Mutagenetix > Incidental Mutation

Incidental Mutation 'R0267:Or14a258'

34999

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

038493-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R0267 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

86385657-86386658 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86386267 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 131 (E131G)

Ref Sequence

ENSEMBL: ENSMUSP00000076449 (fasta)

Gene Model

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

AlphaFold

Q7TS03

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077210
AA Change: E131G

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000076449
Gene: ENSMUSG00000062426
AA Change: E131G

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

0.3144

Coding Region Coverage

1x: 98.6%
3x: 97.7%
10x: 96.2%
20x: 94.0%

Validation Efficiency

97% (64/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,046,105 (GRCm38)	F1721S	probably damaging	Het
Adgrb1	G	A	15: 74,529,389 (GRCm38)	R78H	probably damaging	Het
Adgrd1	G	A	5: 129,139,594 (GRCm38)	A342T	probably benign	Het
Adrb1	A	T	19: 56,723,491 (GRCm38)	K374*	probably null	Het
Aldh18a1	C	A	19: 40,573,789 (GRCm38)	V264F	probably benign	Het
Aldh1l2	C	T	10: 83,522,687 (GRCm38)		probably benign	Het
Alox15	T	A	11: 70,346,153 (GRCm38)	H393L	probably damaging	Het
Aox1	A	G	1: 58,339,446 (GRCm38)		probably benign	Het
Appbp2	T	C	11: 85,201,462 (GRCm38)	Y297C	probably damaging	Het
Atxn2l	T	G	7: 126,493,207 (GRCm38)	Q950P	probably damaging	Het
Bicd1	A	T	6: 149,517,042 (GRCm38)	D737V	probably damaging	Het
C9	T	C	15: 6,467,458 (GRCm38)	I212T	probably benign	Het
Ccdc63	A	T	5: 122,117,044 (GRCm38)		probably benign	Het
Chst1	C	A	2: 92,613,606 (GRCm38)	P141Q	probably damaging	Het
Cped1	T	A	6: 22,119,476 (GRCm38)	F311L	probably damaging	Het
D6Wsu163e	T	A	6: 126,946,491 (GRCm38)	H113Q	probably benign	Het
Dcn	A	T	10: 97,506,483 (GRCm38)		probably benign	Het
Dmbx1	C	T	4: 115,918,112 (GRCm38)	A324T	probably benign	Het
Dock10	G	T	1: 80,512,454 (GRCm38)	Q1618K	probably damaging	Het
Dpyd	A	G	3: 118,917,272 (GRCm38)	E443G	probably benign	Het
Espl1	T	C	15: 102,313,017 (GRCm38)	V953A	possibly damaging	Het
Exosc10	T	C	4: 148,562,756 (GRCm38)	L174P	probably damaging	Het
Foxg1	A	G	12: 49,385,582 (GRCm38)	Y366C	probably damaging	Het
Fxyd3	T	C	7: 31,070,734 (GRCm38)		probably benign	Het
Gbp2	T	C	3: 142,630,106 (GRCm38)	V189A	probably benign	Het
Gins4	T	C	8: 23,229,410 (GRCm38)		probably benign	Het
Gm12789	A	G	4: 101,988,122 (GRCm38)	T3A	probably benign	Het
Gnb1l	T	C	16: 18,548,089 (GRCm38)		probably benign	Het
Gtpbp3	T	C	8: 71,491,497 (GRCm38)	L295S	probably damaging	Het
Hrh4	C	A	18: 13,022,398 (GRCm38)	Y331*	probably null	Het
Hsd11b1	A	T	1: 193,241,397 (GRCm38)	Y52N	probably damaging	Het
Jam3	A	G	9: 27,106,405 (GRCm38)	I29T	probably benign	Het
Kctd16	T	A	18: 40,530,877 (GRCm38)	I353N	probably benign	Het
Lama4	G	T	10: 39,028,639 (GRCm38)	G246C	probably damaging	Het
Lhx3	T	A	2: 26,203,028 (GRCm38)	M137L	probably benign	Het
Morc2a	T	C	11: 3,678,567 (GRCm38)	I340T	probably benign	Het
Myo7a	A	C	7: 98,054,624 (GRCm38)	I1969S	probably benign	Het
Or5b116	T	A	19: 13,445,428 (GRCm38)	C139S	probably damaging	Het
Or6n1	A	G	1: 174,089,166 (GRCm38)	N42S	probably damaging	Het
Pclo	T	C	5: 14,681,180 (GRCm38)	L3232P	unknown	Het
Polr1a	T	G	6: 71,974,139 (GRCm38)	I1407M	probably damaging	Het
Ppip5k2	A	G	1: 97,728,997 (GRCm38)	V817A	probably damaging	Het
Rbfox3	T	C	11: 118,495,240 (GRCm38)	T280A	probably benign	Het
Rfx3	T	C	19: 27,793,788 (GRCm38)	D521G	probably benign	Het
Scn5a	C	T	9: 119,543,135 (GRCm38)	V223I	probably damaging	Het
Sgsm3	T	G	15: 81,006,602 (GRCm38)	M119R	probably damaging	Het
Slc6a7	T	A	18: 60,996,711 (GRCm38)	M608L	probably benign	Het
Slit2	A	G	5: 48,182,331 (GRCm38)		probably benign	Het
Steap2	T	A	5: 5,673,561 (GRCm38)	I440F	probably benign	Het
Syn2	T	G	6: 115,254,150 (GRCm38)		probably benign	Het
Taar2	G	A	10: 23,941,495 (GRCm38)	R311H	probably benign	Het
Tfb2m	G	A	1: 179,533,638 (GRCm38)	H262Y	probably benign	Het
Trmt1l	A	G	1: 151,457,675 (GRCm38)		probably benign	Het
Trpm6	C	A	19: 18,823,378 (GRCm38)	P819T	probably benign	Het
Ttn	G	A	2: 76,743,689 (GRCm38)	A25620V	probably damaging	Het
Ubn2	T	C	6: 38,482,618 (GRCm38)		probably null	Het
Vars1	T	C	17: 35,011,596 (GRCm38)		probably benign	Het
Vip	A	T	10: 5,644,004 (GRCm38)	D119V	possibly damaging	Het
Vmn2r92	C	T	17: 18,167,957 (GRCm38)	A408V	probably damaging	Het
Vps33b	T	C	7: 80,286,054 (GRCm38)	I405T	possibly damaging	Het
Zbtb21	T	A	16: 97,952,100 (GRCm38)	S356C	probably damaging	Het
Zdhhc6	A	T	19: 55,308,930 (GRCm38)	S237T	probably benign	Het
Zfp142	G	A	1: 74,576,064 (GRCm38)	A427V	probably benign	Het
Zfp692	T	A	11: 58,314,314 (GRCm38)	V463E	possibly damaging	Het
Zmynd8	A	T	2: 165,828,402 (GRCm38)	I384N	probably damaging	Het

Other mutations in Or14a258

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01391:Or14a258	APN	7	86,386,000 (GRCm38)	missense	possibly damaging	0.95
IGL02152:Or14a258	APN	7	86,386,043 (GRCm38)	missense	probably benign	0.00
IGL02540:Or14a258	APN	7	86,386,178 (GRCm38)	missense	possibly damaging	0.86
IGL03108:Or14a258	APN	7	86,385,721 (GRCm38)	missense	possibly damaging	0.95
IGL03374:Or14a258	APN	7	86,386,366 (GRCm38)	missense	probably damaging	1.00
R0040:Or14a258	UTSW	7	86,386,507 (GRCm38)	missense	probably benign	0.01
R0130:Or14a258	UTSW	7	86,386,306 (GRCm38)	missense	probably damaging	1.00
R0194:Or14a258	UTSW	7	86,386,374 (GRCm38)	nonsense	probably null
R1026:Or14a258	UTSW	7	86,386,259 (GRCm38)	missense	probably damaging	0.98
R1865:Or14a258	UTSW	7	86,386,561 (GRCm38)	missense	probably damaging	1.00
R2090:Or14a258	UTSW	7	86,386,081 (GRCm38)	missense	probably benign	0.01
R3607:Or14a258	UTSW	7	86,385,695 (GRCm38)	missense	probably benign
R3861:Or14a258	UTSW	7	86,386,123 (GRCm38)	missense	possibly damaging	0.60
R3909:Or14a258	UTSW	7	86,385,974 (GRCm38)	missense	probably benign	0.05
R4113:Or14a258	UTSW	7	86,386,525 (GRCm38)	missense	possibly damaging	0.83
R5268:Or14a258	UTSW	7	86,385,659 (GRCm38)	makesense	probably null
R5649:Or14a258	UTSW	7	86,386,313 (GRCm38)	missense	probably damaging	1.00
R6343:Or14a258	UTSW	7	86,385,851 (GRCm38)	nonsense	probably null
R7716:Or14a258	UTSW	7	86,386,054 (GRCm38)	missense	probably benign	0.22
R8118:Or14a258	UTSW	7	86,385,768 (GRCm38)	nonsense	probably null
R9047:Or14a258	UTSW	7	86,386,040 (GRCm38)	missense	probably benign	0.05
R9503:Or14a258	UTSW	7	86,386,020 (GRCm38)	missense	probably benign	0.00
R9528:Or14a258	UTSW	7	86,385,851 (GRCm38)	nonsense	probably null
X0054:Or14a258	UTSW	7	86,385,730 (GRCm38)	missense	probably benign	0.00
X0063:Or14a258	UTSW	7	86,386,492 (GRCm38)	missense	probably damaging	1.00
Z1186:Or14a258	UTSW	7	86,386,279 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCAAATGCTTTGGACTGACCTC -3'
(R):5'- AACCTGCTCATCATCACGGTCATC -3'

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

Posted On

2013-05-09