Mutagenetix > Incidental Mutation

Incidental Mutation 'R9700:Or14a256'

729514

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

Accession Numbers

Essential gene?

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

Stock #

R9700 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86264844-86265851 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86265618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 78 (N78K)

Ref Sequence

ENSEMBL: ENSMUSP00000077662 (fasta)

Gene Model

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

AlphaFold

F7CWV4

Predicted Effect

probably benign
Transcript: ENSMUST00000078588
AA Change: N78K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000077662
Gene: ENSMUSG00000062042
AA Change: N78K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	C	T	15: 11,311,442 (GRCm39)	S1233F	probably benign	Het
Aldh1a2	G	T	9: 71,123,228 (GRCm39)	E34*	probably null	Het
Arhgap39	T	C	15: 76,611,617 (GRCm39)	T856A	probably damaging	Het
Arpin	A	G	7: 79,578,015 (GRCm39)	V138A	probably damaging	Het
Art3	T	G	5: 92,562,120 (GRCm39)	S373A	unknown	Het
AU018091	A	T	7: 3,208,165 (GRCm39)	I514N	probably benign	Het
BC034090	C	T	1: 155,101,982 (GRCm39)	R94H	probably damaging	Het
C2cd6	T	G	1: 59,117,089 (GRCm39)	M135L	probably benign	Het
Cdc42ep2	T	C	19: 5,968,097 (GRCm39)	M203V	probably damaging	Het
Cftr	T	C	6: 18,268,359 (GRCm39)	Y803H	probably damaging	Het
Dcaf1	C	T	9: 106,735,524 (GRCm39)	T824I	probably benign	Het
Ddr1	A	T	17: 35,993,288 (GRCm39)	D906E	probably damaging	Het
Dhx8	G	A	11: 101,624,015 (GRCm39)		probably null	Het
Dpysl5	C	T	5: 30,904,417 (GRCm39)	Q88*	probably null	Het
Ercc6l2	A	G	13: 63,967,525 (GRCm39)	T42A	probably benign	Het
Faf1	A	G	4: 109,748,179 (GRCm39)	K495E	possibly damaging	Het
Hr	T	C	14: 70,804,616 (GRCm39)	V928A	probably benign	Het
Ints14	C	T	9: 64,880,007 (GRCm39)	R174*	probably null	Het
Jam3	T	C	9: 27,010,183 (GRCm39)	Y267C	probably damaging	Het
Lpin3	A	T	2: 160,740,565 (GRCm39)	N370I	probably benign	Het
Mad2l1	C	A	6: 66,512,955 (GRCm39)	N29K	probably damaging	Het
Myt1	A	G	2: 181,452,177 (GRCm39)	K838R	probably damaging	Het
Ninj2	T	C	6: 120,174,873 (GRCm39)	S15P	probably benign	Het
Or1j14	T	A	2: 36,418,313 (GRCm39)	D296E	probably benign	Het
Or6b9	A	G	7: 106,555,630 (GRCm39)	V171A	probably benign	Het
Or9a2	T	A	6: 41,749,076 (GRCm39)	K52N	probably benign	Het
Osgin2	A	G	4: 16,006,455 (GRCm39)	S80P	probably damaging	Het
Pcdha5	A	G	18: 37,094,447 (GRCm39)	N319D	probably benign	Het
Phkb	A	G	8: 86,567,696 (GRCm39)	K14E	probably benign	Het
Pip5k1b	T	C	19: 24,281,460 (GRCm39)	Y518C	probably benign	Het
Polh	A	T	17: 46,510,414 (GRCm39)	M14K	probably damaging	Het
Prtg	A	G	9: 72,762,313 (GRCm39)	D480G	probably benign	Het
Ptprk	T	C	10: 28,456,495 (GRCm39)	V1099A	probably damaging	Het
Pum2	T	C	12: 8,779,044 (GRCm39)	F539L	probably damaging	Het
Rac3	A	T	11: 120,613,399 (GRCm39)	T58S	probably damaging	Het
Setd1a	A	T	7: 127,385,752 (GRCm39)	I820F	possibly damaging	Het
Six2	A	G	17: 85,994,867 (GRCm39)	F172L	probably damaging	Het
Spic	T	A	10: 88,515,757 (GRCm39)	I22F	probably benign	Het
Tex30	T	C	1: 44,130,374 (GRCm39)		probably null	Het
Tgfbi	T	C	13: 56,778,411 (GRCm39)	I394T	probably benign	Het
Tnc	A	G	4: 63,933,186 (GRCm39)	F693L	probably damaging	Het
Ubr4	T	A	4: 139,119,388 (GRCm39)	V189E	probably damaging	Het
Vegfa	G	A	17: 46,342,713 (GRCm39)	P35L	probably damaging	Het
Zan	T	C	5: 137,454,836 (GRCm39)	H1400R	unknown	Het
Zfp36l2	A	G	17: 84,494,184 (GRCm39)	I151T	possibly damaging	Het
Zfp809	T	C	9: 22,154,470 (GRCm39)	C396R	unknown	Het
Zfp93	G	A	7: 23,974,894 (GRCm39)	G293D	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
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

Predicted Primers

PCR Primer
(F):5'- ACAGAATTCCAGTAGCCCAGG -3'
(R):5'- TCGGTTGCTCCTGAACTACAG -3'

Sequencing Primer
(F):5'- CAGTTACGACTACTCATGATGGTC -3'
(R):5'- AACTACAGACTGTGTGTGGGC -3'

Posted On

2022-10-06