Incidental Mutation 'R6717:Gabbr2'
| ID |
529420 |
| 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 |
044835-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R6717 (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 46787574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 363
(V363A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107749]
|
| AlphaFold |
Q80T41 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107749
AA Change: V363A
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103378
Gene: ENSMUSG00000039809
AA Change: V363A
| 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 |
0.1816 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| Validation Efficiency |
98% (47/48) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
C |
T |
5: 4,114,086 (GRCm39) |
L3122F |
probably damaging |
Het |
| Atp6v1b1 |
A |
T |
6: 83,730,632 (GRCm39) |
|
probably null |
Het |
| Ccdc178 |
A |
T |
18: 22,153,946 (GRCm39) |
V621E |
probably damaging |
Het |
| Cfap126 |
T |
C |
1: 170,941,671 (GRCm39) |
|
probably null |
Het |
| Cog2 |
T |
C |
8: 125,252,488 (GRCm39) |
I64T |
probably damaging |
Het |
| Dhx9 |
A |
C |
1: 153,349,210 (GRCm39) |
|
probably null |
Het |
| Efcab7 |
A |
G |
4: 99,761,931 (GRCm39) |
D407G |
possibly damaging |
Het |
| Eif2b5 |
G |
T |
16: 20,324,033 (GRCm39) |
G459C |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,793,765 (GRCm39) |
E1168G |
probably damaging |
Het |
| Flnc |
AGCTGTCAAGTATGCTG |
AGCTG |
6: 29,450,901 (GRCm39) |
|
probably benign |
Het |
| Fry |
A |
G |
5: 150,419,777 (GRCm39) |
T980A |
probably benign |
Het |
| Ggt6 |
T |
A |
11: 72,328,346 (GRCm39) |
L244* |
probably null |
Het |
| Gprc6a |
T |
A |
10: 51,491,233 (GRCm39) |
I768F |
probably damaging |
Het |
| Grk1 |
G |
A |
8: 13,466,237 (GRCm39) |
M560I |
probably benign |
Het |
| Hapln4 |
G |
A |
8: 70,537,740 (GRCm39) |
E145K |
probably damaging |
Het |
| Hoxd9 |
C |
T |
2: 74,528,733 (GRCm39) |
P112S |
probably benign |
Het |
| Ly6g6f |
T |
A |
17: 35,304,550 (GRCm39) |
M1L |
probably benign |
Het |
| Mast1 |
T |
C |
8: 85,644,383 (GRCm39) |
T849A |
probably benign |
Het |
| Mob4 |
A |
T |
1: 55,175,872 (GRCm39) |
M39L |
possibly damaging |
Het |
| Mrgpre |
A |
T |
7: 143,335,260 (GRCm39) |
L81Q |
probably damaging |
Het |
| Mst1 |
T |
C |
9: 107,957,774 (GRCm39) |
|
probably null |
Het |
| Muc5b |
A |
T |
7: 141,411,559 (GRCm39) |
R1502* |
probably null |
Het |
| Or4b13 |
T |
A |
2: 90,082,868 (GRCm39) |
I155L |
probably benign |
Het |
| Or5ap2 |
T |
A |
2: 85,680,567 (GRCm39) |
I257N |
probably damaging |
Het |
| Or9e1 |
T |
C |
11: 58,732,113 (GRCm39) |
Y58H |
probably damaging |
Het |
| Pdc |
A |
G |
1: 150,208,769 (GRCm39) |
D84G |
probably damaging |
Het |
| Peak1 |
T |
C |
9: 56,114,523 (GRCm39) |
N443D |
probably benign |
Het |
| Pkd1l3 |
T |
A |
8: 110,341,401 (GRCm39) |
W85R |
unknown |
Het |
| Pramel31 |
G |
T |
4: 144,089,227 (GRCm39) |
V182L |
probably benign |
Het |
| Rfc1 |
G |
A |
5: 65,459,347 (GRCm39) |
Q190* |
probably null |
Het |
| Rfc1 |
A |
G |
5: 65,470,304 (GRCm39) |
S68P |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,452,317 (GRCm39) |
V432A |
probably benign |
Het |
| Ror2 |
A |
G |
13: 53,273,018 (GRCm39) |
S204P |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,162,631 (GRCm39) |
E205G |
probably damaging |
Het |
| Slc2a8 |
A |
C |
2: 32,866,189 (GRCm39) |
M277R |
probably damaging |
Het |
| Slc4a1 |
T |
C |
11: 102,245,249 (GRCm39) |
Y566C |
probably damaging |
Het |
| Slc6a12 |
A |
G |
6: 121,331,262 (GRCm39) |
N185S |
probably benign |
Het |
| Srcap |
GCTCCTCCTCCTCCTCCT |
GCTCCTCCTCCTCCT |
7: 127,157,482 (GRCm39) |
|
probably benign |
Het |
| Stk33 |
T |
A |
7: 108,926,823 (GRCm39) |
T279S |
possibly damaging |
Het |
| Taok3 |
A |
G |
5: 117,379,015 (GRCm39) |
|
probably benign |
Het |
| Tlr11 |
A |
G |
14: 50,599,561 (GRCm39) |
T516A |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,641,093 (GRCm39) |
L1088Q |
possibly damaging |
Het |
| Tmem132d |
T |
A |
5: 127,861,485 (GRCm39) |
M879L |
probably benign |
Het |
| Tnk2 |
A |
G |
16: 32,489,687 (GRCm39) |
E322G |
probably damaging |
Het |
| Ttc28 |
T |
C |
5: 111,433,302 (GRCm39) |
V2081A |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,624,753 (GRCm39) |
|
probably null |
Het |
| Zfp105 |
T |
C |
9: 122,759,373 (GRCm39) |
V348A |
possibly damaging |
Het |
| Zswim2 |
T |
C |
2: 83,745,753 (GRCm39) |
R562G |
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 |
|
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 |
|
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'- ACCTTGTATGACTCCCTAGGG -3'
(R):5'- TTCTTCCAGACCCTGCAAAC -3'
Sequencing Primer
(F):5'- GGGCACCGAGAAAACAGCC -3'
(R):5'- TGAGCAAGTCAGTGTCCACATCTG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation