Mutagenetix > Incidental Mutation

Incidental Mutation 'R5389:Or51v14'

425474

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

042961-MU

Accession Numbers

Essential gene?

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

Stock #

R5389 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103260617-103261558 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 103260797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 254 (Y254*)

Ref Sequence

ENSEMBL: ENSMUSP00000148869 (fasta)

Gene Model

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

AlphaFold

E9PZ66

Predicted Effect

probably null
Transcript: ENSMUST00000052152
AA Change: Y254*

SMART Domains

Protein: ENSMUSP00000061764
Gene: ENSMUSG00000045132
AA Change: Y254*

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

noncoding transcript
Transcript: ENSMUST00000215752

Predicted Effect

probably null
Transcript: ENSMUST00000217603
AA Change: Y254*

Meta Mutation Damage Score

0.9660

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (65/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,638,795 (GRCm39)	V398A	probably benign	Het
A430033K04Rik	T	A	5: 138,644,559 (GRCm39)	V148E	probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Ankrd26	T	A	6: 118,485,536 (GRCm39)	Q1446L	possibly damaging	Het
Anks6	A	T	4: 47,038,900 (GRCm39)		probably benign	Het
Arrb2	T	C	11: 70,329,484 (GRCm39)	S265P	probably damaging	Het
Baiap2	T	C	11: 119,887,496 (GRCm39)	S264P	probably damaging	Het
Cadps2	A	G	6: 23,329,103 (GRCm39)	V938A	probably damaging	Het
Cavin4	G	T	4: 48,663,907 (GRCm39)	V96F	probably damaging	Het
Cenpe	T	C	3: 134,965,149 (GRCm39)		probably null	Het
Crocc2	C	A	1: 93,143,363 (GRCm39)	Q1322K	probably benign	Het
Cryzl2	T	A	1: 157,289,546 (GRCm39)	C61*	probably null	Het
Dazl	T	C	17: 50,595,718 (GRCm39)	I56V	probably benign	Het
Dnah12	A	T	14: 26,456,904 (GRCm39)	D890V	probably damaging	Het
Dnah9	C	A	11: 65,986,140 (GRCm39)	E1165*	probably null	Het
Dnmt3l	T	A	10: 77,892,665 (GRCm39)		probably null	Het
Elp2	A	G	18: 24,739,960 (GRCm39)	N62S	possibly damaging	Het
Entr1	T	C	2: 26,275,559 (GRCm39)	D244G	probably damaging	Het
Fam216b	T	A	14: 78,322,503 (GRCm39)	H26L	possibly damaging	Het
Fbxw25	T	A	9: 109,481,954 (GRCm39)	Q244L	possibly damaging	Het
G530012D18Rik	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Gvin3	T	C	7: 106,197,442 (GRCm39)		noncoding transcript	Het
Igf2r	T	C	17: 12,944,303 (GRCm39)	Y400C	probably damaging	Het
Iqcc	A	G	4: 129,512,413 (GRCm39)	F20L	probably benign	Het
Klhl5	T	A	5: 65,298,625 (GRCm39)	L135M	possibly damaging	Het
Klk1b16	A	T	7: 43,790,412 (GRCm39)	M196L	possibly damaging	Het
Ltf	T	C	9: 110,858,719 (GRCm39)	M489T	possibly damaging	Het
Mctp2	G	T	7: 71,863,835 (GRCm39)	R343S	possibly damaging	Het
Nbas	T	A	12: 13,584,578 (GRCm39)		probably null	Het
Ncr1	A	T	7: 4,343,932 (GRCm39)	M177L	probably benign	Het
Net1	C	T	13: 3,936,170 (GRCm39)	E305K	probably damaging	Het
Nfx1	T	C	4: 40,985,000 (GRCm39)	F375L	probably damaging	Het
Notch3	T	A	17: 32,358,163 (GRCm39)	I1687L	probably benign	Het
Obsl1	A	T	1: 75,479,905 (GRCm39)		probably benign	Het
Or2ag16	A	T	7: 106,352,290 (GRCm39)	F102I	probably damaging	Het
Or2t46	C	G	11: 58,471,825 (GRCm39)	L52V	possibly damaging	Het
Or5g23	A	G	2: 85,438,627 (GRCm39)	F209S	probably benign	Het
Or5j3	G	A	2: 86,128,561 (GRCm39)	V134M	possibly damaging	Het
Or5p79	A	C	7: 108,221,924 (GRCm39)	I302L	probably damaging	Het
Orai1	A	T	5: 123,167,564 (GRCm39)	M246L	probably benign	Het
Pcdhga12	G	A	18: 37,899,785 (GRCm39)	A206T	probably damaging	Het
Plxdc2	C	A	2: 16,654,998 (GRCm39)	T199K	probably damaging	Het
Prkd1	T	A	12: 50,389,920 (GRCm39)	I819F	probably damaging	Het
Ptpn9	T	C	9: 56,964,121 (GRCm39)		probably benign	Het
Rabl6	T	C	2: 25,478,666 (GRCm39)	E255G	probably damaging	Het
Sema3e	T	C	5: 14,286,099 (GRCm39)		probably benign	Het
Serpina3c	T	C	12: 104,115,699 (GRCm39)	M282V	possibly damaging	Het
Slco1a7	A	G	6: 141,686,193 (GRCm39)	F216L	probably benign	Het
Slco2b1	A	G	7: 99,335,132 (GRCm39)	I216T	probably damaging	Het
Slco6b1	T	C	1: 96,916,309 (GRCm39)		noncoding transcript	Het
Slco6d1	A	T	1: 98,371,369 (GRCm39)	I285F	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Sp9	C	A	2: 73,104,641 (GRCm39)	N398K	probably damaging	Het
Sycp2	A	C	2: 178,019,495 (GRCm39)		probably null	Het
Tbc1d23	T	C	16: 57,019,291 (GRCm39)	D219G	probably damaging	Het
Tdpoz3	A	G	3: 93,734,179 (GRCm39)	R285G	probably benign	Het
Trim2	T	A	3: 84,074,960 (GRCm39)	Q694L	probably null	Het
Trim23	T	A	13: 104,328,541 (GRCm39)	V293D	probably damaging	Het
Ttn	A	G	2: 76,665,183 (GRCm39)		probably benign	Het
Vmn2r12	T	A	5: 109,238,261 (GRCm39)	Y493F	probably benign	Het
Vps41	T	A	13: 19,046,708 (GRCm39)	I753N	probably damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Yme1l1	G	A	2: 23,083,246 (GRCm39)	G571R	probably damaging	Het
Zfp322a	A	T	13: 23,541,149 (GRCm39)	C198S	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
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
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'- AGGTTCCCTTCAAGAACAACCG -3'
(R):5'- CTGCCTGCACCAAGACTTAATTAG -3'

Sequencing Primer
(F):5'- AACCGCTGAATTCTCACTCG -3'
(R):5'- CCTGTGGAGATATCCGCTTCAATAG -3'

Posted On

2016-08-04