Incidental Mutation 'R8518:Gpr107'
ID |
656237 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpr107
|
Ensembl Gene |
ENSMUSG00000000194 |
Gene Name |
G protein-coupled receptor 107 |
Synonyms |
|
MMRRC Submission |
067850-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8518 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
31042099-31106579 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 31066939 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 196
(H196Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056739
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056433]
|
AlphaFold |
Q8BUV8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056433
AA Change: H196Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000056739 Gene: ENSMUSG00000000194 AA Change: H196Q
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
Pfam:Lung_7-TM_R
|
213 |
504 |
3e-100 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
A |
G |
16: 20,223,398 (GRCm39) |
V170A |
possibly damaging |
Het |
Adamts2 |
A |
G |
11: 50,666,957 (GRCm39) |
E418G |
probably damaging |
Het |
Adra2b |
T |
C |
2: 127,206,056 (GRCm39) |
L191P |
probably damaging |
Het |
Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
Bag2 |
T |
C |
1: 33,787,358 (GRCm39) |
I55V |
probably benign |
Het |
Bltp2 |
T |
C |
11: 78,156,064 (GRCm39) |
L192P |
possibly damaging |
Het |
Bmpr1b |
T |
C |
3: 141,563,343 (GRCm39) |
I200M |
possibly damaging |
Het |
Cacna1i |
C |
A |
15: 80,243,095 (GRCm39) |
Y417* |
probably null |
Het |
Cdc7 |
T |
A |
5: 107,120,864 (GRCm39) |
I162N |
probably damaging |
Het |
Chchd1 |
T |
C |
14: 20,754,211 (GRCm39) |
I89T |
probably benign |
Het |
Cxcl16 |
T |
C |
11: 70,346,510 (GRCm39) |
N224S |
probably benign |
Het |
Dync1i1 |
T |
G |
6: 5,913,330 (GRCm39) |
L188V |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,051,452 (GRCm39) |
V3161A |
probably benign |
Het |
E2f3 |
T |
A |
13: 30,097,453 (GRCm39) |
K303N |
probably damaging |
Het |
Fermt1 |
T |
C |
2: 132,748,635 (GRCm39) |
T663A |
probably benign |
Het |
Fhod3 |
A |
G |
18: 25,189,390 (GRCm39) |
R611G |
probably damaging |
Het |
Frem3 |
A |
T |
8: 81,339,224 (GRCm39) |
S506C |
probably damaging |
Het |
Gm10318 |
T |
A |
10: 77,688,712 (GRCm39) |
M6K |
unknown |
Het |
Gm6563 |
T |
A |
19: 23,653,480 (GRCm39) |
V90E |
probably damaging |
Het |
Gpc6 |
T |
C |
14: 117,163,384 (GRCm39) |
S13P |
probably benign |
Het |
Heatr1 |
T |
G |
13: 12,425,415 (GRCm39) |
D618E |
probably benign |
Het |
Lrrc27 |
T |
C |
7: 138,808,690 (GRCm39) |
V391A |
probably benign |
Het |
Mindy3 |
T |
G |
2: 12,360,154 (GRCm39) |
K349N |
probably damaging |
Het |
Mllt10 |
T |
C |
2: 18,151,670 (GRCm39) |
V261A |
probably damaging |
Het |
Mrpl48 |
G |
A |
7: 100,232,269 (GRCm39) |
|
probably benign |
Het |
Msantd5f5 |
T |
A |
4: 73,542,641 (GRCm39) |
L47Q |
probably damaging |
Het |
Muc16 |
T |
C |
9: 18,430,927 (GRCm39) |
I8062V |
probably benign |
Het |
Myo7a |
T |
C |
7: 97,740,270 (GRCm39) |
N575D |
possibly damaging |
Het |
Nfrkb |
T |
C |
9: 31,311,261 (GRCm39) |
L370P |
probably damaging |
Het |
Numbl |
T |
C |
7: 26,964,361 (GRCm39) |
V57A |
probably benign |
Het |
Or51t4 |
T |
C |
7: 102,597,804 (GRCm39) |
V44A |
probably damaging |
Het |
Or5b12 |
G |
A |
19: 12,896,959 (GRCm39) |
T238I |
probably damaging |
Het |
Or6y1 |
T |
A |
1: 174,276,742 (GRCm39) |
C184* |
probably null |
Het |
Pdia2 |
A |
T |
17: 26,417,144 (GRCm39) |
L100* |
probably null |
Het |
Prpf31 |
A |
T |
7: 3,635,742 (GRCm39) |
N105I |
probably damaging |
Het |
Rbm20 |
A |
G |
19: 53,839,923 (GRCm39) |
N971D |
probably benign |
Het |
Rnf213 |
T |
A |
11: 119,353,043 (GRCm39) |
M3980K |
|
Het |
Skint6 |
A |
G |
4: 113,095,465 (GRCm39) |
F65L |
possibly damaging |
Het |
Smpd4 |
T |
A |
16: 17,458,884 (GRCm39) |
C536S |
possibly damaging |
Het |
Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
Tfpt |
A |
G |
7: 3,632,065 (GRCm39) |
F15S |
possibly damaging |
Het |
Tnp2 |
A |
G |
16: 10,606,372 (GRCm39) |
C32R |
possibly damaging |
Het |
Tns3 |
A |
T |
11: 8,442,971 (GRCm39) |
V464E |
probably damaging |
Het |
Tpp2 |
T |
A |
1: 44,019,545 (GRCm39) |
L824H |
probably damaging |
Het |
Trav15-1-dv6-1 |
A |
G |
14: 53,797,666 (GRCm39) |
D105G |
probably benign |
Het |
Ttc3 |
T |
C |
16: 94,258,238 (GRCm39) |
S1679P |
probably benign |
Het |
Xpo7 |
A |
G |
14: 70,944,837 (GRCm39) |
Y19H |
probably damaging |
Het |
Zswim4 |
G |
A |
8: 84,938,586 (GRCm39) |
R1099W |
probably 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 |
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 |
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'- ATCTGTAGTAGGATCCAGTGCC -3'
(R):5'- AGAGGCTCAGAACTTAGTTAGC -3'
Sequencing Primer
(F):5'- CTGGTGTGTCTCAAAACTACAATG -3'
(R):5'- GCTCAGAACTTAGTTAGCAGATG -3'
|
Posted On |
2020-10-20 |