Mutagenetix > Incidental Mutation

Incidental Mutation 'R5632:Or51f2'

439919

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

043283-MU

Accession Numbers

Essential gene?

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

Stock #

R5632 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102526329-102527270 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 102527004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 226 (S226R)

Ref Sequence

ENSEMBL: ENSMUSP00000095818 (fasta)

Gene Model

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

AlphaFold

E9Q554

Predicted Effect

probably benign
Transcript: ENSMUST00000098216
AA Change: S226R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095818
Gene: ENSMUSG00000073965
AA Change: S226R

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	T	C	12: 84,664,076 (GRCm39)	T7A	probably benign	Het
Adam33	T	G	2: 130,895,362 (GRCm39)	D619A	probably damaging	Het
Ajm1	T	C	2: 25,469,276 (GRCm39)	T212A	probably benign	Het
Aldh3b3	C	T	19: 4,018,522 (GRCm39)		probably benign	Het
Arhgef15	G	A	11: 68,844,877 (GRCm39)	P240L	probably benign	Het
Arhgef40	C	A	14: 52,231,795 (GRCm39)	T727K	probably damaging	Het
Arrdc1	T	C	2: 24,817,840 (GRCm39)	T43A	probably benign	Het
Bcl2l15	A	G	3: 103,743,378 (GRCm39)	N93S	probably benign	Het
Cd5l	G	T	3: 87,273,414 (GRCm39)	E128*	probably null	Het
Cep97	T	C	16: 55,735,946 (GRCm39)	D284G	probably benign	Het
Ckmt1	T	A	2: 121,191,073 (GRCm39)	S162T	probably damaging	Het
Clock	G	A	5: 76,378,185 (GRCm39)	P572S	probably benign	Het
Cpeb4	A	G	11: 31,839,877 (GRCm39)	D53G	probably damaging	Het
Crocc2	T	A	1: 93,145,575 (GRCm39)	S1485R	probably damaging	Het
Dcaf5	G	A	12: 80,444,526 (GRCm39)	A189V	probably damaging	Het
Duox2	C	T	2: 122,111,936 (GRCm39)	G1355S	probably damaging	Het
Fam120b	C	T	17: 15,623,344 (GRCm39)	P441S	probably benign	Het
Fbxo41	A	G	6: 85,461,486 (GRCm39)	L74P	probably damaging	Het
H2-DMa	A	G	17: 34,356,975 (GRCm39)	T158A	probably benign	Het
Hcar2	T	A	5: 124,002,532 (GRCm39)	T324S	probably benign	Het
Hif3a	T	C	7: 16,784,580 (GRCm39)	I222V	possibly damaging	Het
Ighv1-7	A	G	12: 114,502,501 (GRCm39)		probably benign	Het
Il20	T	C	1: 130,835,165 (GRCm39)	E151G	probably benign	Het
Jarid2	A	G	13: 45,049,766 (GRCm39)	E236G	probably damaging	Het
Knl1	T	C	2: 118,900,833 (GRCm39)	S845P	probably damaging	Het
Lamc2	T	C	1: 153,007,636 (GRCm39)	Y846C	probably damaging	Het
Lrp5	A	G	19: 3,672,512 (GRCm39)	V599A	probably benign	Het
Lrrc8b	T	A	5: 105,628,163 (GRCm39)	S170T	possibly damaging	Het
Mex3d	T	C	10: 80,218,428 (GRCm39)	K263R	probably damaging	Het
Mtor	A	G	4: 148,553,463 (GRCm39)	K784E	possibly damaging	Het
Naip5	C	A	13: 100,367,170 (GRCm39)		probably null	Het
Ncor1	T	C	11: 62,229,060 (GRCm39)	T609A	possibly damaging	Het
Ndufs1	C	T	1: 63,189,218 (GRCm39)	A536T	probably benign	Het
Neto1	A	G	18: 86,516,768 (GRCm39)	I362V	probably benign	Het
Nfatc3	T	C	8: 106,805,689 (GRCm39)	L178P	probably damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Nsd3	C	T	8: 26,169,985 (GRCm39)	T707M	probably benign	Het
Or5w1b	A	T	2: 87,475,573 (GRCm39)	V298E	probably damaging	Het
Or9g19	T	C	2: 85,600,613 (GRCm39)	V156A	probably benign	Het
Pcnx1	T	A	12: 81,964,504 (GRCm39)	S224T	probably damaging	Het
Peak1	T	C	9: 56,165,058 (GRCm39)	T957A	probably damaging	Het
Pex7	A	T	10: 19,764,483 (GRCm39)	D153E	probably damaging	Het
Plscr1	A	G	9: 92,148,477 (GRCm39)	E139G	probably damaging	Het
Psmb8	T	C	17: 34,420,214 (GRCm39)	Y269H	probably benign	Het
Rmc1	T	C	18: 12,304,640 (GRCm39)	F72L	possibly damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Sft2d2	T	C	1: 165,012,657 (GRCm39)	T80A	probably damaging	Het
Slc12a5	A	G	2: 164,829,141 (GRCm39)	I583M	possibly damaging	Het
Slc23a4	T	C	6: 34,933,957 (GRCm39)	M49V	probably benign	Het
Smarcb1	G	A	10: 75,740,252 (GRCm39)	Q309*	probably null	Het
Sphkap	A	T	1: 83,256,006 (GRCm39)	V294E	probably benign	Het
Stoml1	C	A	9: 58,160,653 (GRCm39)	P35Q	probably damaging	Het
Timm10b	G	C	7: 105,290,329 (GRCm39)	R42P	probably damaging	Het
Tnfrsf8	A	T	4: 145,019,203 (GRCm39)	S211T	possibly damaging	Het
Ttn	T	C	2: 76,536,164 (GRCm39)	T26738A	probably damaging	Het
Vps13d	A	T	4: 144,801,452 (GRCm39)	Y474N	probably damaging	Het
Wdr81	A	T	11: 75,336,732 (GRCm39)	F1552L	probably damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Wnt7a	A	C	6: 91,371,637 (GRCm39)	Y108*	probably null	Het
Zfp512b	C	T	2: 181,227,461 (GRCm39)	R56K	probably benign	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
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'- CCGTCATGTTGCCAGTTGTG -3'
(R):5'- TGTAGATTATAGGGTTGAGCACAGG -3'

Sequencing Primer
(F):5'- CAAGAGGTTGTCCTTCTGCAG -3'
(R):5'- TTGAGCACAGGAGGGATGAGC -3'

Posted On

2016-11-08