Incidental Mutation 'IGL01584:Gabbr2'
| ID |
91460 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gabbr2
|
| Ensembl Gene |
ENSMUSG00000039809 |
| Gene Name |
gamma-aminobutyric acid type B receptor subunit 2 |
| Synonyms |
Gababr2, Gpr51, LOC242425, GB2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
IGL01584
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
46662318-46991714 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46674524 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 821
(K821R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107749]
[ENSMUST00000205643]
|
| AlphaFold |
Q80T41 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107749
AA Change: K821R
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103378
Gene: ENSMUSG00000039809
AA Change: K821R
| 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
|
| Coding Region Coverage |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,195,749 (GRCm39) |
V570A |
probably damaging |
Het |
| Abcb1a |
T |
C |
5: 8,748,637 (GRCm39) |
S323P |
possibly damaging |
Het |
| Adcy8 |
C |
T |
15: 64,687,170 (GRCm39) |
D445N |
probably damaging |
Het |
| Cdc14a |
A |
T |
3: 116,186,474 (GRCm39) |
Y102* |
probably null |
Het |
| Cubn |
A |
G |
2: 13,313,472 (GRCm39) |
|
probably benign |
Het |
| Dcaf7 |
T |
C |
11: 105,944,653 (GRCm39) |
S279P |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,511,567 (GRCm39) |
Q1514R |
probably damaging |
Het |
| Dtx2 |
G |
A |
5: 136,055,420 (GRCm39) |
S369N |
possibly damaging |
Het |
| Dusp11 |
A |
G |
6: 85,930,376 (GRCm39) |
F136S |
probably damaging |
Het |
| Fbxo32 |
T |
C |
15: 58,047,632 (GRCm39) |
D227G |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,120,773 (GRCm39) |
V1215E |
unknown |
Het |
| Flg2 |
A |
T |
3: 93,122,777 (GRCm39) |
D1649V |
unknown |
Het |
| Gga2 |
T |
C |
7: 121,590,761 (GRCm39) |
T516A |
probably benign |
Het |
| Gm15446 |
T |
A |
5: 110,088,668 (GRCm39) |
*64K |
probably null |
Het |
| Gm5900 |
T |
C |
7: 104,599,361 (GRCm39) |
|
noncoding transcript |
Het |
| Il17rb |
A |
G |
14: 29,725,637 (GRCm39) |
F121S |
probably damaging |
Het |
| Ip6k3 |
C |
A |
17: 27,370,034 (GRCm39) |
R128L |
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,754,250 (GRCm39) |
|
probably benign |
Het |
| Lrrn4 |
A |
G |
2: 132,719,996 (GRCm39) |
L268P |
probably damaging |
Het |
| Mthfd1l |
C |
A |
10: 3,966,738 (GRCm39) |
S332R |
probably damaging |
Het |
| Or12d12 |
C |
T |
17: 37,610,629 (GRCm39) |
R228H |
probably benign |
Het |
| Or5t17 |
G |
A |
2: 86,832,495 (GRCm39) |
V61I |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,592,569 (GRCm39) |
E25G |
probably damaging |
Het |
| Prima1 |
A |
T |
12: 103,169,047 (GRCm39) |
|
probably null |
Het |
| Rbm26 |
A |
G |
14: 105,368,968 (GRCm39) |
V737A |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,616,644 (GRCm39) |
|
probably null |
Het |
| Sema5b |
G |
T |
16: 35,465,793 (GRCm39) |
C114F |
probably damaging |
Het |
| Spata31f1e |
A |
C |
4: 42,794,014 (GRCm39) |
S39R |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,407,581 (GRCm39) |
V3196A |
probably damaging |
Het |
| Svs3b |
T |
C |
2: 164,097,943 (GRCm39) |
Y126C |
probably benign |
Het |
| Tmem171 |
T |
C |
13: 98,828,683 (GRCm39) |
|
probably null |
Het |
| Tnrc6b |
T |
A |
15: 80,763,883 (GRCm39) |
W462R |
probably benign |
Het |
| Trdmt1 |
T |
C |
2: 13,524,739 (GRCm39) |
R239G |
probably benign |
Het |
| Usp5 |
A |
T |
6: 124,796,350 (GRCm39) |
V583E |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,602,111 (GRCm39) |
V639A |
probably benign |
Het |
| Vmn1r206 |
T |
C |
13: 22,804,964 (GRCm39) |
K81R |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,383,197 (GRCm39) |
I599M |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation