Incidental Mutation 'R7339:Gabbr2'
ID |
569691 |
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 |
045429-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R7339 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
46662318-46991714 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 46846340 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 190
(K190E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103378
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107749]
|
AlphaFold |
Q80T41 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107749
AA Change: K190E
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000103378 Gene: ENSMUSG00000039809 AA Change: K190E
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 |
|
Meta Mutation Damage Score |
0.1708 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (61/61) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
T |
C |
5: 113,330,938 (GRCm39) |
D1092G |
probably benign |
Het |
Abcb11 |
C |
T |
2: 69,130,211 (GRCm39) |
D282N |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,985,529 (GRCm39) |
N2271I |
possibly damaging |
Het |
Amz1 |
A |
G |
5: 140,727,306 (GRCm39) |
S90G |
probably benign |
Het |
Arhgap5 |
A |
G |
12: 52,564,481 (GRCm39) |
E484G |
possibly damaging |
Het |
Arid3c |
A |
G |
4: 41,729,883 (GRCm39) |
|
probably null |
Het |
Atp1a1 |
T |
C |
3: 101,497,188 (GRCm39) |
I373V |
probably benign |
Het |
Barhl1 |
T |
C |
2: 28,799,899 (GRCm39) |
E242G |
probably damaging |
Het |
Bltp2 |
G |
A |
11: 78,163,210 (GRCm39) |
|
probably null |
Het |
Cactin |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
10: 81,157,152 (GRCm39) |
|
probably benign |
Het |
Casz1 |
T |
A |
4: 149,036,202 (GRCm39) |
V1488E |
probably damaging |
Het |
Ccdc175 |
C |
A |
12: 72,182,815 (GRCm39) |
Q401H |
probably damaging |
Het |
Cfap36 |
T |
C |
11: 29,175,925 (GRCm39) |
Y191C |
probably benign |
Het |
Chmp2b |
G |
A |
16: 65,342,232 (GRCm39) |
Q119* |
probably null |
Het |
Cps1 |
T |
A |
1: 67,236,174 (GRCm39) |
I969N |
possibly damaging |
Het |
Dennd5a |
A |
G |
7: 109,500,366 (GRCm39) |
F920L |
probably damaging |
Het |
Dnah12 |
A |
T |
14: 26,594,277 (GRCm39) |
T3410S |
probably benign |
Het |
Fbxo42 |
T |
G |
4: 140,927,455 (GRCm39) |
S578R |
possibly damaging |
Het |
Fcgr1 |
C |
T |
3: 96,191,615 (GRCm39) |
G398R |
not run |
Het |
Foxa3 |
A |
T |
7: 18,748,794 (GRCm39) |
Y111N |
probably damaging |
Het |
Gbp10 |
T |
C |
5: 105,367,964 (GRCm39) |
Y403C |
possibly damaging |
Het |
Hsd3b5 |
A |
G |
3: 98,529,390 (GRCm39) |
I80T |
probably damaging |
Het |
Kri1 |
T |
G |
9: 21,197,883 (GRCm39) |
Q89P |
|
Het |
Lrp6 |
G |
T |
6: 134,427,781 (GRCm39) |
P1604T |
probably damaging |
Het |
Metap1 |
T |
C |
3: 138,171,898 (GRCm39) |
|
probably null |
Het |
Mkrn3 |
C |
T |
7: 62,069,530 (GRCm39) |
R87H |
probably benign |
Het |
Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
Myh6 |
T |
C |
14: 55,199,025 (GRCm39) |
|
probably null |
Het |
Naip6 |
G |
T |
13: 100,452,527 (GRCm39) |
P178Q |
probably damaging |
Het |
Ncapg2 |
A |
G |
12: 116,378,454 (GRCm39) |
E160G |
probably damaging |
Het |
Nek6 |
G |
A |
2: 38,450,977 (GRCm39) |
A127T |
probably damaging |
Het |
Nell1 |
T |
C |
7: 49,929,297 (GRCm39) |
V264A |
probably benign |
Het |
Nlrp2 |
T |
A |
7: 5,330,627 (GRCm39) |
I590F |
possibly damaging |
Het |
Or13j1 |
C |
T |
4: 43,706,080 (GRCm39) |
A163T |
probably benign |
Het |
Or2y17 |
G |
A |
11: 49,231,875 (GRCm39) |
R172Q |
not run |
Het |
Or4f57 |
A |
T |
2: 111,790,956 (GRCm39) |
M154K |
probably benign |
Het |
Or4f6 |
A |
G |
2: 111,838,820 (GRCm39) |
L237P |
probably damaging |
Het |
Or52n4b |
A |
C |
7: 108,144,107 (GRCm39) |
D125A |
probably damaging |
Het |
Otop3 |
T |
A |
11: 115,237,204 (GRCm39) |
L556Q |
probably damaging |
Het |
Padi1 |
T |
C |
4: 140,556,545 (GRCm39) |
D190G |
probably null |
Het |
Pald1 |
T |
C |
10: 61,159,110 (GRCm39) |
S774G |
possibly damaging |
Het |
Pde10a |
C |
T |
17: 8,975,860 (GRCm39) |
T55I |
probably benign |
Het |
Pla2g4d |
T |
C |
2: 120,109,459 (GRCm39) |
M197V |
probably benign |
Het |
Prom1 |
C |
A |
5: 44,258,995 (GRCm39) |
|
probably benign |
Het |
Ptdss1 |
A |
G |
13: 67,111,426 (GRCm39) |
H164R |
possibly damaging |
Het |
Rrh |
A |
T |
3: 129,604,262 (GRCm39) |
I313N |
probably damaging |
Het |
Slc35b4 |
A |
G |
6: 34,144,591 (GRCm39) |
I88T |
probably damaging |
Het |
Slc38a11 |
C |
T |
2: 65,156,914 (GRCm39) |
V353I |
probably benign |
Het |
Spata31e3 |
A |
T |
13: 50,401,204 (GRCm39) |
I374N |
possibly damaging |
Het |
Spdef |
T |
A |
17: 27,939,219 (GRCm39) |
E42D |
probably benign |
Het |
Tgoln1 |
G |
C |
6: 72,593,261 (GRCm39) |
T73R |
probably benign |
Het |
Tmx1 |
A |
G |
12: 70,505,624 (GRCm39) |
D129G |
probably benign |
Het |
Trav13n-4 |
A |
T |
14: 53,601,435 (GRCm39) |
Y68F |
probably benign |
Het |
Trp53 |
T |
C |
11: 69,480,015 (GRCm39) |
S238P |
probably damaging |
Het |
Trp53bp1 |
T |
C |
2: 121,066,950 (GRCm39) |
D592G |
probably benign |
Het |
Ttll5 |
T |
C |
12: 85,904,238 (GRCm39) |
|
probably null |
Het |
Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
Vmn2r43 |
A |
T |
7: 8,258,306 (GRCm39) |
Y302* |
probably null |
Het |
Vps13d |
C |
T |
4: 144,847,938 (GRCm39) |
V2478I |
|
Het |
Vps35l |
A |
T |
7: 118,409,194 (GRCm39) |
I612F |
probably damaging |
Het |
Wsb1 |
A |
G |
11: 79,131,184 (GRCm39) |
V404A |
probably damaging |
Het |
Zfc3h1 |
A |
G |
10: 115,239,205 (GRCm39) |
D539G |
probably damaging |
Het |
Zfp318 |
T |
C |
17: 46,722,173 (GRCm39) |
V1392A |
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 |
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 |
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'- AGCGTTCTAGATGGATGAATGC -3'
(R):5'- TGTGCCAAGAGAGAAATGCC -3'
Sequencing Primer
(F):5'- CGTTCTAGATGGATGAATGCTAGAGC -3'
(R):5'- ATGCCTGCCTTTAAAGACCATG -3'
|
Posted On |
2019-09-13 |