Incidental Mutation 'IGL02070:Gabrr2'
| ID |
285445 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02070
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
33062999-33095865 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 33095340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 385
(E385*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024035]
[ENSMUST00000108162]
|
| AlphaFold |
P56476 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000024035
AA Change: E410*
|
| SMART Domains |
Protein: ENSMUSP00000024035
Gene: ENSMUSG00000023267
AA Change: E410*
| 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 null
Transcript: ENSMUST00000108162
AA Change: E385*
|
| SMART Domains |
Protein: ENSMUSP00000103797
Gene: ENSMUSG00000023267
AA Change: E385*
| 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 |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
G |
10: 14,343,336 (GRCm39) |
Y204H |
probably damaging |
Het |
| Akap13 |
C |
A |
7: 75,316,293 (GRCm39) |
T583K |
probably benign |
Het |
| Alms1 |
C |
A |
6: 85,628,385 (GRCm39) |
Q2948K |
possibly damaging |
Het |
| Auts2 |
C |
T |
5: 131,499,259 (GRCm39) |
R327Q |
probably damaging |
Het |
| Card14 |
A |
C |
11: 119,235,530 (GRCm39) |
E988A |
probably damaging |
Het |
| Ccl25 |
T |
C |
8: 4,398,700 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2nl |
A |
C |
3: 104,918,582 (GRCm39) |
V86G |
probably damaging |
Het |
| Cyb5r2 |
G |
A |
7: 107,350,394 (GRCm39) |
T213I |
probably damaging |
Het |
| Ear6 |
A |
G |
14: 52,091,903 (GRCm39) |
H150R |
probably damaging |
Het |
| Ecm2 |
T |
C |
13: 49,671,846 (GRCm39) |
C116R |
probably damaging |
Het |
| Hyal5 |
T |
A |
6: 24,876,961 (GRCm39) |
V278D |
probably damaging |
Het |
| Mboat1 |
T |
C |
13: 30,408,380 (GRCm39) |
L181P |
probably benign |
Het |
| Mdm1 |
A |
G |
10: 117,982,523 (GRCm39) |
I53V |
probably damaging |
Het |
| Mfrp |
T |
C |
9: 44,015,986 (GRCm39) |
Y368H |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,833,496 (GRCm39) |
V365A |
probably damaging |
Het |
| Nexmif |
G |
T |
X: 103,126,817 (GRCm39) |
H1509Q |
probably benign |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Obox6 |
G |
A |
7: 15,568,804 (GRCm39) |
S24L |
probably damaging |
Het |
| Optc |
T |
A |
1: 133,828,914 (GRCm39) |
I178F |
probably damaging |
Het |
| Or4p22 |
T |
A |
2: 88,317,346 (GRCm39) |
I90N |
probably damaging |
Het |
| Or56a42-ps1 |
G |
T |
7: 104,776,254 (GRCm39) |
L85I |
probably benign |
Het |
| Pcdh15 |
T |
A |
10: 74,466,700 (GRCm39) |
N1535K |
probably benign |
Het |
| Pcdhb19 |
A |
T |
18: 37,631,597 (GRCm39) |
N464I |
probably damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,416,406 (GRCm39) |
V1681I |
probably benign |
Het |
| Phf8-ps |
T |
C |
17: 33,285,104 (GRCm39) |
E566G |
probably damaging |
Het |
| Pknox1 |
T |
A |
17: 31,822,339 (GRCm39) |
|
probably benign |
Het |
| Ppa2 |
T |
C |
3: 133,083,623 (GRCm39) |
F327S |
probably damaging |
Het |
| Rab39b |
G |
T |
X: 74,618,309 (GRCm39) |
L174M |
probably damaging |
Het |
| Reep5 |
A |
T |
18: 34,505,526 (GRCm39) |
Y48* |
probably null |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Sar1a |
T |
A |
10: 61,520,673 (GRCm39) |
|
probably benign |
Het |
| Satb1 |
T |
A |
17: 52,047,095 (GRCm39) |
D740V |
probably damaging |
Het |
| Sema3f |
G |
A |
9: 107,569,440 (GRCm39) |
T128I |
probably damaging |
Het |
| Snx1 |
A |
T |
9: 66,005,731 (GRCm39) |
S129R |
probably damaging |
Het |
| Sptb |
T |
A |
12: 76,652,313 (GRCm39) |
K1641N |
possibly damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,095,979 (GRCm39) |
E305G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Taar7d |
A |
T |
10: 23,904,152 (GRCm39) |
I345F |
probably benign |
Het |
| Tes |
T |
C |
6: 17,099,779 (GRCm39) |
L258P |
probably damaging |
Het |
| Trav9-4 |
A |
T |
14: 53,913,817 (GRCm39) |
T24S |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,657,739 (GRCm39) |
|
probably benign |
Het |
| Vcam1 |
T |
A |
3: 115,919,646 (GRCm39) |
T207S |
probably benign |
Het |
| Xkrx |
T |
C |
X: 133,051,311 (GRCm39) |
S447G |
probably benign |
Het |
| Zfp318 |
T |
C |
17: 46,707,644 (GRCm39) |
L234P |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation