Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02190:Gpr107'

283833

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gpr107

Ensembl Gene

ENSMUSG00000000194

Gene Name

G protein-coupled receptor 107

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02190

Quality Score

Status

Chromosome

Chromosomal Location

31152316-31218775 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31178320 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 265 (Y265N)

Ref Sequence

ENSEMBL: ENSMUSP00000056739 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056433]

Predicted Effect

probably damaging
Transcript: ENSMUST00000056433
AA Change: Y265N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056739
Gene: ENSMUSG00000000194
AA Change: Y265N

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	C	5: 129,140,724		probably benign	Het
AI314180	A	T	4: 58,800,190	S1838R	probably benign	Het
Ano1	T	C	7: 144,618,883	E521G	probably benign	Het
As3mt	A	T	19: 46,719,945	I224F	probably benign	Het
Atp5j2	C	A	5: 145,183,832		probably benign	Het
Cacna1h	A	G	17: 25,433,026	V48A	probably benign	Het
Ctu2	T	C	8: 122,481,658		probably benign	Het
Efcab5	T	C	11: 77,121,314	R841G	probably benign	Het
Erbb3	A	T	10: 128,571,010		probably null	Het
Fkbp15	G	T	4: 62,304,822	P947T	possibly damaging	Het
Gabpb1	A	G	2: 126,653,549		probably benign	Het
Gcn1l1	G	T	5: 115,614,124	V2100L	probably damaging	Het
Gemin5	A	C	11: 58,134,842	V977G	probably damaging	Het
Gpx8	T	C	13: 113,043,309		probably benign	Het
H2-Eb2	A	T	17: 34,334,374	N178I	probably damaging	Het
Ift172	C	T	5: 31,254,458	V1587I	possibly damaging	Het
Lrrc45	A	G	11: 120,718,508	T398A	probably damaging	Het
Mmrn1	G	T	6: 60,987,193	V1059L	probably benign	Het
Morn5	A	G	2: 36,079,515	D147G	probably benign	Het
Mphosph9	T	C	5: 124,265,425	R847G	possibly damaging	Het
Nutm1	C	T	2: 112,249,406	W721*	probably null	Het
Olfr1136	A	G	2: 87,693,063	M273T	probably benign	Het
Olfr347	T	C	2: 36,734,579	L86P	probably benign	Het
Olfr531	T	C	7: 140,400,120		probably benign	Het
Rgl3	A	G	9: 21,981,708	F227L	probably benign	Het
Ropn1l	G	T	15: 31,443,341	L182I	probably benign	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Scgb1a1	A	T	19: 9,087,867	L12Q	probably damaging	Het
Scp2	A	G	4: 108,087,128	S237P	probably benign	Het
Skint5	T	C	4: 113,940,765	Q207R	possibly damaging	Het
Slc16a5	A	G	11: 115,462,609	M1V	probably null	Het
Tox2	G	A	2: 163,323,006	R522H	possibly damaging	Het
Trip12	A	T	1: 84,766,070	N505K	probably damaging	Het
Tuba1c	G	A	15: 99,037,989	D444N	unknown	Het
Vmn1r174	A	G	7: 23,754,827	E306G	unknown	Het
Vmn2r111	A	T	17: 22,570,773	F417L	probably benign	Het
Vmn2r15	A	T	5: 109,293,374	M206K	probably damaging	Het
Vmn2r95	G	T	17: 18,451,776	A592S	probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Gpr107

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Gpr107	APN	2	31171994	missense	probably benign	0.00
IGL00828:Gpr107	APN	2	31177783	critical splice acceptor site	probably null
IGL01138:Gpr107	APN	2	31172016	missense	probably benign	0.06
IGL01589:Gpr107	APN	2	31167151	splice site	probably benign
IGL02164:Gpr107	APN	2	31178286	nonsense	probably null
IGL02176:Gpr107	APN	2	31168846	missense	probably benign	0.01
IGL02234:Gpr107	APN	2	31177833	missense	probably damaging	1.00
IGL02838:Gpr107	APN	2	31214317	missense	probably benign	0.01
PIT4142001:Gpr107	UTSW	2	31167071	missense	probably benign	0.18
R0613:Gpr107	UTSW	2	31178285	missense	probably damaging	1.00
R0630:Gpr107	UTSW	2	31214297	missense	possibly damaging	0.89
R0735:Gpr107	UTSW	2	31171994	missense	probably benign	0.00
R1263:Gpr107	UTSW	2	31178255	missense	possibly damaging	0.82
R1572:Gpr107	UTSW	2	31167025	missense	probably damaging	1.00
R1675:Gpr107	UTSW	2	31167051	missense	possibly damaging	0.77
R2421:Gpr107	UTSW	2	31185529	missense	probably damaging	1.00
R4569:Gpr107	UTSW	2	31207665	splice site	probably benign
R4647:Gpr107	UTSW	2	31210501	missense	probably damaging	1.00
R4656:Gpr107	UTSW	2	31214249	missense	probably damaging	1.00
R4844:Gpr107	UTSW	2	31188674	splice site	probably null
R5385:Gpr107	UTSW	2	31214251	missense	probably benign	0.01
R5416:Gpr107	UTSW	2	31185548	missense	probably damaging	1.00
R5562:Gpr107	UTSW	2	31152363	missense	probably damaging	1.00
R5564:Gpr107	UTSW	2	31152363	missense	probably damaging	1.00
R5652:Gpr107	UTSW	2	31185589	missense	probably benign	0.16
R6075:Gpr107	UTSW	2	31152372	missense	probably benign	0.05
R7186:Gpr107	UTSW	2	31152359	start codon destroyed	possibly damaging	0.59
R7511:Gpr107	UTSW	2	31178346	missense	probably benign	0.03
R7587:Gpr107	UTSW	2	31168826	missense	probably benign
R7946:Gpr107	UTSW	2	31188704	missense	probably damaging	1.00
R8108:Gpr107	UTSW	2	31184869	missense	probably damaging	1.00
R8518:Gpr107	UTSW	2	31176927	missense	probably benign

Posted On

2015-04-16