Incidental Mutation 'R4568:Gpr139'
| ID |
341945 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr139
|
| Ensembl Gene |
ENSMUSG00000066197 |
| Gene Name |
G protein-coupled receptor 139 |
| Synonyms |
LOC209776, GPRg1 |
| MMRRC Submission |
041792-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4568 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
118739970-118783761 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 118744028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 186
(V186M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084650]
|
| AlphaFold |
Q80UC8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084650
AA Change: V186M
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000081700
Gene: ENSMUSG00000066197
AA Change: V186M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
35 |
277 |
2.9e-18 |
PFAM |
|
| Meta Mutation Damage Score |
0.1470 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (36/36) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
T |
A |
7: 119,162,740 (GRCm39) |
W5R |
probably benign |
Het |
| Bik |
T |
C |
15: 83,425,645 (GRCm39) |
|
probably null |
Het |
| Col6a1 |
A |
T |
10: 76,555,031 (GRCm39) |
|
probably benign |
Het |
| Crem |
A |
G |
18: 3,299,175 (GRCm39) |
I83T |
probably damaging |
Het |
| Csn1s1 |
G |
A |
5: 87,828,763 (GRCm39) |
V276I |
possibly damaging |
Het |
| Ctnna3 |
C |
T |
10: 63,688,588 (GRCm39) |
T344M |
possibly damaging |
Het |
| Dgcr8 |
G |
A |
16: 18,098,258 (GRCm39) |
P378S |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Krba1 |
A |
G |
6: 48,386,657 (GRCm39) |
T422A |
probably damaging |
Het |
| Lgals8 |
T |
G |
13: 12,468,254 (GRCm39) |
Y125S |
probably damaging |
Het |
| Map4k1 |
G |
A |
7: 28,686,079 (GRCm39) |
G107D |
probably damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,702,448 (GRCm39) |
Y599* |
probably null |
Het |
| Omt2b |
T |
A |
9: 78,235,529 (GRCm39) |
|
probably benign |
Het |
| Or1d2 |
A |
G |
11: 74,256,035 (GRCm39) |
E180G |
probably damaging |
Het |
| Or9s15 |
A |
T |
1: 92,525,113 (GRCm39) |
M291L |
probably benign |
Het |
| Pga5 |
A |
G |
19: 10,649,216 (GRCm39) |
Y235H |
probably damaging |
Het |
| Phldb2 |
T |
A |
16: 45,598,081 (GRCm39) |
K869* |
probably null |
Het |
| Pik3cb |
T |
C |
9: 98,972,355 (GRCm39) |
M268V |
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,717,977 (GRCm39) |
D624G |
probably benign |
Het |
| Plxna4 |
T |
A |
6: 32,129,873 (GRCm39) |
I1817F |
probably damaging |
Het |
| Psmg3 |
A |
G |
5: 139,812,004 (GRCm39) |
I32T |
probably damaging |
Het |
| Ptpn4 |
T |
C |
1: 119,607,789 (GRCm39) |
E757G |
probably damaging |
Het |
| Rasl2-9 |
AGG |
A |
7: 5,128,374 (GRCm39) |
|
probably null |
Het |
| Ripply3 |
T |
A |
16: 94,136,688 (GRCm39) |
D116E |
probably damaging |
Het |
| Robo4 |
T |
C |
9: 37,316,118 (GRCm39) |
V263A |
possibly damaging |
Het |
| Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
| Spef2 |
T |
C |
15: 9,647,303 (GRCm39) |
H1008R |
probably damaging |
Het |
| Stag1 |
T |
C |
9: 100,730,722 (GRCm39) |
V379A |
probably damaging |
Het |
| Tasor |
A |
T |
14: 27,198,658 (GRCm39) |
|
probably null |
Het |
| Tbc1d9 |
A |
G |
8: 83,997,806 (GRCm39) |
E1121G |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,268,710 (GRCm39) |
|
probably benign |
Het |
| Trpv6 |
G |
T |
6: 41,603,503 (GRCm39) |
P206H |
probably damaging |
Het |
| Vmn2r63 |
T |
C |
7: 42,583,250 (GRCm39) |
|
probably null |
Het |
| Vmn2r65 |
C |
T |
7: 84,596,677 (GRCm39) |
C126Y |
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 |
|
IGL02714:Gpr139
|
APN |
7 |
118,744,342 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACATGATGTGGACCAGCC -3'
(R):5'- TGTCTGTCACCCACTCAAATAC -3'
Sequencing Primer
(F):5'- ACCAGCCAAGGGTTCTGGATG -3'
(R):5'- TACCACACAGTTTCCTACCCAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation