Incidental Mutation 'R3424:Gabrr1'
| ID |
267841 |
| 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 |
040642-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R3424 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
33132556-33163606 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33158058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 227
(L227P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029947]
|
| AlphaFold |
P56475 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029947
AA Change: L227P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029947
Gene: ENSMUSG00000028280
AA Change: L227P
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030469F06Rik |
G |
T |
12: 31,234,632 (GRCm39) |
|
noncoding transcript |
Het |
| Atp8b3 |
T |
C |
10: 80,372,181 (GRCm39) |
E16G |
probably benign |
Het |
| BC016579 |
T |
A |
16: 45,449,846 (GRCm39) |
I191F |
probably damaging |
Het |
| Cdh23 |
T |
G |
10: 60,212,660 (GRCm39) |
I1584L |
possibly damaging |
Het |
| Cep250 |
G |
A |
2: 155,823,381 (GRCm39) |
D1011N |
probably benign |
Het |
| Coro2b |
A |
T |
9: 62,336,590 (GRCm39) |
|
probably null |
Het |
| Csf3r |
A |
G |
4: 125,937,549 (GRCm39) |
D811G |
probably damaging |
Het |
| Dst |
T |
G |
1: 34,237,586 (GRCm39) |
|
probably benign |
Het |
| Galnt10 |
T |
C |
11: 57,536,539 (GRCm39) |
V52A |
probably benign |
Het |
| Golga4 |
A |
C |
9: 118,363,715 (GRCm39) |
D229A |
probably benign |
Het |
| Heatr5b |
G |
A |
17: 79,075,833 (GRCm39) |
T1495I |
possibly damaging |
Het |
| Hoxd4 |
A |
G |
2: 74,557,657 (GRCm39) |
Y12C |
probably damaging |
Het |
| Hps1 |
A |
T |
19: 42,748,952 (GRCm39) |
M522K |
possibly damaging |
Het |
| Lrrc8e |
A |
T |
8: 4,284,611 (GRCm39) |
I279F |
probably damaging |
Het |
| Mettl24 |
C |
T |
10: 40,559,637 (GRCm39) |
Q96* |
probably null |
Het |
| Muc2 |
A |
G |
7: 141,279,595 (GRCm39) |
N193S |
probably damaging |
Het |
| Mysm1 |
A |
G |
4: 94,853,558 (GRCm39) |
L347P |
probably benign |
Het |
| Or10g9 |
T |
A |
9: 39,911,830 (GRCm39) |
E231V |
probably damaging |
Het |
| Oxtr |
G |
T |
6: 112,454,191 (GRCm39) |
H24Q |
probably benign |
Het |
| Paxip1 |
A |
G |
5: 27,980,671 (GRCm39) |
|
probably benign |
Het |
| Pclo |
C |
T |
5: 14,730,432 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
C |
A |
10: 52,004,512 (GRCm39) |
|
probably null |
Het |
| Slc18b1 |
T |
G |
10: 23,698,874 (GRCm39) |
M348R |
probably damaging |
Het |
| Slco4c1 |
A |
T |
1: 96,768,976 (GRCm39) |
S295R |
probably benign |
Het |
| Tmeff2 |
A |
G |
1: 51,018,776 (GRCm39) |
|
probably benign |
Het |
| Tspan31 |
T |
A |
10: 126,904,371 (GRCm39) |
Q141L |
probably benign |
Het |
| Virma |
G |
T |
4: 11,513,177 (GRCm39) |
E344* |
probably null |
Het |
| Zbtb17 |
G |
T |
4: 141,192,299 (GRCm39) |
G415C |
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 |
|
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 |
|
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'- CCTTTAAGCATCAGAGCCTTGC -3'
(R):5'- ATAGAGCCTGAACCCTCCAG -3'
Sequencing Primer
(F):5'- ACTGGGAAGACTTCGAATTGTC -3'
(R):5'- GCCAAGAGAACTCCTCCCTG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation