Incidental Mutation 'R1724:Gabrr1'
| ID |
191662 |
| 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 |
039756-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R1724 (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 33161651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 325
(M325K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029947]
|
| AlphaFold |
P56475 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029947
AA Change: M325K
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029947
Gene: ENSMUSG00000028280
AA Change: M325K
| 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 |
0.9501 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.0%
|
| Validation Efficiency |
98% (50/51) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
T |
C |
2: 26,881,306 (GRCm39) |
V761A |
probably benign |
Het |
| Arap1 |
G |
T |
7: 101,049,733 (GRCm39) |
A1032S |
possibly damaging |
Het |
| Atg4d |
C |
T |
9: 21,179,741 (GRCm39) |
H230Y |
probably damaging |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Bcdin3d |
T |
A |
15: 99,368,561 (GRCm39) |
K213* |
probably null |
Het |
| Cep295nl |
T |
A |
11: 118,223,854 (GRCm39) |
E330V |
probably benign |
Het |
| Col10a1 |
A |
G |
10: 34,271,714 (GRCm39) |
Y562C |
probably damaging |
Het |
| Col9a2 |
G |
A |
4: 120,911,099 (GRCm39) |
R578Q |
probably damaging |
Het |
| Creld1 |
A |
G |
6: 113,461,535 (GRCm39) |
D85G |
possibly damaging |
Het |
| Cth |
A |
T |
3: 157,619,364 (GRCm39) |
V153D |
probably damaging |
Het |
| Dazap2 |
T |
A |
15: 100,515,884 (GRCm39) |
Y71N |
probably damaging |
Het |
| Ddah1 |
A |
C |
3: 145,597,261 (GRCm39) |
D269A |
probably damaging |
Het |
| Dhx9 |
A |
C |
1: 153,334,234 (GRCm39) |
D975E |
probably benign |
Het |
| Erich3 |
T |
A |
3: 154,467,964 (GRCm39) |
D805E |
possibly damaging |
Het |
| Fam83f |
T |
G |
15: 80,576,468 (GRCm39) |
V373G |
possibly damaging |
Het |
| Gabpb2 |
T |
C |
3: 95,113,826 (GRCm39) |
D19G |
probably damaging |
Het |
| Galntl5 |
T |
G |
5: 25,425,120 (GRCm39) |
N379K |
possibly damaging |
Het |
| Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
| Gm42791 |
C |
A |
5: 148,896,311 (GRCm39) |
|
probably benign |
Het |
| Gm5356 |
G |
A |
8: 89,913,684 (GRCm39) |
|
noncoding transcript |
Het |
| Kifap3 |
C |
T |
1: 163,610,666 (GRCm39) |
R49* |
probably null |
Het |
| Kmt2c |
C |
T |
5: 25,520,003 (GRCm39) |
G2036R |
probably damaging |
Het |
| Lce1l |
A |
T |
3: 92,757,726 (GRCm39) |
V44E |
unknown |
Het |
| Lmbr1 |
T |
A |
5: 29,566,081 (GRCm39) |
E48D |
probably benign |
Het |
| Nes |
C |
A |
3: 87,884,748 (GRCm39) |
N958K |
probably benign |
Het |
| Nwd1 |
A |
C |
8: 73,438,248 (GRCm39) |
H1432P |
probably damaging |
Het |
| Or2d2b |
G |
A |
7: 106,705,409 (GRCm39) |
H220Y |
probably benign |
Het |
| Or52h9 |
T |
C |
7: 104,202,435 (GRCm39) |
F103S |
probably damaging |
Het |
| Osgepl1 |
A |
G |
1: 53,357,062 (GRCm39) |
T75A |
probably benign |
Het |
| Perm1 |
T |
C |
4: 156,302,529 (GRCm39) |
S358P |
possibly damaging |
Het |
| Pramel14 |
C |
T |
4: 143,720,002 (GRCm39) |
G121D |
probably benign |
Het |
| Ptk2 |
A |
G |
15: 73,114,255 (GRCm39) |
V701A |
possibly damaging |
Het |
| Sdc4 |
G |
T |
2: 164,273,206 (GRCm39) |
Q35K |
probably benign |
Het |
| Secisbp2 |
A |
G |
13: 51,824,882 (GRCm39) |
S377G |
probably benign |
Het |
| Spag16 |
G |
C |
1: 70,532,941 (GRCm39) |
G540A |
probably damaging |
Het |
| Sun1 |
T |
A |
5: 139,221,480 (GRCm39) |
D517E |
probably benign |
Het |
| Taf3 |
A |
G |
2: 9,957,177 (GRCm39) |
V177A |
probably benign |
Het |
| Thbs2 |
A |
G |
17: 14,906,162 (GRCm39) |
L246P |
possibly damaging |
Het |
| Tle7 |
C |
A |
8: 110,836,795 (GRCm39) |
T227N |
probably damaging |
Het |
| Trpm1 |
G |
T |
7: 63,885,569 (GRCm39) |
G862* |
probably null |
Het |
| Trpm8 |
A |
T |
1: 88,278,578 (GRCm39) |
T584S |
possibly damaging |
Het |
| Ythdc2 |
T |
C |
18: 44,961,757 (GRCm39) |
S2P |
probably benign |
Het |
| Zc2hc1c |
G |
T |
12: 85,336,586 (GRCm39) |
R81L |
probably benign |
Het |
| Zfp292 |
C |
A |
4: 34,811,237 (GRCm39) |
L602F |
probably damaging |
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 |
|
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 |
|
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'- TACTCAAGGTCCTCCTTCTGGACG -3'
(R):5'- GGTAAAGTCACCTTCTCCCGAAGC -3'
Sequencing Primer
(F):5'- CCATGTGCTAAAATGTCTGGAGC -3'
(R):5'- AAGCTTCCGTTCCTTCCG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation