Incidental Mutation 'R3695:Gabrr2'
ID |
268938 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gabrr2
|
Ensembl Gene |
ENSMUSG00000023267 |
Gene Name |
gamma-aminobutyric acid type A receptor subunit rho 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3695 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
33062999-33095865 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 33071430 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 65
(D65G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103797
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024035]
[ENSMUST00000108162]
|
AlphaFold |
P56476 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024035
AA Change: D90G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000024035 Gene: ENSMUSG00000023267 AA Change: D90G
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 damaging
Transcript: ENSMUST00000108162
AA Change: D65G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103797 Gene: ENSMUSG00000023267 AA Change: D65G
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: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010106E10Rik |
A |
T |
X: 111,466,012 (GRCm39) |
L187F |
probably damaging |
Het |
Abca17 |
G |
C |
17: 24,508,481 (GRCm39) |
T1018R |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atxn7l1 |
A |
G |
12: 33,408,696 (GRCm39) |
N286S |
probably damaging |
Het |
B430306N03Rik |
C |
T |
17: 48,626,194 (GRCm39) |
T129I |
possibly damaging |
Het |
Cabp2 |
A |
G |
19: 4,133,593 (GRCm39) |
T12A |
probably benign |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Dmrta1 |
T |
A |
4: 89,580,415 (GRCm39) |
Y458* |
probably null |
Het |
Grin3a |
G |
T |
4: 49,792,704 (GRCm39) |
T343K |
possibly damaging |
Het |
Hsp90ab1 |
T |
C |
17: 45,882,403 (GRCm39) |
D97G |
probably damaging |
Het |
Mageb4 |
G |
T |
X: 85,296,000 (GRCm39) |
R10S |
probably damaging |
Het |
Mdm4 |
A |
G |
1: 132,919,731 (GRCm39) |
L379S |
probably benign |
Het |
Or8j3c |
T |
C |
2: 86,253,987 (GRCm39) |
E11G |
probably damaging |
Het |
Or8k40 |
A |
T |
2: 86,584,215 (GRCm39) |
I289N |
probably damaging |
Het |
Pde4b |
C |
T |
4: 102,458,742 (GRCm39) |
A466V |
probably damaging |
Het |
Pkd2l2 |
A |
G |
18: 34,571,843 (GRCm39) |
N614S |
possibly damaging |
Het |
Ppp2r2a |
C |
A |
14: 67,257,199 (GRCm39) |
D344Y |
probably damaging |
Het |
Rbm4 |
A |
G |
19: 4,837,411 (GRCm39) |
Y358H |
probably damaging |
Het |
Skic2 |
A |
G |
17: 35,066,888 (GRCm39) |
F154S |
probably damaging |
Het |
St3gal2 |
A |
G |
8: 111,688,973 (GRCm39) |
D171G |
probably damaging |
Het |
Strn |
T |
C |
17: 78,964,421 (GRCm39) |
N515D |
probably damaging |
Het |
Stxbp5l |
A |
T |
16: 37,061,708 (GRCm39) |
Y367* |
probably null |
Het |
Syk |
A |
G |
13: 52,776,801 (GRCm39) |
|
probably null |
Het |
Tgs1 |
A |
G |
4: 3,604,949 (GRCm39) |
|
probably null |
Het |
Tlr5 |
A |
T |
1: 182,802,912 (GRCm39) |
R739W |
probably damaging |
Het |
Tns2 |
G |
T |
15: 102,021,184 (GRCm39) |
V942L |
probably null |
Het |
Tsnaxip1 |
A |
G |
8: 106,560,167 (GRCm39) |
T40A |
possibly damaging |
Het |
Tub |
A |
G |
7: 108,627,039 (GRCm39) |
S313G |
probably benign |
Het |
Vmn2r77 |
A |
G |
7: 86,450,044 (GRCm39) |
N97D |
probably damaging |
Het |
Wscd2 |
T |
A |
5: 113,689,078 (GRCm39) |
I28N |
possibly damaging |
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 |
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'- GCAGTGTAGAGACCCTTTAGTC -3'
(R):5'- TGTCAACAGCCTCTCCACTG -3'
Sequencing Primer
(F):5'- GCCTCCTTGTGTGCATCAGAATAAAG -3'
(R):5'- ACTGCCTGCCTGTGACCAC -3'
|
Posted On |
2015-02-19 |