Incidental Mutation 'R1622:Gabra4'
| ID |
174698 |
| 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 |
039659-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1622 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
71727092-71815651 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71729329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 484
(S484P)
|
| 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: S458P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000031121
Gene: ENSMUSG00000029211
AA Change: S458P
| 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: S484P
PolyPhen 2
Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000143675
Gene: ENSMUSG00000029211
AA Change: S484P
| 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 |
0.0779 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
98% (55/56) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldoart2 |
A |
G |
12: 55,612,696 (GRCm39) |
E207G |
probably benign |
Het |
| Arhgap19 |
T |
A |
19: 41,790,412 (GRCm39) |
S19C |
probably benign |
Het |
| Arhgef18 |
T |
A |
8: 3,491,272 (GRCm39) |
D374E |
possibly damaging |
Het |
| Atf2 |
A |
G |
2: 73,684,133 (GRCm39) |
|
probably null |
Het |
| Cadm1 |
A |
G |
9: 47,725,139 (GRCm39) |
N300S |
probably benign |
Het |
| Ccdc159 |
A |
T |
9: 21,840,666 (GRCm39) |
I78F |
possibly damaging |
Het |
| Cdh4 |
T |
C |
2: 179,530,885 (GRCm39) |
I589T |
possibly damaging |
Het |
| Clstn1 |
T |
C |
4: 149,713,864 (GRCm39) |
I182T |
probably damaging |
Het |
| Cnga3 |
T |
A |
1: 37,283,909 (GRCm39) |
|
probably benign |
Het |
| Cntln |
T |
A |
4: 84,981,418 (GRCm39) |
S865R |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,683,516 (GRCm39) |
G1552E |
unknown |
Het |
| Col6a4 |
A |
C |
9: 105,874,334 (GRCm39) |
S2218A |
probably benign |
Het |
| Ephb1 |
T |
C |
9: 101,878,910 (GRCm39) |
T527A |
probably benign |
Het |
| Fkbp15 |
T |
A |
4: 62,241,439 (GRCm39) |
I569F |
possibly damaging |
Het |
| Glce |
T |
C |
9: 61,977,843 (GRCm39) |
I14V |
possibly damaging |
Het |
| Gm4884 |
A |
T |
7: 40,692,265 (GRCm39) |
Q78L |
probably damaging |
Het |
| Gpn1 |
A |
G |
5: 31,660,748 (GRCm39) |
T180A |
possibly damaging |
Het |
| Gpr6 |
A |
T |
10: 40,947,288 (GRCm39) |
I98N |
probably damaging |
Het |
| Hcrtr2 |
T |
C |
9: 76,230,722 (GRCm39) |
N22S |
probably benign |
Het |
| Hfm1 |
C |
T |
5: 107,041,389 (GRCm39) |
V665I |
possibly damaging |
Het |
| Il4ra |
T |
A |
7: 125,169,225 (GRCm39) |
I159N |
possibly damaging |
Het |
| Irf8 |
G |
C |
8: 121,466,561 (GRCm39) |
C2S |
possibly damaging |
Het |
| Itih2 |
A |
T |
2: 10,106,890 (GRCm39) |
N701K |
probably benign |
Het |
| Lrrc4b |
GAGAAG |
GAG |
7: 44,111,654 (GRCm39) |
|
probably benign |
Het |
| Mmp10 |
T |
A |
9: 7,504,996 (GRCm39) |
Y263* |
probably null |
Het |
| Morc3 |
T |
A |
16: 93,671,694 (GRCm39) |
M835K |
probably benign |
Het |
| Msh3 |
A |
G |
13: 92,481,462 (GRCm39) |
|
probably null |
Het |
| Ncbp1 |
A |
G |
4: 46,171,963 (GRCm39) |
H777R |
possibly damaging |
Het |
| Nfatc1 |
A |
G |
18: 80,710,182 (GRCm39) |
M514T |
probably damaging |
Het |
| Nlrp3 |
T |
A |
11: 59,439,302 (GRCm39) |
I293N |
probably damaging |
Het |
| Pank2 |
A |
T |
2: 131,115,889 (GRCm39) |
E102D |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,754,505 (GRCm39) |
D175G |
probably benign |
Het |
| Pcdh9 |
T |
C |
14: 94,123,311 (GRCm39) |
D953G |
probably benign |
Het |
| Pibf1 |
G |
A |
14: 99,423,917 (GRCm39) |
V497I |
probably benign |
Het |
| Pkd1 |
G |
A |
17: 24,800,614 (GRCm39) |
M3085I |
probably benign |
Het |
| Prss58 |
A |
T |
6: 40,874,248 (GRCm39) |
C143S |
possibly damaging |
Het |
| Rassf8 |
A |
G |
6: 145,765,829 (GRCm39) |
|
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Spag7 |
T |
A |
11: 70,555,688 (GRCm39) |
D73V |
probably damaging |
Het |
| Sult3a1 |
A |
T |
10: 33,746,246 (GRCm39) |
M189L |
probably benign |
Het |
| Syt4 |
T |
C |
18: 31,577,069 (GRCm39) |
D95G |
probably damaging |
Het |
| Tbc1d8 |
A |
C |
1: 39,419,317 (GRCm39) |
S766A |
probably benign |
Het |
| Tmco5 |
A |
T |
2: 116,710,796 (GRCm39) |
M39L |
probably benign |
Het |
| Trcg1 |
A |
G |
9: 57,155,955 (GRCm39) |
N797S |
possibly damaging |
Het |
| Trim34a |
A |
T |
7: 103,910,545 (GRCm39) |
|
probably null |
Het |
| Ubr5 |
T |
C |
15: 38,009,357 (GRCm39) |
|
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,756,363 (GRCm39) |
N690S |
probably benign |
Het |
| Zfp445 |
A |
G |
9: 122,681,614 (GRCm39) |
Y776H |
possibly damaging |
Het |
| Zfp52 |
G |
A |
17: 21,781,833 (GRCm39) |
M560I |
probably benign |
Het |
| Zfp608 |
A |
G |
18: 55,121,366 (GRCm39) |
S74P |
probably benign |
Het |
| Zfp629 |
A |
G |
7: 127,211,012 (GRCm39) |
C266R |
probably damaging |
Het |
| Zscan2 |
A |
G |
7: 80,525,134 (GRCm39) |
K285R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCCAGTAGACCATGTTAAATGCTCC -3'
(R):5'- TGAGGTGGGAAATCACTCCAGCAAG -3'
Sequencing Primer
(F):5'- AAATGCTCCAAATGTGACTGG -3'
(R):5'- CTCCAGCAAGACCAGCG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation