Incidental Mutation 'R5407:Gabrb1'
ID |
426322 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gabrb1
|
Ensembl Gene |
ENSMUSG00000029212 |
Gene Name |
gamma-aminobutyric acid type A receptor subunit beta 1 |
Synonyms |
Gabrb-1, B230208N19Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5407 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
71815456-72306380 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72279364 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 303
(V303A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031122
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031122]
|
AlphaFold |
P50571 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031122
AA Change: V303A
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000031122 Gene: ENSMUSG00000029212 AA Change: V303A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:Neur_chan_LBD
|
37 |
243 |
7.1e-52 |
PFAM |
Pfam:Neur_chan_memb
|
250 |
469 |
2.4e-48 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice heterozygous for an ENU or spontaneous mutation exhibit alcohol preference with increased tonic inhibition, female infertility and hypothalamic pituitary axis dysfunction. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm4 |
T |
C |
4: 144,396,895 (GRCm39) |
K279R |
probably benign |
Het |
Aldoart2 |
A |
C |
12: 55,612,981 (GRCm39) |
Y302S |
probably damaging |
Het |
Arpp21 |
G |
T |
9: 111,945,821 (GRCm39) |
|
probably benign |
Het |
Camk1g |
C |
T |
1: 193,029,680 (GRCm39) |
|
probably null |
Het |
Cand2 |
G |
A |
6: 115,762,161 (GRCm39) |
V196I |
possibly damaging |
Het |
Cdc25b |
T |
A |
2: 131,035,567 (GRCm39) |
L381Q |
probably damaging |
Het |
Col17a1 |
C |
T |
19: 47,654,946 (GRCm39) |
G610E |
probably damaging |
Het |
Col19a1 |
C |
T |
1: 24,342,575 (GRCm39) |
E797K |
probably damaging |
Het |
Col3a1 |
A |
T |
1: 45,385,212 (GRCm39) |
I110L |
probably benign |
Het |
Col5a2 |
T |
A |
1: 45,445,440 (GRCm39) |
D506V |
possibly damaging |
Het |
Crp |
A |
T |
1: 172,525,676 (GRCm39) |
|
probably null |
Het |
Esco1 |
G |
T |
18: 10,574,886 (GRCm39) |
H729N |
probably damaging |
Het |
Evx2 |
A |
G |
2: 74,488,170 (GRCm39) |
S217P |
probably damaging |
Het |
Gcnt3 |
A |
G |
9: 69,941,471 (GRCm39) |
Y366H |
probably benign |
Het |
Gmpr2 |
A |
G |
14: 55,915,733 (GRCm39) |
T304A |
possibly damaging |
Het |
Golga3 |
C |
T |
5: 110,349,856 (GRCm39) |
Q656* |
probably null |
Het |
Gramd1b |
T |
A |
9: 40,366,951 (GRCm39) |
M6L |
probably damaging |
Het |
Kif17 |
T |
C |
4: 138,025,532 (GRCm39) |
Y945H |
probably damaging |
Het |
Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
Lrrk1 |
T |
A |
7: 65,920,545 (GRCm39) |
Q1486L |
probably benign |
Het |
Mboat7 |
G |
T |
7: 3,694,380 (GRCm39) |
H72N |
probably damaging |
Het |
Med12l |
G |
A |
3: 59,165,622 (GRCm39) |
V1447M |
probably damaging |
Het |
Mrpl3 |
T |
C |
9: 104,954,294 (GRCm39) |
F333L |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,702,796 (GRCm39) |
T246A |
probably benign |
Het |
Neil3 |
A |
T |
8: 54,054,054 (GRCm39) |
V325E |
probably benign |
Het |
Nlrp4g |
A |
T |
9: 124,349,930 (GRCm38) |
|
noncoding transcript |
Het |
Onecut1 |
C |
T |
9: 74,796,738 (GRCm39) |
S419F |
probably damaging |
Het |
Or10n1 |
A |
T |
9: 39,524,991 (GRCm39) |
I43F |
probably damaging |
Het |
Ptp4a1 |
A |
T |
1: 30,984,044 (GRCm39) |
V58E |
probably benign |
Het |
Radil |
C |
T |
5: 142,493,970 (GRCm39) |
R49H |
probably damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,723,582 (GRCm39) |
E1648G |
possibly damaging |
Het |
Rnft2 |
C |
T |
5: 118,380,567 (GRCm39) |
M13I |
probably damaging |
Het |
Satb2 |
A |
G |
1: 56,987,309 (GRCm39) |
L92P |
probably damaging |
Het |
Scn4a |
T |
C |
11: 106,211,715 (GRCm39) |
Y1434C |
probably damaging |
Het |
Setx |
T |
A |
2: 29,035,486 (GRCm39) |
M657K |
probably benign |
Het |
Shd |
A |
G |
17: 56,280,936 (GRCm39) |
E204G |
probably damaging |
Het |
Shh |
T |
A |
5: 28,671,578 (GRCm39) |
R62* |
probably null |
Het |
Slc9a4 |
A |
G |
1: 40,646,954 (GRCm39) |
T483A |
probably benign |
Het |
Tbc1d7 |
A |
C |
13: 43,308,178 (GRCm39) |
S96A |
probably benign |
Het |
Tfcp2 |
T |
C |
15: 100,425,755 (GRCm39) |
|
probably null |
Het |
Tlk2 |
T |
A |
11: 105,131,201 (GRCm39) |
S182R |
probably damaging |
Het |
Tppp2 |
A |
G |
14: 52,156,955 (GRCm39) |
|
probably null |
Het |
Trim65 |
T |
C |
11: 116,016,906 (GRCm39) |
T519A |
probably benign |
Het |
Trio |
T |
C |
15: 27,844,892 (GRCm39) |
|
probably null |
Het |
Usf3 |
G |
A |
16: 44,037,769 (GRCm39) |
V750I |
probably benign |
Het |
Utrn |
T |
A |
10: 12,556,369 (GRCm39) |
K1480N |
probably damaging |
Het |
Vmn1r58 |
T |
A |
7: 5,413,872 (GRCm39) |
R119S |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,341,313 (GRCm39) |
I1185V |
probably benign |
Het |
Zc3h7b |
A |
G |
15: 81,670,092 (GRCm39) |
H654R |
probably damaging |
Het |
Zfyve16 |
G |
T |
13: 92,636,792 (GRCm39) |
A1306E |
probably damaging |
Het |
|
Other mutations in Gabrb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00770:Gabrb1
|
APN |
5 |
72,265,789 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00774:Gabrb1
|
APN |
5 |
72,265,789 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01534:Gabrb1
|
APN |
5 |
72,026,772 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02170:Gabrb1
|
APN |
5 |
72,294,073 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02326:Gabrb1
|
APN |
5 |
71,858,190 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03278:Gabrb1
|
APN |
5 |
72,026,939 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03345:Gabrb1
|
APN |
5 |
72,293,908 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL03050:Gabrb1
|
UTSW |
5 |
72,279,497 (GRCm39) |
missense |
probably benign |
0.03 |
PIT4445001:Gabrb1
|
UTSW |
5 |
72,266,125 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4515001:Gabrb1
|
UTSW |
5 |
71,858,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R0109:Gabrb1
|
UTSW |
5 |
72,279,289 (GRCm39) |
splice site |
probably benign |
|
R0386:Gabrb1
|
UTSW |
5 |
72,266,150 (GRCm39) |
missense |
probably damaging |
0.99 |
R1512:Gabrb1
|
UTSW |
5 |
72,266,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R1512:Gabrb1
|
UTSW |
5 |
72,266,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R1717:Gabrb1
|
UTSW |
5 |
72,265,694 (GRCm39) |
splice site |
probably null |
|
R1832:Gabrb1
|
UTSW |
5 |
72,279,281 (GRCm39) |
splice site |
probably null |
|
R1961:Gabrb1
|
UTSW |
5 |
71,857,679 (GRCm39) |
missense |
probably benign |
0.28 |
R2363:Gabrb1
|
UTSW |
5 |
72,026,916 (GRCm39) |
nonsense |
probably null |
|
R4686:Gabrb1
|
UTSW |
5 |
71,857,365 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4840:Gabrb1
|
UTSW |
5 |
71,858,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R4916:Gabrb1
|
UTSW |
5 |
72,026,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R4941:Gabrb1
|
UTSW |
5 |
72,294,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R5250:Gabrb1
|
UTSW |
5 |
72,026,922 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5270:Gabrb1
|
UTSW |
5 |
72,265,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R5364:Gabrb1
|
UTSW |
5 |
72,294,105 (GRCm39) |
missense |
probably benign |
0.33 |
R5621:Gabrb1
|
UTSW |
5 |
72,266,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R5790:Gabrb1
|
UTSW |
5 |
72,293,827 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6236:Gabrb1
|
UTSW |
5 |
72,265,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R6336:Gabrb1
|
UTSW |
5 |
72,187,241 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7411:Gabrb1
|
UTSW |
5 |
72,279,538 (GRCm39) |
critical splice donor site |
probably null |
|
R8375:Gabrb1
|
UTSW |
5 |
72,187,172 (GRCm39) |
missense |
probably damaging |
0.98 |
R9161:Gabrb1
|
UTSW |
5 |
72,187,199 (GRCm39) |
missense |
probably damaging |
0.98 |
R9474:Gabrb1
|
UTSW |
5 |
72,265,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R9621:Gabrb1
|
UTSW |
5 |
72,279,363 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTCCTGCCATCAATTGTACTG -3'
(R):5'- GACGGGATTAGCAATATACAATGCC -3'
Sequencing Primer
(F):5'- CATCAATTGTACTGCACTGTGGCAG -3'
(R):5'- ACAATGCCTTACTTGGACTTTG -3'
|
Posted On |
2016-09-01 |