Mutagenetix > Incidental Mutation

Incidental Mutation 'R7855:Or51v14'

607188

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

045908-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R7855 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103260617-103261558 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103260979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 194 (I194F)

Ref Sequence

ENSEMBL: ENSMUSP00000061764 (fasta)

Gene Model

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

AlphaFold

E9PZ66

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052152
AA Change: I194F

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000061764
Gene: ENSMUSG00000045132
AA Change: I194F

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

possibly damaging
Transcript: ENSMUST00000217603
AA Change: I194F

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

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

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,082,454 (GRCm39)	V1173D	probably benign	Het
Ace	A	T	11: 105,863,205 (GRCm39)	M327L	probably benign	Het
Bcl2l2	C	T	14: 55,121,836 (GRCm39)		probably benign	Het
Bicdl2	C	T	17: 23,884,991 (GRCm39)	Q231*	probably null	Het
Brms1l	A	T	12: 55,912,838 (GRCm39)	D277V	possibly damaging	Het
Cd38	C	A	5: 44,058,790 (GRCm39)	L135M	probably damaging	Het
Col6a3	G	T	1: 90,738,343 (GRCm39)	P1059T	possibly damaging	Het
Coro1c	A	T	5: 113,986,658 (GRCm39)	M262K	probably benign	Het
Cpxm2	G	T	7: 131,659,424 (GRCm39)	P481Q	possibly damaging	Het
Dipk1c	G	A	18: 84,748,171 (GRCm39)		probably benign	Het
Dnah12	G	T	14: 26,551,286 (GRCm39)	V2543F	probably benign	Het
Dock2	A	C	11: 34,223,698 (GRCm39)	D1145E	probably damaging	Het
Elf3	G	A	1: 135,182,090 (GRCm39)	R364W	probably damaging	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,739,935 (GRCm39)		probably benign	Het
Epha3	A	G	16: 63,593,923 (GRCm39)	I55T	probably damaging	Het
Gfer	C	A	17: 24,913,259 (GRCm39)	D198Y	probably damaging	Het
Gm11568	A	T	11: 99,749,010 (GRCm39)	T72S	unknown	Het
Igkv3-1	C	T	6: 70,681,053 (GRCm39)	A84V	probably benign	Het
Il1rl2	A	C	1: 40,382,279 (GRCm39)	Y197S	probably damaging	Het
Il2ra	T	C	2: 11,685,147 (GRCm39)	I161T	possibly damaging	Het
Itgb8	C	T	12: 119,130,507 (GRCm39)	R667H	probably benign	Het
Kcnh7	G	A	2: 62,667,538 (GRCm39)	Q334*	probably null	Het
Lctl	A	C	9: 64,040,498 (GRCm39)	R480S	possibly damaging	Het
Lrba	T	G	3: 86,222,737 (GRCm39)	I617S	possibly damaging	Het
Marf1	G	T	16: 13,932,065 (GRCm39)	H1651N	probably benign	Het
Mitf	T	A	6: 97,970,157 (GRCm39)	Y142N	probably damaging	Het
Or52r1	A	G	7: 102,536,835 (GRCm39)	V175A	probably benign	Het
Pecam1	A	G	11: 106,562,576 (GRCm39)	V708A	probably benign	Het
Pinlyp	C	T	7: 24,241,865 (GRCm39)		probably null	Het
Polh	G	A	17: 46,486,174 (GRCm39)	R382W	probably damaging	Het
Pramel51	A	T	12: 88,142,853 (GRCm39)	I450N	probably benign	Het
Prdm10	A	G	9: 31,238,770 (GRCm39)	I221V	probably benign	Het
Pskh1	G	T	8: 106,639,722 (GRCm39)	R134L	probably benign	Het
Ptpre	A	G	7: 135,253,724 (GRCm39)	N6D	probably benign	Het
Rasgrp4	C	T	7: 28,850,035 (GRCm39)	P58L	unknown	Het
Rhbdf2	G	T	11: 116,493,066 (GRCm39)	C393*	probably null	Het
Rlf	T	C	4: 121,039,888 (GRCm39)	I174M	possibly damaging	Het
Ryr2	T	A	13: 11,721,509 (GRCm39)	R2641*	probably null	Het
Semp2l1	A	C	1: 32,585,114 (GRCm39)	I265M	probably damaging	Het
Simc1	A	G	13: 54,672,645 (GRCm39)	H331R	probably benign	Het
Skp2	A	G	15: 9,122,328 (GRCm39)	S256P	probably benign	Het
Smarcd2	T	C	11: 106,158,392 (GRCm39)	R10G	probably benign	Het
Spef2	A	G	15: 9,687,981 (GRCm39)	L480P	possibly damaging	Het
Tenm4	A	G	7: 96,523,081 (GRCm39)	H1541R	probably damaging	Het
Top1	T	A	2: 160,556,008 (GRCm39)	L489Q	probably damaging	Het
Ttll13	C	T	7: 79,903,845 (GRCm39)	H258Y	probably damaging	Het
Unc80	A	G	1: 66,522,508 (GRCm39)	R237G	possibly damaging	Het
Vmn1r55	A	G	7: 5,149,623 (GRCm39)	F267L	probably benign	Het
Vmn2r96	T	A	17: 18,818,130 (GRCm39)	M761K	possibly damaging	Het
Vps33a	G	A	5: 123,709,042 (GRCm39)	H58Y	possibly damaging	Het
Zfp1002	C	T	2: 150,097,066 (GRCm39)	R121Q	probably benign	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp467	T	C	6: 48,416,115 (GRCm39)	Q179R	probably damaging	Het
Zfp729a	A	T	13: 67,768,067 (GRCm39)	S721T	possibly damaging	Het
Zfta	T	A	19: 7,399,621 (GRCm39)	I456N	probably damaging	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
R7234:Or51v14	UTSW	7	103,261,089 (GRCm39)	missense	probably damaging	0.97
R7393:Or51v14	UTSW	7	103,261,198 (GRCm39)	missense	possibly damaging	0.90
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'- TCCCAAAGCGGTGAACCATG -3'
(R):5'- GCCATTTGCAACCCTCTACG -3'

Sequencing Primer
(F):5'- CGGTGAACCATGGTCAGAC -3'
(R):5'- GCTATTCCTCCATCCTAACCAATGAC -3'

Posted On

2019-12-20