Mutagenetix > Incidental Mutation

Incidental Mutation 'R6370:Or51f2'

513474

Institutional Source

Beutler Lab

Gene Symbol

Or51f2

Ensembl Gene

ENSMUSG00000073965

Gene Name

olfactory receptor family 51 subfamily F member 2

Synonyms

MOR14-11, GA_x6K02T2PBJ9-5588278-5589228, MOR14-3, Olfr568

MMRRC Submission

044520-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R6370 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102526329-102527270 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102526377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 17 (T17S)

Ref Sequence

ENSEMBL: ENSMUSP00000095818 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098216]

AlphaFold

E9Q554

Predicted Effect

probably benign
Transcript: ENSMUST00000098216
AA Change: T17S

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095818
Gene: ENSMUSG00000073965
AA Change: T17S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	7.6e-113	PFAM
Pfam:7TM_GPCR_Srsx	34	306	1.8e-7	PFAM
Pfam:7tm_1	40	291	1e-20	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

95% (54/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb6	A	G	2: 30,717,024 (GRCm39)	V67A	probably damaging	Het
Atic	T	A	1: 71,617,819 (GRCm39)	F590I	probably damaging	Het
Atxn10	T	C	15: 85,277,586 (GRCm39)	F351S	probably damaging	Het
Bcl2l13	A	G	6: 120,842,583 (GRCm39)	N92S	probably benign	Het
Carm1	G	T	9: 21,498,815 (GRCm39)	A518S	probably benign	Het
Ccar1	C	T	10: 62,600,308 (GRCm39)	R541H	probably damaging	Het
Cfhr2	A	T	1: 139,750,065 (GRCm39)	L96Q	probably damaging	Het
Chrnb4	A	G	9: 54,942,143 (GRCm39)	L377S	probably benign	Het
Clcn3	A	G	8: 61,376,058 (GRCm39)	Y639H	probably damaging	Het
Cngb1	C	T	8: 95,991,050 (GRCm39)	M717I	probably benign	Het
Ctcf	T	C	8: 106,390,852 (GRCm39)	M153T	probably benign	Het
Cyp2b19	T	C	7: 26,462,783 (GRCm39)	S222P	probably benign	Het
Dixdc1	A	T	9: 50,593,523 (GRCm39)		probably null	Het
Entpd2	G	A	2: 25,287,429 (GRCm39)	G47S	probably damaging	Het
Erbb3	A	G	10: 128,405,943 (GRCm39)	M1158T	possibly damaging	Het
Faah	T	C	4: 115,860,253 (GRCm39)	D333G	probably damaging	Het
Foxred2	T	A	15: 77,827,506 (GRCm39)	T618S	probably benign	Het
Gm2381	G	A	7: 42,470,010 (GRCm39)	A38V	probably benign	Het
Gpx5	A	T	13: 21,472,872 (GRCm39)		probably null	Het
Gtdc1	A	G	2: 44,646,334 (GRCm39)	V98A	probably damaging	Het
Hal	T	C	10: 93,333,368 (GRCm39)	I312T	probably damaging	Het
Krtap21-1	T	C	16: 89,200,519 (GRCm39)	Y41C	unknown	Het
Larp6	A	G	9: 60,644,646 (GRCm39)	E262G	probably damaging	Het
Lrrn1	A	G	6: 107,546,185 (GRCm39)	Y661C	probably damaging	Het
Lsm14a	A	G	7: 34,056,906 (GRCm39)	V244A	probably benign	Het
Mfrp	T	C	9: 44,017,558 (GRCm39)	C517R	probably damaging	Het
Mtarc1	T	C	1: 184,527,689 (GRCm39)	D257G	probably damaging	Het
Ncoa3	T	C	2: 165,907,825 (GRCm39)	S1145P	probably benign	Het
Nosip	G	T	7: 44,726,164 (GRCm39)		probably null	Het
Or4c100	T	A	2: 88,329,712 (GRCm39)	C94*	probably null	Het
Or52n1	T	C	7: 104,383,124 (GRCm39)	K149R	probably benign	Het
Phykpl	T	C	11: 51,477,543 (GRCm39)	S112P	probably damaging	Het
Pik3cb	A	T	9: 98,922,987 (GRCm39)	I1015K	probably damaging	Het
Pomt2	A	G	12: 87,155,973 (GRCm39)	W818R	probably damaging	Het
Ptpn21	A	T	12: 98,655,293 (GRCm39)	M558K	possibly damaging	Het
Rnf213	T	A	11: 119,367,904 (GRCm39)	N4647K	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Homo
Rxrg	T	C	1: 167,462,006 (GRCm39)	V227A	probably damaging	Het
Satb1	A	T	17: 52,089,825 (GRCm39)	S341T	possibly damaging	Het
Skint5	T	G	4: 113,471,307 (GRCm39)	Q983P	unknown	Het
Slc6a18	G	A	13: 73,816,278 (GRCm39)	T367I	probably benign	Het
Slc7a1	A	G	5: 148,277,483 (GRCm39)	L344P	probably damaging	Het
Slc7a6	T	A	8: 106,922,069 (GRCm39)	F399I	probably benign	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Sugt1	T	C	14: 79,847,774 (GRCm39)	V208A	probably benign	Het
Syt3	A	G	7: 44,045,107 (GRCm39)	K480E	probably damaging	Het
Thop1	C	T	10: 80,913,817 (GRCm39)	T186I	probably benign	Het
Trim55	G	A	3: 19,745,650 (GRCm39)	E509K	possibly damaging	Het
Upf2	A	G	2: 5,980,821 (GRCm39)	N469S	unknown	Het
Usp24	G	T	4: 106,237,718 (GRCm39)	K1125N	probably null	Het
Usp5	A	T	6: 124,797,391 (GRCm39)	D494E	probably benign	Het
Vmn2r51	T	C	7: 9,832,143 (GRCm39)	K481R	probably damaging	Het
Vps16	C	A	2: 130,285,304 (GRCm39)	A787D	probably damaging	Het
Washc4	C	T	10: 83,407,226 (GRCm39)	H488Y	possibly damaging	Het
Wdfy4	C	A	14: 32,790,807 (GRCm39)	A2053S	probably benign	Het
Zfp74	A	T	7: 29,631,835 (GRCm39)	D136E	probably damaging	Het

Other mutations in Or51f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01682:Or51f2	APN	7	102,526,440 (GRCm39)	missense	probably benign	0.02
IGL02349:Or51f2	APN	7	102,527,116 (GRCm39)	missense	probably benign	0.06
IGL02421:Or51f2	APN	7	102,526,966 (GRCm39)	missense	probably damaging	1.00
IGL03179:Or51f2	APN	7	102,527,279 (GRCm39)	unclassified	probably benign
FR4737:Or51f2	UTSW	7	102,526,440 (GRCm39)	small insertion	probably benign
R0003:Or51f2	UTSW	7	102,527,068 (GRCm39)	missense	probably benign	0.02
R0126:Or51f2	UTSW	7	102,526,347 (GRCm39)	missense	probably benign	0.25
R1435:Or51f2	UTSW	7	102,526,974 (GRCm39)	missense	probably damaging	1.00
R1585:Or51f2	UTSW	7	102,526,980 (GRCm39)	missense	probably benign	0.00
R1660:Or51f2	UTSW	7	102,526,863 (GRCm39)	missense	probably damaging	1.00
R1678:Or51f2	UTSW	7	102,526,870 (GRCm39)	missense	probably damaging	1.00
R2010:Or51f2	UTSW	7	102,526,892 (GRCm39)	nonsense	probably null
R4706:Or51f2	UTSW	7	102,526,640 (GRCm39)	missense	probably damaging	1.00
R5490:Or51f2	UTSW	7	102,527,100 (GRCm39)	missense	probably damaging	1.00
R5632:Or51f2	UTSW	7	102,527,004 (GRCm39)	missense	probably benign	0.00
R6675:Or51f2	UTSW	7	102,526,480 (GRCm39)	missense	possibly damaging	0.89
R7854:Or51f2	UTSW	7	102,526,992 (GRCm39)	nonsense	probably null
R8682:Or51f2	UTSW	7	102,526,646 (GRCm39)	missense	probably benign	0.02
R9650:Or51f2	UTSW	7	102,526,987 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCAAGAAGAGAAGCCTACATTTC -3'
(R):5'- CGAGCTTCAAACCAGAGGAC -3'

Sequencing Primer
(F):5'- GATTAAGTGCTAGAGAGATGT -3'
(R):5'- TTCAAACCAGAGGACACCAAGGG -3'

Posted On

2018-04-27