Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01811:Or4c101'

154264

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or4c101

Ensembl Gene

ENSMUSG00000068809

Gene Name

olfactory receptor family 4 subfamily C member 101

Synonyms

MOR238-2, Olfr1188, GA_x6K02T2Q125-50046879-50047784

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL01811

Quality Score

Status

Chromosome

Chromosomal Location

88389795-88390762 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88390409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 199 (L199F)

Ref Sequence

ENSEMBL: ENSMUSP00000088202 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090701] [ENSMUST00000217131]

AlphaFold

A2AV10

Predicted Effect

probably benign
Transcript: ENSMUST00000090701
AA Change: L199F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000088202
Gene: ENSMUSG00000068809
AA Change: L199F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	36	309	5.9e-49	PFAM
Pfam:7tm_1	46	292	1.5e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217131
AA Change: L188F

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aggf1	G	A	13: 95,488,080 (GRCm39)	T689I	probably benign	Het
Ap1m2	A	G	9: 21,210,600 (GRCm39)	V343A	probably benign	Het
Ccbe1	A	G	18: 66,199,798 (GRCm39)		probably null	Het
Cd1d1	T	C	3: 86,903,895 (GRCm39)	I204V	possibly damaging	Het
Cpeb3	G	A	19: 37,022,008 (GRCm39)	R613C	probably damaging	Het
Dock9	A	T	14: 121,796,440 (GRCm39)	F1821I	probably damaging	Het
Dst	A	T	1: 34,203,173 (GRCm39)	Q694L	probably damaging	Het
Kansl1l	A	G	1: 66,762,462 (GRCm39)	S802P	probably damaging	Het
Meltf	T	C	16: 31,707,803 (GRCm39)	C397R	probably damaging	Het
Myo1d	A	T	11: 80,583,823 (GRCm39)	V63D	probably damaging	Het
Pycr1	T	A	11: 120,532,092 (GRCm39)	S225C	probably benign	Het
Tbc1d9	T	A	8: 83,960,307 (GRCm39)	C187S	probably damaging	Het
Tnfrsf21	A	C	17: 43,348,504 (GRCm39)	I39L	probably benign	Het
Tnn	T	C	1: 159,934,705 (GRCm39)	D972G	probably damaging	Het

Other mutations in Or4c101

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1525:Or4c101	UTSW	2	88,389,985 (GRCm39)	missense	probably damaging	1.00
R1530:Or4c101	UTSW	2	88,389,827 (GRCm39)	missense	probably benign	0.23
R1703:Or4c101	UTSW	2	88,390,599 (GRCm39)	missense	possibly damaging	0.56
R1750:Or4c101	UTSW	2	88,390,402 (GRCm39)	missense	possibly damaging	0.94
R4626:Or4c101	UTSW	2	88,390,176 (GRCm39)	missense	possibly damaging	0.69
R4645:Or4c101	UTSW	2	88,390,722 (GRCm39)	missense	probably damaging	0.98
R4934:Or4c101	UTSW	2	88,389,930 (GRCm39)	missense	probably benign	0.00
R5643:Or4c101	UTSW	2	88,389,849 (GRCm39)	start codon destroyed	probably null	0.90
R5644:Or4c101	UTSW	2	88,389,849 (GRCm39)	start codon destroyed	probably null	0.90
R6539:Or4c101	UTSW	2	88,389,864 (GRCm39)	missense	probably damaging	1.00
R7079:Or4c101	UTSW	2	88,389,853 (GRCm39)	missense	probably damaging	1.00
R9035:Or4c101	UTSW	2	88,389,863 (GRCm39)	missense	probably damaging	0.99
R9072:Or4c101	UTSW	2	88,390,658 (GRCm39)	missense	probably benign
R9073:Or4c101	UTSW	2	88,390,658 (GRCm39)	missense	probably benign

Posted On

2014-02-04