Incidental Mutation 'R6089:Gabbr2'
| ID |
484642 |
| 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 |
044246-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R6089 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
46662318-46991714 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46846448 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 154
(S154P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107749]
|
| AlphaFold |
Q80T41 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107749
AA Change: S154P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103378
Gene: ENSMUSG00000039809
AA Change: S154P
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
A |
G |
1: 125,335,132 (GRCm39) |
V95A |
probably damaging |
Het |
| Ankrd40 |
A |
T |
11: 94,224,751 (GRCm39) |
K53N |
probably damaging |
Het |
| Ash1l |
C |
T |
3: 88,960,450 (GRCm39) |
Q2338* |
probably null |
Het |
| Astn2 |
A |
G |
4: 65,712,810 (GRCm39) |
F610S |
probably damaging |
Het |
| Baz2a |
TCTCCTC |
TCTC |
10: 127,950,511 (GRCm39) |
|
probably benign |
Het |
| Btbd8 |
C |
T |
5: 107,654,895 (GRCm39) |
A386V |
probably damaging |
Het |
| Calm4 |
A |
T |
13: 3,887,874 (GRCm39) |
|
probably benign |
Het |
| Card10 |
T |
C |
15: 78,686,614 (GRCm39) |
T68A |
probably benign |
Het |
| Cars2 |
A |
G |
8: 11,580,301 (GRCm39) |
M245T |
probably damaging |
Het |
| Cat |
C |
A |
2: 103,303,296 (GRCm39) |
L160F |
probably null |
Het |
| Cers5 |
G |
T |
15: 99,638,883 (GRCm39) |
T144K |
probably benign |
Het |
| Cyp3a13 |
T |
A |
5: 137,908,215 (GRCm39) |
L211F |
probably benign |
Het |
| Defb4 |
A |
T |
8: 19,251,321 (GRCm39) |
R63* |
probably null |
Het |
| Dnah14 |
G |
T |
1: 181,577,719 (GRCm39) |
W3012L |
probably damaging |
Het |
| Dusp18 |
A |
G |
11: 3,847,555 (GRCm39) |
T182A |
probably benign |
Het |
| Dzip1l |
C |
A |
9: 99,524,737 (GRCm39) |
T286K |
possibly damaging |
Het |
| Eif2ak3 |
A |
T |
6: 70,873,918 (GRCm39) |
T944S |
possibly damaging |
Het |
| Fbn1 |
A |
T |
2: 125,163,145 (GRCm39) |
I2119N |
possibly damaging |
Het |
| Gm15440 |
A |
T |
13: 51,845,437 (GRCm39) |
H107Q |
unknown |
Het |
| Grm2 |
G |
A |
9: 106,531,090 (GRCm39) |
P133L |
probably damaging |
Het |
| Gsdme |
A |
G |
6: 50,228,285 (GRCm39) |
V61A |
probably damaging |
Het |
| Gtpbp1 |
A |
G |
15: 79,591,198 (GRCm39) |
T23A |
probably benign |
Het |
| Helz |
A |
T |
11: 107,485,963 (GRCm39) |
|
probably null |
Het |
| Herc1 |
A |
C |
9: 66,352,814 (GRCm39) |
H2100P |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Ifngr1 |
T |
C |
10: 19,482,048 (GRCm39) |
S213P |
probably benign |
Het |
| Itgb7 |
T |
C |
15: 102,125,721 (GRCm39) |
D636G |
probably benign |
Het |
| Mre11a |
G |
A |
9: 14,730,760 (GRCm39) |
D491N |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,554,548 (GRCm39) |
L3915P |
unknown |
Het |
| Myh1 |
T |
A |
11: 67,092,993 (GRCm39) |
|
probably null |
Het |
| Myh1 |
T |
G |
11: 67,111,613 (GRCm39) |
|
probably null |
Het |
| Myh7b |
C |
T |
2: 155,464,409 (GRCm39) |
T608M |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,955,508 (GRCm39) |
K23E |
probably benign |
Het |
| Nacad |
A |
G |
11: 6,551,331 (GRCm39) |
V620A |
probably benign |
Het |
| Pbrm1 |
T |
C |
14: 30,809,542 (GRCm39) |
Y1121H |
probably damaging |
Het |
| Pcdha9 |
T |
C |
18: 37,131,551 (GRCm39) |
F207L |
probably benign |
Het |
| Pcdhb10 |
T |
C |
18: 37,546,679 (GRCm39) |
V585A |
possibly damaging |
Het |
| Pigg |
A |
T |
5: 108,489,788 (GRCm39) |
M798L |
probably benign |
Het |
| Poc5 |
G |
T |
13: 96,533,179 (GRCm39) |
M102I |
probably damaging |
Het |
| Ppp2r3d |
T |
A |
9: 101,088,835 (GRCm39) |
Q496L |
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,068,281 (GRCm39) |
Y1752H |
probably damaging |
Het |
| Ptpru |
G |
C |
4: 131,499,941 (GRCm39) |
S1244R |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,307,385 (GRCm39) |
K682E |
probably benign |
Het |
| Rtp3 |
T |
C |
9: 110,816,041 (GRCm39) |
D170G |
probably benign |
Het |
| Sall4 |
T |
C |
2: 168,597,406 (GRCm39) |
D478G |
possibly damaging |
Het |
| Scai |
A |
T |
2: 38,973,566 (GRCm39) |
Y58* |
probably null |
Het |
| Simc1 |
G |
A |
13: 54,676,303 (GRCm39) |
V1007M |
probably benign |
Het |
| Tcf20 |
G |
T |
15: 82,737,409 (GRCm39) |
D1347E |
probably benign |
Het |
| Tdo2 |
T |
C |
3: 81,870,035 (GRCm39) |
Y279C |
probably damaging |
Het |
| Trdn |
C |
T |
10: 33,340,571 (GRCm39) |
P602S |
probably benign |
Het |
| Txndc5 |
A |
T |
13: 38,707,392 (GRCm39) |
M1K |
probably null |
Het |
| Ubr2 |
A |
C |
17: 47,293,218 (GRCm39) |
M356R |
possibly damaging |
Het |
| Uqcrc2 |
A |
T |
7: 120,253,232 (GRCm39) |
D332V |
probably damaging |
Het |
| Usp48 |
T |
C |
4: 137,333,129 (GRCm39) |
F108L |
probably damaging |
Het |
| Vill |
A |
G |
9: 118,886,867 (GRCm39) |
N4S |
probably benign |
Het |
| Vmn1r11 |
T |
C |
6: 57,114,645 (GRCm39) |
V103A |
possibly damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,286,336 (GRCm39) |
D278G |
probably benign |
Het |
| Vps35l |
T |
G |
7: 118,345,658 (GRCm39) |
S59A |
possibly damaging |
Het |
| Wfdc15a |
A |
T |
2: 164,041,586 (GRCm39) |
L79* |
probably null |
Het |
| Xxylt1 |
C |
T |
16: 30,899,799 (GRCm39) |
V119M |
probably damaging |
Het |
| Zfp26 |
G |
T |
9: 20,348,989 (GRCm39) |
A525D |
probably damaging |
Het |
| Zgrf1 |
G |
A |
3: 127,389,642 (GRCm39) |
G396D |
probably damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,948,889 (GRCm39) |
D148G |
possibly damaging |
Het |
| Zscan26 |
G |
T |
13: 21,632,499 (GRCm39) |
S77R |
probably damaging |
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 |
|
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 |
|
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'- AAAACGTGGGCTGGGTGTAC -3'
(R):5'- GAGATGTAGTTCACTGCCCTTC -3'
Sequencing Primer
(F):5'- TGTACCTCGGAGAAGCGCTG -3'
(R):5'- CAGAGTTTGGTTCGCAGCTCAC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation