Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03161:Or4k45'

411408

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or4k45

Ensembl Gene

ENSMUSG00000108919

Gene Name

olfactory receptor family 4 subfamily K member 45

Synonyms

MOR248-10, GA_x6K02T2Q125-72616944-72616006, Olfr1295

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

IGL03161

Quality Score

Status

Chromosome

Chromosomal Location

111394849-111395787 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111395676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 38 (I38V)

Ref Sequence

ENSEMBL: ENSMUSP00000151314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000207283] [ENSMUST00000207786] [ENSMUST00000217772]

AlphaFold

Q8VF48

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207283
AA Change: I38V

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207786
AA Change: I38V

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209152
AA Change: I38V

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217772
AA Change: I38V

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579G24Rik	T	C	3: 79,536,493 (GRCm39)		probably benign	Het
Abtb2	G	T	2: 103,397,799 (GRCm39)	R243L	probably benign	Het
Adamts12	A	G	15: 11,292,168 (GRCm39)	E871G	possibly damaging	Het
Ascc3	A	T	10: 50,494,168 (GRCm39)	N201I	probably damaging	Het
Aste1	A	T	9: 105,273,871 (GRCm39)	H37L	probably damaging	Het
Atp1a2	T	A	1: 172,106,429 (GRCm39)		probably benign	Het
Cand2	C	A	6: 115,769,698 (GRCm39)	T836K	probably benign	Het
Dnah7c	G	A	1: 46,506,456 (GRCm39)	A178T	probably benign	Het
Dnm2	A	G	9: 21,397,020 (GRCm39)		probably benign	Het
Dock3	T	C	9: 106,900,987 (GRCm39)	D326G	probably damaging	Het
Fignl1	A	C	11: 11,752,680 (GRCm39)	M125R	probably benign	Het
Gabarapl2	T	A	8: 112,669,168 (GRCm39)	V42D	probably benign	Het
Hivep2	T	C	10: 14,019,100 (GRCm39)	V1957A	probably damaging	Het
Hps1	T	C	19: 42,755,710 (GRCm39)	E172G	probably damaging	Het
Il16	T	C	7: 83,371,707 (GRCm39)	D33G	probably damaging	Het
Lamb1	A	G	12: 31,376,255 (GRCm39)	N1542D	probably benign	Het
Mllt6	T	C	11: 97,557,977 (GRCm39)	Y179H	probably benign	Het
Muc4	T	C	16: 32,570,766 (GRCm39)	S609P	possibly damaging	Het
Nacad	G	A	11: 6,550,378 (GRCm39)	Q938*	probably null	Het
Odad3	A	G	9: 21,913,611 (GRCm39)	S54P	probably benign	Het
Or4p22	G	A	2: 88,317,792 (GRCm39)	A239T	probably benign	Het
Pik3c3	C	T	18: 30,426,760 (GRCm39)	T292I	probably benign	Het
Prss3b	A	T	6: 41,011,240 (GRCm39)	H47Q	probably damaging	Het
Slit3	T	C	11: 35,591,241 (GRCm39)	V1351A	probably benign	Het
Spg7	T	C	8: 123,814,070 (GRCm39)	M443T	probably damaging	Het
Spmip9	T	C	6: 70,890,519 (GRCm39)	E91G	probably benign	Het
Tcof1	A	G	18: 60,966,560 (GRCm39)	S344P	possibly damaging	Het
Tm4sf5	T	A	11: 70,401,098 (GRCm39)	S105T	probably benign	Het
Tmem119	A	G	5: 113,932,961 (GRCm39)	V280A	possibly damaging	Het
Trbv20	A	T	6: 41,165,757 (GRCm39)	I61L	probably benign	Het
Trip12	T	C	1: 84,738,853 (GRCm39)		probably benign	Het
Vmn1r32	T	A	6: 66,530,204 (GRCm39)	M191L	possibly damaging	Het
Vta1	A	T	10: 14,543,716 (GRCm39)	H219Q	possibly damaging	Het

Other mutations in Or4k45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02110:Or4k45	APN	2	111,395,252 (GRCm39)	missense	probably damaging	1.00
IGL02426:Or4k45	APN	2	111,394,883 (GRCm39)	missense	probably benign
IGL02638:Or4k45	APN	2	111,395,249 (GRCm39)	missense	probably damaging	1.00
IGL02743:Or4k45	APN	2	111,394,888 (GRCm39)	missense	possibly damaging	0.95
G1patch:Or4k45	UTSW	2	111,395,252 (GRCm39)	missense	probably damaging	1.00
PIT4377001:Or4k45	UTSW	2	111,395,556 (GRCm39)	missense	probably damaging	0.98
R0448:Or4k45	UTSW	2	111,395,559 (GRCm39)	missense	probably benign	0.42
R1634:Or4k45	UTSW	2	111,395,691 (GRCm39)	missense	probably benign	0.00
R2065:Or4k45	UTSW	2	111,395,057 (GRCm39)	missense	probably damaging	0.99
R5308:Or4k45	UTSW	2	111,394,899 (GRCm39)	missense	probably damaging	0.99
R5534:Or4k45	UTSW	2	111,395,349 (GRCm39)	missense	probably benign	0.00
R5990:Or4k45	UTSW	2	111,395,019 (GRCm39)	missense	probably damaging	0.99
R6725:Or4k45	UTSW	2	111,395,252 (GRCm39)	missense	probably damaging	1.00
R7492:Or4k45	UTSW	2	111,395,166 (GRCm39)	missense	probably benign	0.00
R8116:Or4k45	UTSW	2	111,395,783 (GRCm39)	missense	probably benign	0.01
R8400:Or4k45	UTSW	2	111,395,747 (GRCm39)	missense	probably damaging	1.00
R8493:Or4k45	UTSW	2	111,395,324 (GRCm39)	missense	probably damaging	1.00
R9636:Or4k45	UTSW	2	111,395,786 (GRCm39)	start codon destroyed	probably null	1.00
R9736:Or4k45	UTSW	2	111,395,626 (GRCm39)	missense	probably benign	0.03

Posted On

2016-08-02