Incidental Mutation 'R1557:Gabbr2'
ID |
170329 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gabbr2
|
Ensembl Gene |
ENSMUSG00000039809 |
Gene Name |
gamma-aminobutyric acid type B receptor subunit 2 |
Synonyms |
Gababr2, Gpr51, LOC242425, GB2 |
MMRRC Submission |
039596-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
R1557 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
46662318-46991714 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 46846436 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 158
(T158A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103378
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107749]
|
AlphaFold |
Q80T41 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107749
AA Change: T158A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103378 Gene: ENSMUSG00000039809 AA Change: T158A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
40 |
N/A |
INTRINSIC |
Pfam:Peripla_BP_6
|
59 |
434 |
1.5e-15 |
PFAM |
Pfam:ANF_receptor
|
75 |
429 |
2e-51 |
PFAM |
Pfam:7tm_3
|
492 |
745 |
6.4e-57 |
PFAM |
PDB:4PAS|B
|
778 |
818 |
1e-18 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206773
|
Meta Mutation Damage Score |
0.6374 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
Validation Efficiency |
96% (75/78) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This receptor subunit forms an active heterodimeric complex with GABA-B receptor subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicotine dependence.[provided by RefSeq, Jan 2010] PHENOTYPE: Homozygous mutation of this gene results in clonic seizures, hyperactivity, hyperalgesia in response to thermal or mechanical stimuli, increased anxiety, and decreased depression-related behavior. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019A02Rik |
A |
C |
1: 53,221,025 (GRCm39) |
D68E |
possibly damaging |
Het |
Abca3 |
T |
C |
17: 24,618,954 (GRCm39) |
V870A |
possibly damaging |
Het |
Aldh3a2 |
A |
T |
11: 61,139,885 (GRCm39) |
F416I |
probably damaging |
Het |
Armc6 |
A |
T |
8: 70,678,098 (GRCm39) |
L77Q |
possibly damaging |
Het |
Asb17 |
A |
G |
3: 153,556,570 (GRCm39) |
I226V |
probably benign |
Het |
Aspm |
A |
G |
1: 139,396,406 (GRCm39) |
I862V |
probably benign |
Het |
Atr |
T |
A |
9: 95,753,502 (GRCm39) |
D701E |
probably damaging |
Het |
Baz1b |
C |
T |
5: 135,247,097 (GRCm39) |
L849F |
possibly damaging |
Het |
Cbr1 |
T |
C |
16: 93,405,677 (GRCm39) |
V97A |
probably benign |
Het |
Cep295 |
G |
A |
9: 15,243,306 (GRCm39) |
Q1669* |
probably null |
Het |
Cfap54 |
T |
C |
10: 92,820,089 (GRCm39) |
T1242A |
possibly damaging |
Het |
Chrm3 |
T |
A |
13: 9,928,350 (GRCm39) |
T229S |
possibly damaging |
Het |
Cimip4 |
C |
A |
15: 78,270,474 (GRCm39) |
R98M |
probably damaging |
Het |
Cnga3 |
A |
G |
1: 37,300,066 (GRCm39) |
Y300C |
probably damaging |
Het |
Col14a1 |
A |
C |
15: 55,251,975 (GRCm39) |
I544L |
unknown |
Het |
Crocc |
T |
C |
4: 140,752,776 (GRCm39) |
E1208G |
probably damaging |
Het |
Cyp2j8 |
A |
T |
4: 96,358,713 (GRCm39) |
|
probably benign |
Het |
Dcbld2 |
T |
C |
16: 58,285,713 (GRCm39) |
I624T |
possibly damaging |
Het |
Ddah1 |
A |
C |
3: 145,597,227 (GRCm39) |
I258L |
probably benign |
Het |
Dnah6 |
G |
A |
6: 73,026,114 (GRCm39) |
Q3460* |
probably null |
Het |
Dync2h1 |
T |
A |
9: 7,140,911 (GRCm39) |
D1372V |
probably damaging |
Het |
Egln1 |
G |
A |
8: 125,674,980 (GRCm39) |
R272* |
probably null |
Het |
Elf1 |
A |
G |
14: 79,804,620 (GRCm39) |
D95G |
possibly damaging |
Het |
Fkbp5 |
A |
G |
17: 28,621,729 (GRCm39) |
F374L |
probably damaging |
Het |
Fli1 |
T |
C |
9: 32,372,540 (GRCm39) |
|
probably benign |
Het |
Gp2 |
A |
C |
7: 119,049,302 (GRCm39) |
Y412D |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,610,283 (GRCm39) |
V1462A |
possibly damaging |
Het |
Ide |
T |
C |
19: 37,258,160 (GRCm39) |
|
probably null |
Het |
Kalrn |
T |
C |
16: 34,134,648 (GRCm39) |
K372R |
possibly damaging |
Het |
Kcnj16 |
A |
G |
11: 110,916,067 (GRCm39) |
D243G |
possibly damaging |
Het |
Kif7 |
A |
G |
7: 79,363,905 (GRCm39) |
M1T |
probably null |
Het |
Klri2 |
A |
T |
6: 129,709,174 (GRCm39) |
L226Q |
probably damaging |
Het |
Kremen1 |
T |
C |
11: 5,165,373 (GRCm39) |
|
probably null |
Het |
Lama3 |
T |
C |
18: 12,646,788 (GRCm39) |
|
probably benign |
Het |
Lmln |
C |
A |
16: 32,908,581 (GRCm39) |
R336S |
probably benign |
Het |
Lrch4 |
T |
A |
5: 137,635,818 (GRCm39) |
D266E |
probably benign |
Het |
Lrrc28 |
C |
T |
7: 67,209,677 (GRCm39) |
R174H |
probably damaging |
Het |
Mib1 |
T |
A |
18: 10,798,474 (GRCm39) |
D778E |
probably damaging |
Het |
Msra |
T |
C |
14: 64,360,775 (GRCm39) |
I125V |
possibly damaging |
Het |
Or10c1 |
A |
G |
17: 37,522,244 (GRCm39) |
F167L |
probably damaging |
Het |
Or4k37 |
T |
A |
2: 111,158,964 (GRCm39) |
S67T |
probably damaging |
Het |
Or4p19 |
A |
T |
2: 88,242,555 (GRCm39) |
V149E |
possibly damaging |
Het |
Or52e18 |
A |
G |
7: 104,609,747 (GRCm39) |
F64S |
probably damaging |
Het |
Or6c75 |
C |
A |
10: 129,337,491 (GRCm39) |
T246N |
probably damaging |
Het |
Or8d23 |
A |
G |
9: 38,841,955 (GRCm39) |
M163V |
possibly damaging |
Het |
Pes1 |
T |
A |
11: 3,926,824 (GRCm39) |
Y369N |
probably damaging |
Het |
Pgam2 |
T |
C |
11: 5,751,773 (GRCm39) |
D221G |
possibly damaging |
Het |
Prl2c5 |
T |
C |
13: 13,365,265 (GRCm39) |
V137A |
possibly damaging |
Het |
Rasal1 |
T |
A |
5: 120,814,914 (GRCm39) |
D721E |
possibly damaging |
Het |
Sass6 |
G |
T |
3: 116,412,381 (GRCm39) |
E385D |
possibly damaging |
Het |
Sema5a |
A |
G |
15: 32,460,418 (GRCm39) |
R60G |
probably benign |
Het |
Sesn1 |
T |
C |
10: 41,779,762 (GRCm39) |
S399P |
probably damaging |
Het |
Skic2 |
G |
A |
17: 35,067,398 (GRCm39) |
L47F |
probably damaging |
Het |
Slc10a2 |
C |
T |
8: 5,141,755 (GRCm39) |
V210M |
probably damaging |
Het |
Slc8a3 |
C |
T |
12: 81,362,331 (GRCm39) |
G163S |
probably damaging |
Het |
Sorbs2 |
T |
C |
8: 46,212,234 (GRCm39) |
|
probably benign |
Het |
Speer4f1 |
T |
C |
5: 17,684,490 (GRCm39) |
W173R |
probably damaging |
Het |
Spon2 |
C |
A |
5: 33,374,108 (GRCm39) |
G92W |
probably damaging |
Het |
Sycp2 |
A |
T |
2: 178,037,009 (GRCm39) |
|
probably benign |
Het |
Tfb1m |
A |
G |
17: 3,605,241 (GRCm39) |
V84A |
probably damaging |
Het |
Tmem18 |
G |
T |
12: 30,637,198 (GRCm39) |
|
probably null |
Het |
Tom1l1 |
A |
G |
11: 90,547,210 (GRCm39) |
L290S |
possibly damaging |
Het |
Tube1 |
T |
G |
10: 39,021,711 (GRCm39) |
|
probably null |
Het |
Ugt2b35 |
T |
A |
5: 87,155,156 (GRCm39) |
|
probably null |
Het |
Unc93b1 |
T |
A |
19: 3,992,403 (GRCm39) |
Y269N |
probably benign |
Het |
Usp16 |
T |
C |
16: 87,259,030 (GRCm39) |
|
probably null |
Het |
Vmn1r38 |
A |
T |
6: 66,753,370 (GRCm39) |
S249T |
probably benign |
Het |
Vmn1r42 |
T |
A |
6: 89,821,733 (GRCm39) |
M279L |
possibly damaging |
Het |
Zdhhc23 |
T |
A |
16: 43,791,829 (GRCm39) |
T315S |
possibly damaging |
Het |
Zfp472 |
T |
C |
17: 33,194,900 (GRCm39) |
F12L |
probably benign |
Het |
Zfr2 |
T |
C |
10: 81,083,225 (GRCm39) |
S634P |
probably benign |
Het |
|
Other mutations in Gabbr2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00337:Gabbr2
|
APN |
4 |
46,787,600 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00844:Gabbr2
|
APN |
4 |
46,875,711 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01584:Gabbr2
|
APN |
4 |
46,674,524 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01684:Gabbr2
|
APN |
4 |
46,736,501 (GRCm39) |
missense |
probably benign |
|
IGL01884:Gabbr2
|
APN |
4 |
46,875,711 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02073:Gabbr2
|
APN |
4 |
46,667,547 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02376:Gabbr2
|
APN |
4 |
46,684,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R0194:Gabbr2
|
UTSW |
4 |
46,787,565 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0627:Gabbr2
|
UTSW |
4 |
46,681,223 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0685:Gabbr2
|
UTSW |
4 |
46,787,521 (GRCm39) |
missense |
possibly damaging |
0.64 |
R0781:Gabbr2
|
UTSW |
4 |
46,718,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R0882:Gabbr2
|
UTSW |
4 |
46,718,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R0883:Gabbr2
|
UTSW |
4 |
46,677,474 (GRCm39) |
missense |
probably benign |
0.00 |
R1004:Gabbr2
|
UTSW |
4 |
46,677,544 (GRCm39) |
missense |
possibly damaging |
0.60 |
R1078:Gabbr2
|
UTSW |
4 |
46,664,833 (GRCm39) |
missense |
probably damaging |
0.99 |
R1110:Gabbr2
|
UTSW |
4 |
46,718,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R1368:Gabbr2
|
UTSW |
4 |
46,674,464 (GRCm39) |
missense |
probably benign |
0.31 |
R1577:Gabbr2
|
UTSW |
4 |
46,684,319 (GRCm39) |
missense |
probably benign |
0.29 |
R1645:Gabbr2
|
UTSW |
4 |
46,664,963 (GRCm39) |
splice site |
probably null |
|
R1743:Gabbr2
|
UTSW |
4 |
46,677,603 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1848:Gabbr2
|
UTSW |
4 |
46,739,823 (GRCm39) |
missense |
probably benign |
0.31 |
R1997:Gabbr2
|
UTSW |
4 |
46,787,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R2009:Gabbr2
|
UTSW |
4 |
46,734,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R4021:Gabbr2
|
UTSW |
4 |
46,846,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R4719:Gabbr2
|
UTSW |
4 |
46,718,797 (GRCm39) |
missense |
probably damaging |
0.99 |
R4757:Gabbr2
|
UTSW |
4 |
46,875,675 (GRCm39) |
missense |
probably damaging |
0.98 |
R4798:Gabbr2
|
UTSW |
4 |
46,991,139 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5086:Gabbr2
|
UTSW |
4 |
46,724,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R5176:Gabbr2
|
UTSW |
4 |
46,681,208 (GRCm39) |
missense |
probably damaging |
0.99 |
R5451:Gabbr2
|
UTSW |
4 |
46,684,294 (GRCm39) |
missense |
probably benign |
0.15 |
R5510:Gabbr2
|
UTSW |
4 |
46,734,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R5611:Gabbr2
|
UTSW |
4 |
46,804,105 (GRCm39) |
missense |
probably damaging |
0.98 |
R6049:Gabbr2
|
UTSW |
4 |
46,787,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R6089:Gabbr2
|
UTSW |
4 |
46,846,448 (GRCm39) |
missense |
probably damaging |
1.00 |
R6118:Gabbr2
|
UTSW |
4 |
46,736,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R6209:Gabbr2
|
UTSW |
4 |
46,804,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R6212:Gabbr2
|
UTSW |
4 |
46,681,189 (GRCm39) |
missense |
probably damaging |
0.98 |
R6717:Gabbr2
|
UTSW |
4 |
46,787,574 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7339:Gabbr2
|
UTSW |
4 |
46,846,340 (GRCm39) |
missense |
probably benign |
0.01 |
R7479:Gabbr2
|
UTSW |
4 |
46,681,166 (GRCm39) |
missense |
probably damaging |
0.98 |
R7695:Gabbr2
|
UTSW |
4 |
46,875,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R7808:Gabbr2
|
UTSW |
4 |
46,875,744 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7832:Gabbr2
|
UTSW |
4 |
46,734,096 (GRCm39) |
missense |
probably benign |
0.04 |
R7993:Gabbr2
|
UTSW |
4 |
46,736,349 (GRCm39) |
splice site |
probably null |
|
R7994:Gabbr2
|
UTSW |
4 |
46,736,349 (GRCm39) |
splice site |
probably null |
|
R8051:Gabbr2
|
UTSW |
4 |
46,736,349 (GRCm39) |
splice site |
probably null |
|
R8084:Gabbr2
|
UTSW |
4 |
46,736,349 (GRCm39) |
splice site |
probably null |
|
R9050:Gabbr2
|
UTSW |
4 |
46,798,659 (GRCm39) |
missense |
probably benign |
0.03 |
R9187:Gabbr2
|
UTSW |
4 |
46,674,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R9622:Gabbr2
|
UTSW |
4 |
46,724,283 (GRCm39) |
critical splice donor site |
probably null |
|
R9655:Gabbr2
|
UTSW |
4 |
46,815,684 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Predicted Primers |
PCR Primer
(F):5'- CAATCCCATTTAAAACGTGGGCTGG -3'
(R):5'- CCTTGCTTACACGGGAAACCCATC -3'
Sequencing Primer
(F):5'- TTCAGCAGCTTCAGGATTGC -3'
(R):5'- gctcacatctgcctgtaactc -3'
|
Posted On |
2014-04-13 |