Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03286:Or6p1'

415715

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or6p1

Ensembl Gene

ENSMUSG00000051509

Gene Name

olfactory receptor family 6 subfamily P member 1

Synonyms

MOR103-10, Olfr414, GA_x6K02T2P20D-20749615-20748662

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

IGL03286

Quality Score

Status

Chromosome

Chromosomal Location

174257996-174258950 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 174258743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 250 (I250L)

Ref Sequence

ENSEMBL: ENSMUSP00000142051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053178] [ENSMUST00000192358]

AlphaFold

E9Q5P8

Predicted Effect

probably benign
Transcript: ENSMUST00000053178
AA Change: I250L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000052426
Gene: ENSMUSG00000051509
AA Change: I250L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.8e-53	PFAM
Pfam:7tm_1	41	290	8.3e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000192358
AA Change: I250L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000142051
Gene: ENSMUSG00000051509
AA Change: I250L

Domain	Start	End	E-Value	Type
Pfam:7tm_1	41	290	2.9e-29	PFAM
Pfam:7tm_4	139	283	1.1e-45	PFAM

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	G	A	1: 58,088,543 (GRCm39)	G110S	probably benign	Het
Arhgap32	T	C	9: 32,170,816 (GRCm39)	S1548P	probably benign	Het
Cacna1s	A	G	1: 136,005,397 (GRCm39)	D147G	probably benign	Het
Calcoco2	A	G	11: 95,994,098 (GRCm39)	V116A	possibly damaging	Het
Chd5	A	T	4: 152,469,952 (GRCm39)	M1842L	probably benign	Het
Comt	T	C	16: 18,230,490 (GRCm39)	D73G	probably damaging	Het
Ctnna1	A	G	18: 35,308,206 (GRCm39)	I175M	probably benign	Het
Dnah6	A	T	6: 73,060,068 (GRCm39)	Y2839N	probably damaging	Het
Dph7	T	A	2: 24,856,628 (GRCm39)	H193Q	probably damaging	Het
Eif2b5	A	G	16: 20,321,012 (GRCm39)	D258G	probably damaging	Het
Eml5	T	C	12: 98,826,762 (GRCm39)	D630G	probably damaging	Het
Ext2	C	T	2: 93,537,617 (GRCm39)	V590M	probably damaging	Het
Fchsd2	T	C	7: 100,908,982 (GRCm39)		probably null	Het
Gm13272	A	G	4: 88,698,586 (GRCm39)	Q167R	probably benign	Het
Gm21834	A	G	17: 58,048,922 (GRCm39)	V98A	possibly damaging	Het
Grid1	T	A	14: 35,242,642 (GRCm39)		probably benign	Het
H2-DMa	T	A	17: 34,356,083 (GRCm39)		probably null	Het
Ighv5-17	T	G	12: 113,822,797 (GRCm39)	E108A	possibly damaging	Het
Invs	A	G	4: 48,382,261 (GRCm39)	T144A	probably benign	Het
Ipo9	A	G	1: 135,334,816 (GRCm39)		probably benign	Het
Itga4	A	T	2: 79,119,706 (GRCm39)	Y504F	probably damaging	Het
Krt5	A	G	15: 101,615,983 (GRCm39)	F544S	unknown	Het
Larp4	A	G	15: 99,883,967 (GRCm39)	Y67C	probably damaging	Het
Msh2	T	C	17: 87,990,095 (GRCm39)	M261T	possibly damaging	Het
Nav1	A	T	1: 135,382,274 (GRCm39)	C1367S	probably benign	Het
Nox4	T	A	7: 87,019,349 (GRCm39)		probably benign	Het
Noxa1	A	G	2: 24,975,732 (GRCm39)		probably null	Het
Or5b98	A	C	19: 12,931,532 (GRCm39)	Y193S	probably benign	Het
Pde4d	T	A	13: 110,091,040 (GRCm39)		probably benign	Het
Pdlim2	C	T	14: 70,411,925 (GRCm39)	G36S	possibly damaging	Het
Plekhm2	A	G	4: 141,361,658 (GRCm39)	S262P	possibly damaging	Het
Pnpla6	C	A	8: 3,581,473 (GRCm39)	T582K	probably damaging	Het
Rap1b	A	T	10: 117,654,480 (GRCm39)	L120*	probably null	Het
Rft1	C	T	14: 30,383,323 (GRCm39)	T121I	probably benign	Het
Scn1a	A	G	2: 66,107,920 (GRCm39)	I1613T	probably damaging	Het
Slc47a2	T	G	11: 61,233,293 (GRCm39)	E79A	possibly damaging	Het
Slc9a4	A	G	1: 40,619,928 (GRCm39)	I85V	probably null	Het
Slfn8	A	T	11: 82,904,294 (GRCm39)	F365L	probably damaging	Het
Smcr8	T	A	11: 60,668,853 (GRCm39)		probably benign	Het
Sntb1	T	C	15: 55,655,442 (GRCm39)	D258G	possibly damaging	Het
Sorbs1	A	G	19: 40,332,858 (GRCm39)	I520T	probably damaging	Het
Sptbn2	T	C	19: 4,797,860 (GRCm39)	S1896P	probably damaging	Het
Sptlc3	G	A	2: 139,431,579 (GRCm39)	G367D	probably damaging	Het
Stab1	C	T	14: 30,881,283 (GRCm39)		probably benign	Het
Tars2	T	C	3: 95,662,067 (GRCm39)		probably benign	Het
Tchhl1	C	T	3: 93,378,430 (GRCm39)	A378V	probably benign	Het
Tet3	A	T	6: 83,352,760 (GRCm39)	F1012Y	probably damaging	Het
Tuba8	A	G	6: 121,199,913 (GRCm39)	D199G	possibly damaging	Het
Vmn2r110	T	A	17: 20,804,468 (GRCm39)	T151S	possibly damaging	Het
Xirp2	T	C	2: 67,346,654 (GRCm39)	I2965T	probably damaging	Het
Zfp688	T	A	7: 127,018,703 (GRCm39)	M141L	probably benign	Het

Other mutations in Or6p1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01018:Or6p1	APN	1	174,258,908 (GRCm39)	missense	probably benign	0.00
IGL01560:Or6p1	APN	1	174,258,467 (GRCm39)	missense	probably benign	0.17
IGL01795:Or6p1	APN	1	174,258,215 (GRCm39)	missense	possibly damaging	0.83
PIT4131001:Or6p1	UTSW	1	174,258,390 (GRCm39)	missense	probably damaging	1.00
R0219:Or6p1	UTSW	1	174,258,032 (GRCm39)	missense	probably benign	0.00
R0492:Or6p1	UTSW	1	174,258,129 (GRCm39)	missense	possibly damaging	0.95
R1052:Or6p1	UTSW	1	174,258,701 (GRCm39)	nonsense	probably null
R1054:Or6p1	UTSW	1	174,258,419 (GRCm39)	missense	probably benign	0.36
R1473:Or6p1	UTSW	1	174,258,209 (GRCm39)	missense	probably damaging	0.97
R1675:Or6p1	UTSW	1	174,258,663 (GRCm39)	missense	probably benign
R1774:Or6p1	UTSW	1	174,258,905 (GRCm39)	missense	probably benign	0.00
R1861:Or6p1	UTSW	1	174,258,657 (GRCm39)	missense	probably damaging	1.00
R1959:Or6p1	UTSW	1	174,258,471 (GRCm39)	missense	probably damaging	1.00
R1978:Or6p1	UTSW	1	174,258,657 (GRCm39)	missense	probably damaging	1.00
R4043:Or6p1	UTSW	1	174,258,657 (GRCm39)	missense	probably damaging	1.00
R5020:Or6p1	UTSW	1	174,258,237 (GRCm39)	missense	probably damaging	0.98
R5354:Or6p1	UTSW	1	174,258,252 (GRCm39)	missense	probably damaging	0.98
R5873:Or6p1	UTSW	1	174,258,348 (GRCm39)	missense	possibly damaging	0.84
R6053:Or6p1	UTSW	1	174,258,135 (GRCm39)	nonsense	probably null
R8300:Or6p1	UTSW	1	174,258,100 (GRCm39)	nonsense	probably null
R9105:Or6p1	UTSW	1	174,258,861 (GRCm39)	missense	probably damaging	1.00
R9716:Or6p1	UTSW	1	174,258,641 (GRCm39)	missense	probably benign	0.21
Z1176:Or6p1	UTSW	1	174,258,157 (GRCm39)	missense	probably benign	0.39

Posted On

2016-08-02