Incidental Mutation 'R1250:Gabrr2'
| ID |
151716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gabrr2
|
| Ensembl Gene |
ENSMUSG00000023267 |
| Gene Name |
gamma-aminobutyric acid type A receptor subunit rho 2 |
| Synonyms |
|
| MMRRC Submission |
039317-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1250 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
33062999-33095865 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33063273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 32
(L32P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024035
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024035]
[ENSMUST00000108162]
|
| AlphaFold |
P56476 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024035
AA Change: L32P
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000024035
Gene: ENSMUSG00000023267
AA Change: L32P
| 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: L7P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103797
Gene: ENSMUSG00000023267
AA Change: L7P
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aptx |
T |
A |
4: 40,693,447 (GRCm39) |
E162D |
probably benign |
Het |
| Cdhr4 |
A |
T |
9: 107,874,715 (GRCm39) |
Q20L |
probably damaging |
Het |
| Dlk1 |
A |
T |
12: 109,425,744 (GRCm39) |
T206S |
probably damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,922,262 (GRCm39) |
S954T |
possibly damaging |
Het |
| Krt28 |
A |
G |
11: 99,257,648 (GRCm39) |
|
probably null |
Het |
| Lingo3 |
T |
C |
10: 80,670,605 (GRCm39) |
T442A |
probably benign |
Het |
| Map3k5 |
G |
A |
10: 19,986,521 (GRCm39) |
A912T |
possibly damaging |
Het |
| Msantd3 |
C |
A |
4: 48,552,789 (GRCm39) |
P126Q |
probably damaging |
Het |
| Nek10 |
T |
C |
14: 14,853,887 (GRCm38) |
S358P |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Prss59 |
A |
T |
6: 40,902,909 (GRCm39) |
|
probably null |
Het |
| Qtrt1 |
C |
T |
9: 21,330,844 (GRCm39) |
T324M |
probably benign |
Het |
| Rag2 |
A |
G |
2: 101,460,784 (GRCm39) |
S365G |
probably damaging |
Het |
| Slc6a2 |
C |
A |
8: 93,719,491 (GRCm39) |
T402K |
probably benign |
Het |
| Slc9b1 |
T |
C |
3: 135,054,531 (GRCm39) |
M1T |
probably null |
Het |
| Ttn |
A |
G |
2: 76,720,904 (GRCm39) |
|
probably benign |
Het |
| Vmn1r31 |
A |
G |
6: 58,449,643 (GRCm39) |
V74A |
probably benign |
Het |
| Zkscan3 |
A |
G |
13: 21,572,694 (GRCm39) |
F313L |
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 |
|
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 |
|
R9704:Gabrr2
|
UTSW |
4 |
33,063,305 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
X0017:Gabrr2
|
UTSW |
4 |
33,082,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGAATCTCAGCCTTGCCAAC -3'
(R):5'- CGCATCTGAGCCGTCTACCAAAATG -3'
Sequencing Primer
(F):5'- AGCCTTGCCAACCATGC -3'
(R):5'- GCTCTTAATGCACATGAGTGTCAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation