Incidental Mutation 'R9704:Gabrr2'
ID |
729702 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gabrr2
|
Ensembl Gene |
ENSMUSG00000023267 |
Gene Name |
gamma-aminobutyric acid type A receptor subunit rho 2 |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9704 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
33062999-33095865 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 33063305 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 43
(V43M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024035
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024035]
[ENSMUST00000108162]
|
AlphaFold |
P56476 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024035
AA Change: V43M
PolyPhen 2
Score 0.578 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000024035 Gene: ENSMUSG00000023267 AA Change: V43M
Domain | Start | End | E-Value | Type |
Pfam:Neur_chan_LBD
|
81 |
286 |
3.4e-53 |
PFAM |
Pfam:Neur_chan_memb
|
293 |
454 |
1.9e-32 |
PFAM |
transmembrane domain
|
472 |
489 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108162
AA Change: V18M
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000103797 Gene: ENSMUSG00000023267 AA Change: V18M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:Neur_chan_LBD
|
57 |
261 |
9.7e-57 |
PFAM |
Pfam:Neur_chan_memb
|
268 |
414 |
4.2e-36 |
PFAM |
transmembrane domain
|
447 |
464 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. The protein encoded by this gene is a member of the rho subunit family and is a component of the GABA type A receptor complex. This gene exists on chromosome 6q next to the gene encoding the rho 1 subunit of the GABA type A receptor, in a region thought to be associated with susceptibility for psychiatric disorders and epilepsy. Polymorphisms in this gene may also be associated with alcohol dependence, and general cognitive ability. [provided by RefSeq, Apr 2016]
|
Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
C |
T |
1: 11,588,913 (GRCm39) |
P110L |
probably damaging |
Het |
Aass |
C |
A |
6: 23,120,887 (GRCm39) |
V126F |
possibly damaging |
Het |
Adamts13 |
G |
T |
2: 26,895,237 (GRCm39) |
Q1109H |
|
Het |
Ccdc57 |
A |
C |
11: 120,764,531 (GRCm39) |
V748G |
probably damaging |
Het |
Dclk2 |
A |
G |
3: 86,827,387 (GRCm39) |
S31P |
possibly damaging |
Het |
Dnah5 |
C |
G |
15: 28,247,965 (GRCm39) |
P701A |
probably benign |
Het |
Epc1 |
T |
C |
18: 6,440,130 (GRCm39) |
T642A |
probably damaging |
Het |
Fam149a |
G |
A |
8: 45,795,502 (GRCm39) |
R670W |
probably benign |
Het |
Fgfr1 |
A |
G |
8: 26,063,579 (GRCm39) |
D646G |
probably benign |
Het |
Gli3 |
T |
A |
13: 15,898,058 (GRCm39) |
C713S |
probably damaging |
Het |
Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
Hk3 |
A |
G |
13: 55,160,253 (GRCm39) |
|
probably null |
Het |
Ighv2-9 |
T |
A |
12: 113,842,746 (GRCm39) |
D107V |
possibly damaging |
Het |
Jak2 |
C |
A |
19: 29,275,730 (GRCm39) |
C723* |
probably null |
Het |
Lcor |
T |
C |
19: 41,572,498 (GRCm39) |
S418P |
possibly damaging |
Het |
Lnx1 |
A |
T |
5: 74,780,879 (GRCm39) |
V214E |
probably benign |
Het |
Luzp1 |
T |
A |
4: 136,268,604 (GRCm39) |
S276T |
probably benign |
Het |
Meig1 |
A |
G |
2: 3,410,336 (GRCm39) |
Y55H |
probably damaging |
Het |
Myh2 |
A |
T |
11: 67,071,617 (GRCm39) |
Q478L |
possibly damaging |
Het |
Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
Nxph2 |
T |
C |
2: 23,289,723 (GRCm39) |
V25A |
probably benign |
Het |
Onecut1 |
G |
A |
9: 74,770,258 (GRCm39) |
G227D |
probably benign |
Het |
Phf2 |
G |
T |
13: 48,959,374 (GRCm39) |
D877E |
unknown |
Het |
Pik3cd |
C |
A |
4: 149,739,839 (GRCm39) |
R548L |
probably benign |
Het |
Pp2d1 |
T |
C |
17: 53,822,907 (GRCm39) |
E53G |
probably benign |
Het |
Rtel1 |
C |
T |
2: 180,993,905 (GRCm39) |
Q830* |
probably null |
Het |
Ryr2 |
T |
C |
13: 11,737,646 (GRCm39) |
Y2219C |
probably damaging |
Het |
Spag11b |
A |
G |
8: 19,191,474 (GRCm39) |
N49S |
probably benign |
Het |
Srd5a1 |
T |
A |
13: 69,743,086 (GRCm39) |
I167F |
probably damaging |
Het |
Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
Sv2b |
T |
G |
7: 74,797,420 (GRCm39) |
M325L |
possibly damaging |
Het |
Tpsb2 |
A |
G |
17: 25,585,834 (GRCm39) |
I57M |
probably benign |
Het |
Ttf2 |
T |
C |
3: 100,859,920 (GRCm39) |
E678G |
probably damaging |
Het |
Ulk2 |
A |
G |
11: 61,716,694 (GRCm39) |
F270S |
probably damaging |
Het |
Unc13b |
G |
A |
4: 43,237,102 (GRCm39) |
V603I |
probably benign |
Het |
|
Other mutations in Gabrr2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01410:Gabrr2
|
APN |
4 |
33,085,626 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02070:Gabrr2
|
APN |
4 |
33,095,340 (GRCm39) |
nonsense |
probably null |
|
IGL03283:Gabrr2
|
APN |
4 |
33,082,364 (GRCm39) |
splice site |
probably benign |
|
D3080:Gabrr2
|
UTSW |
4 |
33,084,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R1250:Gabrr2
|
UTSW |
4 |
33,063,273 (GRCm39) |
missense |
probably benign |
0.20 |
R1381:Gabrr2
|
UTSW |
4 |
33,081,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R1630:Gabrr2
|
UTSW |
4 |
33,085,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R1782:Gabrr2
|
UTSW |
4 |
33,085,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R1830:Gabrr2
|
UTSW |
4 |
33,077,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R2000:Gabrr2
|
UTSW |
4 |
33,084,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R2125:Gabrr2
|
UTSW |
4 |
33,095,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R2679:Gabrr2
|
UTSW |
4 |
33,071,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R3695:Gabrr2
|
UTSW |
4 |
33,071,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R3891:Gabrr2
|
UTSW |
4 |
33,081,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R3892:Gabrr2
|
UTSW |
4 |
33,081,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R4902:Gabrr2
|
UTSW |
4 |
33,095,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R5328:Gabrr2
|
UTSW |
4 |
33,082,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R5330:Gabrr2
|
UTSW |
4 |
33,082,583 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5331:Gabrr2
|
UTSW |
4 |
33,082,583 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5399:Gabrr2
|
UTSW |
4 |
33,071,458 (GRCm39) |
critical splice donor site |
probably null |
|
R7299:Gabrr2
|
UTSW |
4 |
33,095,284 (GRCm39) |
missense |
probably benign |
0.02 |
R7301:Gabrr2
|
UTSW |
4 |
33,095,284 (GRCm39) |
missense |
probably benign |
0.02 |
R7605:Gabrr2
|
UTSW |
4 |
33,082,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R7697:Gabrr2
|
UTSW |
4 |
33,071,358 (GRCm39) |
missense |
probably benign |
|
R7860:Gabrr2
|
UTSW |
4 |
33,081,470 (GRCm39) |
nonsense |
probably null |
|
R7957:Gabrr2
|
UTSW |
4 |
33,081,410 (GRCm39) |
missense |
probably damaging |
0.99 |
R8161:Gabrr2
|
UTSW |
4 |
33,082,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R8185:Gabrr2
|
UTSW |
4 |
33,082,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R8463:Gabrr2
|
UTSW |
4 |
33,084,375 (GRCm39) |
missense |
probably damaging |
1.00 |
R8700:Gabrr2
|
UTSW |
4 |
33,095,488 (GRCm39) |
missense |
probably damaging |
0.97 |
R8778:Gabrr2
|
UTSW |
4 |
33,095,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R9137:Gabrr2
|
UTSW |
4 |
33,095,571 (GRCm39) |
missense |
probably benign |
0.36 |
R9366:Gabrr2
|
UTSW |
4 |
33,085,771 (GRCm39) |
missense |
|
|
R9484:Gabrr2
|
UTSW |
4 |
33,071,352 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9528:Gabrr2
|
UTSW |
4 |
33,081,483 (GRCm39) |
missense |
probably benign |
0.01 |
X0017:Gabrr2
|
UTSW |
4 |
33,082,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTTGGGAATCTCAGCCTTG -3'
(R):5'- GTCAGCACTTTGGGAAGGTG -3'
Sequencing Primer
(F):5'- GGGAATCTCAGCCTTGCCAAC -3'
(R):5'- AAGGTGGAGGTCCCTTTAGC -3'
|
Posted On |
2022-10-06 |