Incidental Mutation 'R4572:Gabrb2'
ID |
342210 |
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 |
041796-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.402)
|
Stock # |
R4572 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
42310584-42519855 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 42484744 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 267
(N267S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141868
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007797]
[ENSMUST00000192403]
|
AlphaFold |
P63137 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007797
AA Change: N267S
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000007797 Gene: ENSMUSG00000007653 AA Change: N267S
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 |
possibly damaging
Transcript: ENSMUST00000192403
AA Change: N267S
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000141868 Gene: ENSMUSG00000007653 AA Change: N267S
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 |
0.2822 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
100% (71/71) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
A |
T |
11: 110,107,374 (GRCm39) |
I747N |
probably benign |
Het |
Adamtsl2 |
A |
G |
2: 26,973,268 (GRCm39) |
Y97C |
probably damaging |
Het |
Alox12e |
A |
G |
11: 70,212,007 (GRCm39) |
|
probably benign |
Het |
Alpk2 |
A |
T |
18: 65,414,075 (GRCm39) |
S2014T |
probably damaging |
Het |
Ankrd36 |
A |
T |
11: 5,639,340 (GRCm39) |
|
probably null |
Het |
Apobec1 |
T |
C |
6: 122,558,356 (GRCm39) |
D133G |
probably damaging |
Het |
Arfgef1 |
A |
T |
1: 10,283,366 (GRCm39) |
I181N |
probably damaging |
Het |
Cilp2 |
A |
G |
8: 70,335,060 (GRCm39) |
V646A |
probably damaging |
Het |
Clasrp |
A |
G |
7: 19,318,389 (GRCm39) |
|
probably null |
Het |
Cnot2 |
T |
C |
10: 116,330,751 (GRCm39) |
T423A |
probably benign |
Het |
Crtap |
T |
C |
9: 114,213,874 (GRCm39) |
D227G |
probably benign |
Het |
Cyp17a1 |
A |
G |
19: 46,658,990 (GRCm39) |
F217S |
probably damaging |
Het |
Ddx60 |
A |
G |
8: 62,440,455 (GRCm39) |
M1036V |
probably damaging |
Het |
Dnah11 |
A |
T |
12: 117,973,860 (GRCm39) |
I2818N |
probably benign |
Het |
Dok6 |
T |
A |
18: 89,492,071 (GRCm39) |
I169F |
possibly damaging |
Het |
Duox2 |
T |
A |
2: 122,112,207 (GRCm39) |
R1326S |
probably benign |
Het |
Epha10 |
A |
G |
4: 124,796,361 (GRCm39) |
T357A |
unknown |
Het |
Ephb2 |
A |
C |
4: 136,383,251 (GRCm39) |
F942C |
probably damaging |
Het |
Fscn3 |
T |
A |
6: 28,430,634 (GRCm39) |
|
probably null |
Het |
Gabrr3 |
A |
T |
16: 59,282,001 (GRCm39) |
Y452F |
probably benign |
Het |
Gen1 |
A |
G |
12: 11,292,419 (GRCm39) |
S457P |
probably damaging |
Het |
Gm1993 |
C |
T |
X: 25,515,656 (GRCm39) |
R77H |
probably damaging |
Het |
Gm5592 |
G |
A |
7: 40,865,583 (GRCm39) |
|
probably benign |
Het |
Hmbox1 |
A |
G |
14: 65,140,682 (GRCm39) |
|
probably null |
Het |
Hus1 |
A |
T |
11: 8,957,617 (GRCm39) |
|
probably null |
Het |
Ino80 |
G |
A |
2: 119,232,839 (GRCm39) |
R1160W |
probably damaging |
Het |
Kalrn |
A |
T |
16: 34,212,412 (GRCm39) |
F27L |
probably damaging |
Het |
Kri1 |
A |
T |
9: 21,191,680 (GRCm39) |
F187L |
probably damaging |
Het |
Lekr1 |
A |
T |
3: 65,691,336 (GRCm39) |
|
noncoding transcript |
Het |
Mapk15 |
T |
C |
15: 75,870,599 (GRCm39) |
|
probably benign |
Het |
Mrgpre |
G |
A |
7: 143,334,841 (GRCm39) |
L221F |
probably damaging |
Het |
Mrpl50 |
A |
T |
4: 49,514,399 (GRCm39) |
S91T |
possibly damaging |
Het |
Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
Mup15 |
A |
G |
4: 61,356,454 (GRCm39) |
|
probably null |
Het |
Ncapd3 |
A |
G |
9: 27,005,911 (GRCm39) |
D1469G |
probably damaging |
Het |
Nlrp9b |
G |
A |
7: 19,760,606 (GRCm39) |
|
probably null |
Het |
Npy6r |
A |
T |
18: 44,408,984 (GRCm39) |
Y135F |
probably benign |
Het |
Or7e170 |
A |
C |
9: 19,795,275 (GRCm39) |
C109G |
probably benign |
Het |
Phf14 |
G |
A |
6: 12,006,823 (GRCm39) |
R825Q |
probably damaging |
Het |
Pigg |
A |
G |
5: 108,480,751 (GRCm39) |
M379V |
probably benign |
Het |
Plppr3 |
T |
A |
10: 79,701,897 (GRCm39) |
Q315L |
probably benign |
Het |
Plxnd1 |
C |
A |
6: 115,932,717 (GRCm39) |
C1921F |
probably damaging |
Het |
Ptger4 |
A |
C |
15: 5,272,614 (GRCm39) |
S2A |
probably benign |
Het |
Qrfprl |
A |
T |
6: 65,431,975 (GRCm39) |
M293L |
probably benign |
Het |
Rab4a |
A |
T |
8: 124,560,799 (GRCm39) |
D196V |
probably benign |
Het |
Rbck1 |
G |
A |
2: 152,160,653 (GRCm39) |
Q428* |
probably null |
Het |
Rgs14 |
A |
T |
13: 55,527,875 (GRCm39) |
N266I |
probably damaging |
Het |
Serpina1c |
A |
T |
12: 103,864,967 (GRCm39) |
|
probably benign |
Het |
Sesn3 |
G |
A |
9: 14,232,516 (GRCm39) |
R263H |
probably benign |
Het |
Slfn1 |
A |
T |
11: 83,012,289 (GRCm39) |
D135V |
probably benign |
Het |
Spata17 |
T |
C |
1: 186,926,193 (GRCm39) |
K46E |
possibly damaging |
Het |
Srcin1 |
A |
C |
11: 97,425,760 (GRCm39) |
D432E |
probably damaging |
Het |
Stxbp5 |
T |
C |
10: 9,713,888 (GRCm39) |
E217G |
probably damaging |
Het |
Terf2ip |
A |
G |
8: 112,738,649 (GRCm39) |
D179G |
probably damaging |
Het |
Tll1 |
A |
G |
8: 64,509,343 (GRCm39) |
F556L |
possibly damaging |
Het |
Tmed4 |
CTCTTTCT |
CTCT |
11: 6,224,461 (GRCm39) |
|
probably null |
Het |
Trappc9 |
G |
T |
15: 72,808,916 (GRCm39) |
Q537K |
possibly damaging |
Het |
Trim30a |
G |
T |
7: 104,060,395 (GRCm39) |
C460* |
probably null |
Het |
Trim35 |
T |
C |
14: 66,545,322 (GRCm39) |
Y298H |
probably damaging |
Het |
Ugt3a1 |
T |
A |
15: 9,306,479 (GRCm39) |
H209Q |
probably benign |
Het |
Ulk4 |
T |
C |
9: 121,021,830 (GRCm39) |
K627R |
probably damaging |
Het |
Wnk1 |
T |
C |
6: 119,928,872 (GRCm39) |
T1319A |
possibly damaging |
Het |
Wnt9b |
G |
A |
11: 103,622,981 (GRCm39) |
R141C |
probably damaging |
Het |
Zfp735 |
A |
G |
11: 73,580,611 (GRCm39) |
M37V |
probably benign |
Het |
Zmym1 |
A |
T |
4: 126,944,628 (GRCm39) |
N186K |
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 |
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 |
|
R5345:Gabrb2
|
UTSW |
11 |
42,517,636 (GRCm39) |
missense |
possibly damaging |
0.54 |
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'- TAAAACACCTGGGATCTCAGAC -3'
(R):5'- ACCGCAAAATTCTGTGTGAGG -3'
Sequencing Primer
(F):5'- CACCTGGGATCTCAGACTATATTTAC -3'
(R):5'- CCGCAAAATTCTGTGTGAGGAAAGG -3'
|
Posted On |
2015-09-24 |