Incidental Mutation 'R0843:Gabrr1'
ID |
77245 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gabrr1
|
Ensembl Gene |
ENSMUSG00000028280 |
Gene Name |
gamma-aminobutyric acid type A receptor subunit rho 1 |
Synonyms |
GABA-C |
MMRRC Submission |
039022-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R0843 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
33132556-33163606 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 33161717 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 347
(I347N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029947
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029947]
|
AlphaFold |
P56475 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029947
AA Change: I347N
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000029947 Gene: ENSMUSG00000028280 AA Change: I347N
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 |
|
Meta Mutation Damage Score |
0.7078 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 92.6%
|
Validation Efficiency |
98% (40/41) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adrb2 |
T |
C |
18: 62,312,142 (GRCm39) |
R228G |
probably benign |
Het |
Arrdc3 |
T |
C |
13: 81,038,922 (GRCm39) |
|
probably benign |
Het |
Cacna1d |
T |
C |
14: 29,846,828 (GRCm39) |
Y526C |
probably damaging |
Het |
Cenpn |
T |
C |
8: 117,660,045 (GRCm39) |
V125A |
probably benign |
Het |
Cyfip1 |
A |
T |
7: 55,572,568 (GRCm39) |
H963L |
probably benign |
Het |
Dnah8 |
T |
C |
17: 31,032,069 (GRCm39) |
Y4130H |
probably damaging |
Het |
Dnmt3a |
T |
C |
12: 3,922,886 (GRCm39) |
|
probably benign |
Het |
Dync1h1 |
C |
T |
12: 110,631,647 (GRCm39) |
T4448M |
possibly damaging |
Het |
Efr3a |
T |
A |
15: 65,709,272 (GRCm39) |
|
probably benign |
Het |
Fgf11 |
T |
G |
11: 69,689,602 (GRCm39) |
|
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Hspa1b |
T |
A |
17: 35,176,524 (GRCm39) |
N487I |
possibly damaging |
Het |
Ifi207 |
A |
T |
1: 173,555,143 (GRCm39) |
N853K |
probably damaging |
Het |
Iqgap3 |
A |
G |
3: 88,015,738 (GRCm39) |
D40G |
possibly damaging |
Het |
Iyd |
T |
C |
10: 3,495,663 (GRCm39) |
V107A |
possibly damaging |
Het |
Kctd3 |
A |
T |
1: 188,729,170 (GRCm39) |
L129* |
probably null |
Het |
Myo7b |
A |
G |
18: 32,107,137 (GRCm39) |
F1286S |
possibly damaging |
Het |
Or4a47 |
C |
T |
2: 89,665,960 (GRCm39) |
V110I |
probably benign |
Het |
Or52s1b |
T |
A |
7: 102,822,326 (GRCm39) |
T173S |
possibly damaging |
Het |
Or8c15 |
T |
A |
9: 38,120,579 (GRCm39) |
F77I |
possibly damaging |
Het |
Pcsk5 |
T |
A |
19: 17,632,182 (GRCm39) |
Y328F |
probably damaging |
Het |
Plxnb1 |
T |
C |
9: 108,942,769 (GRCm39) |
L1810P |
probably benign |
Het |
Polr2h |
T |
A |
16: 20,537,649 (GRCm39) |
V50E |
probably damaging |
Het |
Ppm1g |
T |
C |
5: 31,364,895 (GRCm39) |
|
probably benign |
Het |
Ptpru |
T |
A |
4: 131,525,259 (GRCm39) |
R741S |
probably benign |
Het |
Pyroxd2 |
T |
C |
19: 42,735,986 (GRCm39) |
E64G |
probably damaging |
Het |
Rad54b |
T |
C |
4: 11,609,471 (GRCm39) |
|
probably null |
Het |
Rangap1 |
A |
T |
15: 81,594,703 (GRCm39) |
D375E |
probably benign |
Het |
Rhbdf1 |
G |
A |
11: 32,165,053 (GRCm39) |
R107C |
probably damaging |
Het |
Scaf11 |
T |
C |
15: 96,329,706 (GRCm39) |
E140G |
probably damaging |
Het |
Slitrk6 |
G |
T |
14: 110,987,530 (GRCm39) |
H726N |
probably benign |
Het |
Spry2 |
A |
G |
14: 106,130,524 (GRCm39) |
C221R |
probably damaging |
Het |
Stx2 |
C |
T |
5: 129,076,612 (GRCm39) |
V24M |
probably damaging |
Het |
Tent5b |
T |
C |
4: 133,213,842 (GRCm39) |
S238P |
probably damaging |
Het |
Tll2 |
T |
A |
19: 41,116,902 (GRCm39) |
|
probably null |
Het |
Ttyh3 |
C |
A |
5: 140,612,201 (GRCm39) |
|
probably null |
Het |
Vmn2r116 |
T |
C |
17: 23,619,934 (GRCm39) |
V556A |
probably benign |
Het |
Xpo5 |
T |
C |
17: 46,533,576 (GRCm39) |
|
probably benign |
Het |
Zc3h3 |
A |
G |
15: 75,709,328 (GRCm39) |
S514P |
probably benign |
Het |
Zfp277 |
A |
C |
12: 40,370,599 (GRCm39) |
|
probably null |
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 |
IGL02834:Gabrr1
|
APN |
4 |
33,151,426 (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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTGCTAAAATGTCTGGAGCTTTCTGC -3'
(R):5'- GCATACATCATTCCATCCGCTCATGAC -3'
Sequencing Primer
(F):5'- CTGTATGTCAGGTGGACAGAG -3'
(R):5'- GGGTATCACAGCCTCATTTTACAG -3'
|
Posted On |
2013-10-16 |