Mutagenetix > Incidental Mutation

Incidental Mutation 'R1395:Or51f23'

162805

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

039457-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R1395 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102452687-102453637 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102453414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 243 (C243Y)

Ref Sequence

ENSEMBL: ENSMUSP00000129376 (fasta)

Gene Model

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

AlphaFold

E9PWA8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061096
AA Change: C243Y

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129376
Gene: ENSMUSG00000048469
AA Change: C243Y

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (70/71)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,249,362 (GRCm39)	Y122H	probably damaging	Het
A330070K13Rik	A	G	5: 130,407,982 (GRCm39)		probably benign	Het
Abcc2	A	G	19: 43,822,379 (GRCm39)	R1406G	probably benign	Het
Adgrv1	G	T	13: 81,534,907 (GRCm39)	T5786K	probably benign	Het
Ankrd27	T	C	7: 35,315,294 (GRCm39)	F481S	possibly damaging	Het
Arhgap11a	C	T	2: 113,663,467 (GRCm39)	V939I	probably benign	Het
Arhgap12	T	C	18: 6,037,058 (GRCm39)	N561S	probably benign	Het
Arhgef12	T	C	9: 42,917,166 (GRCm39)	H391R	probably damaging	Het
Asb3	T	C	11: 31,051,032 (GRCm39)		probably benign	Het
C2cd5	T	C	6: 143,007,464 (GRCm39)		probably benign	Het
Ccdc85a	T	C	11: 28,533,412 (GRCm39)	K44R	possibly damaging	Het
Cep128	C	T	12: 91,233,754 (GRCm39)	R438Q	probably benign	Het
Cep192	A	G	18: 67,991,992 (GRCm39)	T1957A	probably damaging	Het
Col20a1	T	A	2: 180,640,400 (GRCm39)	V519E	probably damaging	Het
Cylc2	A	G	4: 51,228,366 (GRCm39)	K146E	possibly damaging	Het
Drgx	C	T	14: 32,330,326 (GRCm39)	P148S	probably benign	Het
Dst	T	C	1: 34,204,236 (GRCm39)		probably null	Het
Eef1a1	C	T	9: 78,386,300 (GRCm39)	V402I	probably benign	Het
Esyt3	T	C	9: 99,198,835 (GRCm39)		probably benign	Het
Extl3	A	G	14: 65,314,945 (GRCm39)	V79A	possibly damaging	Het
Fat3	C	T	9: 16,158,212 (GRCm39)	V1133I	probably benign	Het
Fcgbp	A	G	7: 27,792,804 (GRCm39)	H936R	probably damaging	Het
Fdxacb1	TAGAC	T	9: 50,683,796 (GRCm39)		probably null	Het
Fryl	T	C	5: 73,230,255 (GRCm39)	H1634R	probably damaging	Het
Gm44511	G	A	6: 128,797,293 (GRCm39)	S32L	possibly damaging	Het
Gm8374	G	T	14: 18,537,058 (GRCm39)	N55K	probably benign	Het
Gria1	T	A	11: 57,174,392 (GRCm39)	I558N	probably damaging	Het
Gse1	G	T	8: 121,301,738 (GRCm39)		probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hectd4	T	C	5: 121,466,576 (GRCm39)		probably null	Het
Herc1	T	C	9: 66,346,463 (GRCm39)	I1943T	probably benign	Het
Ift172	T	C	5: 31,442,582 (GRCm39)		probably benign	Het
Ift81	G	T	5: 122,706,986 (GRCm39)	D485E	probably benign	Het
Lactb	T	C	9: 66,878,661 (GRCm39)		probably benign	Het
Map1a	C	T	2: 121,134,406 (GRCm39)	H1741Y	probably benign	Het
Map1lc3b	T	C	8: 122,323,459 (GRCm39)	Y110H	probably benign	Het
Mlh1	T	C	9: 111,076,445 (GRCm39)	D304G	probably damaging	Het
Myo1f	A	G	17: 33,802,714 (GRCm39)	D386G	probably damaging	Het
Ncoa4	T	A	14: 31,894,798 (GRCm39)		probably null	Het
Neto1	T	C	18: 86,416,144 (GRCm39)		probably benign	Het
Nf1	T	C	11: 79,426,809 (GRCm39)	V1741A	possibly damaging	Het
Nkain2	C	A	10: 32,766,185 (GRCm39)		probably benign	Het
Obsl1	T	C	1: 75,469,309 (GRCm39)	S109G	probably damaging	Het
Or51ah3	T	C	7: 103,210,326 (GRCm39)	L214P	possibly damaging	Het
Or6z6	T	A	7: 6,491,361 (GRCm39)	T171S	probably damaging	Het
Or9s13	T	A	1: 92,548,267 (GRCm39)	I213N	probably benign	Het
Phlpp1	T	C	1: 106,278,348 (GRCm39)	V920A	possibly damaging	Het
Psen1	G	A	12: 83,771,346 (GRCm39)	G209R	probably damaging	Het
Ralgapa2	T	G	2: 146,230,420 (GRCm39)	K963N	probably damaging	Het
Rdh12	A	G	12: 79,255,839 (GRCm39)	T9A	probably benign	Het
Rgma	G	T	7: 73,067,542 (GRCm39)	A360S	probably benign	Het
Sag	G	A	1: 87,756,163 (GRCm39)	V257I	probably benign	Het
Scaf1	T	C	7: 44,657,721 (GRCm39)	E386G	probably damaging	Het
Slc4a10	A	G	2: 62,143,630 (GRCm39)	E1055G	probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Spata31e5	T	C	1: 28,815,890 (GRCm39)	E714G	possibly damaging	Het
Spata46	A	G	1: 170,139,573 (GRCm39)	T191A	probably benign	Het
Tgm2	T	A	2: 157,966,172 (GRCm39)	H494L	probably benign	Het
Tub	C	T	7: 108,620,161 (GRCm39)	R102*	probably null	Het
Ugt3a1	T	G	15: 9,306,378 (GRCm39)	L176V	possibly damaging	Het
Vmn2r15	T	A	5: 109,442,014 (GRCm39)	I140L	probably benign	Het
Wdr44	T	G	X: 23,662,298 (GRCm39)	C645G	probably damaging	Het
Wdr87-ps	T	A	7: 29,230,812 (GRCm39)		noncoding transcript	Het
Zfp322a	C	T	13: 23,540,945 (GRCm39)	V266I	probably benign	Het
Zfp663	T	C	2: 165,194,492 (GRCm39)	R576G	probably damaging	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
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
R5639:Or51f23	UTSW	7	102,453,200 (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'- AGCAGCCATGTGCTTCATCACTC -3'
(R):5'- AACACAGCCTTCCGTATCTTCTTGG -3'

Sequencing Primer
(F):5'- ATGTGCTTCATCACTCCTACTG -3'
(R):5'- CTTGGTCTTCACACTGTAGATGATG -3'

Posted On

2014-03-17