Mutagenetix > Incidental Mutation

Incidental Mutation 'R1734:Or14a256'

199570

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

039766-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R1734 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86264844-86265851 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86265425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 143 (V143M)

Ref Sequence

ENSEMBL: ENSMUSP00000077662 (fasta)

Gene Model

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

AlphaFold

F7CWV4

Predicted Effect

probably benign
Transcript: ENSMUST00000078588
AA Change: V143M

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000077662
Gene: ENSMUSG00000062042
AA Change: V143M

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

0.0898

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (59/60)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	T	4: 144,396,596 (GRCm39)	C379S	probably benign	Het
Abca13	T	C	11: 9,535,460 (GRCm39)	C4695R	probably benign	Het
Actr10	T	A	12: 71,008,770 (GRCm39)	V401E	probably benign	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Aimp1	A	T	3: 132,380,557 (GRCm39)	I59K	probably damaging	Het
Alms1	T	A	6: 85,618,532 (GRCm39)		probably null	Het
Anln	A	T	9: 22,262,251 (GRCm39)	S947T	possibly damaging	Het
Atp2c1	T	C	9: 105,291,854 (GRCm39)	T733A	probably damaging	Het
BC049715	C	T	6: 136,817,306 (GRCm39)	P182L	probably damaging	Het
Cblb	T	C	16: 52,006,603 (GRCm39)		probably benign	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Chac1	A	T	2: 119,183,939 (GRCm39)	L180F	probably damaging	Het
Cherp	A	T	8: 73,223,932 (GRCm39)		probably null	Het
Ckap4	A	G	10: 84,363,738 (GRCm39)	S442P	probably benign	Het
Clstn3	G	A	6: 124,413,773 (GRCm39)		probably benign	Het
Crb2	T	A	2: 37,683,668 (GRCm39)	C1057S	probably damaging	Het
Dact2	T	C	17: 14,416,901 (GRCm39)	D433G	probably benign	Het
Dnah6	G	A	6: 73,021,744 (GRCm39)	T3526M	probably damaging	Het
Ethe1	A	G	7: 24,307,809 (GRCm39)	T210A	probably benign	Het
Fat2	A	G	11: 55,172,197 (GRCm39)	S2839P	probably benign	Het
Fbxl7	T	C	15: 26,543,735 (GRCm39)	Y304C	probably damaging	Het
Gad1-ps	A	T	10: 99,281,637 (GRCm39)		noncoding transcript	Het
Grm3	C	T	5: 9,639,742 (GRCm39)	R101K	probably benign	Het
Hspa12b	A	G	2: 130,980,456 (GRCm39)	Y125C	possibly damaging	Het
Il10ra	T	C	9: 45,167,241 (GRCm39)	T437A	probably benign	Het
Itprid2	G	A	2: 79,488,166 (GRCm39)	V750M	probably damaging	Het
Jcad	T	C	18: 4,674,526 (GRCm39)	F763L	probably damaging	Het
Map3k10	T	C	7: 27,357,540 (GRCm39)	D746G	probably damaging	Het
Mettl9	T	A	7: 120,647,064 (GRCm39)	Y57N	probably damaging	Het
Nav2	G	A	7: 49,225,468 (GRCm39)	E1803K	probably damaging	Het
Nol11	G	A	11: 107,066,449 (GRCm39)	S447L	possibly damaging	Het
Osbpl1a	T	C	18: 12,921,373 (GRCm39)		probably null	Het
Pde6a	A	G	18: 61,419,036 (GRCm39)	N804S	probably damaging	Het
Pepd	A	T	7: 34,730,851 (GRCm39)	D301V	probably benign	Het
Piwil2	A	T	14: 70,663,954 (GRCm39)		probably null	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Prrc2a	A	G	17: 35,369,683 (GRCm39)	S1877P	possibly damaging	Het
Retreg2	G	T	1: 75,119,630 (GRCm39)		probably null	Het
Slc7a11	G	A	3: 50,326,795 (GRCm39)	Q489*	probably null	Het
Sned1	G	A	1: 93,187,490 (GRCm39)	D256N	probably damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Spmip9	T	A	6: 70,890,645 (GRCm39)	Q49L	probably benign	Het
Syce2	G	A	8: 85,613,776 (GRCm39)	E168K	probably benign	Het
Tmem260	G	T	14: 48,746,550 (GRCm39)	V609L	probably benign	Het
Trim35	A	G	14: 66,546,778 (GRCm39)	D515G	probably damaging	Het
Tspan5	T	C	3: 138,603,901 (GRCm39)	Y131H	probably damaging	Het
Ttbk2	T	C	2: 120,586,319 (GRCm39)	I466V	probably benign	Het
Ttn	T	C	2: 76,576,157 (GRCm39)	D24912G	probably damaging	Het
Utp20	A	T	10: 88,603,323 (GRCm39)	N1843K	probably damaging	Het
Vmn1r20	A	G	6: 57,409,285 (GRCm39)	R204G	probably damaging	Het
Vps18	A	T	2: 119,124,423 (GRCm39)	Q450L	probably benign	Het
Zbtb4	A	G	11: 69,667,289 (GRCm39)	E198G	probably benign	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
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
R3690:Or14a256	UTSW	7	86,265,686 (GRCm39)	missense	probably damaging	1.00
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'- ATGACCACAAGTGTGTCAGAGCAG -3'
(R):5'- CGCTCATCACCCTGGATCTGAAAC -3'

Sequencing Primer
(F):5'- TGTCAGAGCAGGAGATCCTTAAC -3'
(R):5'- ACACCCATGTACTTTTTCTTGAAG -3'

Posted On

2014-05-23