Incidental Mutation 'IGL02169:Gabrr1'
| ID |
282816 |
| 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: 0.069)
|
| Stock # |
IGL02169
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
33132556-33163606 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 33160261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 315
(V315G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029947]
|
| AlphaFold |
P56475 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029947
AA Change: V315G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029947
Gene: ENSMUSG00000028280
AA Change: V315G
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,843,408 (GRCm39) |
I1001F |
probably damaging |
Het |
| Amfr |
A |
T |
8: 94,731,858 (GRCm39) |
|
probably null |
Het |
| Apol7c |
T |
G |
15: 77,410,616 (GRCm39) |
D110A |
possibly damaging |
Het |
| Bcr |
A |
G |
10: 74,995,714 (GRCm39) |
N899S |
probably benign |
Het |
| Ccnt2 |
T |
A |
1: 127,702,126 (GRCm39) |
|
probably benign |
Het |
| Clptm1l |
G |
A |
13: 73,759,782 (GRCm39) |
V281I |
probably damaging |
Het |
| Ctsr |
A |
G |
13: 61,311,054 (GRCm39) |
|
probably benign |
Het |
| Dbh |
G |
A |
2: 27,064,910 (GRCm39) |
V374M |
probably damaging |
Het |
| Eif3b |
A |
G |
5: 140,415,836 (GRCm39) |
D385G |
possibly damaging |
Het |
| F830045P16Rik |
A |
G |
2: 129,305,492 (GRCm39) |
V294A |
probably damaging |
Het |
| Foxj2 |
A |
G |
6: 122,805,425 (GRCm39) |
N99S |
probably damaging |
Het |
| Gm21988 |
T |
C |
11: 70,129,764 (GRCm39) |
E25G |
probably benign |
Het |
| Islr |
A |
T |
9: 58,065,415 (GRCm39) |
F31I |
possibly damaging |
Het |
| L2hgdh |
A |
T |
12: 69,768,171 (GRCm39) |
L109Q |
probably damaging |
Het |
| Lrp6 |
A |
G |
6: 134,490,290 (GRCm39) |
I96T |
probably damaging |
Het |
| Nup93 |
A |
G |
8: 95,028,757 (GRCm39) |
D330G |
probably damaging |
Het |
| Or2ag19 |
T |
A |
7: 106,444,473 (GRCm39) |
Y218* |
probably null |
Het |
| Or8k33 |
T |
C |
2: 86,384,226 (GRCm39) |
M81V |
probably benign |
Het |
| Phtf1 |
C |
A |
3: 103,904,815 (GRCm39) |
L488I |
probably benign |
Het |
| Plac8l1 |
T |
C |
18: 42,312,008 (GRCm39) |
D137G |
probably damaging |
Het |
| Pth1r |
G |
A |
9: 110,553,503 (GRCm39) |
T392I |
probably damaging |
Het |
| Rab43 |
A |
G |
6: 87,788,406 (GRCm39) |
F41L |
probably damaging |
Het |
| Ralgapb |
C |
T |
2: 158,268,124 (GRCm39) |
L76F |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 51,958,053 (GRCm39) |
|
probably null |
Het |
| Rpl27a |
T |
C |
7: 109,119,185 (GRCm39) |
I43T |
probably benign |
Het |
| Set |
G |
A |
2: 29,959,536 (GRCm39) |
D129N |
possibly damaging |
Het |
| Sorbs2 |
A |
T |
8: 46,276,786 (GRCm39) |
Y604F |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,629,792 (GRCm39) |
V491A |
probably benign |
Het |
| Txlna |
T |
C |
4: 129,523,406 (GRCm39) |
T429A |
probably damaging |
Het |
| Vmn1r128 |
C |
T |
7: 21,084,163 (GRCm39) |
P289L |
probably damaging |
Het |
| Wfs1 |
A |
G |
5: 37,125,823 (GRCm39) |
F356S |
probably damaging |
Het |
| Zfp687 |
G |
A |
3: 94,918,743 (GRCm39) |
T343I |
probably damaging |
Het |
| Zfp935 |
A |
G |
13: 62,604,745 (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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation