |
210 |
4.8e-51 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy6 |
G |
A |
15: 98,495,055 (GRCm39) |
S719F |
probably benign |
Het |
Als2 |
A |
G |
1: 59,224,727 (GRCm39) |
V998A |
probably damaging |
Het |
Ankmy1 |
T |
G |
1: 92,813,874 (GRCm39) |
E435A |
probably damaging |
Het |
Ankrd52 |
A |
G |
10: 128,224,824 (GRCm39) |
E820G |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atp6v0d2 |
T |
A |
4: 19,910,677 (GRCm39) |
D71V |
probably damaging |
Het |
C3 |
T |
C |
17: 57,524,173 (GRCm39) |
|
probably null |
Het |
Cnot7 |
A |
T |
8: 40,963,171 (GRCm39) |
M1K |
probably null |
Het |
Cntn2 |
A |
G |
1: 132,456,677 (GRCm39) |
V123A |
probably damaging |
Het |
Depdc5 |
G |
A |
5: 33,101,421 (GRCm39) |
E904K |
probably damaging |
Het |
Dip2c |
G |
T |
13: 9,601,894 (GRCm39) |
L284F |
probably damaging |
Het |
Epb41l3 |
C |
T |
17: 69,581,111 (GRCm39) |
R552* |
probably null |
Het |
Gm9925 |
T |
C |
18: 74,198,399 (GRCm39) |
|
probably benign |
Het |
Igf2r |
T |
A |
17: 12,928,355 (GRCm39) |
Q996L |
probably benign |
Het |
Klk1b16 |
T |
C |
7: 43,788,887 (GRCm39) |
V40A |
possibly damaging |
Het |
Lin9 |
G |
T |
1: 180,515,630 (GRCm39) |
G427* |
probably null |
Het |
Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
Lyg2 |
C |
G |
1: 37,949,150 (GRCm39) |
A71P |
probably damaging |
Het |
Mycbp2 |
A |
C |
14: 103,532,686 (GRCm39) |
L390V |
probably damaging |
Het |
Myl3 |
A |
G |
9: 110,597,027 (GRCm39) |
H129R |
probably damaging |
Het |
Naa16 |
T |
C |
14: 79,580,702 (GRCm39) |
K604R |
probably damaging |
Het |
Nedd4 |
C |
T |
9: 72,632,359 (GRCm39) |
P398S |
probably benign |
Het |
Neurl1a |
T |
C |
19: 47,241,885 (GRCm39) |
V309A |
probably benign |
Het |
Or10a2 |
A |
T |
7: 106,673,110 (GRCm39) |
Q25L |
possibly damaging |
Het |
Or6c210 |
T |
C |
10: 129,496,407 (GRCm39) |
V244A |
probably damaging |
Het |
Pacs1 |
T |
C |
19: 5,205,787 (GRCm39) |
Y301C |
probably damaging |
Het |
Parl |
A |
T |
16: 20,101,762 (GRCm39) |
M90K |
probably damaging |
Het |
Plxnc1 |
A |
T |
10: 94,746,549 (GRCm39) |
|
probably null |
Het |
Prkd2 |
C |
A |
7: 16,587,180 (GRCm39) |
S375R |
probably benign |
Het |
Prss44 |
T |
C |
9: 110,643,764 (GRCm39) |
I136T |
possibly damaging |
Het |
Rock1 |
G |
A |
18: 10,122,768 (GRCm39) |
T351I |
probably damaging |
Het |
Selenon |
T |
C |
4: 134,267,081 (GRCm39) |
N507S |
possibly damaging |
Het |
Slc38a7 |
C |
T |
8: 96,572,809 (GRCm39) |
G141R |
probably damaging |
Het |
Trpm4 |
C |
T |
7: 44,971,422 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,560,705 (GRCm39) |
N27486I |
probably damaging |
Het |
Xylb |
T |
C |
9: 119,209,753 (GRCm39) |
M346T |
probably damaging |
Het |
Zbtb17 |
T |
C |
4: 141,191,886 (GRCm39) |
F306L |
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 |
R2698:Gabra4
|
UTSW |
5 |
71,729,421 (GRCm39) |
missense |
probably benign |
0.03 |
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'- GCTCGAGAGAATGACTGGTTTTC -3'
(R):5'- GCTGCCTAAAGGGTACTTGC -3'
Sequencing Primer
(F):5'- TCATTTTTGCACGTGAGGC -3'
(R):5'- CCTAAAGGGTACTTGCAGTCTG -3'
|
Posted On |
2015-04-17 |