Incidental Mutation 'IGL02176:Gpr107'
| ID |
283126 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpr107
|
| Ensembl Gene |
ENSMUSG00000000194 |
| Gene Name |
G protein-coupled receptor 107 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02176
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
31042099-31106579 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31058858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 116
(V116D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056433]
|
| AlphaFold |
Q8BUV8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056433
AA Change: V116D
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000056739
Gene: ENSMUSG00000000194
AA Change: V116D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:Lung_7-TM_R
|
213 |
504 |
3e-100 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151991
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153032
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172422
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous inactivation of this gene causes complete embryonic lethality during organogenesis, associated with reduced expression of genes implicated in the cubilin-megalin multi-ligand endocytic receptor complex. Homozygous null MEFs show defects in receptor-mediated endocytosis and recycling. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
G |
T |
10: 20,846,815 (GRCm39) |
R415L |
probably benign |
Het |
| Ankle1 |
C |
A |
8: 71,858,903 (GRCm39) |
H45Q |
probably damaging |
Het |
| Anks1b |
A |
T |
10: 89,878,530 (GRCm39) |
H113L |
probably damaging |
Het |
| Arhgap33 |
T |
A |
7: 30,223,476 (GRCm39) |
H851L |
possibly damaging |
Het |
| Atp12a |
C |
T |
14: 56,624,636 (GRCm39) |
S972L |
probably damaging |
Het |
| Atrip |
T |
C |
9: 108,896,114 (GRCm39) |
D301G |
probably benign |
Het |
| Bckdk |
A |
G |
7: 127,505,545 (GRCm39) |
T223A |
probably benign |
Het |
| C3 |
C |
A |
17: 57,533,337 (GRCm39) |
|
probably benign |
Het |
| C8g |
A |
G |
2: 25,389,122 (GRCm39) |
S154P |
probably damaging |
Het |
| Casz1 |
A |
G |
4: 149,019,076 (GRCm39) |
D459G |
probably damaging |
Het |
| Cdca7 |
A |
G |
2: 72,314,988 (GRCm39) |
T293A |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,226,658 (GRCm39) |
D2810V |
probably damaging |
Het |
| CN725425 |
G |
A |
15: 91,130,024 (GRCm39) |
V296I |
probably benign |
Het |
| Col17a1 |
A |
G |
19: 47,639,658 (GRCm39) |
M1077T |
probably benign |
Het |
| Ddhd1 |
A |
T |
14: 45,854,057 (GRCm39) |
H426Q |
probably damaging |
Het |
| Dpp6 |
C |
T |
5: 27,928,575 (GRCm39) |
T799M |
probably damaging |
Het |
| Efs |
C |
T |
14: 55,158,499 (GRCm39) |
G53D |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,890,371 (GRCm39) |
V221A |
probably benign |
Het |
| Gabre |
G |
A |
X: 71,318,259 (GRCm39) |
Q17* |
probably null |
Het |
| Gpld1 |
T |
C |
13: 25,168,192 (GRCm39) |
|
probably null |
Het |
| Huwe1 |
T |
C |
X: 150,686,964 (GRCm39) |
S2283P |
possibly damaging |
Het |
| Ksr1 |
A |
G |
11: 78,911,617 (GRCm39) |
S722P |
probably benign |
Het |
| Lmbrd2 |
A |
G |
15: 9,182,661 (GRCm39) |
E532G |
probably damaging |
Het |
| Lrfn1 |
T |
C |
7: 28,158,111 (GRCm39) |
|
probably benign |
Het |
| Lrrc4c |
A |
G |
2: 97,460,598 (GRCm39) |
D408G |
probably damaging |
Het |
| Mbp |
A |
G |
18: 82,572,670 (GRCm39) |
E122G |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,777,836 (GRCm39) |
D1197E |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,220,485 (GRCm39) |
|
probably benign |
Het |
| Or2y17 |
A |
G |
11: 49,232,133 (GRCm39) |
Y258C |
probably benign |
Het |
| Pdcd1lg2 |
A |
G |
19: 29,414,732 (GRCm39) |
E53G |
probably benign |
Het |
| Phex |
G |
T |
X: 156,051,489 (GRCm39) |
A469E |
probably damaging |
Het |
| Pigo |
A |
G |
4: 43,019,352 (GRCm39) |
S957P |
probably benign |
Het |
| Ppargc1b |
T |
A |
18: 61,443,946 (GRCm39) |
R406* |
probably null |
Het |
| Ppargc1b |
C |
A |
18: 61,443,945 (GRCm39) |
R422I |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Thnsl1 |
G |
T |
2: 21,216,665 (GRCm39) |
A140S |
possibly damaging |
Het |
| Tm9sf3 |
A |
G |
19: 41,235,076 (GRCm39) |
|
probably benign |
Het |
| Tma7 |
T |
A |
9: 108,911,153 (GRCm39) |
|
probably benign |
Het |
| Tmtc2 |
T |
G |
10: 105,184,354 (GRCm39) |
S514R |
probably benign |
Het |
| Unc79 |
G |
A |
12: 102,965,006 (GRCm39) |
|
probably null |
Het |
| Wdr89 |
A |
T |
12: 75,679,897 (GRCm39) |
I119N |
probably damaging |
Het |
| Wiz |
C |
A |
17: 32,575,876 (GRCm39) |
R843S |
probably damaging |
Het |
| Zfp275 |
T |
A |
X: 72,396,889 (GRCm39) |
S12T |
probably damaging |
Het |
|
| Other mutations in Gpr107 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00586:Gpr107
|
APN |
2 |
31,062,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00828:Gpr107
|
APN |
2 |
31,067,795 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01138:Gpr107
|
APN |
2 |
31,062,028 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01589:Gpr107
|
APN |
2 |
31,057,163 (GRCm39) |
splice site |
probably benign |
|
|
IGL02164:Gpr107
|
APN |
2 |
31,068,298 (GRCm39) |
nonsense |
probably null |
|
|
IGL02190:Gpr107
|
APN |
2 |
31,068,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02234:Gpr107
|
APN |
2 |
31,067,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02838:Gpr107
|
APN |
2 |
31,104,329 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4142001:Gpr107
|
UTSW |
2 |
31,057,083 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0613:Gpr107
|
UTSW |
2 |
31,068,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0630:Gpr107
|
UTSW |
2 |
31,104,309 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0735:Gpr107
|
UTSW |
2 |
31,062,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1263:Gpr107
|
UTSW |
2 |
31,068,267 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1572:Gpr107
|
UTSW |
2 |
31,057,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1675:Gpr107
|
UTSW |
2 |
31,057,063 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2421:Gpr107
|
UTSW |
2 |
31,075,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4569:Gpr107
|
UTSW |
2 |
31,097,677 (GRCm39) |
splice site |
probably benign |
|
|
R4647:Gpr107
|
UTSW |
2 |
31,100,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4656:Gpr107
|
UTSW |
2 |
31,104,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4844:Gpr107
|
UTSW |
2 |
31,078,686 (GRCm39) |
splice site |
probably null |
|
|
R5385:Gpr107
|
UTSW |
2 |
31,104,263 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5416:Gpr107
|
UTSW |
2 |
31,075,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5562:Gpr107
|
UTSW |
2 |
31,042,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5564:Gpr107
|
UTSW |
2 |
31,042,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5652:Gpr107
|
UTSW |
2 |
31,075,601 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6075:Gpr107
|
UTSW |
2 |
31,042,384 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7186:Gpr107
|
UTSW |
2 |
31,042,371 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
|
R7511:Gpr107
|
UTSW |
2 |
31,068,358 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7587:Gpr107
|
UTSW |
2 |
31,058,838 (GRCm39) |
missense |
probably benign |
|
|
R7946:Gpr107
|
UTSW |
2 |
31,078,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8108:Gpr107
|
UTSW |
2 |
31,074,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8518:Gpr107
|
UTSW |
2 |
31,066,939 (GRCm39) |
missense |
probably benign |
|
|
R9320:Gpr107
|
UTSW |
2 |
31,078,728 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9661:Gpr107
|
UTSW |
2 |
31,057,075 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Posted On |
2015-04-16 |
Incidental Mutation