Incidental Mutation 'R0739:Gabrr1'
ID |
70615 |
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 |
038920-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R0739 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
33132556-33163606 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 33162781 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 449
(M449T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029947
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029947]
|
AlphaFold |
P56475 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029947
AA Change: M449T
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000029947 Gene: ENSMUSG00000028280 AA Change: M449T
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 |
0.1047 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.0%
|
Validation Efficiency |
98% (48/49) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl6 |
A |
G |
11: 54,227,961 (GRCm39) |
E327G |
probably damaging |
Het |
Adcy6 |
T |
C |
15: 98,496,260 (GRCm39) |
D593G |
probably benign |
Het |
Ankmy1 |
T |
C |
1: 92,816,370 (GRCm39) |
D248G |
probably damaging |
Het |
Atp2a1 |
T |
C |
7: 126,047,428 (GRCm39) |
I743V |
possibly damaging |
Het |
Axdnd1 |
T |
C |
1: 156,208,456 (GRCm39) |
N396D |
possibly damaging |
Het |
Cacna1e |
C |
T |
1: 154,318,024 (GRCm39) |
A1391T |
probably damaging |
Het |
Ccr8 |
G |
A |
9: 119,923,415 (GRCm39) |
G177S |
probably damaging |
Het |
Clmn |
C |
T |
12: 104,747,276 (GRCm39) |
G757D |
possibly damaging |
Het |
Cntn2 |
T |
A |
1: 132,456,750 (GRCm39) |
I99F |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,650 (GRCm39) |
A271G |
unknown |
Het |
Dnah1 |
A |
T |
14: 30,987,872 (GRCm39) |
C3515* |
probably null |
Het |
Eif2d |
A |
G |
1: 131,082,100 (GRCm39) |
Y64C |
probably damaging |
Het |
Elovl4 |
A |
G |
9: 83,667,162 (GRCm39) |
F65S |
probably damaging |
Het |
F5 |
G |
C |
1: 164,026,486 (GRCm39) |
R1686P |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,209,550 (GRCm39) |
E938G |
probably benign |
Het |
Foxn1 |
T |
C |
11: 78,249,825 (GRCm39) |
T567A |
probably benign |
Het |
Gdf2 |
C |
T |
14: 33,663,178 (GRCm39) |
P24L |
probably damaging |
Het |
Itgb3bp |
T |
C |
4: 99,690,433 (GRCm39) |
I29V |
probably benign |
Het |
Kcnk7 |
C |
T |
19: 5,754,830 (GRCm39) |
|
probably null |
Het |
Klf11 |
T |
C |
12: 24,710,247 (GRCm39) |
S432P |
probably damaging |
Het |
Neo1 |
C |
T |
9: 58,829,160 (GRCm39) |
A580T |
probably benign |
Het |
Nexmif |
G |
T |
X: 103,128,555 (GRCm39) |
Q1121K |
probably benign |
Het |
Or51aa5 |
T |
C |
7: 103,166,931 (GRCm39) |
Y220C |
probably damaging |
Het |
Or51f5 |
T |
C |
7: 102,423,872 (GRCm39) |
I47T |
probably damaging |
Het |
Or5p62 |
T |
C |
7: 107,771,217 (GRCm39) |
T245A |
probably benign |
Het |
Osgepl1 |
G |
T |
1: 53,362,354 (GRCm39) |
E399* |
probably null |
Het |
Parvg |
T |
A |
15: 84,215,222 (GRCm39) |
V197E |
probably damaging |
Het |
Pcyt2 |
A |
G |
11: 120,502,870 (GRCm39) |
L257P |
probably damaging |
Het |
Pou3f2 |
T |
C |
4: 22,486,960 (GRCm39) |
D391G |
possibly damaging |
Het |
Psmd2 |
C |
T |
16: 20,474,079 (GRCm39) |
R261C |
probably benign |
Het |
Ptpn13 |
T |
C |
5: 103,722,998 (GRCm39) |
F1981L |
probably benign |
Het |
Rbp3 |
A |
T |
14: 33,680,604 (GRCm39) |
I1069F |
probably benign |
Het |
Rhbdf2 |
A |
T |
11: 116,490,987 (GRCm39) |
L655Q |
probably damaging |
Het |
Sec16a |
A |
T |
2: 26,331,063 (GRCm39) |
N317K |
possibly damaging |
Het |
Serpina3f |
T |
C |
12: 104,184,612 (GRCm39) |
V252A |
probably damaging |
Het |
Slc22a23 |
C |
T |
13: 34,528,366 (GRCm39) |
G139S |
possibly damaging |
Het |
Smyd2 |
T |
C |
1: 189,621,059 (GRCm39) |
T220A |
possibly damaging |
Het |
Snrpb2 |
T |
A |
2: 142,907,281 (GRCm39) |
|
probably benign |
Het |
Spopfm1 |
A |
G |
3: 94,173,102 (GRCm39) |
M37V |
probably benign |
Het |
Sptan1 |
A |
T |
2: 29,903,530 (GRCm39) |
I1502F |
probably damaging |
Het |
Srprb |
A |
T |
9: 103,074,794 (GRCm39) |
L116H |
probably damaging |
Het |
Stradb |
T |
A |
1: 59,016,174 (GRCm39) |
|
probably benign |
Het |
Tm9sf4 |
C |
A |
2: 153,045,734 (GRCm39) |
F535L |
probably damaging |
Het |
Tmprss15 |
A |
T |
16: 78,821,736 (GRCm39) |
S440T |
possibly damaging |
Het |
Tpr |
C |
T |
1: 150,283,248 (GRCm39) |
A293V |
possibly damaging |
Het |
Usp34 |
C |
T |
11: 23,417,243 (GRCm39) |
T2964I |
possibly damaging |
Het |
Usp35 |
C |
A |
7: 96,960,874 (GRCm39) |
E851* |
probably null |
Het |
Zc3h14 |
T |
A |
12: 98,723,460 (GRCm39) |
V250D |
probably damaging |
Het |
Zfp568 |
T |
A |
7: 29,722,746 (GRCm39) |
C564S |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCTGGACAGCAGCTACAGTGATG -3'
(R):5'- ACCCCTCAATGTGAACAGAGTCAGG -3'
Sequencing Primer
(F):5'- CTACAGTGATGGAGAGGTGAAC -3'
(R):5'- GTCAGGTACTATCATGGCAACTTC -3'
|
Posted On |
2013-09-30 |