Incidental Mutation 'IGL02834:Gabrr1'
ID |
361569 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gabrr1
|
Ensembl Gene |
ENSMUSG00000028280 |
Gene Name |
gamma-aminobutyric acid type A receptor subunit rho 1 |
Synonyms |
GABA-C |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
IGL02834
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
33132556-33163606 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 33151426 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 114
(E114G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029947
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029947]
|
AlphaFold |
P56475 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029947
AA Change: E114G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029947 Gene: ENSMUSG00000028280 AA Change: E114G
Domain | Start | End | E-Value | Type |
Pfam:Neur_chan_LBD
|
69 |
276 |
4.8e-53 |
PFAM |
Pfam:Neur_chan_memb
|
283 |
402 |
3.1e-33 |
PFAM |
transmembrane domain
|
453 |
472 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. GABRR1 is a member of the rho subunit family. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] PHENOTYPE: Mice homozygous for a knock-out allele display altered visual processing in the retina. Mice homozygous for a different knock-out allele exhibit alterations of mechanical pain sensitivity, GABA-inhibited spinal cord responses, and olfactory function. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap10 |
A |
T |
8: 78,091,729 (GRCm39) |
L430Q |
probably damaging |
Het |
Cc2d2a |
C |
T |
5: 43,871,863 (GRCm39) |
R900* |
probably null |
Het |
Cd14 |
A |
G |
18: 36,858,556 (GRCm39) |
Y300H |
probably benign |
Het |
Dgcr8 |
T |
A |
16: 18,090,623 (GRCm39) |
T584S |
probably benign |
Het |
Epb41l5 |
C |
T |
1: 119,551,685 (GRCm39) |
G100D |
probably benign |
Het |
Fat4 |
G |
A |
3: 39,010,893 (GRCm39) |
G1998R |
probably damaging |
Het |
Fndc3b |
A |
T |
3: 27,562,652 (GRCm39) |
L279H |
probably damaging |
Het |
Gpr141b |
A |
T |
13: 19,914,045 (GRCm39) |
|
noncoding transcript |
Het |
Hrh2 |
A |
G |
13: 54,369,019 (GRCm39) |
R332G |
probably benign |
Het |
Kif5a |
T |
C |
10: 127,081,625 (GRCm39) |
I180V |
probably benign |
Het |
Lyg2 |
T |
A |
1: 37,949,048 (GRCm39) |
R105W |
probably damaging |
Het |
Myc |
A |
G |
15: 61,859,515 (GRCm39) |
I64V |
probably damaging |
Het |
Nrcam |
G |
A |
12: 44,587,858 (GRCm39) |
|
probably null |
Het |
Ogdhl |
A |
G |
14: 32,047,903 (GRCm39) |
Y51C |
probably damaging |
Het |
Or13p5 |
C |
T |
4: 118,591,803 (GRCm39) |
L26F |
probably benign |
Het |
Or51m1 |
T |
A |
7: 103,578,601 (GRCm39) |
C190* |
probably null |
Het |
Pdlim3 |
A |
G |
8: 46,370,569 (GRCm39) |
R290G |
probably benign |
Het |
Ppm1l |
G |
A |
3: 69,456,676 (GRCm39) |
A198T |
probably damaging |
Het |
Prkd2 |
A |
G |
7: 16,579,859 (GRCm39) |
D119G |
probably damaging |
Het |
Rapgef3 |
A |
T |
15: 97,646,146 (GRCm39) |
I820N |
probably damaging |
Het |
Scnn1b |
A |
G |
7: 121,511,285 (GRCm39) |
Y324C |
probably damaging |
Het |
Smc5 |
G |
A |
19: 23,234,968 (GRCm39) |
R289C |
probably benign |
Het |
Vmn2r51 |
T |
A |
7: 9,832,063 (GRCm39) |
R508* |
probably null |
Het |
Vps13c |
A |
T |
9: 67,845,137 (GRCm39) |
I2074L |
probably benign |
Het |
Wdr64 |
T |
C |
1: 175,633,415 (GRCm39) |
|
probably benign |
Het |
Ydjc |
C |
T |
16: 16,965,153 (GRCm39) |
P74L |
probably benign |
Het |
|
Other mutations in Gabrr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01617:Gabrr1
|
APN |
4 |
33,162,634 (GRCm39) |
missense |
probably benign |
|
IGL02052:Gabrr1
|
APN |
4 |
33,152,567 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02169:Gabrr1
|
APN |
4 |
33,160,261 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4498001:Gabrr1
|
UTSW |
4 |
33,160,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R0135:Gabrr1
|
UTSW |
4 |
33,160,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R0606:Gabrr1
|
UTSW |
4 |
33,132,696 (GRCm39) |
missense |
probably benign |
0.30 |
R0739:Gabrr1
|
UTSW |
4 |
33,162,781 (GRCm39) |
missense |
probably benign |
0.08 |
R0843:Gabrr1
|
UTSW |
4 |
33,161,717 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1182:Gabrr1
|
UTSW |
4 |
33,132,680 (GRCm39) |
missense |
probably benign |
|
R1628:Gabrr1
|
UTSW |
4 |
33,152,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R1724:Gabrr1
|
UTSW |
4 |
33,161,651 (GRCm39) |
missense |
probably damaging |
0.98 |
R2300:Gabrr1
|
UTSW |
4 |
33,152,449 (GRCm39) |
missense |
probably benign |
0.01 |
R2405:Gabrr1
|
UTSW |
4 |
33,157,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R3424:Gabrr1
|
UTSW |
4 |
33,158,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R3500:Gabrr1
|
UTSW |
4 |
33,158,184 (GRCm39) |
splice site |
probably benign |
|
R4575:Gabrr1
|
UTSW |
4 |
33,158,175 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4923:Gabrr1
|
UTSW |
4 |
33,162,820 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5686:Gabrr1
|
UTSW |
4 |
33,161,684 (GRCm39) |
missense |
probably damaging |
0.98 |
R5941:Gabrr1
|
UTSW |
4 |
33,162,676 (GRCm39) |
missense |
probably benign |
0.01 |
R6122:Gabrr1
|
UTSW |
4 |
33,161,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R6217:Gabrr1
|
UTSW |
4 |
33,149,026 (GRCm39) |
splice site |
probably null |
|
R6232:Gabrr1
|
UTSW |
4 |
33,161,632 (GRCm39) |
missense |
probably benign |
0.41 |
R6489:Gabrr1
|
UTSW |
4 |
33,162,855 (GRCm39) |
missense |
probably benign |
0.02 |
R6793:Gabrr1
|
UTSW |
4 |
33,162,712 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6996:Gabrr1
|
UTSW |
4 |
33,158,157 (GRCm39) |
missense |
probably damaging |
0.96 |
R7396:Gabrr1
|
UTSW |
4 |
33,160,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R7465:Gabrr1
|
UTSW |
4 |
33,146,970 (GRCm39) |
missense |
probably benign |
|
R7597:Gabrr1
|
UTSW |
4 |
33,148,964 (GRCm39) |
missense |
probably benign |
0.17 |
R8170:Gabrr1
|
UTSW |
4 |
33,162,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R8418:Gabrr1
|
UTSW |
4 |
33,162,615 (GRCm39) |
nonsense |
probably null |
|
R8795:Gabrr1
|
UTSW |
4 |
33,161,756 (GRCm39) |
missense |
probably damaging |
0.98 |
R8933:Gabrr1
|
UTSW |
4 |
33,146,972 (GRCm39) |
missense |
probably benign |
|
R8966:Gabrr1
|
UTSW |
4 |
33,152,411 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Posted On |
2015-12-18 |