Incidental Mutation 'R6930:Gabrb2'
| ID |
539966 |
| 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 |
045046-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.402)
|
| Stock # |
R6930 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
42310584-42519855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42488440 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 302
(V302A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141868
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007797]
[ENSMUST00000192403]
|
| AlphaFold |
P63137 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007797
AA Change: V302A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000007797
Gene: ENSMUSG00000007653
AA Change: V302A
| 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 damaging
Transcript: ENSMUST00000192403
AA Change: V302A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141868
Gene: ENSMUSG00000007653
AA Change: V302A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.5%
|
| Validation Efficiency |
100% (63/63) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
A |
T |
11: 23,466,563 (GRCm39) |
D156E |
probably benign |
Het |
| Adam17 |
A |
T |
12: 21,403,949 (GRCm39) |
V99E |
probably damaging |
Het |
| Akr1e1 |
T |
C |
13: 4,652,714 (GRCm39) |
D41G |
probably damaging |
Het |
| Alcam |
T |
C |
16: 52,126,018 (GRCm39) |
I100V |
probably benign |
Het |
| Atr |
T |
C |
9: 95,748,688 (GRCm39) |
I411T |
probably benign |
Het |
| Bbs4 |
T |
C |
9: 59,230,764 (GRCm39) |
S453G |
probably benign |
Het |
| Brdt |
C |
T |
5: 107,507,081 (GRCm39) |
L494F |
probably benign |
Het |
| Ccser1 |
T |
C |
6: 62,357,009 (GRCm39) |
S816P |
probably benign |
Het |
| Cdk10 |
T |
C |
8: 123,957,347 (GRCm39) |
I157T |
probably damaging |
Het |
| Ceacam5 |
G |
A |
7: 17,484,759 (GRCm39) |
|
probably null |
Het |
| Chst15 |
T |
C |
7: 131,870,759 (GRCm39) |
I259V |
possibly damaging |
Het |
| Cracdl |
A |
T |
1: 37,664,026 (GRCm39) |
I624N |
possibly damaging |
Het |
| Csmd1 |
A |
T |
8: 16,142,409 (GRCm39) |
M1498K |
probably damaging |
Het |
| D630045J12Rik |
T |
C |
6: 38,135,151 (GRCm39) |
D1343G |
probably damaging |
Het |
| Denr |
T |
C |
5: 124,046,250 (GRCm39) |
Y27H |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,413,825 (GRCm39) |
|
probably null |
Het |
| Epg5 |
T |
C |
18: 78,057,378 (GRCm39) |
F1819S |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,108,642 (GRCm39) |
Y223* |
probably null |
Het |
| Fry |
T |
C |
5: 150,351,695 (GRCm39) |
L1733P |
probably benign |
Het |
| Gimap9 |
G |
A |
6: 48,654,601 (GRCm39) |
D53N |
probably damaging |
Het |
| Gje1 |
G |
T |
10: 14,593,886 (GRCm39) |
L3I |
possibly damaging |
Het |
| Gm49383 |
G |
T |
12: 69,239,586 (GRCm39) |
A645E |
probably damaging |
Het |
| Gm8947 |
G |
A |
1: 151,068,347 (GRCm39) |
G60D |
probably damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Gys2 |
A |
G |
6: 142,405,106 (GRCm39) |
|
probably null |
Het |
| Hace1 |
A |
G |
10: 45,494,598 (GRCm39) |
H136R |
probably damaging |
Het |
| Herc3 |
T |
G |
6: 58,893,444 (GRCm39) |
V902G |
probably damaging |
Het |
| Hspbp1 |
T |
C |
7: 4,687,606 (GRCm39) |
R2G |
probably benign |
Het |
| Iqch |
T |
A |
9: 63,387,856 (GRCm39) |
K811N |
possibly damaging |
Het |
| Kmt2a |
A |
G |
9: 44,753,962 (GRCm39) |
|
probably benign |
Het |
| Lonrf2 |
A |
T |
1: 38,843,417 (GRCm39) |
V372D |
probably benign |
Het |
| Lpin2 |
T |
C |
17: 71,551,786 (GRCm39) |
Y729H |
probably damaging |
Het |
| Lrrc32 |
A |
G |
7: 98,148,471 (GRCm39) |
N417S |
possibly damaging |
Het |
| Malrd1 |
T |
A |
2: 15,802,478 (GRCm39) |
C1064S |
unknown |
Het |
| Mast3 |
G |
A |
8: 71,252,115 (GRCm39) |
R20* |
probably null |
Het |
| Mypn |
A |
C |
10: 62,952,718 (GRCm39) |
I174S |
probably damaging |
Het |
| Nrg1 |
G |
A |
8: 32,308,534 (GRCm39) |
T505M |
probably damaging |
Het |
| Or13p8 |
A |
G |
4: 118,584,338 (GRCm39) |
K298R |
probably damaging |
Het |
| Or6y1 |
A |
G |
1: 174,276,677 (GRCm39) |
I163V |
probably damaging |
Het |
| Or7a42 |
A |
G |
10: 78,791,615 (GRCm39) |
D192G |
possibly damaging |
Het |
| Or7e178 |
A |
G |
9: 20,225,395 (GRCm39) |
Y266H |
probably damaging |
Het |
| Phf3 |
T |
C |
1: 30,850,958 (GRCm39) |
E1132G |
probably damaging |
Het |
| Pla2g4d |
A |
T |
2: 120,101,114 (GRCm39) |
M521K |
probably damaging |
Het |
| Plekhg1 |
A |
G |
10: 3,913,770 (GRCm39) |
H1164R |
possibly damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,044,592 (GRCm39) |
V1218A |
probably benign |
Het |
| Pold1 |
A |
G |
7: 44,191,630 (GRCm39) |
S119P |
probably benign |
Het |
| Pole |
T |
A |
5: 110,441,156 (GRCm39) |
D203E |
probably benign |
Het |
| Rapgefl1 |
T |
A |
11: 98,737,947 (GRCm39) |
L387Q |
probably damaging |
Het |
| Rbm33 |
T |
C |
5: 28,557,504 (GRCm39) |
I199T |
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Rufy1 |
C |
A |
11: 50,289,207 (GRCm39) |
R545L |
probably benign |
Het |
| Ryr3 |
T |
A |
2: 112,690,699 (GRCm39) |
D1117V |
probably damaging |
Het |
| Sap130 |
T |
C |
18: 31,815,141 (GRCm39) |
V621A |
possibly damaging |
Het |
| Sparcl1 |
T |
A |
5: 104,234,940 (GRCm39) |
Y525F |
probably damaging |
Het |
| Spon2 |
A |
G |
5: 33,373,771 (GRCm39) |
V180A |
probably benign |
Het |
| Trav10n |
G |
A |
14: 53,359,947 (GRCm39) |
V75M |
probably benign |
Het |
| Ttc34 |
T |
C |
4: 154,923,543 (GRCm39) |
L84P |
probably damaging |
Het |
| Vmn1r23 |
C |
T |
6: 57,903,130 (GRCm39) |
R216K |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 41,949,364 (GRCm39) |
T595A |
probably benign |
Het |
| Vmn2r66 |
T |
A |
7: 84,661,216 (GRCm39) |
I5F |
possibly damaging |
Het |
| Zfp879 |
C |
T |
11: 50,723,839 (GRCm39) |
G406R |
probably damaging |
Het |
| Zic2 |
A |
T |
14: 122,713,869 (GRCm39) |
D261V |
probably damaging |
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 |
|
|
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 |
|
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'- TTCCAGGAAGGGTCACTAGG -3'
(R):5'- TACCTTGTTGACATCCAGGC -3'
Sequencing Primer
(F):5'- GGGTCACTAGGCAGATTTACAAC -3'
(R):5'- TGTTGACATCCAGGCGCATC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation