Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00828:Gpr107'

11084

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) question?

Stock #

IGL00828

Quality Score

Status

Chromosome

Chromosomal Location

31042099-31106579 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 31067795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000056739 (fasta)

Gene Model

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

AlphaFold

Q8BUV8

Predicted Effect

probably null
Transcript: ENSMUST00000056433

SMART Domains

Protein: ENSMUSP00000056739
Gene: ENSMUSG00000000194

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: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	A	1: 25,527,200 (GRCm39)	I372F	possibly damaging	Het
Dcaf6	G	A	1: 165,165,916 (GRCm39)		probably benign	Het
Dph7	A	T	2: 24,861,655 (GRCm39)	Q356L	probably benign	Het
Kmt2a	T	C	9: 44,732,073 (GRCm39)		probably benign	Het
Pign	A	T	1: 105,481,845 (GRCm39)	Y816N	probably damaging	Het
Slc17a5	G	A	9: 78,485,833 (GRCm39)	A84V	probably benign	Het
Trim6	A	G	7: 103,879,950 (GRCm39)	T230A	probably benign	Het
Usp40	G	A	1: 87,906,028 (GRCm39)		probably benign	Het
Zfp980	A	T	4: 145,428,561 (GRCm39)	H430L	probably benign	Het
Zmpste24	G	A	4: 120,931,717 (GRCm39)	R303C	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
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