Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01391:Or14a258'

79207

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or14a258

Ensembl Gene

ENSMUSG00000062426

Gene Name

olfactory receptor family 14 subfamily A member 258

Synonyms

GA_x6K02T2NHDJ-9721756-9722757, MOR219-3P, Olfr304

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

IGL01391

Quality Score

Status

Chromosome

Chromosomal Location

86034865-86035866 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86035208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 220 (I220N)

Ref Sequence

ENSEMBL: ENSMUSP00000076449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077210]

AlphaFold

Q7TS03

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077210
AA Change: I220N

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000076449
Gene: ENSMUSG00000062426
AA Change: I220N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	8.9e-38	PFAM
Pfam:7tm_1	39	288	1.1e-21	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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3m2	T	A	8: 23,289,663 (GRCm39)	I147F	probably benign	Het
Areg	T	A	5: 91,288,954 (GRCm39)	S87T	probably damaging	Het
Arid1b	T	A	17: 5,369,133 (GRCm39)		probably benign	Het
Arl6ip6	A	G	2: 53,082,156 (GRCm39)	R8G	probably benign	Het
Brms1	A	G	19: 5,096,723 (GRCm39)	E135G	possibly damaging	Het
Ccser1	A	G	6: 61,615,505 (GRCm39)		probably benign	Het
Dock3	A	T	9: 106,784,433 (GRCm39)	M258K	possibly damaging	Het
Epb41l4a	T	G	18: 33,934,678 (GRCm39)	D562A	possibly damaging	Het
Etaa1	G	A	11: 17,896,005 (GRCm39)	T704I	probably damaging	Het
Fer1l4	T	A	2: 155,878,376 (GRCm39)	H972L	probably damaging	Het
Foxn1	A	G	11: 78,252,320 (GRCm39)	M356T	probably damaging	Het
Gfral	C	A	9: 76,072,107 (GRCm39)	G388*	probably null	Het
Gm12258	A	G	11: 58,739,520 (GRCm39)	T3A	probably benign	Het
Hoxa5	T	C	6: 52,181,311 (GRCm39)	N7S	probably damaging	Het
Itgb4	T	C	11: 115,881,746 (GRCm39)	L765P	probably damaging	Het
Jchain	C	T	5: 88,669,383 (GRCm39)	C90Y	probably damaging	Het
Klhl40	A	G	9: 121,607,983 (GRCm39)	Y381C	probably damaging	Het
Lhx6	A	T	2: 35,993,477 (GRCm39)	C74S	probably benign	Het
Magel2	A	G	7: 62,030,632 (GRCm39)	S1179G	unknown	Het
Mapre3	T	C	5: 31,022,241 (GRCm39)	I236T	probably damaging	Het
Mcf2l	A	T	8: 13,064,010 (GRCm39)		probably null	Het
Med13	A	T	11: 86,219,323 (GRCm39)	H374Q	probably benign	Het
Meioc	A	G	11: 102,565,113 (GRCm39)	Y187C	probably benign	Het
Myh1	G	A	11: 67,108,689 (GRCm39)	M1368I	probably benign	Het
Or8b54	A	G	9: 38,686,826 (GRCm39)	I92V	probably damaging	Het
Phrf1	T	C	7: 140,842,394 (GRCm39)	Y1501H	probably damaging	Het
Pigb	T	C	9: 72,929,573 (GRCm39)	T337A	probably damaging	Het
Pls1	T	C	9: 95,655,751 (GRCm39)	K334E	probably benign	Het
Pramel51	C	T	12: 88,145,225 (GRCm39)	V34I	possibly damaging	Het
Rab3b	T	C	4: 108,797,999 (GRCm39)	C226R	probably damaging	Het
Ryr2	A	T	13: 11,571,571 (GRCm39)	I4889N	possibly damaging	Het
Serpinb1a	G	A	13: 33,029,398 (GRCm39)	S210L	probably benign	Het
Slc52a3	A	G	2: 151,849,522 (GRCm39)	I390V	probably benign	Het
Slc6a7	C	A	18: 61,136,382 (GRCm39)	A340S	probably damaging	Het
Tcaf3	T	C	6: 42,570,615 (GRCm39)	Y379C	probably damaging	Het
Tex261	A	G	6: 83,748,222 (GRCm39)	V180A	probably benign	Het
Tnnt1	C	T	7: 4,517,211 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,798,847 (GRCm39)	T476A	possibly damaging	Het
Vcan	A	G	13: 89,852,288 (GRCm39)	S891P	probably benign	Het
Vmn2r16	T	A	5: 109,511,627 (GRCm39)	D611E	possibly damaging	Het
Vmn2r68	T	C	7: 84,886,819 (GRCm39)	T32A	probably benign	Het
Vwde	T	G	6: 13,190,526 (GRCm39)	S522R	probably benign	Het
Wdr3	G	A	3: 100,054,105 (GRCm39)		probably benign	Het
Wfs1	G	T	5: 37,128,907 (GRCm39)	Q288K	probably benign	Het
Zfp142	A	G	1: 74,618,699 (GRCm39)	V120A	probably damaging	Het
Zfp672	A	G	11: 58,208,192 (GRCm39)	F43S	probably damaging	Het
Znhit3	A	T	11: 84,802,283 (GRCm39)		probably benign	Het

Other mutations in Or14a258

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02152:Or14a258	APN	7	86,035,251 (GRCm39)	missense	probably benign	0.00
IGL02540:Or14a258	APN	7	86,035,386 (GRCm39)	missense	possibly damaging	0.86
IGL03108:Or14a258	APN	7	86,034,929 (GRCm39)	missense	possibly damaging	0.95
IGL03374:Or14a258	APN	7	86,035,574 (GRCm39)	missense	probably damaging	1.00
R0040:Or14a258	UTSW	7	86,035,715 (GRCm39)	missense	probably benign	0.01
R0130:Or14a258	UTSW	7	86,035,514 (GRCm39)	missense	probably damaging	1.00
R0194:Or14a258	UTSW	7	86,035,582 (GRCm39)	nonsense	probably null
R0267:Or14a258	UTSW	7	86,035,475 (GRCm39)	missense	possibly damaging	0.64
R1026:Or14a258	UTSW	7	86,035,467 (GRCm39)	missense	probably damaging	0.98
R1865:Or14a258	UTSW	7	86,035,769 (GRCm39)	missense	probably damaging	1.00
R2090:Or14a258	UTSW	7	86,035,289 (GRCm39)	missense	probably benign	0.01
R3607:Or14a258	UTSW	7	86,034,903 (GRCm39)	missense	probably benign
R3861:Or14a258	UTSW	7	86,035,331 (GRCm39)	missense	possibly damaging	0.60
R3909:Or14a258	UTSW	7	86,035,182 (GRCm39)	missense	probably benign	0.05
R4113:Or14a258	UTSW	7	86,035,733 (GRCm39)	missense	possibly damaging	0.83
R5268:Or14a258	UTSW	7	86,034,867 (GRCm39)	makesense	probably null
R5649:Or14a258	UTSW	7	86,035,521 (GRCm39)	missense	probably damaging	1.00
R6343:Or14a258	UTSW	7	86,035,059 (GRCm39)	nonsense	probably null
R7716:Or14a258	UTSW	7	86,035,262 (GRCm39)	missense	probably benign	0.22
R8118:Or14a258	UTSW	7	86,034,976 (GRCm39)	nonsense	probably null
R9047:Or14a258	UTSW	7	86,035,248 (GRCm39)	missense	probably benign	0.05
R9503:Or14a258	UTSW	7	86,035,228 (GRCm39)	missense	probably benign	0.00
R9528:Or14a258	UTSW	7	86,035,059 (GRCm39)	nonsense	probably null
X0054:Or14a258	UTSW	7	86,034,938 (GRCm39)	missense	probably benign	0.00
X0063:Or14a258	UTSW	7	86,035,700 (GRCm39)	missense	probably damaging	1.00
Z1186:Or14a258	UTSW	7	86,035,487 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-05