Mutagenetix > Incidental Mutation

Incidental Mutation 'R0306:Or51s1'

35799

Institutional Source

Beutler Lab

Gene Symbol

Or51s1

Ensembl Gene

ENSMUSG00000043310

Gene Name

olfactory receptor family 51 subfamily S member 1

Synonyms

Olfr571, MOR21-1, GA_x6K02T2PBJ9-5620890-5619922

MMRRC Submission

038517-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

R0306 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102558076-102559044 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102559010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 12 (I12N)

Ref Sequence

ENSEMBL: ENSMUSP00000148964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061738] [ENSMUST00000214160] [ENSMUST00000215773]

AlphaFold

E9Q407

Predicted Effect

probably benign
Transcript: ENSMUST00000061738
AA Change: I12N

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

SMART Domains

Protein: ENSMUSP00000062385
Gene: ENSMUSG00000043310
AA Change: I12N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	39	318	8.9e-91	PFAM
Pfam:7TM_GPCR_Srsx	43	177	3.1e-8	PFAM
Pfam:7tm_1	49	299	1.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214160
AA Change: I12N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000215773
AA Change: I12N

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

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

94% (61/65)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l1	T	C	6: 48,953,020 (GRCm39)	V315A	probably damaging	Het
BC028528	C	T	3: 95,797,132 (GRCm39)		probably benign	Het
Bspry	T	C	4: 62,414,394 (GRCm39)	F329S	probably damaging	Het
Cd209a	A	G	8: 3,795,535 (GRCm39)	Y120H	probably benign	Het
Ces1f	T	C	8: 94,003,172 (GRCm39)		probably benign	Het
Cfap52	T	C	11: 67,844,896 (GRCm39)	N58D	probably benign	Het
Cfap74	G	A	4: 155,549,896 (GRCm39)		probably benign	Het
Chst8	T	C	7: 34,374,723 (GRCm39)	E372G	probably benign	Het
Cplane1	T	C	15: 8,209,373 (GRCm39)	V270A	probably damaging	Het
Ddx49	A	G	8: 70,747,322 (GRCm39)		probably benign	Het
Ddx52	G	T	11: 83,835,474 (GRCm39)	L133F	probably benign	Het
Defb26	T	A	2: 152,349,888 (GRCm39)	I131F	unknown	Het
Dip2c	T	A	13: 9,654,635 (GRCm39)	S719T	probably benign	Het
Dnmt3a	A	G	12: 3,916,096 (GRCm39)	S94G	possibly damaging	Het
Dytn	G	A	1: 63,724,272 (GRCm39)	P3S	possibly damaging	Het
Fmn2	T	C	1: 174,437,050 (GRCm39)		probably benign	Het
Gal3st1	T	A	11: 3,948,546 (GRCm39)	L251Q	probably damaging	Het
Gm19684	A	T	17: 36,438,300 (GRCm39)		probably benign	Het
Il15	T	A	8: 83,061,083 (GRCm39)		probably benign	Het
Jag1	C	T	2: 136,927,855 (GRCm39)	G852D	probably damaging	Het
Kbtbd4	A	G	2: 90,744,530 (GRCm39)		probably benign	Het
Kdm3b	C	A	18: 34,937,070 (GRCm39)	Q451K	probably benign	Het
Lrfn2	A	T	17: 49,403,283 (GRCm39)	I469F	probably damaging	Het
Mep1a	A	T	17: 43,813,534 (GRCm39)		probably benign	Het
Morn5	T	C	2: 35,944,986 (GRCm39)	F70S	probably damaging	Het
Nav2	C	A	7: 49,195,651 (GRCm39)	P1009Q	probably benign	Het
Noc3l	T	C	19: 38,796,094 (GRCm39)	Y334C	probably damaging	Het
Nsun4	A	T	4: 115,910,019 (GRCm39)	Y180*	probably null	Het
Nup210l	T	C	3: 90,114,675 (GRCm39)	I1750T	probably benign	Het
Or5p53	A	T	7: 107,532,907 (GRCm39)	Y60F	probably damaging	Het
Or8u9	T	A	2: 86,002,060 (GRCm39)	I34F	possibly damaging	Het
Parp14	A	G	16: 35,676,944 (GRCm39)	L1008P	probably benign	Het
Paxbp1	A	G	16: 90,819,003 (GRCm39)	V759A	possibly damaging	Het
Prdm10	C	A	9: 31,227,520 (GRCm39)	Q42K	probably damaging	Het
Prkcsh	T	C	9: 21,917,822 (GRCm39)		probably benign	Het
Psmg1	A	G	16: 95,788,540 (GRCm39)	C138R	probably damaging	Het
Ptprb	T	C	10: 116,179,893 (GRCm39)	M1437T	probably benign	Het
Ryr3	A	G	2: 112,606,000 (GRCm39)		probably null	Het
Serpinf1	T	C	11: 75,304,761 (GRCm39)	Y200C	probably damaging	Het
Shox2	T	C	3: 66,881,167 (GRCm39)	H130R	probably damaging	Het
Slc22a1	A	G	17: 12,881,485 (GRCm39)	F335L	probably benign	Het
Slc44a5	A	G	3: 153,975,638 (GRCm39)	N683S	probably damaging	Het
Slc9a9	A	T	9: 95,019,987 (GRCm39)	T519S	probably benign	Het
Smarca2	T	A	19: 26,618,013 (GRCm39)	L348Q	probably damaging	Het
Sorbs1	T	C	19: 40,332,855 (GRCm39)	D521G	possibly damaging	Het
Sorbs2	A	T	8: 46,248,767 (GRCm39)	T593S	probably benign	Het
Srp19	T	C	18: 34,467,629 (GRCm39)		probably benign	Het
Stk35	T	A	2: 129,643,683 (GRCm39)	Y222*	probably null	Het
Syt10	T	G	15: 89,711,191 (GRCm39)	K114T	probably benign	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Trpc4ap	A	G	2: 155,478,180 (GRCm39)	V662A	probably benign	Het
Ttll4	G	A	1: 74,735,916 (GRCm39)	R1066Q	probably benign	Het
Tulp2	C	T	7: 45,168,000 (GRCm39)		probably benign	Het
Unc5b	C	A	10: 60,615,437 (GRCm39)		probably benign	Het
Vmn1r230	T	A	17: 21,066,895 (GRCm39)	I28K	possibly damaging	Het
Vmn2r118	A	C	17: 55,915,616 (GRCm39)	F445V	possibly damaging	Het
Zfp142	C	T	1: 74,609,341 (GRCm39)	E1485K	probably damaging	Het
Zfp819	C	A	7: 43,266,621 (GRCm39)	A292E	possibly damaging	Het

Other mutations in Or51s1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Or51s1	APN	7	102,558,479 (GRCm39)	missense	probably damaging	1.00
IGL01457:Or51s1	APN	7	102,558,926 (GRCm39)	missense	possibly damaging	0.74
IGL01962:Or51s1	APN	7	102,559,054 (GRCm39)	utr 5 prime	probably benign
IGL02110:Or51s1	APN	7	102,558,402 (GRCm39)	missense	probably benign	0.13
R0790:Or51s1	UTSW	7	102,558,843 (GRCm39)	missense	probably benign	0.02
R3791:Or51s1	UTSW	7	102,558,239 (GRCm39)	missense	probably benign	0.14
R6461:Or51s1	UTSW	7	102,558,235 (GRCm39)	missense	possibly damaging	0.62
R6793:Or51s1	UTSW	7	102,558,935 (GRCm39)	missense	probably benign	0.00
R8327:Or51s1	UTSW	7	102,558,926 (GRCm39)	missense	probably damaging	0.98
R8860:Or51s1	UTSW	7	102,558,336 (GRCm39)	missense	probably benign	0.19
R9532:Or51s1	UTSW	7	102,558,746 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGTGAGCATCAGCAAAGGCCAG -3'
(R):5'- GTGAATGAGTCTGTGCCTAAAGGGG -3'

Sequencing Primer
(F):5'- CCTAGCAGGGTGGGCATTAAC -3'
(R):5'- TCTGTGCCTAAAGGGGAGAGG -3'

Posted On

2013-05-09