Mutagenetix > Incidental Mutation

Incidental Mutation 'R3861:Or14a258'

276345

Institutional Source

Beutler Lab

Gene Symbol

Or14a258

Ensembl Gene

ENSMUSG00000062426

Gene Name

olfactory receptor family 14 subfamily A member 258

Synonyms

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

MMRRC Submission

040788-MU

Accession Numbers

Essential gene?

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

Stock #

R3861 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86034865-86035866 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86035331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 179 (V179A)

Ref Sequence

ENSEMBL: ENSMUSP00000076449 (fasta)

Gene Model

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

AlphaFold

Q7TS03

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077210
AA Change: V179A

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000076449
Gene: ENSMUSG00000062426
AA Change: V179A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	8.9e-38	PFAM
Pfam:7tm_1	39	288	1.1e-21	PFAM

Meta Mutation Damage Score

0.1046

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (55/55)

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
5730507C01Rik	G	A	12: 18,583,411 (GRCm39)	S157N	probably benign	Het
A830018L16Rik	T	C	1: 11,658,778 (GRCm39)		probably benign	Het
Akip1	C	T	7: 109,306,613 (GRCm39)		probably benign	Het
Anxa5	T	C	3: 36,504,807 (GRCm39)	T252A	probably benign	Het
Arhgef10l	A	G	4: 140,242,798 (GRCm39)	F1072L	possibly damaging	Het
Armc1	C	T	3: 19,189,196 (GRCm39)	R186Q	probably damaging	Het
Atxn2l	A	T	7: 126,101,123 (GRCm39)		probably null	Het
Cadps2	A	G	6: 23,355,860 (GRCm39)	I849T	probably damaging	Het
Ccdc28a	T	A	10: 18,100,743 (GRCm39)	Q28L	probably damaging	Het
Cdh4	T	A	2: 179,515,890 (GRCm39)	V356D	probably damaging	Het
Chd8	T	A	14: 52,474,578 (GRCm39)	Q151L	probably benign	Het
Chgb	T	A	2: 132,635,064 (GRCm39)	H335Q	probably damaging	Het
Col19a1	G	A	1: 24,365,098 (GRCm39)	P506S	probably damaging	Het
Col5a2	T	C	1: 45,419,397 (GRCm39)	T1228A	probably damaging	Het
Cpxm2	A	G	7: 131,656,648 (GRCm39)	V538A	probably benign	Het
Cramp1	A	T	17: 25,216,588 (GRCm39)		probably benign	Het
Cttnbp2	T	C	6: 18,423,832 (GRCm39)	R831G	probably benign	Het
Cyp4f17	A	G	17: 32,747,078 (GRCm39)	D436G	probably damaging	Het
Dcaf6	A	T	1: 165,256,838 (GRCm39)	N48K	probably damaging	Het
Ddx50	C	A	10: 62,478,725 (GRCm39)	V154L	possibly damaging	Het
Dnah9	T	C	11: 65,943,820 (GRCm39)		probably benign	Het
Dnm3	T	A	1: 162,138,974 (GRCm39)	I395L	possibly damaging	Het
Elp2	C	T	18: 24,739,977 (GRCm39)	R68C	probably benign	Het
Frg1	A	T	8: 41,860,820 (GRCm39)		probably null	Het
Fsip2	G	T	2: 82,815,120 (GRCm39)	D3618Y	probably damaging	Het
Gabra2	T	C	5: 71,130,886 (GRCm39)	D314G	probably damaging	Het
Gramd1a	A	C	7: 30,835,365 (GRCm39)	D407E	possibly damaging	Het
Grm5	T	A	7: 87,779,202 (GRCm39)	S881T	possibly damaging	Het
Ikbkb	T	A	8: 23,168,852 (GRCm39)	I216F	possibly damaging	Het
Kif3a	T	C	11: 53,488,805 (GRCm39)	V634A	probably benign	Het
Ltbp1	A	T	17: 75,666,333 (GRCm39)	Y1342F	possibly damaging	Het
Mia2	G	T	12: 59,155,807 (GRCm39)	V508L	probably benign	Het
Mtus2	C	T	5: 148,250,223 (GRCm39)	T155M	probably damaging	Het
Napepld	A	T	5: 21,888,287 (GRCm39)	V54E	probably benign	Het
Nlrc4	T	C	17: 74,752,616 (GRCm39)	E589G	probably benign	Het
Nphp3	G	T	9: 103,916,525 (GRCm39)		probably benign	Het
Nr2f1	T	A	13: 78,343,794 (GRCm39)	R10*	probably null	Het
Nsfl1c	C	A	2: 151,352,824 (GRCm39)		probably null	Het
Pcdhgc3	A	G	18: 37,941,581 (GRCm39)	T661A	probably damaging	Het
Pdzrn3	A	G	6: 101,149,332 (GRCm39)	V332A	possibly damaging	Het
Pip4p2	A	G	4: 14,902,506 (GRCm39)	N169S	probably damaging	Het
Pkhd1	C	T	1: 20,271,151 (GRCm39)	C3134Y	probably damaging	Het
Ptprz1	T	C	6: 23,036,894 (GRCm39)	V1131A	probably damaging	Het
Rccd1	T	C	7: 79,970,116 (GRCm39)	E167G	probably benign	Het
Ror1	T	C	4: 100,265,120 (GRCm39)	I198T	possibly damaging	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Scly	C	T	1: 91,230,573 (GRCm39)		probably benign	Het
Scn4a	T	C	11: 106,216,950 (GRCm39)		probably benign	Het
Sh3rf2	T	C	18: 42,286,384 (GRCm39)	S594P	probably damaging	Het
Slc19a1	G	A	10: 76,877,809 (GRCm39)	V115M	possibly damaging	Het
Slc26a6	A	T	9: 108,731,395 (GRCm39)		probably benign	Het
Smg7	C	T	1: 152,728,349 (GRCm39)	R439K	probably null	Het
Spata31e3	T	C	13: 50,400,887 (GRCm39)	K480E	probably benign	Het
Syne2	A	G	12: 76,013,253 (GRCm39)	R2815G	probably damaging	Het
Trim75	G	A	8: 65,435,479 (GRCm39)	R324C	probably damaging	Het
Ucp3	T	C	7: 100,129,458 (GRCm39)	S98P	probably benign	Het
Zscan29	G	C	2: 120,991,212 (GRCm39)	R859G	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTTTGGACTGACCTCTAGTGG -3'
(R):5'- TGACTTCGTTCTCAGCAGGTG -3'

Sequencing Primer
(F):5'- CTCTAGTGGTAGGAATCTTCAGCAC -3'
(R):5'- GACTGCAATGTCTTATGACCG -3'

Posted On

2015-04-06