Incidental Mutation 'R5564:Gpr107'
| ID |
436725 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr107
|
| Ensembl Gene |
ENSMUSG00000000194 |
| Gene Name |
G protein-coupled receptor 107 |
| Synonyms |
|
| MMRRC Submission |
043121-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5564 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
31042099-31106579 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 31042375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 2
(A2V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056433]
|
| AlphaFold |
Q8BUV8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056433
AA Change: A2V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000056739
Gene: ENSMUSG00000000194
AA Change: A2V
| 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
|
| Meta Mutation Damage Score |
0.1749 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| Validation Efficiency |
98% (57/58) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
T |
C |
3: 59,659,513 (GRCm39) |
V322A |
probably benign |
Het |
| Abca8b |
G |
T |
11: 109,825,407 (GRCm39) |
L1598M |
probably benign |
Het |
| Adam4 |
T |
C |
12: 81,466,348 (GRCm39) |
T758A |
probably benign |
Het |
| B3galnt2 |
T |
C |
13: 14,169,814 (GRCm39) |
I424T |
probably damaging |
Het |
| Cacna1g |
T |
C |
11: 94,321,312 (GRCm39) |
Y1316C |
probably damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,517,517 (GRCm39) |
S388P |
probably damaging |
Het |
| Ccdc157 |
A |
G |
11: 4,098,765 (GRCm39) |
L247S |
probably damaging |
Het |
| Cdh8 |
A |
G |
8: 99,757,498 (GRCm39) |
I700T |
possibly damaging |
Het |
| Cdhr3 |
G |
T |
12: 33,098,985 (GRCm39) |
Y535* |
probably null |
Het |
| Clasp2 |
T |
C |
9: 113,641,836 (GRCm39) |
|
probably null |
Het |
| Col16a1 |
T |
A |
4: 129,947,151 (GRCm39) |
D165E |
probably damaging |
Het |
| Col9a1 |
A |
T |
1: 24,234,436 (GRCm39) |
|
probably benign |
Het |
| Cpa3 |
A |
T |
3: 20,296,307 (GRCm39) |
I10N |
possibly damaging |
Het |
| Cstf3 |
T |
A |
2: 104,439,347 (GRCm39) |
|
probably benign |
Het |
| Dnah3 |
C |
A |
7: 119,570,689 (GRCm39) |
|
probably null |
Het |
| E2f6 |
T |
C |
12: 16,874,706 (GRCm39) |
C263R |
probably benign |
Het |
| Eps8l2 |
C |
A |
7: 140,936,534 (GRCm39) |
Q288K |
possibly damaging |
Het |
| Fam193a |
T |
A |
5: 34,578,199 (GRCm39) |
V231D |
probably damaging |
Het |
| Gjd3 |
C |
T |
11: 102,691,029 (GRCm39) |
G325S |
probably benign |
Het |
| Gpatch8 |
T |
A |
11: 102,429,111 (GRCm39) |
E39D |
unknown |
Het |
| Kansl3 |
G |
T |
1: 36,385,045 (GRCm39) |
H629N |
possibly damaging |
Het |
| Kcna10 |
C |
A |
3: 107,101,545 (GRCm39) |
H59N |
probably benign |
Het |
| Kitl |
A |
T |
10: 99,915,886 (GRCm39) |
E138D |
possibly damaging |
Het |
| Kpna2 |
T |
C |
11: 106,881,571 (GRCm39) |
K353R |
probably damaging |
Het |
| M1ap |
T |
A |
6: 82,958,798 (GRCm39) |
I143N |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,420,538 (GRCm39) |
S239P |
possibly damaging |
Het |
| Med13l |
T |
A |
5: 118,880,105 (GRCm39) |
S1066T |
probably damaging |
Het |
| Mettl23 |
G |
T |
11: 116,739,865 (GRCm39) |
E47* |
probably null |
Het |
| Or52i2 |
T |
C |
7: 102,319,433 (GRCm39) |
F102S |
probably damaging |
Het |
| Or5af1 |
C |
T |
11: 58,722,039 (GRCm39) |
Q20* |
probably null |
Het |
| Proca1 |
T |
A |
11: 78,092,699 (GRCm39) |
D48E |
possibly damaging |
Het |
| Rab34 |
T |
G |
11: 78,082,458 (GRCm39) |
V227G |
probably damaging |
Het |
| Rab7 |
A |
T |
6: 87,990,632 (GRCm39) |
L14Q |
probably damaging |
Het |
| Rasgef1c |
C |
T |
11: 49,847,934 (GRCm39) |
S23F |
probably benign |
Het |
| Rit1 |
A |
G |
3: 88,633,457 (GRCm39) |
|
probably benign |
Het |
| Scin |
T |
C |
12: 40,174,568 (GRCm39) |
T172A |
probably benign |
Het |
| Scmh1 |
C |
A |
4: 120,325,575 (GRCm39) |
N97K |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,846,162 (GRCm39) |
E655G |
possibly damaging |
Het |
| Slc22a15 |
A |
G |
3: 101,771,905 (GRCm39) |
V243A |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,789,042 (GRCm39) |
|
probably benign |
Het |
| Smim7 |
C |
T |
8: 73,324,867 (GRCm39) |
G3R |
probably damaging |
Het |
| Snurf |
C |
T |
7: 59,645,282 (GRCm39) |
R44H |
possibly damaging |
Het |
| Snx13 |
G |
A |
12: 35,174,471 (GRCm39) |
A667T |
possibly damaging |
Het |
| Sowaha |
T |
G |
11: 53,369,590 (GRCm39) |
H382P |
probably damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tmem259 |
G |
T |
10: 79,814,442 (GRCm39) |
|
probably null |
Het |
| Topbp1 |
A |
G |
9: 103,211,277 (GRCm39) |
T945A |
probably damaging |
Het |
| Tor1aip2 |
T |
C |
1: 155,939,307 (GRCm39) |
|
probably benign |
Het |
| Ube3b |
T |
C |
5: 114,527,136 (GRCm39) |
V118A |
probably damaging |
Het |
| Usp38 |
T |
C |
8: 81,711,717 (GRCm39) |
K773E |
probably damaging |
Het |
| Wnk1 |
G |
A |
6: 119,925,852 (GRCm39) |
|
probably benign |
Het |
| Zfp871 |
A |
G |
17: 32,994,842 (GRCm39) |
V111A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCCAATTGAAGAGTGCCG -3'
(R):5'- AACTTAGGAGATCCCGCTGG -3'
Sequencing Primer
(F):5'- AAGAGTGCCGAGGTGGTCC -3'
(R):5'- ATCCCGCTGGGCTGAAGTTG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation