Incidental Mutation 'R6075:Gpr107'
| ID |
482681 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr107
|
| Ensembl Gene |
ENSMUSG00000000194 |
| Gene Name |
G protein-coupled receptor 107 |
| Synonyms |
|
| MMRRC Submission |
044236-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6075 (G1)
|
| Quality Score |
169.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
31042099-31106579 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31042384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 5
(V5E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056433]
|
| AlphaFold |
Q8BUV8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056433
AA Change: V5E
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000056739
Gene: ENSMUSG00000000194
AA Change: V5E
| 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: ENSMUST00000133550
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148230
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153032
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172422
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194084
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Areg |
A |
T |
5: 91,291,456 (GRCm39) |
K133M |
probably damaging |
Het |
| Atxn2l |
A |
T |
7: 126,091,689 (GRCm39) |
D1076E |
possibly damaging |
Het |
| Barhl1 |
T |
C |
2: 28,805,231 (GRCm39) |
Y154C |
probably damaging |
Het |
| BC048507 |
A |
G |
13: 68,011,823 (GRCm39) |
T67A |
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,307,491 (GRCm39) |
I1746F |
probably damaging |
Het |
| Ccdc34 |
T |
C |
2: 109,874,580 (GRCm39) |
I313T |
possibly damaging |
Het |
| Cma1 |
T |
A |
14: 56,179,771 (GRCm39) |
I138F |
probably damaging |
Het |
| Col5a2 |
A |
G |
1: 45,542,008 (GRCm39) |
S23P |
unknown |
Het |
| Csmd2 |
C |
A |
4: 128,380,658 (GRCm39) |
S2071R |
probably benign |
Het |
| Cyp2j11 |
T |
G |
4: 96,233,322 (GRCm39) |
N125H |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,262,368 (GRCm39) |
R2879G |
possibly damaging |
Het |
| Dnah11 |
A |
T |
12: 118,068,586 (GRCm39) |
C1591S |
probably damaging |
Het |
| Dock9 |
C |
T |
14: 121,783,385 (GRCm39) |
R2038H |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fbxo21 |
G |
A |
5: 118,126,948 (GRCm39) |
R233H |
probably damaging |
Het |
| Firrm |
T |
C |
1: 163,805,656 (GRCm39) |
Y316C |
probably damaging |
Het |
| Gm6526 |
A |
G |
14: 43,986,331 (GRCm39) |
I86V |
probably damaging |
Het |
| Hat1 |
A |
T |
2: 71,240,585 (GRCm39) |
D93V |
probably benign |
Het |
| Kctd21 |
T |
A |
7: 96,996,614 (GRCm39) |
L29Q |
probably damaging |
Het |
| Kl |
C |
G |
5: 150,876,466 (GRCm39) |
F95L |
probably damaging |
Het |
| Lsamp |
A |
G |
16: 41,954,788 (GRCm39) |
K229E |
probably benign |
Het |
| Mcm5 |
A |
G |
8: 75,840,825 (GRCm39) |
D210G |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,689,581 (GRCm39) |
V930A |
possibly damaging |
Het |
| Megf6 |
T |
A |
4: 154,347,056 (GRCm39) |
C652* |
probably null |
Het |
| Nae1 |
A |
T |
8: 105,251,001 (GRCm39) |
L196H |
possibly damaging |
Het |
| Ncor1 |
G |
T |
11: 62,208,675 (GRCm39) |
D156E |
probably damaging |
Het |
| Nop14 |
A |
T |
5: 34,817,235 (GRCm39) |
V52E |
probably damaging |
Het |
| Nova2 |
G |
A |
7: 18,691,794 (GRCm39) |
A244T |
unknown |
Het |
| Parp14 |
A |
T |
16: 35,677,389 (GRCm39) |
C860S |
probably damaging |
Het |
| Ptpn4 |
T |
C |
1: 119,692,866 (GRCm39) |
Y161C |
probably damaging |
Het |
| Ptpn9 |
T |
A |
9: 56,968,430 (GRCm39) |
M590K |
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,361,621 (GRCm39) |
I2130T |
probably damaging |
Het |
| Pudp |
C |
A |
18: 50,701,299 (GRCm39) |
G145W |
probably damaging |
Het |
| Pxk |
A |
G |
14: 8,150,964 (GRCm38) |
K423R |
probably benign |
Het |
| Ryr1 |
A |
G |
7: 28,786,863 (GRCm39) |
S1584P |
probably damaging |
Het |
| Scap |
G |
A |
9: 110,207,845 (GRCm39) |
R518H |
probably damaging |
Het |
| Slc5a12 |
T |
C |
2: 110,447,092 (GRCm39) |
L200P |
probably damaging |
Het |
| Sntg1 |
T |
A |
1: 8,749,338 (GRCm39) |
*72Y |
probably null |
Het |
| Speer4f1 |
A |
C |
5: 17,684,482 (GRCm39) |
Q170P |
possibly damaging |
Het |
| Taar7d |
A |
C |
10: 23,903,558 (GRCm39) |
I147L |
probably benign |
Het |
| Tet2 |
T |
C |
3: 133,177,196 (GRCm39) |
K1284E |
possibly damaging |
Het |
| Trpm2 |
A |
C |
10: 77,770,877 (GRCm39) |
|
probably null |
Het |
| Washc2 |
T |
A |
6: 116,204,327 (GRCm39) |
S412T |
probably benign |
Het |
| Zfyve26 |
A |
G |
12: 79,340,628 (GRCm39) |
V82A |
possibly 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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAATTGAAGAGTGCCGAGG -3'
(R):5'- GAACTTAGGAGATCCCGCTG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation