Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02478:Or14c40'

295021

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or14c40

Ensembl Gene

ENSMUSG00000063394

Gene Name

olfactory receptor family 14 subfamily C member 40

Synonyms

Olfr293, MOR221-3, GA_x6K02T2NHDJ-9457744-9456734

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

IGL02478

Quality Score

Status

Chromosome

Chromosomal Location

86312872-86313882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86313344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 158 (I158N)

Ref Sequence

ENSEMBL: ENSMUSP00000149959 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081474] [ENSMUST00000214401] [ENSMUST00000215280]

AlphaFold

Q7TS10

Predicted Effect

probably damaging
Transcript: ENSMUST00000081474
AA Change: I158N

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000080193
Gene: ENSMUSG00000063394
AA Change: I158N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	313	2.1e-45	PFAM
Pfam:7tm_1	45	295	1.6e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214401
AA Change: I158N

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215280
AA Change: I158N

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	A	5: 8,856,018 (GRCm39)	A42E	probably damaging	Het
Agmo	T	A	12: 37,451,985 (GRCm39)	F247L	probably damaging	Het
Arap1	C	A	7: 101,049,332 (GRCm39)		probably null	Het
Arid1a	T	C	4: 133,408,585 (GRCm39)	D1974G	unknown	Het
Asxl3	C	T	18: 22,656,070 (GRCm39)	A1360V	possibly damaging	Het
Celsr1	T	A	15: 85,825,337 (GRCm39)	T1599S	possibly damaging	Het
Chrdl2	T	C	7: 99,670,190 (GRCm39)		probably null	Het
Csmd3	T	C	15: 47,701,794 (GRCm39)		probably benign	Het
Dis3l	C	T	9: 64,222,055 (GRCm39)	E452K	probably benign	Het
Dnajc2	A	T	5: 21,981,788 (GRCm39)	H45Q	probably damaging	Het
Eps8	G	A	6: 137,499,840 (GRCm39)	P213L	probably benign	Het
Erbb3	T	A	10: 128,407,227 (GRCm39)	R978*	probably null	Het
Exoc2	A	T	13: 31,111,403 (GRCm39)	C142S	probably benign	Het
Fam184b	T	C	5: 45,695,039 (GRCm39)	E735G	probably damaging	Het
Fancm	T	C	12: 65,123,864 (GRCm39)	V174A	probably damaging	Het
Fat4	T	C	3: 38,942,364 (GRCm39)	L419P	probably damaging	Het
Fsip2	G	T	2: 82,814,736 (GRCm39)	V3490L	probably benign	Het
Ftcd	A	T	10: 76,417,255 (GRCm39)	R255*	probably null	Het
Galc	T	C	12: 98,179,391 (GRCm39)	N506S	possibly damaging	Het
Gm20441	G	T	10: 75,608,644 (GRCm39)	A26E	probably damaging	Het
Gm21969	T	G	4: 139,367,999 (GRCm39)		probably null	Het
Ifitm3	T	A	7: 140,589,787 (GRCm39)	M89L	possibly damaging	Het
Ift25	T	A	4: 107,132,449 (GRCm39)	S79T	probably benign	Het
Inmt	T	C	6: 55,150,355 (GRCm39)	E94G	probably damaging	Het
Insrr	G	A	3: 87,716,719 (GRCm39)	G649D	probably benign	Het
Ivd	T	C	2: 118,692,572 (GRCm39)	L24P	probably benign	Het
Kcnc1	A	G	7: 46,084,593 (GRCm39)	N506D	probably benign	Het
Krt39	T	A	11: 99,411,723 (GRCm39)	D121V	probably benign	Het
Lcp1	A	G	14: 75,461,536 (GRCm39)	I510V	probably benign	Het
Mkx	C	T	18: 7,002,418 (GRCm39)	V43M	probably damaging	Het
Mmp2	A	G	8: 93,579,235 (GRCm39)	N108S	possibly damaging	Het
Mob1b	T	C	5: 88,903,947 (GRCm39)		probably benign	Het
Morc3	A	G	16: 93,661,844 (GRCm39)		probably benign	Het
Myh13	T	G	11: 67,260,204 (GRCm39)	S1881A	probably benign	Het
Nalcn	T	C	14: 123,558,717 (GRCm39)	E843G	probably benign	Het
Ngef	A	G	1: 87,408,301 (GRCm39)		probably benign	Het
Osm	A	G	11: 4,189,507 (GRCm39)	Y97C	probably damaging	Het
Pclo	T	A	5: 14,816,792 (GRCm39)	L4556Q	unknown	Het
Pcyox1l	T	C	18: 61,830,780 (GRCm39)	D364G	probably benign	Het
Plekha6	T	A	1: 133,211,031 (GRCm39)	V467E	probably benign	Het
Qrsl1	A	T	10: 43,758,158 (GRCm39)	S312T	probably damaging	Het
Ripk1	T	A	13: 34,194,572 (GRCm39)	L70Q	probably damaging	Het
Rnaseh1	A	T	12: 28,705,662 (GRCm39)	Y162F	probably damaging	Het
Ror2	T	A	13: 53,275,703 (GRCm39)	T195S	probably damaging	Het
Sh3bp2	T	C	5: 34,709,006 (GRCm39)	L33P	probably damaging	Het
Skil	T	A	3: 31,151,968 (GRCm39)	C163*	probably null	Het
Slc25a37	A	T	14: 69,486,883 (GRCm39)	N133K	probably benign	Het
Slitrk3	A	C	3: 72,958,046 (GRCm39)	V242G	probably damaging	Het
Sra1	A	G	18: 36,801,845 (GRCm39)	S82P	probably benign	Het
Synj2	A	G	17: 6,088,199 (GRCm39)	N1417D	probably benign	Het
Tas2r122	A	G	6: 132,688,578 (GRCm39)	V105A	possibly damaging	Het
Tasor2	T	C	13: 3,624,661 (GRCm39)	E1763G	probably benign	Het
Ttc21b	T	C	2: 66,018,624 (GRCm39)	N1261S	probably benign	Het
Vmn2r69	A	G	7: 85,055,889 (GRCm39)	S750P	probably damaging	Het
Wdr95	A	G	5: 149,519,786 (GRCm39)	T568A	probably benign	Het
Zfp319	T	A	8: 96,055,721 (GRCm39)	I161F	possibly damaging	Het

Other mutations in Or14c40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02659:Or14c40	APN	7	86,313,289 (GRCm39)	missense	probably benign	0.06
IGL02730:Or14c40	APN	7	86,313,275 (GRCm39)	missense	probably damaging	0.98
IGL02959:Or14c40	APN	7	86,313,737 (GRCm39)	missense	probably damaging	0.98
R0045:Or14c40	UTSW	7	86,313,548 (GRCm39)	missense	possibly damaging	0.90
R0094:Or14c40	UTSW	7	86,313,502 (GRCm39)	missense	probably benign
R0094:Or14c40	UTSW	7	86,313,502 (GRCm39)	missense	probably benign
R0152:Or14c40	UTSW	7	86,313,719 (GRCm39)	missense	probably damaging	1.00
R0669:Or14c40	UTSW	7	86,313,544 (GRCm39)	missense	possibly damaging	0.79
R0942:Or14c40	UTSW	7	86,313,314 (GRCm39)	missense	probably damaging	0.98
R1467:Or14c40	UTSW	7	86,313,185 (GRCm39)	missense	possibly damaging	0.90
R1467:Or14c40	UTSW	7	86,313,185 (GRCm39)	missense	possibly damaging	0.90
R1656:Or14c40	UTSW	7	86,313,331 (GRCm39)	missense	probably benign	0.04
R2010:Or14c40	UTSW	7	86,313,811 (GRCm39)	missense	probably benign
R2056:Or14c40	UTSW	7	86,313,591 (GRCm39)	missense	probably damaging	1.00
R2059:Or14c40	UTSW	7	86,313,591 (GRCm39)	missense	probably damaging	1.00
R2105:Or14c40	UTSW	7	86,313,591 (GRCm39)	missense	probably damaging	1.00
R4166:Or14c40	UTSW	7	86,313,602 (GRCm39)	missense	probably damaging	1.00
R4303:Or14c40	UTSW	7	86,313,163 (GRCm39)	missense	probably benign	0.16
R4531:Or14c40	UTSW	7	86,313,479 (GRCm39)	missense	probably benign	0.02
R4808:Or14c40	UTSW	7	86,313,146 (GRCm39)	missense	probably benign	0.00
R5748:Or14c40	UTSW	7	86,313,293 (GRCm39)	missense	possibly damaging	0.61
R5937:Or14c40	UTSW	7	86,313,684 (GRCm39)	missense	probably benign	0.00
R6178:Or14c40	UTSW	7	86,313,819 (GRCm39)	missense	probably benign	0.45
R6766:Or14c40	UTSW	7	86,313,293 (GRCm39)	missense	probably damaging	0.98
R7315:Or14c40	UTSW	7	86,313,445 (GRCm39)	missense	probably damaging	0.99
R7585:Or14c40	UTSW	7	86,313,880 (GRCm39)	makesense	probably null
R9201:Or14c40	UTSW	7	86,313,749 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16