Incidental Mutation 'R5345:Gabrb2'
| ID |
422569 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gabrb2
|
| Ensembl Gene |
ENSMUSG00000007653 |
| Gene Name |
gamma-aminobutyric acid type A receptor subunit beta 2 |
| Synonyms |
C030021G16Rik, Gabrb-2, C030002O17Rik |
| MMRRC Submission |
042924-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.473)
|
| Stock # |
R5345 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
42310584-42519855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 42517636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 448
(A448V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007797]
[ENSMUST00000192403]
|
| AlphaFold |
P63137 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007797
AA Change: A448V
PolyPhen 2
Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000007797
Gene: ENSMUSG00000007653
AA Change: A448V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
36 |
242 |
8.7e-52 |
PFAM |
|
Pfam:Neur_chan_memb
|
249 |
469 |
7.5e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192403
AA Change: A486V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000141868
Gene: ENSMUSG00000007653
AA Change: A486V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
36 |
242 |
1.1e-54 |
PFAM |
|
Pfam:Neur_chan_memb
|
249 |
507 |
6.6e-55 |
PFAM |
|
| Meta Mutation Damage Score |
0.0621 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
98% (65/66) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show hyperactivity and abnormal GABA-mediated receptor currents. Homozygotes for a derivative of this allele show a sexually dimorphic cochlear phenotype associated with OHC dysfunction. Homozygotes for a knock-in allele show altered behavioral response to etomidate. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted, knock-out(2) Targeted, other(1) Gene trapped(1) |
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
T |
A |
2: 31,687,059 (GRCm39) |
S519T |
probably damaging |
Het |
| Acap2 |
A |
G |
16: 30,926,944 (GRCm39) |
S524P |
probably benign |
Het |
| Acot1 |
T |
A |
12: 84,063,942 (GRCm39) |
I350N |
probably damaging |
Het |
| Adam8 |
A |
G |
7: 139,567,552 (GRCm39) |
V397A |
probably benign |
Het |
| Ankar |
A |
G |
1: 72,709,310 (GRCm39) |
M735T |
possibly damaging |
Het |
| Cacna1c |
A |
G |
6: 118,633,497 (GRCm39) |
|
probably null |
Het |
| Cdc25b |
A |
G |
2: 131,034,516 (GRCm39) |
S222G |
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,709,323 (GRCm39) |
S1390P |
probably damaging |
Het |
| Clca4a |
T |
G |
3: 144,676,222 (GRCm39) |
D104A |
probably damaging |
Het |
| Clcn6 |
A |
T |
4: 148,123,206 (GRCm39) |
|
probably benign |
Het |
| Coq8b |
A |
G |
7: 26,949,773 (GRCm39) |
T320A |
probably benign |
Het |
| Cspg5 |
A |
T |
9: 110,075,698 (GRCm39) |
M145L |
probably benign |
Het |
| Cyp2c67 |
T |
A |
19: 39,614,676 (GRCm39) |
I284F |
probably benign |
Het |
| Eya4 |
T |
C |
10: 22,985,947 (GRCm39) |
I565V |
probably benign |
Het |
| Fbxw11 |
A |
G |
11: 32,688,471 (GRCm39) |
N410S |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,402,037 (GRCm39) |
D375G |
possibly damaging |
Het |
| Itsn2 |
T |
C |
12: 4,722,783 (GRCm39) |
V1073A |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,613,078 (GRCm39) |
T139A |
probably benign |
Het |
| L1td1 |
G |
A |
4: 98,624,684 (GRCm39) |
G293D |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,124,558 (GRCm39) |
M2873V |
probably benign |
Het |
| Msantd5f6 |
A |
T |
4: 73,319,514 (GRCm39) |
W77R |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,388,364 (GRCm39) |
R1960G |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,367,369 (GRCm39) |
|
probably null |
Het |
| Ndufb4 |
A |
G |
16: 37,474,540 (GRCm39) |
|
probably null |
Het |
| Nup153 |
A |
T |
13: 46,840,341 (GRCm39) |
L1089* |
probably null |
Het |
| Or10g3 |
G |
A |
14: 52,609,725 (GRCm39) |
R262* |
probably null |
Het |
| Or2l13b |
T |
A |
16: 19,349,527 (GRCm39) |
I48F |
probably damaging |
Het |
| Or5aq1b |
A |
G |
2: 86,901,836 (GRCm39) |
V214A |
possibly damaging |
Het |
| P2rx1 |
A |
G |
11: 72,900,056 (GRCm39) |
T158A |
probably damaging |
Het |
| Park7 |
A |
G |
4: 150,992,880 (GRCm39) |
|
probably benign |
Het |
| Parl |
A |
T |
16: 20,116,892 (GRCm39) |
F102I |
probably damaging |
Het |
| Plxnc1 |
T |
A |
10: 94,685,831 (GRCm39) |
H720L |
probably benign |
Het |
| Ptpn4 |
A |
G |
1: 119,693,207 (GRCm39) |
S140P |
probably benign |
Het |
| Rel |
A |
G |
11: 23,692,462 (GRCm39) |
S524P |
probably benign |
Het |
| Ripply2 |
A |
G |
9: 86,901,779 (GRCm39) |
|
probably null |
Het |
| Rmc1 |
C |
T |
18: 12,312,234 (GRCm39) |
T158M |
probably benign |
Het |
| Rps4l-ps |
T |
C |
7: 114,526,433 (GRCm39) |
|
noncoding transcript |
Het |
| Rtn4ip1 |
T |
C |
10: 43,808,466 (GRCm39) |
L81P |
probably damaging |
Het |
| Sap130 |
T |
C |
18: 31,781,251 (GRCm39) |
L138P |
probably benign |
Het |
| Scp2 |
A |
T |
4: 107,912,776 (GRCm39) |
|
probably null |
Het |
| Sec24c |
T |
A |
14: 20,743,288 (GRCm39) |
M970K |
probably benign |
Het |
| Setd5 |
C |
T |
6: 113,092,968 (GRCm39) |
P340L |
probably damaging |
Het |
| Sgcg |
A |
T |
14: 61,483,218 (GRCm39) |
M61K |
probably damaging |
Het |
| Slc22a27 |
C |
G |
19: 7,843,303 (GRCm39) |
A359P |
probably damaging |
Het |
| Slc34a1 |
A |
G |
13: 55,548,331 (GRCm39) |
R21G |
probably benign |
Het |
| Slc7a14 |
A |
C |
3: 31,278,006 (GRCm39) |
L533W |
probably damaging |
Het |
| Srsf9 |
A |
G |
5: 115,468,595 (GRCm39) |
D77G |
probably benign |
Het |
| Tab1 |
A |
T |
15: 80,034,014 (GRCm39) |
E119V |
possibly damaging |
Het |
| Tcstv5 |
A |
T |
13: 120,411,384 (GRCm39) |
V74E |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,614,113 (GRCm39) |
A757V |
possibly damaging |
Het |
| Tradd |
A |
T |
8: 105,986,556 (GRCm39) |
I72N |
probably damaging |
Het |
| Trbv12-1 |
C |
T |
6: 41,090,781 (GRCm39) |
T51M |
probably benign |
Het |
| Tsga10 |
T |
C |
1: 37,802,392 (GRCm39) |
K605E |
probably damaging |
Het |
| Vwc2l |
A |
G |
1: 70,768,077 (GRCm39) |
D47G |
probably damaging |
Het |
| Zfp647 |
T |
A |
15: 76,795,695 (GRCm39) |
T322S |
possibly damaging |
Het |
| Zscan20 |
A |
C |
4: 128,481,914 (GRCm39) |
S583A |
probably benign |
Het |
|
| Other mutations in Gabrb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02275:Gabrb2
|
APN |
11 |
42,482,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02666:Gabrb2
|
APN |
11 |
42,420,322 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02983:Gabrb2
|
APN |
11 |
42,312,227 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03357:Gabrb2
|
APN |
11 |
42,482,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H2330:Gabrb2
|
UTSW |
11 |
42,312,258 (GRCm39) |
splice site |
probably benign |
|
|
R0049:Gabrb2
|
UTSW |
11 |
42,484,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Gabrb2
|
UTSW |
11 |
42,484,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0100:Gabrb2
|
UTSW |
11 |
42,378,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1423:Gabrb2
|
UTSW |
11 |
42,420,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1526:Gabrb2
|
UTSW |
11 |
42,482,715 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1856:Gabrb2
|
UTSW |
11 |
42,517,540 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1898:Gabrb2
|
UTSW |
11 |
42,484,659 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2184:Gabrb2
|
UTSW |
11 |
42,312,255 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2371:Gabrb2
|
UTSW |
11 |
42,482,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2915:Gabrb2
|
UTSW |
11 |
42,482,734 (GRCm39) |
missense |
probably benign |
|
|
R2993:Gabrb2
|
UTSW |
11 |
42,488,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3951:Gabrb2
|
UTSW |
11 |
42,517,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4167:Gabrb2
|
UTSW |
11 |
42,312,155 (GRCm39) |
unclassified |
probably benign |
|
|
R4168:Gabrb2
|
UTSW |
11 |
42,312,155 (GRCm39) |
unclassified |
probably benign |
|
|
R4497:Gabrb2
|
UTSW |
11 |
42,488,521 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4572:Gabrb2
|
UTSW |
11 |
42,484,744 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4784:Gabrb2
|
UTSW |
11 |
42,488,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4792:Gabrb2
|
UTSW |
11 |
42,420,330 (GRCm39) |
splice site |
probably benign |
|
|
R5346:Gabrb2
|
UTSW |
11 |
42,312,216 (GRCm39) |
missense |
probably benign |
|
|
R5575:Gabrb2
|
UTSW |
11 |
42,420,365 (GRCm39) |
intron |
probably benign |
|
|
R5701:Gabrb2
|
UTSW |
11 |
42,378,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5801:Gabrb2
|
UTSW |
11 |
42,312,216 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5965:Gabrb2
|
UTSW |
11 |
42,517,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6738:Gabrb2
|
UTSW |
11 |
42,484,758 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6930:Gabrb2
|
UTSW |
11 |
42,488,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7011:Gabrb2
|
UTSW |
11 |
42,517,488 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7045:Gabrb2
|
UTSW |
11 |
42,484,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7615:Gabrb2
|
UTSW |
11 |
42,517,569 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7653:Gabrb2
|
UTSW |
11 |
42,378,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7866:Gabrb2
|
UTSW |
11 |
42,378,050 (GRCm39) |
nonsense |
probably null |
|
|
R8094:Gabrb2
|
UTSW |
11 |
42,488,370 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8402:Gabrb2
|
UTSW |
11 |
42,378,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8488:Gabrb2
|
UTSW |
11 |
42,517,491 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8851:Gabrb2
|
UTSW |
11 |
42,312,186 (GRCm39) |
missense |
probably benign |
|
|
R9123:Gabrb2
|
UTSW |
11 |
42,482,693 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9125:Gabrb2
|
UTSW |
11 |
42,482,693 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9186:Gabrb2
|
UTSW |
11 |
42,378,200 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9672:Gabrb2
|
UTSW |
11 |
42,312,207 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9746:Gabrb2
|
UTSW |
11 |
42,517,436 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF008:Gabrb2
|
UTSW |
11 |
42,517,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Gabrb2
|
UTSW |
11 |
42,313,473 (GRCm39) |
missense |
probably benign |
0.26 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGCTTGCCTATGATGCCTC -3'
(R):5'- CCCAAATGGTATGAAATGGACCAC -3'
Sequencing Primer
(F):5'- GCCTCCAGCATCCAGTATCG -3'
(R):5'- GGCCAGCAACTAAGGTATTTTAAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation