Incidental Mutation 'R5451:Gabbr2'
ID |
434574 |
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 |
043016-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
R5451 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
46662318-46991714 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 46684294 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 660
(Y660F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103378
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107749]
[ENSMUST00000205643]
|
AlphaFold |
Q80T41 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107749
AA Change: Y660F
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000103378 Gene: ENSMUSG00000039809 AA Change: Y660F
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: ENSMUST00000129328
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205643
|
Meta Mutation Damage Score |
0.1607 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
96% (52/54) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
G |
1: 71,334,076 (GRCm39) |
F1142S |
possibly damaging |
Het |
Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
Calhm2 |
T |
A |
19: 47,121,314 (GRCm39) |
Y285F |
possibly damaging |
Het |
Casr |
T |
C |
16: 36,330,270 (GRCm39) |
T355A |
probably damaging |
Het |
Ccnq |
T |
A |
11: 78,642,115 (GRCm39) |
Q125L |
possibly damaging |
Het |
Clca3a1 |
T |
C |
3: 144,733,747 (GRCm39) |
Y63C |
probably damaging |
Het |
Cntnap5a |
T |
C |
1: 115,612,873 (GRCm39) |
S3P |
probably benign |
Het |
Col27a1 |
G |
A |
4: 63,143,476 (GRCm39) |
G388D |
probably damaging |
Het |
Cwh43 |
T |
C |
5: 73,589,256 (GRCm39) |
M447T |
probably benign |
Het |
Dnah7b |
G |
A |
1: 46,281,179 (GRCm39) |
G2747S |
possibly damaging |
Het |
Fbxo7 |
A |
G |
10: 85,864,901 (GRCm39) |
S51G |
probably benign |
Het |
Galnt15 |
A |
G |
14: 31,751,868 (GRCm39) |
E140G |
probably benign |
Het |
Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
Gsap |
T |
A |
5: 21,422,445 (GRCm39) |
L138Q |
probably damaging |
Het |
Igflr1 |
A |
G |
7: 30,265,747 (GRCm39) |
N57S |
possibly damaging |
Het |
Ighv13-2 |
A |
G |
12: 114,321,473 (GRCm39) |
F89L |
probably damaging |
Het |
Irf2bpl |
A |
G |
12: 86,928,846 (GRCm39) |
V609A |
probably benign |
Het |
Jkampl |
A |
G |
6: 73,445,850 (GRCm39) |
V233A |
probably benign |
Het |
Lingo1 |
T |
G |
9: 56,527,711 (GRCm39) |
I293L |
probably damaging |
Het |
Lrrc14 |
A |
G |
15: 76,598,173 (GRCm39) |
D301G |
probably benign |
Het |
Lsm2 |
T |
C |
17: 35,201,185 (GRCm39) |
|
probably benign |
Het |
Map4 |
C |
T |
9: 109,866,851 (GRCm39) |
|
probably benign |
Het |
Micall1 |
T |
A |
15: 79,011,104 (GRCm39) |
|
probably null |
Het |
Mpp7 |
T |
C |
18: 7,442,855 (GRCm39) |
D156G |
probably null |
Het |
Mybbp1a |
A |
G |
11: 72,338,939 (GRCm39) |
D822G |
probably damaging |
Het |
Naip2 |
A |
G |
13: 100,325,368 (GRCm39) |
V180A |
probably benign |
Het |
Nol10 |
T |
A |
12: 17,409,103 (GRCm39) |
Y159* |
probably null |
Het |
Nphp3 |
A |
G |
9: 103,919,221 (GRCm39) |
T1290A |
probably benign |
Het |
Or12e1 |
T |
A |
2: 87,022,796 (GRCm39) |
V255E |
probably damaging |
Het |
Or5aq1b |
T |
C |
2: 86,902,341 (GRCm39) |
I46V |
probably damaging |
Het |
Or7g20 |
T |
C |
9: 18,946,787 (GRCm39) |
Y123H |
probably damaging |
Het |
Pcsk5 |
T |
A |
19: 17,440,720 (GRCm39) |
Y1290F |
possibly damaging |
Het |
Rab42 |
T |
C |
4: 132,029,827 (GRCm39) |
N132D |
probably benign |
Het |
Rfx3 |
T |
G |
19: 27,827,359 (GRCm39) |
T76P |
probably damaging |
Het |
Rps13-ps2 |
G |
T |
7: 88,180,036 (GRCm39) |
|
noncoding transcript |
Het |
Slc12a3 |
A |
G |
8: 95,083,655 (GRCm39) |
D894G |
possibly damaging |
Het |
Slc25a15 |
G |
A |
8: 22,879,983 (GRCm39) |
T54I |
probably benign |
Het |
Slco1c1 |
A |
T |
6: 141,505,604 (GRCm39) |
Q461L |
probably benign |
Het |
Slfn5 |
T |
G |
11: 82,850,912 (GRCm39) |
I403R |
probably damaging |
Het |
Srxn1 |
G |
A |
2: 151,947,799 (GRCm39) |
V66M |
probably damaging |
Het |
Tbc1d32 |
T |
A |
10: 56,071,571 (GRCm39) |
T318S |
possibly damaging |
Het |
Tiam2 |
G |
T |
17: 3,479,271 (GRCm39) |
R668M |
probably damaging |
Het |
Tle7 |
A |
T |
8: 110,836,503 (GRCm39) |
I160F |
probably damaging |
Het |
Trgj4 |
G |
T |
13: 19,526,335 (GRCm39) |
|
probably benign |
Het |
Trim9 |
A |
G |
12: 70,393,603 (GRCm39) |
S114P |
probably benign |
Het |
Trp53i11 |
T |
C |
2: 93,030,200 (GRCm39) |
L169P |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Vmn1r190-ps |
A |
G |
13: 22,328,901 (GRCm39) |
|
noncoding transcript |
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 |
R1557:Gabbr2
|
UTSW |
4 |
46,846,436 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- ACACAGCCATGCATCAGGAG -3'
(R):5'- GGTCTCCTGATGTATCACTGG -3'
Sequencing Primer
(F):5'- GGAACTGGGATATCATTTATGCTC -3'
(R):5'- CTCCTGATGTATCACTGGTTGTGGAG -3'
|
Posted On |
2016-10-06 |