Incidental Mutation 'R5086:Gabbr2'
ID |
387423 |
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 |
042675-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R5086 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
46662318-46991714 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 46724342 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 17
(M17K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146296
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107749]
[ENSMUST00000205643]
|
AlphaFold |
Q80T41 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107749
AA Change: M570K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103378 Gene: ENSMUSG00000039809 AA Change: M570K
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 |
probably damaging
Transcript: ENSMUST00000205643
AA Change: M17K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.9655 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.3%
|
Validation Efficiency |
99% (80/81) |
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 |
Adsl |
T |
A |
15: 80,847,901 (GRCm39) |
M278K |
probably damaging |
Het |
Ago1 |
T |
C |
4: 126,347,397 (GRCm39) |
I147V |
probably benign |
Het |
Ank1 |
T |
C |
8: 23,578,634 (GRCm39) |
L261P |
probably damaging |
Het |
Ank2 |
T |
C |
3: 126,740,997 (GRCm39) |
|
probably benign |
Het |
Ap1b1 |
T |
C |
11: 4,968,020 (GRCm39) |
V177A |
possibly damaging |
Het |
Arhgap21 |
A |
G |
2: 20,853,645 (GRCm39) |
S1906P |
probably benign |
Het |
Asb1 |
A |
G |
1: 91,482,533 (GRCm39) |
Y214C |
probably benign |
Het |
BC049715 |
C |
T |
6: 136,817,429 (GRCm39) |
T223M |
probably damaging |
Het |
C1ra |
T |
A |
6: 124,496,688 (GRCm39) |
C375S |
probably damaging |
Het |
Cdh26 |
C |
T |
2: 178,083,210 (GRCm39) |
R26* |
probably null |
Het |
Chordc1 |
A |
G |
9: 18,224,131 (GRCm39) |
M304V |
probably benign |
Het |
Cpne8 |
T |
C |
15: 90,532,771 (GRCm39) |
|
probably benign |
Het |
Cracd |
A |
G |
5: 77,004,971 (GRCm39) |
E444G |
unknown |
Het |
Csf1 |
T |
C |
3: 107,656,026 (GRCm39) |
E335G |
possibly damaging |
Het |
Ctnnd2 |
C |
T |
15: 30,683,493 (GRCm39) |
P498L |
possibly damaging |
Het |
Cyp4f18 |
C |
T |
8: 72,756,276 (GRCm39) |
R100H |
probably benign |
Het |
Dnaaf2 |
G |
A |
12: 69,244,060 (GRCm39) |
R334C |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dock10 |
A |
G |
1: 80,529,189 (GRCm39) |
S1071P |
possibly damaging |
Het |
Dtnb |
T |
C |
12: 3,682,942 (GRCm39) |
V7A |
probably benign |
Het |
Eif1 |
T |
C |
11: 100,211,552 (GRCm39) |
I62T |
probably damaging |
Het |
Fbxo44 |
T |
A |
4: 148,240,669 (GRCm39) |
T145S |
probably benign |
Het |
G530012D18Rik |
G |
C |
1: 85,504,941 (GRCm39) |
|
probably benign |
Het |
Gm5860 |
T |
A |
4: 81,984,173 (GRCm39) |
|
noncoding transcript |
Het |
Gm7964 |
T |
A |
7: 83,406,560 (GRCm39) |
F439Y |
possibly damaging |
Het |
Gpbp1l1 |
C |
A |
4: 116,445,789 (GRCm39) |
T297N |
probably benign |
Het |
Greb1 |
C |
T |
12: 16,758,023 (GRCm39) |
|
probably benign |
Het |
Gvin3 |
A |
T |
7: 106,197,234 (GRCm39) |
|
noncoding transcript |
Het |
Hkdc1 |
T |
C |
10: 62,231,053 (GRCm39) |
|
probably benign |
Het |
Ighv16-1 |
T |
A |
12: 114,032,510 (GRCm39) |
L97F |
probably benign |
Het |
Il21r |
A |
G |
7: 125,232,027 (GRCm39) |
D485G |
probably damaging |
Het |
Inpp5d |
A |
G |
1: 87,633,686 (GRCm39) |
H441R |
probably damaging |
Het |
Iqgap2 |
G |
T |
13: 95,772,088 (GRCm39) |
R1364S |
probably benign |
Het |
Krtap20-2 |
G |
T |
16: 89,002,806 (GRCm39) |
C2F |
unknown |
Het |
Man2c1 |
T |
A |
9: 57,038,924 (GRCm39) |
D111E |
probably damaging |
Het |
Map1a |
G |
A |
2: 121,134,985 (GRCm39) |
E1696K |
probably damaging |
Het |
Mdc1 |
T |
A |
17: 36,159,522 (GRCm39) |
V634E |
probably benign |
Het |
Mgam2-ps |
A |
G |
6: 40,800,547 (GRCm39) |
|
noncoding transcript |
Het |
Mllt3 |
T |
A |
4: 87,707,535 (GRCm39) |
N68Y |
probably damaging |
Het |
Mrps18a |
T |
A |
17: 46,436,621 (GRCm39) |
D143E |
probably benign |
Het |
Myl12a |
T |
C |
17: 71,301,611 (GRCm39) |
D172G |
possibly damaging |
Het |
Notch3 |
T |
C |
17: 32,362,308 (GRCm39) |
N1439S |
probably benign |
Het |
Npepps |
T |
C |
11: 97,108,625 (GRCm39) |
M764V |
probably benign |
Het |
Or8d2b |
T |
C |
9: 38,789,087 (GRCm39) |
L205P |
probably damaging |
Het |
Paxbp1 |
A |
T |
16: 90,812,104 (GRCm39) |
|
probably benign |
Het |
Pcdhb7 |
A |
T |
18: 37,476,162 (GRCm39) |
T433S |
possibly damaging |
Het |
Pcdhb8 |
A |
T |
18: 37,489,159 (GRCm39) |
Y279F |
probably damaging |
Het |
Pim3 |
T |
C |
15: 88,748,606 (GRCm39) |
L235P |
probably damaging |
Het |
Plekha4 |
C |
T |
7: 45,203,082 (GRCm39) |
S685F |
possibly damaging |
Het |
Plekhg1 |
C |
A |
10: 3,853,649 (GRCm39) |
H167Q |
probably damaging |
Het |
Plekhn1 |
G |
C |
4: 156,306,881 (GRCm39) |
P503A |
probably benign |
Het |
Sar1a |
T |
C |
10: 61,527,125 (GRCm39) |
L181P |
probably damaging |
Het |
Sec22a |
G |
T |
16: 35,168,112 (GRCm39) |
S133* |
probably null |
Het |
Sipa1l3 |
G |
A |
7: 29,048,000 (GRCm39) |
S247F |
probably damaging |
Het |
Slc31a1 |
T |
C |
4: 62,306,190 (GRCm39) |
S103P |
probably damaging |
Het |
Spag6 |
A |
C |
2: 18,747,688 (GRCm39) |
|
probably benign |
Het |
Stab1 |
T |
A |
14: 30,865,581 (GRCm39) |
D1769V |
probably damaging |
Het |
Stab1 |
G |
A |
14: 30,881,261 (GRCm39) |
L590F |
probably damaging |
Het |
Syde2 |
CAGTT |
CAGTTAGTT |
3: 145,707,163 (GRCm39) |
|
probably null |
Het |
Tbc1d2b |
A |
G |
9: 90,109,510 (GRCm39) |
L322P |
probably benign |
Het |
Tdrp |
T |
C |
8: 14,024,590 (GRCm39) |
E18G |
possibly damaging |
Het |
Tlr3 |
T |
A |
8: 45,855,862 (GRCm39) |
N106I |
probably damaging |
Het |
Tmem104 |
T |
A |
11: 115,092,227 (GRCm39) |
I112N |
probably damaging |
Het |
Tmem14c |
C |
T |
13: 41,174,598 (GRCm39) |
T69I |
probably benign |
Het |
Tmprss11g |
G |
A |
5: 86,644,377 (GRCm39) |
P156S |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,700,947 (GRCm39) |
|
probably benign |
Het |
Vmn1r45 |
A |
T |
6: 89,910,082 (GRCm39) |
I296N |
probably benign |
Het |
Vmn2r1 |
T |
A |
3: 63,997,418 (GRCm39) |
V358D |
probably benign |
Het |
Zc3h7b |
T |
C |
15: 81,677,375 (GRCm39) |
L892P |
probably damaging |
Het |
Zfp366 |
A |
G |
13: 99,365,451 (GRCm39) |
Q204R |
probably benign |
Het |
Zfp598 |
C |
A |
17: 24,899,872 (GRCm39) |
|
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 |
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 |
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'- ACGTGCTCCACCTGAGATAG -3'
(R):5'- AGCTGTCCATAGGATCAGAATC -3'
Sequencing Primer
(F):5'- GTCCTAGCATAGGTGGCACTTAC -3'
(R):5'- GTCCATAGGATCAGAATCTGAGTCC -3'
|
Posted On |
2016-06-06 |