Incidental Mutation 'R6793:Gabrr1'
| ID |
532683 |
| 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 |
044906-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R6793 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
33132556-33163606 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 33162712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 426
(V426G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029947]
|
| AlphaFold |
P56475 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029947
AA Change: V426G
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029947
Gene: ENSMUSG00000028280
AA Change: V426G
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
A |
T |
9: 124,058,052 (GRCm39) |
N19K |
possibly damaging |
Het |
| A2ml1 |
G |
A |
6: 128,523,292 (GRCm39) |
Q1215* |
probably null |
Het |
| Abraxas2 |
T |
C |
7: 132,476,563 (GRCm39) |
I98T |
probably damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,413,371 (GRCm39) |
T1181I |
probably damaging |
Het |
| Bsn |
T |
A |
9: 107,991,814 (GRCm39) |
K1313* |
probably null |
Het |
| Chst4 |
A |
T |
8: 110,756,699 (GRCm39) |
V388D |
probably damaging |
Het |
| Ckap5 |
T |
G |
2: 91,399,054 (GRCm39) |
W613G |
probably damaging |
Het |
| Clock |
GACTCACT |
GACT |
5: 76,384,967 (GRCm39) |
|
probably null |
Het |
| Enpp1 |
T |
C |
10: 24,531,723 (GRCm39) |
D520G |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,593,818 (GRCm39) |
N90S |
probably benign |
Het |
| Esp36 |
A |
T |
17: 38,728,005 (GRCm39) |
M92K |
unknown |
Het |
| Fam135a |
A |
G |
1: 24,107,006 (GRCm39) |
V44A |
possibly damaging |
Het |
| Fndc8 |
T |
C |
11: 82,788,412 (GRCm39) |
S81P |
probably damaging |
Het |
| Fsip2 |
T |
G |
2: 82,819,838 (GRCm39) |
N5190K |
probably benign |
Het |
| Igkv6-15 |
T |
A |
6: 70,383,976 (GRCm39) |
M1L |
probably benign |
Het |
| Lrrc36 |
A |
G |
8: 106,185,065 (GRCm39) |
E614G |
probably damaging |
Het |
| Man1a2 |
A |
T |
3: 100,539,913 (GRCm39) |
I176K |
possibly damaging |
Het |
| Mapk4 |
T |
A |
18: 74,063,539 (GRCm39) |
N561I |
probably damaging |
Het |
| Med15 |
A |
T |
16: 17,470,567 (GRCm39) |
|
probably benign |
Het |
| Mfsd2a |
A |
G |
4: 122,844,498 (GRCm39) |
V258A |
probably benign |
Het |
| Micu3 |
G |
A |
8: 40,833,736 (GRCm39) |
V457I |
probably damaging |
Het |
| Mov10l1 |
T |
A |
15: 88,880,387 (GRCm39) |
V291E |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Ncbp1 |
T |
C |
4: 46,157,827 (GRCm39) |
I355T |
probably damaging |
Het |
| Or51s1 |
A |
G |
7: 102,558,935 (GRCm39) |
V37A |
probably benign |
Het |
| Or52ad1 |
T |
C |
7: 102,995,473 (GRCm39) |
T221A |
probably benign |
Het |
| Otub2 |
A |
G |
12: 103,355,278 (GRCm39) |
|
probably benign |
Het |
| Pcdh15 |
T |
C |
10: 74,466,971 (GRCm39) |
S1666P |
probably damaging |
Het |
| Pcdha12 |
T |
A |
18: 37,155,234 (GRCm39) |
V651E |
probably damaging |
Het |
| Pomt1 |
T |
C |
2: 32,132,961 (GRCm39) |
F186L |
probably damaging |
Het |
| Prl3d3 |
G |
A |
13: 27,345,044 (GRCm39) |
A140T |
probably benign |
Het |
| Ptprn |
G |
A |
1: 75,234,786 (GRCm39) |
T267I |
probably benign |
Het |
| Qrfprl |
C |
T |
6: 65,358,405 (GRCm39) |
A43V |
probably benign |
Het |
| Rhbdd2 |
T |
A |
5: 135,665,008 (GRCm39) |
I113N |
probably damaging |
Het |
| Saraf |
T |
A |
8: 34,635,767 (GRCm39) |
|
probably null |
Het |
| Slc41a2 |
T |
C |
10: 83,137,022 (GRCm39) |
|
probably null |
Het |
| Slc47a1 |
A |
G |
11: 61,250,229 (GRCm39) |
V352A |
probably benign |
Het |
| Tmem237 |
T |
C |
1: 59,153,375 (GRCm39) |
T49A |
probably benign |
Het |
| Tmem273 |
A |
C |
14: 32,528,778 (GRCm39) |
I48L |
probably benign |
Het |
| Tmprss11e |
C |
T |
5: 86,863,414 (GRCm39) |
C217Y |
probably damaging |
Het |
| Ubfd1 |
T |
C |
7: 121,667,103 (GRCm39) |
V140A |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,516,669 (GRCm39) |
|
probably null |
Het |
| Utrn |
T |
A |
10: 12,574,844 (GRCm39) |
I1028F |
possibly damaging |
Het |
| Virma |
C |
T |
4: 11,539,968 (GRCm39) |
T1479M |
probably damaging |
Het |
| Vwa7 |
G |
T |
17: 35,243,867 (GRCm39) |
R767L |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,065,297 (GRCm39) |
Y1290* |
probably null |
Het |
| Zfp970 |
G |
A |
2: 177,167,338 (GRCm39) |
C304Y |
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 |
|
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 |
|
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'- AGGTTACACCCTTCATGCCC -3'
(R):5'- TAGGACATGCTGAGACATACAC -3'
Sequencing Primer
(F):5'- CCTTCTGCAGGCTTTGGAGC -3'
(R):5'- TGCTGAGACATACACAATTACAGG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation