Mutagenetix > Incidental Mutation

Incidental Mutation 'R7234:Or51v14'

562702

Institutional Source

Beutler Lab

Gene Symbol

Or51v14

Ensembl Gene

ENSMUSG00000045132

Gene Name

olfactory receptor family 51 subfamily V member 14

Synonyms

MOR4-1, Olfr620, GA_x6K02T2PBJ9-6335095-6334154

MMRRC Submission

045304-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R7234 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103260617-103261558 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103261089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 157 (L157P)

Ref Sequence

ENSEMBL: ENSMUSP00000061764 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052152] [ENSMUST00000217603]

AlphaFold

E9PZ66

Predicted Effect

probably damaging
Transcript: ENSMUST00000052152
AA Change: L157P

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000061764
Gene: ENSMUSG00000045132
AA Change: L157P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	1.6e-137	PFAM
Pfam:7tm_1	43	294	4.5e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217603
AA Change: L157P

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy3	T	A	19: 4,037,758 (GRCm39)	Y88*	probably null	Het
AI606181	T	A	19: 41,582,076 (GRCm39)	I82N	unknown	Het
Akap1	T	C	11: 88,729,808 (GRCm39)	Y638C	probably damaging	Het
Angpt1	T	C	15: 42,323,121 (GRCm39)	N383D	probably benign	Het
Ank	T	C	15: 27,571,742 (GRCm39)		probably null	Het
Aoc1	C	T	6: 48,882,750 (GRCm39)	Q209*	probably null	Het
Apol7c	A	T	15: 77,409,875 (GRCm39)	L357*	probably null	Het
Atxn2l	A	G	7: 126,092,373 (GRCm39)	L958P	probably damaging	Het
Cab39l	T	A	14: 59,734,395 (GRCm39)		probably null	Het
Cdk5rap2	A	G	4: 70,295,024 (GRCm39)		probably null	Het
Cdkn3	T	C	14: 47,008,918 (GRCm39)	S204P	unknown	Het
Cds2	T	C	2: 132,146,400 (GRCm39)		probably null	Het
Cideb	C	T	14: 55,992,017 (GRCm39)	R179H	probably benign	Het
Cped1	A	G	6: 22,254,625 (GRCm39)	Q1006R	probably damaging	Het
Csmd2	A	G	4: 128,350,572 (GRCm39)	Y1547C		Het
Dicer1	A	G	12: 104,675,108 (GRCm39)	L718S	probably damaging	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dyrk2	T	C	10: 118,696,136 (GRCm39)	H374R	possibly damaging	Het
Edem2	A	T	2: 155,552,886 (GRCm39)	Y283N	probably benign	Het
Ero1b	A	T	13: 12,615,203 (GRCm39)	S345C	possibly damaging	Het
Fam83g	T	C	11: 61,593,342 (GRCm39)	V292A	possibly damaging	Het
Farp2	A	G	1: 93,507,841 (GRCm39)	D513G	possibly damaging	Het
Fbxl5	A	G	5: 43,915,562 (GRCm39)	W617R	probably benign	Het
Fzd7	G	A	1: 59,522,443 (GRCm39)	V109M	probably damaging	Het
Gbp5	A	T	3: 142,226,898 (GRCm39)	H583L	probably benign	Het
Gm10306	T	A	4: 94,445,032 (GRCm39)	L84M	unknown	Het
Gsap	A	G	5: 21,391,433 (GRCm39)	T25A	probably benign	Het
Hectd4	G	T	5: 121,467,136 (GRCm39)	R2466L	possibly damaging	Het
Ide	C	A	19: 37,268,184 (GRCm39)	C557F		Het
Ift70a2	A	T	2: 75,806,540 (GRCm39)	Y657*	probably null	Het
Igdcc4	T	A	9: 65,042,750 (GRCm39)	C1234*	probably null	Het
Ints4	A	G	7: 97,179,507 (GRCm39)	I701V	probably benign	Het
Kalrn	T	A	16: 33,996,792 (GRCm39)	I1467F	possibly damaging	Het
Kcnip3	C	A	2: 127,363,256 (GRCm39)	R2M	unknown	Het
Kcnrg	A	T	14: 61,845,531 (GRCm39)	E190D	unknown	Het
Klk13	T	C	7: 43,370,841 (GRCm39)	L131P	probably damaging	Het
Lhcgr	A	T	17: 89,099,359 (GRCm39)	L14Q	possibly damaging	Het
Mdm4	A	T	1: 132,938,853 (GRCm39)	D80E	probably damaging	Het
Mib2	G	T	4: 155,742,350 (GRCm39)	Q311K	probably damaging	Het
Msantd5f9	G	T	4: 73,835,808 (GRCm39)	L219M	probably benign	Het
Mycbp2	A	T	14: 103,452,773 (GRCm39)	S1703T	probably damaging	Het
Naip6	A	T	13: 100,452,011 (GRCm39)	C200*	probably null	Het
Ncapd3	T	A	9: 26,961,655 (GRCm39)	I361N	probably damaging	Het
Nom1	A	G	5: 29,640,451 (GRCm39)	E259G	probably benign	Het
Or10j5	T	A	1: 172,784,673 (GRCm39)	F104I	probably damaging	Het
Plxna2	A	T	1: 194,488,698 (GRCm39)	H1658L	probably damaging	Het
Ranbp6	T	C	19: 29,789,462 (GRCm39)	T297A	possibly damaging	Het
Rap1gap	T	A	4: 137,455,851 (GRCm39)	C722*	probably null	Het
Ribc2	A	G	15: 85,019,733 (GRCm39)	K172E	probably benign	Het
Scamp5	C	A	9: 57,354,423 (GRCm39)	W77L	probably damaging	Het
Scin	T	A	12: 40,130,957 (GRCm39)	K319*	probably null	Het
Sec16a	G	T	2: 26,329,780 (GRCm39)	T745K	probably damaging	Het
Slc15a2	G	A	16: 36,578,173 (GRCm39)	A403V	probably benign	Het
Slco6c1	A	G	1: 97,053,466 (GRCm39)	V145A	probably benign	Het
Sncaip	C	T	18: 53,048,416 (GRCm39)	H951Y	probably benign	Het
Spem1	A	G	11: 69,712,630 (GRCm39)		probably null	Het
Spen	C	T	4: 141,206,446 (GRCm39)	R727Q	unknown	Het
Thra	T	C	11: 98,654,544 (GRCm39)	S305P	probably damaging	Het
Tlr1	A	G	5: 65,084,067 (GRCm39)	V170A	probably damaging	Het
Tmem260	T	A	14: 48,742,786 (GRCm39)	C388*	probably null	Het
Tmem60	T	A	5: 21,091,619 (GRCm39)	V128D	possibly damaging	Het
Tpo	G	A	12: 30,142,685 (GRCm39)	P680S	probably benign	Het
Umodl1	A	G	17: 31,205,595 (GRCm39)	E730G	possibly damaging	Het
Vmn2r69	T	C	7: 85,056,315 (GRCm39)	T608A	probably benign	Het
Xrra1	G	A	7: 99,563,456 (GRCm39)	S481N	possibly damaging	Het
Zc3h4	G	A	7: 16,162,961 (GRCm39)	V446I	unknown	Het

Other mutations in Or51v14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02807:Or51v14	APN	7	103,261,198 (GRCm39)	missense	probably benign	0.34
R0496:Or51v14	UTSW	7	103,261,204 (GRCm39)	missense	probably benign	0.09
R0834:Or51v14	UTSW	7	103,261,444 (GRCm39)	missense	probably benign	0.00
R1957:Or51v14	UTSW	7	103,260,618 (GRCm39)	makesense	probably null
R1958:Or51v14	UTSW	7	103,260,618 (GRCm39)	makesense	probably null
R2158:Or51v14	UTSW	7	103,261,443 (GRCm39)	missense	possibly damaging	0.66
R3797:Or51v14	UTSW	7	103,260,654 (GRCm39)	missense	probably benign	0.37
R5389:Or51v14	UTSW	7	103,260,797 (GRCm39)	nonsense	probably null
R6292:Or51v14	UTSW	7	103,261,386 (GRCm39)	missense	probably damaging	0.99
R6374:Or51v14	UTSW	7	103,261,128 (GRCm39)	missense	probably benign	0.23
R6422:Or51v14	UTSW	7	103,261,221 (GRCm39)	missense	probably damaging	1.00
R6586:Or51v14	UTSW	7	103,261,183 (GRCm39)	missense	possibly damaging	0.81
R7393:Or51v14	UTSW	7	103,261,198 (GRCm39)	missense	possibly damaging	0.90
R7855:Or51v14	UTSW	7	103,260,979 (GRCm39)	missense	possibly damaging	0.88
R7900:Or51v14	UTSW	7	103,260,900 (GRCm39)	missense	possibly damaging	0.82
R8159:Or51v14	UTSW	7	103,261,347 (GRCm39)	missense	possibly damaging	0.63
R8265:Or51v14	UTSW	7	103,261,048 (GRCm39)	missense	possibly damaging	0.95
R8314:Or51v14	UTSW	7	103,261,254 (GRCm39)	missense	probably damaging	1.00
R9182:Or51v14	UTSW	7	103,261,063 (GRCm39)	missense	possibly damaging	0.57

Predicted Primers

PCR Primer
(F):5'- TGAGTCCACTAACAAGTTGCTG -3'
(R):5'- TGTGCACACGGTAATGGGTATC -3'

Sequencing Primer
(F):5'- TTGCTGATCACCAGAGCTAG -3'
(R):5'- TCAAGAGATCAGCCTTGATGCCTG -3'

Posted On

2019-06-26