Incidental Mutation 'R1630:Gabrr2'
ID |
172721 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gabrr2
|
Ensembl Gene |
ENSMUSG00000023267 |
Gene Name |
gamma-aminobutyric acid type A receptor subunit rho 2 |
Synonyms |
|
MMRRC Submission |
039667-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1630 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
33062999-33095865 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 33085647 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 331
(S331G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103797
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024035]
[ENSMUST00000108162]
[ENSMUST00000131920]
|
AlphaFold |
P56476 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024035
AA Change: S356G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000024035 Gene: ENSMUSG00000023267 AA Change: S356G
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: S331G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103797 Gene: ENSMUSG00000023267 AA Change: S331G
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131920
|
SMART Domains |
Protein: ENSMUSP00000118514 Gene: ENSMUSG00000023267
Domain | Start | End | E-Value | Type |
Pfam:Neur_chan_LBD
|
1 |
162 |
3.3e-46 |
PFAM |
Pfam:Neur_chan_memb
|
169 |
204 |
3.5e-14 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000147889
AA Change: S176G
|
SMART Domains |
Protein: ENSMUSP00000114337 Gene: ENSMUSG00000023267 AA Change: S176G
Domain | Start | End | E-Value | Type |
Pfam:Neur_chan_LBD
|
1 |
107 |
7.1e-28 |
PFAM |
Pfam:Neur_chan_memb
|
114 |
219 |
1.1e-33 |
PFAM |
|
Meta Mutation Damage Score |
0.1150 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
Validation Efficiency |
100% (67/67) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931429P17Rik |
C |
A |
13: 48,114,201 (GRCm39) |
|
noncoding transcript |
Het |
9930012K11Rik |
T |
C |
14: 70,394,629 (GRCm39) |
E175G |
probably benign |
Het |
A630091E08Rik |
A |
G |
7: 98,192,814 (GRCm39) |
|
noncoding transcript |
Het |
Atm |
A |
T |
9: 53,390,973 (GRCm39) |
L1867Q |
probably damaging |
Het |
Atp5f1a |
A |
G |
18: 77,865,267 (GRCm39) |
D63G |
possibly damaging |
Het |
Baz2b |
A |
T |
2: 59,836,474 (GRCm39) |
S20T |
unknown |
Het |
C1qtnf7 |
G |
A |
5: 43,766,503 (GRCm39) |
C34Y |
possibly damaging |
Het |
Cactin |
A |
G |
10: 81,159,559 (GRCm39) |
T353A |
probably benign |
Het |
Cdyl |
A |
G |
13: 35,867,786 (GRCm39) |
K21E |
possibly damaging |
Het |
Crispld1 |
A |
G |
1: 17,799,022 (GRCm39) |
T48A |
probably benign |
Het |
Csmd3 |
T |
A |
15: 47,701,918 (GRCm39) |
T1722S |
possibly damaging |
Het |
Dapk1 |
A |
T |
13: 60,877,345 (GRCm39) |
E528V |
probably damaging |
Het |
Dennd4a |
A |
G |
9: 64,779,164 (GRCm39) |
D549G |
probably benign |
Het |
Dnajc5b |
C |
A |
3: 19,628,905 (GRCm39) |
N66K |
probably damaging |
Het |
Dusp16 |
G |
T |
6: 134,697,524 (GRCm39) |
R250S |
probably damaging |
Het |
F10 |
A |
G |
8: 13,105,551 (GRCm39) |
N384S |
probably benign |
Het |
Gm12185 |
A |
C |
11: 48,798,717 (GRCm39) |
I592S |
probably benign |
Het |
Gm9755 |
T |
C |
8: 67,967,312 (GRCm39) |
|
noncoding transcript |
Het |
Hspg2 |
T |
C |
4: 137,245,746 (GRCm39) |
L913P |
probably damaging |
Het |
Ifna1 |
T |
A |
4: 88,768,566 (GRCm39) |
S81R |
probably benign |
Het |
Iqgap2 |
T |
C |
13: 95,826,293 (GRCm39) |
K510E |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lhx6 |
A |
G |
2: 35,992,913 (GRCm39) |
Y140H |
probably damaging |
Het |
Lix1 |
A |
G |
17: 17,677,420 (GRCm39) |
H205R |
probably damaging |
Het |
Masp2 |
A |
T |
4: 148,698,490 (GRCm39) |
T524S |
probably benign |
Het |
Mndal |
A |
C |
1: 173,701,958 (GRCm39) |
F115V |
possibly damaging |
Het |
Morc3 |
C |
A |
16: 93,663,421 (GRCm39) |
N541K |
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Myocd |
A |
G |
11: 65,087,220 (GRCm39) |
S236P |
probably benign |
Het |
Nes |
T |
A |
3: 87,884,984 (GRCm39) |
V1037E |
probably benign |
Het |
Nfkbil1 |
A |
G |
17: 35,440,140 (GRCm39) |
W178R |
probably damaging |
Het |
Nobox |
A |
T |
6: 43,284,146 (GRCm39) |
C8* |
probably null |
Het |
Nwd1 |
A |
G |
8: 73,393,657 (GRCm39) |
T348A |
possibly damaging |
Het |
Or1e23 |
T |
C |
11: 73,407,546 (GRCm39) |
T160A |
probably damaging |
Het |
Or5bw2 |
T |
C |
7: 6,573,673 (GRCm39) |
S228P |
probably damaging |
Het |
Or8k17 |
A |
G |
2: 86,066,430 (GRCm39) |
S243P |
probably damaging |
Het |
Osbp2 |
T |
C |
11: 3,667,167 (GRCm39) |
T448A |
probably benign |
Het |
Plrg1 |
A |
G |
3: 82,966,070 (GRCm39) |
D75G |
probably benign |
Het |
Ppp1r8 |
T |
C |
4: 132,556,748 (GRCm39) |
E213G |
probably benign |
Het |
Rad54l2 |
A |
G |
9: 106,580,828 (GRCm39) |
F898L |
possibly damaging |
Het |
Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
Rasl10a |
G |
C |
11: 5,009,542 (GRCm39) |
R110P |
probably damaging |
Het |
Rttn |
T |
C |
18: 89,061,078 (GRCm39) |
I1082T |
probably benign |
Het |
Sema6d |
A |
G |
2: 124,506,265 (GRCm39) |
D734G |
possibly damaging |
Het |
Sgce |
C |
T |
6: 4,719,476 (GRCm39) |
V44M |
probably damaging |
Het |
Sgo2b |
A |
G |
8: 64,380,831 (GRCm39) |
V667A |
possibly damaging |
Het |
Shcbp1 |
A |
T |
8: 4,798,763 (GRCm39) |
C118* |
probably null |
Het |
Slain2 |
C |
T |
5: 73,133,347 (GRCm39) |
P563S |
probably damaging |
Het |
Slco1b2 |
A |
T |
6: 141,602,547 (GRCm39) |
I167F |
probably damaging |
Het |
Speg |
T |
C |
1: 75,399,621 (GRCm39) |
L2356P |
probably damaging |
Het |
Sptbn4 |
A |
G |
7: 27,118,164 (GRCm39) |
V305A |
probably benign |
Het |
Sspo |
G |
A |
6: 48,434,658 (GRCm39) |
R1050H |
probably benign |
Het |
Tmem106b |
A |
G |
6: 13,081,540 (GRCm39) |
N149S |
probably benign |
Het |
Tmem200a |
T |
C |
10: 25,868,812 (GRCm39) |
T486A |
probably damaging |
Het |
Tmem212 |
T |
A |
3: 27,939,250 (GRCm39) |
T79S |
possibly damaging |
Het |
Ttll11 |
A |
G |
2: 35,779,337 (GRCm39) |
V471A |
probably damaging |
Het |
Vill |
A |
G |
9: 118,899,769 (GRCm39) |
N318D |
probably benign |
Het |
Vmn2r102 |
A |
G |
17: 19,899,032 (GRCm39) |
D458G |
possibly damaging |
Het |
Zfp472 |
T |
A |
17: 33,196,952 (GRCm39) |
C342* |
probably null |
Het |
Zfp963 |
A |
T |
8: 70,196,837 (GRCm39) |
|
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 |
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'- TGACATTCCAGGAGGTGTGAGTCAG -3'
(R):5'- TTCTTGTCCAGACACTAGCCCCAG -3'
Sequencing Primer
(F):5'- CTCCACTGTGTGGAAATATGGC -3'
(R):5'- GCCCCAGCTTACAAGAGAAGAG -3'
|
Posted On |
2014-04-24 |