Mutagenetix > Incidental Mutation

Incidental Mutation 'R3690:Or14a256'

269726

Institutional Source

Beutler Lab

Gene Symbol

Or14a256

Ensembl Gene

ENSMUSG00000062042

Gene Name

olfactory receptor family 14 subfamily A member 256

Synonyms

Olfr294, MOR219-5, GA_x6K02T2NHDJ-9504525-9505532

MMRRC Submission

040685-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R3690 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86264844-86265851 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86265686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 56 (P56S)

Ref Sequence

ENSEMBL: ENSMUSP00000077662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078588]

AlphaFold

F7CWV4

Predicted Effect

probably damaging
Transcript: ENSMUST00000078588
AA Change: P56S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077662
Gene: ENSMUSG00000062042
AA Change: P56S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	309	1.2e-38	PFAM
Pfam:7tm_1	39	288	1.8e-22	PFAM

Meta Mutation Damage Score

0.3930

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (54/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,091,328 (GRCm39)	Y629F	probably benign	Het
Abcb5	T	A	12: 118,836,668 (GRCm39)	D1081V	probably damaging	Het
Afdn	A	G	17: 14,108,671 (GRCm39)	E1398G	probably damaging	Het
Atp8b5	T	C	4: 43,368,055 (GRCm39)	C893R	probably damaging	Het
Avl9	C	T	6: 56,713,812 (GRCm39)	H357Y	probably benign	Het
Bclaf1	C	T	10: 20,201,143 (GRCm39)	T423I	possibly damaging	Het
Btbd19	A	T	4: 116,977,789 (GRCm39)		probably benign	Het
Cap1	A	G	4: 122,758,419 (GRCm39)	S254P	probably damaging	Het
Cdc42ep1	T	C	15: 78,731,629 (GRCm39)	S25P	probably benign	Het
Cln6	T	C	9: 62,754,252 (GRCm39)	I98T	possibly damaging	Het
Cul9	T	C	17: 46,814,957 (GRCm39)		probably null	Het
Dcx	T	C	X: 142,660,240 (GRCm39)	E268G	possibly damaging	Het
Ddias	G	A	7: 92,509,366 (GRCm39)	P183L	probably benign	Het
Dnase2b	A	T	3: 146,299,326 (GRCm39)	Y42*	probably null	Het
Dusp16	C	T	6: 134,738,082 (GRCm39)		probably benign	Het
Egfr	T	C	11: 16,821,881 (GRCm39)		probably benign	Het
Fam171a1	T	C	2: 3,227,393 (GRCm39)	V842A	probably benign	Het
Folr1	T	C	7: 101,507,745 (GRCm39)	S232G	probably benign	Het
Foxj3	T	C	4: 119,473,839 (GRCm39)		probably benign	Het
Fpr-rs6	T	C	17: 20,403,137 (GRCm39)	M75V	probably benign	Het
Fxyd5	G	T	7: 30,735,864 (GRCm39)	L128M	possibly damaging	Het
Gigyf2	T	C	1: 87,349,238 (GRCm39)	S500P	possibly damaging	Het
Inppl1	A	G	7: 101,481,275 (GRCm39)	L268P	probably damaging	Het
Klk1b24	A	T	7: 43,841,243 (GRCm39)	H192L	probably benign	Het
Llgl1	T	G	11: 60,597,828 (GRCm39)	Y316D	probably damaging	Het
Lmbrd1	T	A	1: 24,801,374 (GRCm39)	*143R	probably null	Het
Map3k15	T	A	X: 158,905,568 (GRCm39)	N1295K	possibly damaging	Het
Mcm3ap	A	G	10: 76,318,513 (GRCm39)	E678G	probably damaging	Het
Mrpl44	T	A	1: 79,757,366 (GRCm39)	Y270*	probably null	Het
Nav1	T	A	1: 135,395,382 (GRCm39)	I996L	probably benign	Het
Neb	T	C	2: 52,027,397 (GRCm39)	E6868G	probably damaging	Het
Nexmif	A	T	X: 103,131,213 (GRCm39)	Y235N	probably damaging	Het
Nup50	C	T	15: 84,823,994 (GRCm39)	T449M	probably damaging	Het
Or2b6	A	G	13: 21,823,508 (GRCm39)	F62L	probably damaging	Het
Or51aa2	T	C	7: 103,188,274 (GRCm39)	T56A	probably benign	Het
Or52e8b	A	G	7: 104,673,902 (GRCm39)	L95P	probably damaging	Het
Or52n2	T	C	7: 104,542,724 (GRCm39)	Y37C	possibly damaging	Het
Pald1	A	T	10: 61,191,587 (GRCm39)		probably null	Het
Pde11a	T	A	2: 76,121,510 (GRCm39)	K357I	probably damaging	Het
Ric3	A	G	7: 108,637,817 (GRCm39)	V312A	possibly damaging	Het
Scaper	C	T	9: 55,791,205 (GRCm39)	G231D	probably benign	Het
Smc1b	T	A	15: 85,001,464 (GRCm39)		probably benign	Het
Smcr8	A	G	11: 60,668,854 (GRCm39)	M1V	probably null	Het
Smtn	T	C	11: 3,477,687 (GRCm39)		probably benign	Het
Spatc1	A	T	15: 76,152,495 (GRCm39)	K42*	probably null	Het
Taf7l	A	T	X: 133,365,074 (GRCm39)	I449K	probably damaging	Het
Tex47	A	G	5: 7,354,777 (GRCm39)		probably benign	Het
Tram2	T	A	1: 21,075,824 (GRCm39)	Y198F	probably damaging	Het
Ttn	C	G	2: 76,629,588 (GRCm39)	W14284C	probably damaging	Het
Ube3a	A	G	7: 58,926,547 (GRCm39)	K442E	probably damaging	Het
Vmn2r116	T	A	17: 23,603,798 (GRCm39)	F8I	unknown	Het
Vmn2r59	A	G	7: 41,661,370 (GRCm39)	F815S	possibly damaging	Het
Zap70	T	C	1: 36,820,493 (GRCm39)	C563R	probably damaging	Het
Zfp579	T	C	7: 4,997,719 (GRCm39)	H64R	probably damaging	Het

Other mutations in Or14a256

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01365:Or14a256	APN	7	86,265,205 (GRCm39)	missense	probably damaging	1.00
IGL02617:Or14a256	APN	7	86,264,872 (GRCm39)	missense	probably benign	0.14
IGL02694:Or14a256	APN	7	86,265,518 (GRCm39)	missense	probably benign	0.00
IGL02828:Or14a256	APN	7	86,265,277 (GRCm39)	missense	possibly damaging	0.67
IGL03229:Or14a256	APN	7	86,265,286 (GRCm39)	missense	probably benign	0.00
IGL03351:Or14a256	APN	7	86,264,885 (GRCm39)	missense	possibly damaging	0.68
PIT4802001:Or14a256	UTSW	7	86,265,763 (GRCm39)	missense	probably null	1.00
R0848:Or14a256	UTSW	7	86,264,848 (GRCm39)	missense	probably damaging	0.96
R1448:Or14a256	UTSW	7	86,265,569 (GRCm39)	missense	probably damaging	1.00
R1720:Or14a256	UTSW	7	86,265,664 (GRCm39)	missense	probably damaging	1.00
R1734:Or14a256	UTSW	7	86,265,425 (GRCm39)	missense	probably benign	0.07
R1959:Or14a256	UTSW	7	86,265,639 (GRCm39)	missense	probably benign	0.00
R2116:Or14a256	UTSW	7	86,265,286 (GRCm39)	missense	probably benign	0.00
R2518:Or14a256	UTSW	7	86,265,395 (GRCm39)	missense	probably benign	0.03
R3034:Or14a256	UTSW	7	86,264,970 (GRCm39)	missense	possibly damaging	0.50
R3110:Or14a256	UTSW	7	86,264,884 (GRCm39)	missense	probably benign
R3112:Or14a256	UTSW	7	86,264,884 (GRCm39)	missense	probably benign
R4612:Or14a256	UTSW	7	86,264,944 (GRCm39)	missense	probably benign	0.00
R6476:Or14a256	UTSW	7	86,265,218 (GRCm39)	missense	probably benign	0.04
R6895:Or14a256	UTSW	7	86,265,323 (GRCm39)	missense	probably damaging	1.00
R7102:Or14a256	UTSW	7	86,265,475 (GRCm39)	missense	probably benign	0.25
R7104:Or14a256	UTSW	7	86,264,900 (GRCm39)	missense	probably null	0.07
R7179:Or14a256	UTSW	7	86,265,574 (GRCm39)	missense	possibly damaging	0.76
R7256:Or14a256	UTSW	7	86,264,873 (GRCm39)	missense	probably benign	0.03
R7624:Or14a256	UTSW	7	86,265,769 (GRCm39)	missense	possibly damaging	0.47
R8422:Or14a256	UTSW	7	86,265,466 (GRCm39)	missense	probably benign	0.13
R9432:Or14a256	UTSW	7	86,265,065 (GRCm39)	missense	possibly damaging	0.66
R9700:Or14a256	UTSW	7	86,265,618 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTCATAGTGTAGGGGACAGC -3'
(R):5'- TGTGGAAGACTCTAGCATGCTC -3'

Sequencing Primer
(F):5'- CATGGCTGTTAGGACAAATACGTCTC -3'
(R):5'- TCAATGCCACTAGAATAACAGGGTTC -3'

Posted On

2015-02-19