Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01845:Or1j11'

178165

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or1j11

Ensembl Gene

ENSMUSG00000094464

Gene Name

olfactory receptor family 1 subfamily E member 1

Synonyms

GA_x6K02T2NLDC-33116096-33117025, MOR136-3, Olfr339

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

IGL01845

Quality Score

Status

Chromosome

Chromosomal Location

36311412-36312341 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 36312105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 232 (K232Q)

Ref Sequence

ENSEMBL: ENSMUSP00000149068 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071437] [ENSMUST00000216645]

AlphaFold

Q8VGK8

Predicted Effect

probably benign
Transcript: ENSMUST00000071437
AA Change: K232Q

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000071383
Gene: ENSMUSG00000094464
AA Change: K232Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.9e-55	PFAM
Pfam:7tm_1	41	290	5e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216645
AA Change: K232Q

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	T	C	17: 15,164,380 (GRCm39)	L169P	probably damaging	Het
4933405L10Rik	C	A	8: 106,435,567 (GRCm39)	A75E	probably benign	Het
Abca1	A	G	4: 53,090,297 (GRCm39)	L384P	probably damaging	Het
Acox2	C	A	14: 8,251,617 (GRCm38)	M293I	probably damaging	Het
Acp6	A	G	3: 97,081,123 (GRCm39)	S288G	probably benign	Het
Arhgef12	T	A	9: 42,934,137 (GRCm39)	H127L	possibly damaging	Het
Arid2	T	G	15: 96,254,678 (GRCm39)	F175V	probably damaging	Het
Ccdc15	G	A	9: 37,226,532 (GRCm39)	Q468*	probably null	Het
Ccdc93	T	C	1: 121,390,859 (GRCm39)	I277T	probably damaging	Het
Cdh8	T	C	8: 99,825,586 (GRCm39)		probably benign	Het
Cdipt	T	C	7: 126,578,725 (GRCm39)	S145P	possibly damaging	Het
Cfap206	T	C	4: 34,719,610 (GRCm39)	N268S	possibly damaging	Het
Clcn3	A	T	8: 61,366,129 (GRCm39)	N814K	probably benign	Het
Col6a3	T	C	1: 90,724,293 (GRCm39)	D2019G	probably damaging	Het
Corin	C	A	5: 72,511,282 (GRCm39)	G432C	probably damaging	Het
Crppa	A	G	12: 36,597,918 (GRCm39)	R350G	probably benign	Het
Cyld	C	T	8: 89,432,403 (GRCm39)	Q134*	probably null	Het
Dhh	C	A	15: 98,795,864 (GRCm39)	R97L	probably damaging	Het
Dnah5	T	C	15: 28,449,315 (GRCm39)	V4239A	probably benign	Het
Dock2	T	C	11: 34,599,692 (GRCm39)	I296V	probably benign	Het
Gabbr1	T	C	17: 37,359,306 (GRCm39)		probably benign	Het
Gbp10	T	C	5: 105,367,815 (GRCm39)		probably null	Het
Itgam	T	A	7: 127,711,644 (GRCm39)	L753Q	probably damaging	Het
Kbtbd12	A	G	6: 88,590,922 (GRCm39)	V430A	probably benign	Het
Kdm4a	A	G	4: 118,017,656 (GRCm39)	V470A	possibly damaging	Het
Larp1b	A	T	3: 40,924,960 (GRCm39)	T146S	probably benign	Het
Lrrfip2	T	A	9: 111,028,728 (GRCm39)		probably benign	Het
Mier2	A	T	10: 79,385,418 (GRCm39)	C137S	possibly damaging	Het
Morc3	A	G	16: 93,657,455 (GRCm39)	Y393C	probably damaging	Het
Ms4a7	A	T	19: 11,299,751 (GRCm39)	M217K	possibly damaging	Het
Msl1	A	G	11: 98,696,191 (GRCm39)		probably null	Het
Myh2	A	G	11: 67,083,860 (GRCm39)	E1546G	probably benign	Het
Nlgn2	A	G	11: 69,716,675 (GRCm39)	L622P	possibly damaging	Het
Oga	T	A	19: 45,756,301 (GRCm39)	E447D	probably benign	Het
Or10q3	A	G	19: 11,847,888 (GRCm39)	S231P	probably benign	Het
Or1e33	A	G	11: 73,738,298 (GRCm39)	Y218H	probably damaging	Het
Or56b1b	T	A	7: 108,164,343 (GRCm39)	I220L	possibly damaging	Het
Or5k17	T	C	16: 58,746,929 (GRCm39)	M2V	probably benign	Het
Phf20	C	A	2: 156,118,577 (GRCm39)	S427*	probably null	Het
Pirt	G	A	11: 66,816,794 (GRCm39)	S35N	probably damaging	Het
Prss28	C	A	17: 25,529,011 (GRCm39)	N117K	possibly damaging	Het
Rbbp8nl	A	G	2: 179,925,104 (GRCm39)	C34R	probably damaging	Het
Rtn3	A	T	19: 7,435,241 (GRCm39)	D231E	probably damaging	Het
Sema5a	T	C	15: 32,474,514 (GRCm39)		probably benign	Het
Sh3bp2	T	A	5: 34,713,347 (GRCm39)	L196Q	probably damaging	Het
Slc26a9	G	T	1: 131,685,256 (GRCm39)	D325Y	probably damaging	Het
Slc4a1	A	G	11: 102,244,729 (GRCm39)	V622A	probably benign	Het
Thbd	A	G	2: 148,249,016 (GRCm39)	V284A	probably benign	Het
Tmc5	T	C	7: 118,251,733 (GRCm39)	F609L	possibly damaging	Het
Tnr	T	C	1: 159,695,576 (GRCm39)		probably benign	Het
Ttc17	A	T	2: 94,163,177 (GRCm39)	Y881*	probably null	Het
Ttc41	A	T	10: 86,612,488 (GRCm39)	T1254S	probably benign	Het
Ttn	C	T	2: 76,640,347 (GRCm39)	D13754N	probably damaging	Het
Vmn2r16	T	A	5: 109,511,762 (GRCm39)	F656L	probably damaging	Het
Wdr19	A	G	5: 65,382,709 (GRCm39)	I478V	probably damaging	Het
Zan	T	C	5: 137,379,116 (GRCm39)		probably benign	Het
Zp2	T	A	7: 119,737,414 (GRCm39)	D258V	probably damaging	Het

Other mutations in Or1j11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01296:Or1j11	APN	2	36,311,716 (GRCm39)	missense	probably benign	0.44
IGL01447:Or1j11	APN	2	36,311,466 (GRCm39)	missense	probably damaging	0.97
IGL02728:Or1j11	APN	2	36,312,156 (GRCm39)	missense	possibly damaging	0.95
IGL02941:Or1j11	APN	2	36,312,132 (GRCm39)	missense	probably damaging	1.00
R0128:Or1j11	UTSW	2	36,312,299 (GRCm39)	missense	probably benign	0.16
R0130:Or1j11	UTSW	2	36,312,299 (GRCm39)	missense	probably benign	0.16
R1432:Or1j11	UTSW	2	36,311,655 (GRCm39)	missense	probably damaging	1.00
R1451:Or1j11	UTSW	2	36,311,877 (GRCm39)	missense	probably benign	0.01
R1656:Or1j11	UTSW	2	36,311,658 (GRCm39)	missense	probably benign	0.00
R1854:Or1j11	UTSW	2	36,311,886 (GRCm39)	missense	probably damaging	0.97
R2012:Or1j11	UTSW	2	36,311,931 (GRCm39)	missense	probably benign	0.00
R2093:Or1j11	UTSW	2	36,311,941 (GRCm39)	missense	probably benign	0.00
R2136:Or1j11	UTSW	2	36,311,950 (GRCm39)	missense	probably damaging	1.00
R2282:Or1j11	UTSW	2	36,312,012 (GRCm39)	missense	probably benign	0.00
R4363:Or1j11	UTSW	2	36,311,544 (GRCm39)	missense	probably damaging	1.00
R4466:Or1j11	UTSW	2	36,312,308 (GRCm39)	missense	probably benign	0.00
R4628:Or1j11	UTSW	2	36,311,869 (GRCm39)	nonsense	probably null
R4839:Or1j11	UTSW	2	36,312,012 (GRCm39)	missense	probably benign	0.00
R6023:Or1j11	UTSW	2	36,311,523 (GRCm39)	missense	probably damaging	0.98
R6305:Or1j11	UTSW	2	36,311,634 (GRCm39)	missense	probably damaging	1.00
R6486:Or1j11	UTSW	2	36,311,556 (GRCm39)	missense	probably damaging	1.00
R6851:Or1j11	UTSW	2	36,311,832 (GRCm39)	missense	probably damaging	0.97
R6864:Or1j11	UTSW	2	36,311,832 (GRCm39)	missense	probably damaging	0.97
R7771:Or1j11	UTSW	2	36,312,156 (GRCm39)	missense	possibly damaging	0.95
R8165:Or1j11	UTSW	2	36,311,715 (GRCm39)	missense	probably damaging	1.00
R8307:Or1j11	UTSW	2	36,312,333 (GRCm39)	missense	probably benign	0.03
R8961:Or1j11	UTSW	2	36,312,177 (GRCm39)	missense	probably damaging	1.00
R9152:Or1j11	UTSW	2	36,311,439 (GRCm39)	missense	possibly damaging	0.90
R9179:Or1j11	UTSW	2	36,312,126 (GRCm39)	missense	probably damaging	1.00
R9544:Or1j11	UTSW	2	36,311,784 (GRCm39)	missense	probably damaging	1.00
R9588:Or1j11	UTSW	2	36,311,784 (GRCm39)	missense	probably damaging	1.00
R9690:Or1j11	UTSW	2	36,311,530 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07