Incidental Mutation 'IGL02234:Gpr107'
| ID |
285853 |
| 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 # |
IGL02234
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
31042099-31106579 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31067845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 222
(Y222H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056433]
|
| AlphaFold |
Q8BUV8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056433
AA Change: Y222H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000056739
Gene: ENSMUSG00000000194
AA Change: Y222H
| 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: 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
T |
6: 121,645,179 (GRCm39) |
T1010M |
possibly damaging |
Het |
| Atr |
A |
G |
9: 95,829,303 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
A |
T |
1: 179,978,756 (GRCm39) |
K1585* |
probably null |
Het |
| Cdh19 |
T |
C |
1: 110,859,956 (GRCm39) |
D175G |
probably damaging |
Het |
| Celsr3 |
G |
T |
9: 108,707,159 (GRCm39) |
R1214L |
probably benign |
Het |
| Chchd1 |
T |
C |
14: 20,753,478 (GRCm39) |
|
probably null |
Het |
| Col4a1 |
T |
C |
8: 11,266,713 (GRCm39) |
K1165E |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,890,631 (GRCm39) |
F1888L |
possibly damaging |
Het |
| Csmd3 |
C |
A |
15: 47,811,512 (GRCm39) |
R1193L |
probably damaging |
Het |
| Cyp2d11 |
T |
A |
15: 82,274,340 (GRCm39) |
H347L |
probably benign |
Het |
| Cyp4f13 |
A |
G |
17: 33,143,748 (GRCm39) |
|
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,549,039 (GRCm39) |
V193A |
probably benign |
Het |
| Dus4l |
T |
C |
12: 31,691,495 (GRCm39) |
|
probably benign |
Het |
| Epc1 |
G |
A |
18: 6,439,938 (GRCm39) |
H79Y |
probably damaging |
Het |
| Gm12588 |
T |
A |
11: 121,799,151 (GRCm39) |
|
|
Het |
| Gzmn |
C |
T |
14: 56,406,464 (GRCm39) |
|
probably null |
Het |
| Helq |
A |
G |
5: 100,944,336 (GRCm39) |
I258T |
possibly damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,880,661 (GRCm39) |
K137R |
probably benign |
Het |
| Htr1f |
T |
A |
16: 64,746,430 (GRCm39) |
R287S |
probably damaging |
Het |
| Il20ra |
A |
C |
10: 19,625,018 (GRCm39) |
D99A |
probably damaging |
Het |
| Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
| Mboat7 |
A |
G |
7: 3,694,350 (GRCm39) |
Y34H |
probably damaging |
Het |
| Mid2 |
T |
C |
X: 139,664,418 (GRCm39) |
S646P |
probably damaging |
Het |
| Msh6 |
T |
C |
17: 88,294,229 (GRCm39) |
S995P |
probably damaging |
Het |
| Mtmr10 |
A |
G |
7: 63,949,350 (GRCm39) |
I108V |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,226,842 (GRCm39) |
T1395M |
probably benign |
Het |
| Nlrp4f |
A |
G |
13: 65,342,302 (GRCm39) |
F448L |
probably damaging |
Het |
| Odc1 |
C |
A |
12: 17,598,621 (GRCm39) |
D220E |
possibly damaging |
Het |
| Or8k33 |
T |
C |
2: 86,383,610 (GRCm39) |
N286S |
probably damaging |
Het |
| Pax7 |
A |
G |
4: 139,555,901 (GRCm39) |
I189T |
probably damaging |
Het |
| Pcdh12 |
T |
A |
18: 38,416,588 (GRCm39) |
H179L |
probably damaging |
Het |
| Pcdh15 |
A |
T |
10: 74,467,694 (GRCm39) |
M1836L |
probably benign |
Het |
| Psmc5 |
T |
C |
11: 106,153,836 (GRCm39) |
V390A |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,368,766 (GRCm39) |
|
probably benign |
Het |
| Sema5a |
C |
T |
15: 32,679,318 (GRCm39) |
R866C |
probably damaging |
Het |
| Stox2 |
A |
G |
8: 47,646,647 (GRCm39) |
F271S |
probably damaging |
Het |
| Tpgs2 |
T |
C |
18: 25,282,301 (GRCm39) |
|
probably null |
Het |
| Ttll8 |
T |
A |
15: 88,798,252 (GRCm39) |
I828F |
possibly damaging |
Het |
| Vmn1r7 |
T |
C |
6: 57,001,537 (GRCm39) |
Y241C |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
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 |
|
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