Incidental Mutation 'IGL02714:Gpr139'
ID |
304691 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gpr139
|
Ensembl Gene |
ENSMUSG00000066197 |
Gene Name |
G protein-coupled receptor 139 |
Synonyms |
LOC209776, GPRg1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02714
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
118739970-118783761 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 118744342 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 81
(D81V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081700
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084650]
|
AlphaFold |
Q80UC8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084650
AA Change: D81V
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000081700 Gene: ENSMUSG00000066197 AA Change: D81V
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
35 |
277 |
2.9e-18 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the rhodopsin family of G-protein-coupled receptors. The encoded protein is almost exclusively expressed in the central nervous system. L-tryptophan and L-phenylalanine may act as the physiologic ligands of the encoded protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bcam |
T |
A |
7: 19,492,732 (GRCm39) |
|
probably benign |
Het |
Bod1l |
T |
C |
5: 41,973,682 (GRCm39) |
D2544G |
probably benign |
Het |
Cd86 |
T |
C |
16: 36,441,290 (GRCm39) |
D59G |
possibly damaging |
Het |
Ckmt2 |
A |
G |
13: 92,006,427 (GRCm39) |
M306T |
possibly damaging |
Het |
Dsc1 |
T |
C |
18: 20,220,542 (GRCm39) |
E744G |
probably damaging |
Het |
Lsg1 |
T |
C |
16: 30,404,368 (GRCm39) |
|
probably null |
Het |
Ly9 |
A |
G |
1: 171,432,686 (GRCm39) |
V109A |
possibly damaging |
Het |
Mcm3ap |
T |
A |
10: 76,346,867 (GRCm39) |
S1806T |
probably benign |
Het |
Met |
T |
A |
6: 17,491,851 (GRCm39) |
Y204* |
probably null |
Het |
Or8b35 |
T |
A |
9: 37,904,382 (GRCm39) |
I198N |
possibly damaging |
Het |
Ppp1r13l |
T |
C |
7: 19,111,568 (GRCm39) |
S798P |
possibly damaging |
Het |
Ppp2r5b |
C |
T |
19: 6,284,737 (GRCm39) |
R42H |
probably damaging |
Het |
Prg2 |
T |
A |
2: 84,813,849 (GRCm39) |
I220N |
probably damaging |
Het |
Prph |
A |
G |
15: 98,954,747 (GRCm39) |
D271G |
probably damaging |
Het |
Rassf9 |
T |
A |
10: 102,348,424 (GRCm39) |
L9Q |
possibly damaging |
Het |
Rpap3 |
A |
G |
15: 97,594,458 (GRCm39) |
Y157H |
possibly damaging |
Het |
Tacstd2 |
A |
T |
6: 67,512,053 (GRCm39) |
I213N |
probably damaging |
Het |
Tlr12 |
A |
G |
4: 128,511,506 (GRCm39) |
L248P |
probably damaging |
Het |
Trip11 |
A |
T |
12: 101,850,260 (GRCm39) |
I1268N |
probably damaging |
Het |
Zp1 |
C |
T |
19: 10,895,976 (GRCm39) |
G220D |
probably damaging |
Het |
|
Other mutations in Gpr139 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00924:Gpr139
|
APN |
7 |
118,783,510 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02103:Gpr139
|
APN |
7 |
118,744,355 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02893:Gpr139
|
APN |
7 |
118,744,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R0082:Gpr139
|
UTSW |
7 |
118,744,268 (GRCm39) |
missense |
probably benign |
0.11 |
R0542:Gpr139
|
UTSW |
7 |
118,744,306 (GRCm39) |
missense |
probably benign |
|
R1912:Gpr139
|
UTSW |
7 |
118,744,102 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2148:Gpr139
|
UTSW |
7 |
118,744,192 (GRCm39) |
missense |
probably benign |
0.08 |
R4568:Gpr139
|
UTSW |
7 |
118,744,028 (GRCm39) |
missense |
probably damaging |
0.97 |
R4633:Gpr139
|
UTSW |
7 |
118,743,628 (GRCm39) |
missense |
probably damaging |
0.99 |
R5039:Gpr139
|
UTSW |
7 |
118,744,165 (GRCm39) |
missense |
probably benign |
0.45 |
R5186:Gpr139
|
UTSW |
7 |
118,744,063 (GRCm39) |
missense |
probably benign |
0.00 |
R5252:Gpr139
|
UTSW |
7 |
118,744,427 (GRCm39) |
missense |
probably benign |
0.13 |
R6518:Gpr139
|
UTSW |
7 |
118,743,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R6861:Gpr139
|
UTSW |
7 |
118,743,875 (GRCm39) |
missense |
probably benign |
0.04 |
R7194:Gpr139
|
UTSW |
7 |
118,743,896 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7213:Gpr139
|
UTSW |
7 |
118,744,322 (GRCm39) |
missense |
probably benign |
|
R7311:Gpr139
|
UTSW |
7 |
118,744,089 (GRCm39) |
missense |
probably benign |
0.06 |
R7390:Gpr139
|
UTSW |
7 |
118,743,835 (GRCm39) |
missense |
probably benign |
0.00 |
R7705:Gpr139
|
UTSW |
7 |
118,743,866 (GRCm39) |
missense |
probably benign |
0.06 |
R8101:Gpr139
|
UTSW |
7 |
118,783,510 (GRCm39) |
missense |
probably benign |
0.10 |
R8970:Gpr139
|
UTSW |
7 |
118,744,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R9395:Gpr139
|
UTSW |
7 |
118,743,811 (GRCm39) |
missense |
probably benign |
0.04 |
RF008:Gpr139
|
UTSW |
7 |
118,744,090 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Gpr139
|
UTSW |
7 |
118,743,736 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Posted On |
2015-04-16 |