Mutagenetix > Incidental Mutation

Incidental Mutation 'R5639:Or51f23'

440544

Institutional Source

Beutler Lab

Gene Symbol

Or51f23

Ensembl Gene

ENSMUSG00000048469

Gene Name

olfactory receptor family 51 subfamily F member 23

Synonyms

GA_x6K02T2PBJ9-5513635-5514627, MOR14-10, Olfr564

MMRRC Submission

043288-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R5639 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102452687-102453637 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102453200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 172 (S172G)

Ref Sequence

ENSEMBL: ENSMUSP00000129376 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061096]

AlphaFold

E9PWA8

Predicted Effect

probably benign
Transcript: ENSMUST00000061096
AA Change: S172G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129376
Gene: ENSMUSG00000048469
AA Change: S172G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	3.6e-117	PFAM
Pfam:7TM_GPCR_Srsx	38	256	4.7e-8	PFAM
Pfam:7tm_1	43	294	2.5e-20	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.7%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	C	8: 111,769,866 (GRCm39)	Y322H	probably benign	Het
Aldh1a1	C	A	19: 20,600,786 (GRCm39)	T201K	probably damaging	Het
Ankrd26	T	C	6: 118,516,685 (GRCm39)	E493G	possibly damaging	Het
Armc8	A	G	9: 99,378,202 (GRCm39)		probably null	Het
Bicc1	A	T	10: 70,776,350 (GRCm39)	V701E	probably damaging	Het
Car11	T	A	7: 45,352,045 (GRCm39)		probably null	Het
Ccn1	A	C	3: 145,354,452 (GRCm39)	V153G	probably damaging	Het
Celsr1	C	G	15: 85,914,968 (GRCm39)	V1002L	probably damaging	Het
Clpx	T	A	9: 65,237,112 (GRCm39)	S597T	probably benign	Het
Cplx3	A	T	9: 57,519,149 (GRCm39)	F266I	probably benign	Het
Dmpk	A	G	7: 18,826,525 (GRCm39)	M545V	probably benign	Het
Dnah7c	C	G	1: 46,778,828 (GRCm39)	D3139E	probably benign	Het
Drd5	T	A	5: 38,477,178 (GRCm39)	V57D	possibly damaging	Het
Epc2	A	G	2: 49,341,903 (GRCm39)	N29S	possibly damaging	Het
Ercc3	T	C	18: 32,398,767 (GRCm39)	V682A	probably damaging	Het
Fam186a	T	C	15: 99,844,931 (GRCm39)	K438E	unknown	Het
Farp1	T	A	14: 121,512,794 (GRCm39)	I764N	probably damaging	Het
Flvcr2	A	T	12: 85,794,250 (GRCm39)	I209F	probably benign	Het
Fndc3b	C	T	3: 27,480,302 (GRCm39)	V1065M	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gp6	C	A	7: 4,397,130 (GRCm39)	D102Y	probably damaging	Het
Gpc5	T	C	14: 115,330,179 (GRCm39)	L114P	probably benign	Het
Kcnq3	T	A	15: 65,869,599 (GRCm39)	E613V	probably damaging	Het
Krt74	T	G	15: 101,665,195 (GRCm39)		noncoding transcript	Het
Lipe	T	C	7: 25,082,750 (GRCm39)	T801A	probably benign	Het
Lrp1	A	G	10: 127,429,708 (GRCm39)	V454A	probably damaging	Het
Lsm14a	T	C	7: 34,052,935 (GRCm39)	D338G	probably damaging	Het
Mctp1	T	C	13: 77,172,902 (GRCm39)		silent	Het
Nlrp4a	G	A	7: 26,156,455 (GRCm39)	A727T	probably benign	Het
Nrgn	T	C	9: 37,457,344 (GRCm39)	S48G	probably benign	Het
Oga	A	G	19: 45,765,438 (GRCm39)	I123T	probably damaging	Het
Or10k2	T	C	8: 84,267,973 (GRCm39)	S67P	probably damaging	Het
Or4a73	T	C	2: 89,421,069 (GRCm39)	Y130C	probably damaging	Het
Pdia6	A	G	12: 17,328,594 (GRCm39)	E183G	probably benign	Het
Pign	T	A	1: 105,517,040 (GRCm39)	I529F	probably benign	Het
Plscr5	A	T	9: 92,087,564 (GRCm39)	K178*	probably null	Het
Samm50	T	G	15: 84,098,329 (GRCm39)	I456S	probably benign	Het
Sesn1	A	G	10: 41,687,267 (GRCm39)	R84G	probably benign	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Spag17	G	T	3: 99,963,482 (GRCm39)	D1067Y	probably damaging	Het
Sptan1	C	T	2: 29,881,005 (GRCm39)	Q425*	probably null	Het
Srrm4	T	A	5: 116,729,418 (GRCm39)	I36F	unknown	Het
Tas1r2	A	T	4: 139,387,107 (GRCm39)	S189C	probably damaging	Het
Tep1	A	G	14: 51,091,062 (GRCm39)	V690A	possibly damaging	Het
Trmo	T	C	4: 46,382,073 (GRCm39)	K348R	probably benign	Het
Trmu	T	A	15: 85,766,899 (GRCm39)	M36K	probably damaging	Het
Ubr4	A	G	4: 139,179,959 (GRCm39)	T3380A	possibly damaging	Het
Unc79	A	C	12: 103,137,831 (GRCm39)	T2425P	probably damaging	Het
Vmn2r12	G	A	5: 109,240,666 (GRCm39)	T149I	probably benign	Het
Vwa3a	A	C	7: 120,389,366 (GRCm39)	K68T	probably damaging	Het
Yif1a	T	C	19: 5,138,778 (GRCm39)		probably null	Het
Zbtb44	A	T	9: 30,965,348 (GRCm39)	T253S	probably damaging	Het
Zdhhc3	T	C	9: 122,929,410 (GRCm39)	Y75C	probably damaging	Het
Zfp189	T	A	4: 49,530,153 (GRCm39)	F419I	probably benign	Het
Zfp663	T	C	2: 165,194,929 (GRCm39)	D430G	probably benign	Het
Zfp709	T	G	8: 72,643,835 (GRCm39)		probably null	Het

Other mutations in Or51f23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01392:Or51f23	APN	7	102,453,061 (GRCm39)	nonsense	probably null
IGL03248:Or51f23	APN	7	102,452,846 (GRCm39)	nonsense	probably null
R1108:Or51f23	UTSW	7	102,453,057 (GRCm39)	missense	probably benign	0.08
R1395:Or51f23	UTSW	7	102,453,414 (GRCm39)	missense	possibly damaging	0.90
R1422:Or51f23	UTSW	7	102,453,057 (GRCm39)	missense	probably benign	0.08
R4032:Or51f23	UTSW	7	102,453,396 (GRCm39)	missense	probably benign	0.00
R5168:Or51f23	UTSW	7	102,453,528 (GRCm39)	missense	probably benign
R5269:Or51f23	UTSW	7	102,453,327 (GRCm39)	missense	probably benign
R5930:Or51f23	UTSW	7	102,453,481 (GRCm39)	missense	probably damaging	1.00
R6019:Or51f23	UTSW	7	102,453,491 (GRCm39)	nonsense	probably null
R7206:Or51f23	UTSW	7	102,452,891 (GRCm39)	missense	probably damaging	1.00
R7254:Or51f23	UTSW	7	102,452,765 (GRCm39)	missense	probably benign
R7845:Or51f23	UTSW	7	102,453,492 (GRCm39)	missense	not run
R8036:Or51f23	UTSW	7	102,452,763 (GRCm39)	missense	possibly damaging	0.87
R8730:Or51f23	UTSW	7	102,453,348 (GRCm39)	missense	probably benign	0.00
R9156:Or51f23	UTSW	7	102,453,339 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTCATGGAATCCTCAGTGC -3'
(R):5'- ACACGTGCTGAAGGCTTTC -3'

Sequencing Primer
(F):5'- AATCCTCAGTGCTGTTGGC -3'
(R):5'- CCTCTCTTCTGGGGAAGCAATG -3'

Posted On

2016-11-08