Incidental Mutation 'IGL02838:Gpr107'
ID |
361746 |
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 # |
IGL02838
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
31042099-31106579 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 31104329 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 545
(G545S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056739
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056433]
|
AlphaFold |
Q8BUV8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056433
AA Change: G545S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000056739 Gene: ENSMUSG00000000194 AA Change: G545S
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: ENSMUST00000146747
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146769
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147099
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169333
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arl4a |
T |
C |
12: 40,086,303 (GRCm39) |
E148G |
probably benign |
Het |
AW551984 |
A |
T |
9: 39,505,939 (GRCm39) |
F419L |
probably damaging |
Het |
Brpf3 |
G |
A |
17: 29,054,758 (GRCm39) |
R1100Q |
probably benign |
Het |
Cacna1e |
A |
G |
1: 154,321,394 (GRCm39) |
C1222R |
probably damaging |
Het |
Cacna2d3 |
T |
A |
14: 29,022,785 (GRCm39) |
|
probably null |
Het |
Ccdc146 |
T |
A |
5: 21,502,567 (GRCm39) |
M775L |
probably benign |
Het |
Ccdc60 |
A |
G |
5: 116,272,169 (GRCm39) |
S422P |
probably damaging |
Het |
Cdh10 |
A |
T |
15: 18,899,849 (GRCm39) |
N59Y |
probably damaging |
Het |
Cfap61 |
T |
A |
2: 145,789,084 (GRCm39) |
C29* |
probably null |
Het |
Fgd5 |
T |
A |
6: 91,964,655 (GRCm39) |
M138K |
probably benign |
Het |
Greb1l |
G |
A |
18: 10,560,430 (GRCm39) |
A1897T |
probably damaging |
Het |
Hcls1 |
A |
G |
16: 36,782,781 (GRCm39) |
D439G |
probably damaging |
Het |
Iars1 |
T |
A |
13: 49,843,965 (GRCm39) |
N146K |
possibly damaging |
Het |
Itga5 |
C |
T |
15: 103,260,036 (GRCm39) |
A619T |
probably damaging |
Het |
Maml3 |
A |
G |
3: 51,597,511 (GRCm39) |
F412L |
probably damaging |
Het |
Mis18bp1 |
T |
C |
12: 65,183,600 (GRCm39) |
Y924C |
probably damaging |
Het |
Mtss1 |
T |
C |
15: 58,953,364 (GRCm39) |
I5V |
probably benign |
Het |
Ninl |
A |
T |
2: 150,797,631 (GRCm39) |
|
probably null |
Het |
Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
Nts |
C |
T |
10: 102,318,290 (GRCm39) |
V138M |
probably damaging |
Het |
Or4q3 |
A |
G |
14: 50,583,312 (GRCm39) |
S165P |
probably damaging |
Het |
Or5b116 |
T |
A |
19: 13,423,299 (GRCm39) |
S308T |
probably benign |
Het |
Pard3 |
A |
G |
8: 128,153,128 (GRCm39) |
R900G |
probably damaging |
Het |
Rbfa |
T |
C |
18: 80,236,050 (GRCm39) |
H233R |
probably benign |
Het |
Rundc3a |
T |
A |
11: 102,288,521 (GRCm39) |
|
probably benign |
Het |
Setdb1 |
G |
T |
3: 95,244,579 (GRCm39) |
|
probably null |
Het |
Synpo |
T |
A |
18: 60,736,872 (GRCm39) |
N358I |
probably damaging |
Het |
Tnxb |
A |
T |
17: 34,908,606 (GRCm39) |
T1543S |
possibly damaging |
Het |
Ugt1a8 |
T |
A |
1: 88,016,399 (GRCm39) |
Y271N |
probably benign |
Het |
Vmn2r105 |
A |
C |
17: 20,447,847 (GRCm39) |
F326V |
probably damaging |
Het |
Vps13c |
G |
A |
9: 67,883,133 (GRCm39) |
R3560H |
probably damaging |
Het |
Vps13d |
C |
T |
4: 144,801,595 (GRCm39) |
R3510Q |
probably benign |
Het |
Zcchc8 |
A |
T |
5: 123,857,546 (GRCm39) |
|
probably benign |
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 |
|
IGL02176:Gpr107
|
APN |
2 |
31,058,858 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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 |
2015-12-18 |