Incidental Mutation 'IGL00337:Gabbr2'
| ID |
10872 |
| 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 # |
IGL00337
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
46662318-46991714 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 46787600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 354
(H354Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107749]
|
| AlphaFold |
Q80T41 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107749
AA Change: H354Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103378
Gene: ENSMUSG00000039809
AA Change: H354Q
| 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 |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap1ar |
A |
T |
3: 127,614,401 (GRCm39) |
|
probably benign |
Het |
| Ap1ar |
A |
C |
3: 127,614,400 (GRCm39) |
|
probably benign |
Het |
| Apip |
A |
T |
2: 102,922,257 (GRCm39) |
T208S |
probably benign |
Het |
| Arhgap11a |
A |
G |
2: 113,672,287 (GRCm39) |
V227A |
probably damaging |
Het |
| Atrn |
G |
T |
2: 130,799,999 (GRCm39) |
V459F |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,237,368 (GRCm39) |
|
probably null |
Het |
| Cfhr1 |
A |
G |
1: 139,484,253 (GRCm39) |
|
probably benign |
Het |
| D5Ertd615e |
A |
G |
5: 45,320,769 (GRCm39) |
|
noncoding transcript |
Het |
| Dhx29 |
A |
G |
13: 113,101,137 (GRCm39) |
I1227V |
probably benign |
Het |
| Fam98a |
T |
C |
17: 75,858,742 (GRCm39) |
D16G |
probably damaging |
Het |
| Frk |
A |
G |
10: 34,360,239 (GRCm39) |
D80G |
probably damaging |
Het |
| Ggps1 |
G |
A |
13: 14,228,973 (GRCm39) |
S70L |
probably damaging |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Hpx |
T |
C |
7: 105,240,977 (GRCm39) |
Y432C |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,449,371 (GRCm39) |
C376R |
probably damaging |
Het |
| Il10rb |
G |
A |
16: 91,203,227 (GRCm39) |
A8T |
probably benign |
Het |
| Ing5 |
G |
T |
1: 93,733,816 (GRCm39) |
M1I |
probably null |
Het |
| Kcnc4 |
C |
T |
3: 107,355,189 (GRCm39) |
D420N |
probably benign |
Het |
| Kcnj8 |
T |
C |
6: 142,515,961 (GRCm39) |
N49D |
probably damaging |
Het |
| Kif26b |
C |
A |
1: 178,743,213 (GRCm39) |
A656D |
probably damaging |
Het |
| Klc4 |
T |
C |
17: 46,946,361 (GRCm39) |
E488G |
probably damaging |
Het |
| Mtmr4 |
C |
T |
11: 87,502,750 (GRCm39) |
H878Y |
probably benign |
Het |
| Ndufaf7 |
T |
C |
17: 79,254,520 (GRCm39) |
|
probably benign |
Het |
| Nlrp14 |
T |
G |
7: 106,781,308 (GRCm39) |
D168E |
possibly damaging |
Het |
| Ogdhl |
T |
C |
14: 32,055,669 (GRCm39) |
F251S |
probably damaging |
Het |
| Or1p1 |
T |
C |
11: 74,180,213 (GRCm39) |
V247A |
probably damaging |
Het |
| P2rx5 |
A |
T |
11: 73,058,318 (GRCm39) |
|
probably null |
Het |
| Parp14 |
G |
A |
16: 35,661,445 (GRCm39) |
T1501I |
probably benign |
Het |
| Prl3c1 |
C |
A |
13: 27,384,746 (GRCm39) |
T85K |
probably damaging |
Het |
| Psg27 |
A |
G |
7: 18,295,729 (GRCm39) |
Y239H |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,493,872 (GRCm39) |
R300G |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,329,499 (GRCm39) |
S839P |
probably benign |
Het |
| Sphkap |
T |
A |
1: 83,317,329 (GRCm39) |
D56V |
probably damaging |
Het |
| Srrt |
C |
T |
5: 137,294,240 (GRCm39) |
|
probably benign |
Het |
| Sstr3 |
T |
A |
15: 78,424,667 (GRCm39) |
T27S |
probably benign |
Het |
| Taf1d |
C |
A |
9: 15,222,899 (GRCm39) |
S255Y |
probably damaging |
Het |
| Tbc1d15 |
C |
A |
10: 115,045,546 (GRCm39) |
E473* |
probably null |
Het |
| Tmem247 |
T |
C |
17: 87,224,963 (GRCm39) |
V24A |
probably benign |
Het |
| Txnrd2 |
T |
C |
16: 18,296,519 (GRCm39) |
C494R |
probably damaging |
Het |
| Zfp180 |
A |
G |
7: 23,784,894 (GRCm39) |
D5G |
probably damaging |
Het |
|
| Other mutations in Gabbr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2012-12-06 |
Incidental Mutation