Incidental Mutation 'R5729:Gabrg2'
| ID |
452669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gabrg2
|
| Ensembl Gene |
ENSMUSG00000020436 |
| Gene Name |
gamma-aminobutyric acid type A receptor, subunit gamma 2 |
| Synonyms |
GABAA-R, Gabrg-2, gamma2 |
| MMRRC Submission |
043346-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
R5729 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
41801030-41891684 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41858450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 226
(V226A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104913
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070725]
[ENSMUST00000070735]
[ENSMUST00000109290]
|
| AlphaFold |
P22723 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070725
AA Change: V226A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000064739
Gene: ENSMUSG00000020436
AA Change: V226A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
38 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
65 |
271 |
2.7e-55 |
PFAM |
|
Pfam:Neur_chan_memb
|
278 |
408 |
1.8e-46 |
PFAM |
|
transmembrane domain
|
442 |
464 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070735
AA Change: V226A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000063812
Gene: ENSMUSG00000020436
AA Change: V226A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
38 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
65 |
271 |
2.9e-53 |
PFAM |
|
Pfam:Neur_chan_memb
|
278 |
419 |
2.2e-38 |
PFAM |
|
transmembrane domain
|
450 |
472 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109290
AA Change: V226A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104913
Gene: ENSMUSG00000020436
AA Change: V226A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
38 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
65 |
271 |
1.2e-55 |
PFAM |
|
Pfam:Neur_chan_memb
|
278 |
381 |
4.3e-44 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125365
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139508
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155032
|
| Meta Mutation Damage Score |
0.3061 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
97% (62/64) |
| MGI Phenotype |
FUNCTION: This gene encodes a gamma-aminobutyric acid (GABA)-A receptor subunit, which is a member of the ligand-gated ion channel family. GABA is the major inhibitory neurotransmitter in the adult central nervous system, and conversely exhibits an excitatory function during development. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. This gene encodes one of three gamma subunits in mammals, which contain the binding site for benzodiazepine drugs. Several mutations in this gene are associated with epileptic seizures, and genetic knockdown is associated with anxiety behavior. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit retarded postnatal growth, impaired sensorimotor function, and greatly reduced lifespan. Heterozygotes show enhanced anxiety-related behaviors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adss2 |
A |
T |
1: 177,623,824 (GRCm39) |
V46E |
possibly damaging |
Het |
| Aldoart2 |
T |
C |
12: 55,612,690 (GRCm39) |
V205A |
probably benign |
Het |
| Atp1a2 |
A |
G |
1: 172,120,938 (GRCm39) |
S45P |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,411,851 (GRCm39) |
K29E |
possibly damaging |
Het |
| AU040320 |
T |
A |
4: 126,724,208 (GRCm39) |
D428E |
probably damaging |
Het |
| Bend7 |
T |
C |
2: 4,768,085 (GRCm39) |
L347P |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,140,037 (GRCm39) |
L9* |
probably null |
Het |
| Ccdc103 |
A |
T |
11: 102,773,904 (GRCm39) |
I50F |
probably damaging |
Het |
| Cdc5l |
T |
C |
17: 45,737,495 (GRCm39) |
I88V |
probably benign |
Het |
| Cracr2a |
T |
C |
6: 127,584,199 (GRCm39) |
V86A |
possibly damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dgkd |
C |
T |
1: 87,864,054 (GRCm39) |
Q90* |
probably null |
Het |
| Dnajc21 |
A |
T |
15: 10,449,682 (GRCm39) |
D446E |
probably benign |
Het |
| Fam13a |
T |
G |
6: 58,916,292 (GRCm39) |
R648S |
probably damaging |
Het |
| Gm5499 |
A |
T |
17: 87,385,944 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Irf2bp1 |
G |
T |
7: 18,739,172 (GRCm39) |
E271* |
probably null |
Het |
| Krt86 |
T |
G |
15: 101,374,429 (GRCm39) |
V274G |
probably benign |
Het |
| Lats2 |
A |
T |
14: 57,960,192 (GRCm39) |
C151S |
probably benign |
Het |
| Mapk3 |
A |
T |
7: 126,363,979 (GRCm39) |
T254S |
probably benign |
Het |
| Mat2b |
A |
T |
11: 40,573,373 (GRCm39) |
M202K |
probably damaging |
Het |
| Mos |
A |
G |
4: 3,870,971 (GRCm39) |
Y282H |
probably benign |
Het |
| Myo3b |
A |
G |
2: 69,936,083 (GRCm39) |
K108R |
probably damaging |
Het |
| Naa16 |
A |
G |
14: 79,593,220 (GRCm39) |
Y417H |
probably damaging |
Het |
| Oat |
A |
T |
7: 132,159,984 (GRCm39) |
I412N |
probably damaging |
Het |
| Or4d11 |
A |
T |
19: 12,013,272 (GRCm39) |
I278N |
probably damaging |
Het |
| Pcdh1 |
A |
T |
18: 38,335,999 (GRCm39) |
V73D |
probably damaging |
Het |
| Pigv |
A |
T |
4: 133,392,134 (GRCm39) |
Y345* |
probably null |
Het |
| Pitpnc1 |
G |
T |
11: 107,228,264 (GRCm39) |
F34L |
probably benign |
Het |
| Plxnd1 |
A |
G |
6: 115,942,838 (GRCm39) |
L1282P |
probably damaging |
Het |
| Ppp1r3a |
T |
C |
6: 14,719,762 (GRCm39) |
D384G |
probably benign |
Het |
| Ppp2ca |
G |
A |
11: 52,008,856 (GRCm39) |
E119K |
probably damaging |
Het |
| Psg29 |
A |
T |
7: 16,944,459 (GRCm39) |
N323I |
probably damaging |
Het |
| Rasa4 |
T |
C |
5: 136,122,016 (GRCm39) |
V108A |
probably benign |
Het |
| Rbm14 |
A |
G |
19: 4,852,577 (GRCm39) |
|
probably benign |
Het |
| Rfc1 |
A |
T |
5: 65,434,795 (GRCm39) |
V657E |
probably damaging |
Het |
| Rhcg |
A |
T |
7: 79,250,371 (GRCm39) |
N237K |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,397,617 (GRCm39) |
Q1302R |
probably benign |
Het |
| Rragc |
A |
G |
4: 123,818,645 (GRCm39) |
M287V |
possibly damaging |
Het |
| Scn7a |
A |
G |
2: 66,572,301 (GRCm39) |
|
probably null |
Het |
| Sema6a |
C |
T |
18: 47,414,410 (GRCm39) |
C506Y |
probably damaging |
Het |
| Senp1 |
G |
T |
15: 97,964,412 (GRCm39) |
H267Q |
possibly damaging |
Het |
| Skor2 |
A |
G |
18: 76,946,578 (GRCm39) |
E100G |
unknown |
Het |
| Slc38a11 |
A |
T |
2: 65,147,365 (GRCm39) |
C371S |
probably benign |
Het |
| Snai3 |
G |
A |
8: 123,181,629 (GRCm39) |
A276V |
probably benign |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Spag6 |
C |
T |
2: 18,720,525 (GRCm39) |
T99I |
probably benign |
Het |
| Spop |
A |
G |
11: 95,376,675 (GRCm39) |
I243V |
possibly damaging |
Het |
| Sra1 |
A |
T |
18: 36,800,496 (GRCm39) |
|
probably benign |
Het |
| Stag3 |
T |
A |
5: 138,288,485 (GRCm39) |
S140T |
possibly damaging |
Het |
| Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
| Tbc1d2b |
G |
C |
9: 90,089,925 (GRCm39) |
A868G |
probably benign |
Het |
| Tead2 |
A |
G |
7: 44,870,166 (GRCm39) |
|
probably benign |
Het |
| Tmem53 |
C |
A |
4: 117,125,669 (GRCm39) |
H261N |
probably damaging |
Het |
| Ube4a |
A |
T |
9: 44,844,627 (GRCm39) |
S932T |
probably damaging |
Het |
| Usp9y |
A |
T |
Y: 1,381,339 (GRCm39) |
D827E |
probably damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,334,733 (GRCm39) |
E309G |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,758,806 (GRCm39) |
S1026G |
probably benign |
Het |
| Zfp646 |
G |
A |
7: 127,484,626 (GRCm39) |
A1760T |
probably damaging |
Het |
|
| Other mutations in Gabrg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00640:Gabrg2
|
APN |
11 |
41,862,599 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL00787:Gabrg2
|
APN |
11 |
41,803,349 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01941:Gabrg2
|
APN |
11 |
41,862,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02801:Gabrg2
|
APN |
11 |
41,803,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0376:Gabrg2
|
UTSW |
11 |
41,807,142 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1607:Gabrg2
|
UTSW |
11 |
41,867,490 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1934:Gabrg2
|
UTSW |
11 |
41,811,297 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2226:Gabrg2
|
UTSW |
11 |
41,862,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2281:Gabrg2
|
UTSW |
11 |
41,867,463 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4013:Gabrg2
|
UTSW |
11 |
41,862,707 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4675:Gabrg2
|
UTSW |
11 |
41,859,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4869:Gabrg2
|
UTSW |
11 |
41,811,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5282:Gabrg2
|
UTSW |
11 |
41,862,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5316:Gabrg2
|
UTSW |
11 |
41,867,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5876:Gabrg2
|
UTSW |
11 |
41,859,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6279:Gabrg2
|
UTSW |
11 |
41,891,350 (GRCm39) |
splice site |
probably null |
|
|
R6300:Gabrg2
|
UTSW |
11 |
41,891,350 (GRCm39) |
splice site |
probably null |
|
|
R6315:Gabrg2
|
UTSW |
11 |
41,862,688 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7181:Gabrg2
|
UTSW |
11 |
41,811,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7182:Gabrg2
|
UTSW |
11 |
41,811,333 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7368:Gabrg2
|
UTSW |
11 |
41,867,390 (GRCm39) |
nonsense |
probably null |
|
|
R7568:Gabrg2
|
UTSW |
11 |
41,807,119 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7599:Gabrg2
|
UTSW |
11 |
41,858,451 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7901:Gabrg2
|
UTSW |
11 |
41,867,418 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7940:Gabrg2
|
UTSW |
11 |
41,858,474 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8250:Gabrg2
|
UTSW |
11 |
41,858,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8899:Gabrg2
|
UTSW |
11 |
41,867,377 (GRCm39) |
nonsense |
probably null |
|
|
R9043:Gabrg2
|
UTSW |
11 |
41,865,662 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9382:Gabrg2
|
UTSW |
11 |
41,858,433 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9720:Gabrg2
|
UTSW |
11 |
41,862,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Gabrg2
|
UTSW |
11 |
41,803,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1191:Gabrg2
|
UTSW |
11 |
41,807,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCTGCAACTAGAATACCAGCTATC -3'
(R):5'- GGCAAATTCCACAAGGCCAG -3'
Sequencing Primer
(F):5'- ACTAGAATACCAGCTATCATTTTGTC -3'
(R):5'- AGTCCAGTGTGCTCATATGAC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation