Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03108:Or14a258'

419056

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 #

IGL03108

Quality Score

Status

Chromosome

Chromosomal Location

86034865-86035866 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86034929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 313 (Y313C)

Ref Sequence

ENSEMBL: ENSMUSP00000076449 (fasta)

Gene Model

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

AlphaFold

Q7TS03

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077210
AA Change: Y313C

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000076449
Gene: ENSMUSG00000062426
AA Change: Y313C

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	A	13: 81,707,648 (GRCm39)	V1253F	probably damaging	Het
Apbb2	A	G	5: 66,557,574 (GRCm39)	W296R	probably damaging	Het
Armh3	G	A	19: 45,808,792 (GRCm39)	T633I	probably damaging	Het
Btbd3	T	C	2: 138,126,043 (GRCm39)	V409A	possibly damaging	Het
C130050O18Rik	A	T	5: 139,400,820 (GRCm39)	D291V	probably damaging	Het
Catsper3	A	G	13: 55,955,848 (GRCm39)	N318D	probably benign	Het
Chd1	T	A	17: 15,945,543 (GRCm39)	D22E	possibly damaging	Het
Chrnb2	G	A	3: 89,670,681 (GRCm39)		probably benign	Het
Col24a1	G	A	3: 145,029,162 (GRCm39)	G550D	probably damaging	Het
Cryl1	T	C	14: 57,550,534 (GRCm39)	D110G	probably damaging	Het
Deaf1	A	G	7: 140,902,874 (GRCm39)	I150T	probably damaging	Het
Eif3a	A	T	19: 60,770,747 (GRCm39)	D33E	possibly damaging	Het
Fabp12	C	A	3: 10,315,114 (GRCm39)	G78C	probably benign	Het
Fat1	A	G	8: 45,476,651 (GRCm39)	D1899G	probably damaging	Het
Galnt13	G	A	2: 54,744,660 (GRCm39)	V120I	probably benign	Het
Ganab	G	A	19: 8,889,840 (GRCm39)	A635T	probably damaging	Het
Gm17509	G	A	13: 117,357,380 (GRCm39)		probably benign	Het
Gstm3	A	T	3: 107,875,080 (GRCm39)		probably null	Het
Hfm1	T	A	5: 107,043,800 (GRCm39)		probably benign	Het
Hoxd13	A	C	2: 74,500,440 (GRCm39)	D327A	probably damaging	Het
Ints4	G	T	7: 97,140,137 (GRCm39)		probably null	Het
Kcna10	A	T	3: 107,102,259 (GRCm39)	T297S	probably benign	Het
Ldb2	G	A	5: 44,699,057 (GRCm39)	T127I	probably damaging	Het
Mapk7	T	C	11: 61,382,498 (GRCm39)	D68G	probably damaging	Het
Msh3	A	T	13: 92,357,596 (GRCm39)		probably benign	Het
Muc6	A	G	7: 141,217,402 (GRCm39)	S2359P	possibly damaging	Het
Mup6	A	T	4: 60,005,990 (GRCm39)	I161F	possibly damaging	Het
Nup160	G	A	2: 90,534,169 (GRCm39)	V665I	probably benign	Het
Or13a22	A	G	7: 140,073,034 (GRCm39)	N161S	possibly damaging	Het
Or4e5	T	A	14: 52,727,533 (GRCm39)	D296V	probably damaging	Het
Otog	G	A	7: 45,900,762 (GRCm39)	V352I	probably damaging	Het
Oxct1	T	A	15: 4,064,764 (GRCm39)	V34D	probably benign	Het
Pcdhb21	T	A	18: 37,648,944 (GRCm39)		probably null	Het
Pcdhb8	T	G	18: 37,490,299 (GRCm39)	V659G	probably damaging	Het
Plxnb2	T	C	15: 89,042,234 (GRCm39)	N1590S	probably benign	Het
Rnf168	G	T	16: 32,097,099 (GRCm39)	R56L	possibly damaging	Het
Scn8a	C	T	15: 100,872,496 (GRCm39)	P362S	probably benign	Het
Slc1a3	T	A	15: 8,668,562 (GRCm39)	I468F	probably damaging	Het
Slc39a14	G	A	14: 70,556,368 (GRCm39)	R3W	probably damaging	Het
Slc7a6	T	A	8: 106,921,149 (GRCm39)	N373K	probably damaging	Het
Snrnp200	T	C	2: 127,080,087 (GRCm39)	S1955P	possibly damaging	Het
Stat5a	T	A	11: 100,753,965 (GRCm39)	Y98*	probably null	Het
Thsd7b	G	T	1: 130,138,013 (GRCm39)	G1564C	probably damaging	Het
Zc3h13	T	C	14: 75,569,206 (GRCm39)	V1351A	possibly damaging	Het

Other mutations in Or14a258

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01391:Or14a258	APN	7	86,035,208 (GRCm39)	missense	possibly damaging	0.95
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
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

2016-08-02