Incidental Mutation 'IGL00586:Gpr107'
| ID |
11082 |
| 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 # |
IGL00586
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
31042099-31106579 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31062006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 145
(F145I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056433]
|
| AlphaFold |
Q8BUV8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056433
AA Change: F145I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000056739
Gene: ENSMUSG00000000194
AA Change: F145I
| 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
|
| Meta Mutation Damage Score |
0.0717 |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl5b |
T |
C |
2: 15,074,746 (GRCm39) |
S76P |
probably benign |
Het |
| Asap3 |
A |
C |
4: 135,933,879 (GRCm39) |
D17A |
probably damaging |
Het |
| Ccdc24 |
C |
T |
4: 117,729,243 (GRCm39) |
R78H |
probably damaging |
Het |
| Crp |
T |
C |
1: 172,526,568 (GRCm39) |
F218L |
probably benign |
Het |
| Dab2 |
T |
C |
15: 6,459,306 (GRCm39) |
L385P |
probably benign |
Het |
| Dip2c |
C |
A |
13: 9,660,791 (GRCm39) |
T855N |
probably damaging |
Het |
| Dnai7 |
A |
T |
6: 145,137,302 (GRCm39) |
F269I |
possibly damaging |
Het |
| Dync2i1 |
A |
T |
12: 116,205,400 (GRCm39) |
D396E |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,887,460 (GRCm39) |
V541A |
probably damaging |
Het |
| Gbgt1 |
A |
T |
2: 28,392,207 (GRCm39) |
|
probably null |
Het |
| Gm6871 |
A |
T |
7: 41,195,845 (GRCm39) |
D297E |
possibly damaging |
Het |
| Itgb6 |
T |
G |
2: 60,450,696 (GRCm39) |
D581A |
probably benign |
Het |
| Lce1a1 |
C |
T |
3: 92,554,470 (GRCm39) |
M1I |
probably null |
Het |
| Lmbrd2 |
G |
A |
15: 9,157,382 (GRCm39) |
V207M |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,395,129 (GRCm39) |
V45E |
unknown |
Het |
| Mybpc2 |
A |
G |
7: 44,154,806 (GRCm39) |
V977A |
probably damaging |
Het |
| Oas1c |
T |
C |
5: 120,946,744 (GRCm39) |
T29A |
probably benign |
Het |
| Pdzd2 |
G |
T |
15: 12,365,853 (GRCm39) |
|
probably null |
Het |
| Plk2 |
T |
C |
13: 110,532,912 (GRCm39) |
Y158H |
possibly damaging |
Het |
| Prss1l |
T |
C |
6: 41,373,049 (GRCm39) |
I107T |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,443,983 (GRCm39) |
|
probably benign |
Het |
| Rnf17 |
C |
T |
14: 56,658,539 (GRCm39) |
T76I |
probably damaging |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,854,350 (GRCm39) |
V624A |
possibly damaging |
Het |
| Sin3b |
T |
C |
8: 73,483,628 (GRCm39) |
V1005A |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,182,495 (GRCm39) |
V358A |
possibly damaging |
Het |
| Zfp120 |
T |
C |
2: 149,961,748 (GRCm39) |
I67V |
possibly damaging |
Het |
| Zfp942 |
A |
T |
17: 22,147,605 (GRCm39) |
H341Q |
probably damaging |
Het |
|
| Other mutations in Gpr107 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation