Incidental Mutation 'R9050:Gabbr2'
| ID |
688289 |
| 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 |
068876-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R9050 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
46662318-46991714 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46798659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 272
(F272L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107749]
|
| AlphaFold |
Q80T41 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107749
AA Change: F272L
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000103378
Gene: ENSMUSG00000039809
AA Change: F272L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
96% (53/55) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd5 |
T |
C |
9: 122,208,605 (GRCm39) |
Y332H |
probably benign |
Het |
| Apoc3 |
A |
G |
9: 46,144,592 (GRCm39) |
F77L |
probably benign |
Het |
| Atp5f1c |
A |
T |
2: 10,069,049 (GRCm39) |
D99E |
probably damaging |
Het |
| Atxn3 |
A |
T |
12: 101,924,387 (GRCm39) |
|
probably benign |
Het |
| Calcoco1 |
A |
G |
15: 102,618,400 (GRCm39) |
V463A |
probably damaging |
Het |
| Cby3 |
A |
G |
11: 50,248,617 (GRCm39) |
T20A |
possibly damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,883,133 (GRCm39) |
D1256G |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,738,687 (GRCm39) |
D2385E |
possibly damaging |
Het |
| Clec9a |
G |
C |
6: 129,396,561 (GRCm39) |
A170P |
possibly damaging |
Het |
| Col5a3 |
C |
T |
9: 20,697,691 (GRCm39) |
G871S |
probably damaging |
Het |
| Fmo4 |
A |
G |
1: 162,635,099 (GRCm39) |
S159P |
probably benign |
Het |
| Glp1r |
G |
A |
17: 31,137,892 (GRCm39) |
G108S |
probably damaging |
Het |
| Herpud1 |
T |
C |
8: 95,117,454 (GRCm39) |
S13P |
probably benign |
Het |
| Hps5 |
T |
C |
7: 46,422,607 (GRCm39) |
D574G |
probably benign |
Het |
| Il7 |
A |
G |
3: 7,669,170 (GRCm39) |
V22A |
possibly damaging |
Het |
| Kmt5c |
A |
G |
7: 4,745,281 (GRCm39) |
T91A |
probably benign |
Het |
| Mrpl39 |
A |
C |
16: 84,531,844 (GRCm39) |
|
probably benign |
Het |
| Mtr |
T |
C |
13: 12,231,748 (GRCm39) |
D652G |
probably null |
Het |
| Neb |
C |
T |
2: 52,079,901 (GRCm39) |
V5768M |
probably damaging |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nicol1 |
G |
C |
5: 34,140,874 (GRCm39) |
A29P |
unknown |
Het |
| Nmrk1 |
T |
A |
19: 18,618,539 (GRCm39) |
M74K |
probably benign |
Het |
| Obox8 |
A |
G |
7: 14,066,870 (GRCm39) |
L58P |
unknown |
Het |
| Oga |
T |
C |
19: 45,756,354 (GRCm39) |
T430A |
probably damaging |
Het |
| Or1o4 |
A |
G |
17: 37,590,820 (GRCm39) |
Y164H |
probably damaging |
Het |
| Or2b2 |
A |
G |
13: 21,887,150 (GRCm39) |
|
probably benign |
Het |
| Or2y1e |
T |
C |
11: 49,218,930 (GRCm39) |
S231P |
possibly damaging |
Het |
| Or5p62 |
A |
C |
7: 107,771,087 (GRCm39) |
L288W |
probably damaging |
Het |
| Pcdhb17 |
T |
G |
18: 37,620,286 (GRCm39) |
V692G |
probably damaging |
Het |
| Pfas |
A |
G |
11: 68,882,567 (GRCm39) |
V829A |
probably benign |
Het |
| Pramel24 |
A |
T |
4: 143,453,329 (GRCm39) |
T146S |
probably benign |
Het |
| Pth |
A |
G |
7: 112,985,043 (GRCm39) |
V110A |
probably benign |
Het |
| Rabggta |
T |
A |
14: 55,959,056 (GRCm39) |
Q37L |
probably benign |
Het |
| Rin3 |
A |
G |
12: 102,335,738 (GRCm39) |
T550A |
probably damaging |
Het |
| Scn8a |
G |
A |
15: 100,906,161 (GRCm39) |
V785I |
possibly damaging |
Het |
| Sec24d |
T |
C |
3: 123,144,374 (GRCm39) |
V617A |
probably benign |
Het |
| Slc47a1 |
T |
C |
11: 61,235,160 (GRCm39) |
I558V |
probably benign |
Het |
| Slc6a15 |
A |
T |
10: 103,252,516 (GRCm39) |
M560L |
possibly damaging |
Het |
| Slfn9 |
G |
A |
11: 82,879,120 (GRCm39) |
T3I |
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,935,294 (GRCm39) |
H35R |
probably damaging |
Het |
| Spats2 |
G |
T |
15: 99,110,010 (GRCm39) |
R469L |
possibly damaging |
Het |
| Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
| Ssx2ip |
C |
T |
3: 146,144,512 (GRCm39) |
S592L |
possibly damaging |
Het |
| Ston1 |
A |
G |
17: 88,944,228 (GRCm39) |
T545A |
probably benign |
Het |
| Suz12 |
C |
T |
11: 79,913,023 (GRCm39) |
L379F |
probably damaging |
Het |
| Tbc1d24 |
C |
A |
17: 24,404,899 (GRCm39) |
V82L |
probably benign |
Het |
| Tbc1d24 |
A |
T |
17: 24,404,898 (GRCm39) |
V82E |
possibly damaging |
Het |
| Thada |
A |
G |
17: 84,736,629 (GRCm39) |
I884T |
probably damaging |
Het |
| Tln1 |
C |
A |
4: 43,549,786 (GRCm39) |
E542* |
probably null |
Het |
| Togaram2 |
T |
C |
17: 72,007,878 (GRCm39) |
L401P |
probably damaging |
Het |
| Ttbk2 |
A |
T |
2: 120,637,319 (GRCm39) |
N115K |
probably benign |
Het |
| Tubgcp4 |
G |
A |
2: 121,004,079 (GRCm39) |
S40N |
probably benign |
Het |
| Wrn |
T |
C |
8: 33,833,021 (GRCm39) |
D157G |
probably damaging |
Het |
| Zer1 |
A |
T |
2: 30,001,294 (GRCm39) |
F70Y |
probably damaging |
Het |
| Zfp791 |
T |
C |
8: 85,837,334 (GRCm39) |
I177V |
possibly 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 |
|
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 |
|
|
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'- ACTCAATAAGCCAGGCTGG -3'
(R):5'- AATGTGCCAATGCTATCTGGG -3'
Sequencing Primer
(F):5'- AATACTGACCTTCCCTGAGATGG -3'
(R):5'- CAATGCTATCTGGGGTCCTCAGAG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation