Mutagenetix > Incidental Mutation

Incidental Mutation 'R1435:Or51f2'

159453

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

039490-MU

Accession Numbers

Essential gene?

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

Stock #

R1435 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102526329-102527270 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102526974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 216 (S216P)

Ref Sequence

ENSEMBL: ENSMUSP00000095818 (fasta)

Gene Model

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

AlphaFold

E9Q554

Predicted Effect

probably damaging
Transcript: ENSMUST00000098216
AA Change: S216P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095818
Gene: ENSMUSG00000073965
AA Change: S216P

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

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.0%
20x: 81.3%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	T	G	11: 69,905,642 (GRCm39)	T62P	probably benign	Het
Amz1	A	T	5: 140,733,921 (GRCm39)	N166Y	probably damaging	Het
Anxa6	T	C	11: 54,882,236 (GRCm39)	Q518R	probably benign	Het
Aox3	G	A	1: 58,202,605 (GRCm39)		probably null	Het
Arid1a	C	T	4: 133,408,009 (GRCm39)	R2166Q	unknown	Het
Asb4	T	G	6: 5,398,410 (GRCm39)	I125S	probably benign	Het
Aspscr1	T	C	11: 120,580,048 (GRCm39)	S196P	probably benign	Het
Atxn3	A	G	12: 101,908,460 (GRCm39)	F131L	probably benign	Het
B3gnt5	T	A	16: 19,587,924 (GRCm39)	Y48N	probably damaging	Het
Bglap3	A	G	3: 88,276,453 (GRCm39)	M35T	possibly damaging	Het
Cabp1	A	T	5: 115,311,267 (GRCm39)	D79E	probably damaging	Het
Cemip2	A	T	19: 21,822,070 (GRCm39)	Q1155L	probably benign	Het
Chd2	C	T	7: 73,102,884 (GRCm39)	R1367Q	probably damaging	Het
Clec5a	T	A	6: 40,561,358 (GRCm39)	Q29L	probably damaging	Het
Cmtr2	T	C	8: 110,947,711 (GRCm39)	L7P	probably benign	Het
Cnbd1	T	C	4: 18,907,026 (GRCm39)	I183V	probably benign	Het
Col7a1	G	A	9: 108,792,341 (GRCm39)	G1297D	unknown	Het
Csnk1g3	G	A	18: 54,039,746 (GRCm39)		probably null	Het
Cyp4a32	A	T	4: 115,463,863 (GRCm39)	N134I	probably damaging	Het
Cyp4f16	CTATG	CTATGTATG	17: 32,769,708 (GRCm39)		probably null	Het
Dst	G	A	1: 34,153,026 (GRCm39)	V56M	probably damaging	Het
Engase	A	T	11: 118,375,727 (GRCm39)	T32S	probably damaging	Het
Fam117b	T	C	1: 60,008,222 (GRCm39)	I352T	possibly damaging	Het
Golga4	C	A	9: 118,364,508 (GRCm39)	D290E	probably benign	Het
Gtf2a1l	C	A	17: 89,001,743 (GRCm39)	H153N	probably damaging	Het
Hivep1	C	A	13: 42,311,519 (GRCm39)	T1253N	probably damaging	Het
Hps1	T	C	19: 42,750,714 (GRCm39)	S398G	probably benign	Het
Il1r2	T	A	1: 40,144,459 (GRCm39)	F49I	probably damaging	Het
Iqsec1	A	G	6: 90,649,006 (GRCm39)	S808P	probably damaging	Het
Lrrk1	A	G	7: 65,922,776 (GRCm39)	L289P	probably damaging	Het
Magi2	T	A	5: 20,563,943 (GRCm39)	D358E	probably damaging	Het
Man2b2	A	G	5: 36,970,411 (GRCm39)	W832R	probably damaging	Het
Mfsd4a	G	T	1: 131,995,494 (GRCm39)	T46K	probably damaging	Het
N4bp3	G	A	11: 51,535,167 (GRCm39)	R341W	probably damaging	Het
Odad2	T	A	18: 7,222,646 (GRCm39)	H541L	probably benign	Het
Or8s5	A	T	15: 98,238,209 (GRCm39)	H220Q	possibly damaging	Het
Otof	A	G	5: 30,536,039 (GRCm39)	L1353S	probably benign	Het
Pcsk5	A	T	19: 17,541,246 (GRCm39)	C844*	probably null	Het
Pdk2	T	C	11: 94,922,721 (GRCm39)	Y153C	probably damaging	Het
Pes1	T	C	11: 3,926,075 (GRCm39)	V292A	probably benign	Het
Pex14	T	C	4: 149,047,984 (GRCm39)	T198A	probably benign	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Pnpla2	G	A	7: 141,037,324 (GRCm39)	R109H	probably benign	Het
Polh	G	A	17: 46,505,181 (GRCm39)	T145I	probably damaging	Het
Polr3d	A	T	14: 70,677,479 (GRCm39)	V299E	probably benign	Het
Polr3e	C	T	7: 120,540,011 (GRCm39)	T586M	probably benign	Het
Rbm20	T	A	19: 53,802,588 (GRCm39)	F365L	probably benign	Het
Resf1	A	G	6: 149,227,580 (GRCm39)	T209A	probably benign	Het
Rnf213	G	T	11: 119,326,831 (GRCm39)	C1606F	probably damaging	Het
Sipa1l2	A	G	8: 126,195,464 (GRCm39)	V758A	probably damaging	Het
Slc22a16	T	A	10: 40,463,603 (GRCm39)	M451K	probably damaging	Het
Slc28a1	T	C	7: 80,803,265 (GRCm39)	S359P	probably damaging	Het
Slc45a1	G	T	4: 150,728,505 (GRCm39)	F99L	probably damaging	Het
Sp3	A	T	2: 72,768,500 (GRCm39)	N754K	possibly damaging	Het
Taf4b	A	T	18: 14,940,466 (GRCm39)	Q315L	probably damaging	Het
Tcstv2a	T	A	13: 120,725,524 (GRCm39)	W63R	probably damaging	Het
Tmprss15	A	T	16: 78,818,342 (GRCm39)	N544K	probably benign	Het
Tnfsf13b	A	G	8: 10,085,358 (GRCm39)	I283V	probably benign	Het
Tnfsf14	T	A	17: 57,497,605 (GRCm39)	E209V	possibly damaging	Het
Uckl1	T	G	2: 181,214,926 (GRCm39)	S283R	probably benign	Het
Ush1g	T	C	11: 115,209,294 (GRCm39)	D300G	probably damaging	Het
Virma	C	T	4: 11,528,621 (GRCm39)	A1286V	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r59	A	T	7: 41,695,629 (GRCm39)	M261K	possibly damaging	Het
Vwf	A	T	6: 125,619,212 (GRCm39)	K1297*	probably null	Het
Zdbf2	G	A	1: 63,342,199 (GRCm39)	E193K	possibly damaging	Het
Zfp759	T	G	13: 67,286,830 (GRCm39)	I127S	possibly 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
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
R6370:Or51f2	UTSW	7	102,526,377 (GRCm39)	missense	probably benign	0.43
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'- CGTCATGTTGCCAGTTGTGCTC -3'
(R):5'- AGAATAGCCTTTCGAATCTGCTTCGTC -3'

Sequencing Primer
(F):5'- CCAGTTGTGCTCTTTGTCAAG -3'
(R):5'- CACTGTAGATTATAGGGTTGAGCAC -3'

Posted On

2014-03-14