Mutagenetix > Incidental Mutation

Incidental Mutation 'R0485:Or8s5'

42240

Institutional Source

Beutler Lab

Gene Symbol

Or8s5

Ensembl Gene

ENSMUSG00000051793

Gene Name

olfactory receptor family 8 subfamily S member 5

Synonyms

Olfr284, MOR160-4, GA_x6K02T2NBG7-5395976-5396893

MMRRC Submission

038684-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R0485 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98237903-98238820 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98238810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 20 (H20R)

Ref Sequence

ENSEMBL: ENSMUSP00000145864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063289] [ENSMUST00000206647]

AlphaFold

A0A0U1RP76

Predicted Effect

probably benign
Transcript: ENSMUST00000063289
AA Change: H4R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000065626
Gene: ENSMUSG00000051793
AA Change: H4R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	304	5.3e-54	PFAM
Pfam:7TM_GPCR_Srsx	33	259	1.3e-5	PFAM
Pfam:7tm_1	39	286	5e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000206647
AA Change: H20R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.4%

Validation Efficiency

100% (95/95)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	A	G	16: 3,725,511 (GRCm39)	V5A	probably damaging	Het
Abi3bp	A	G	16: 56,424,375 (GRCm39)		probably null	Het
Acot11	G	A	4: 106,619,224 (GRCm39)	R184C	probably damaging	Het
Adgre5	A	T	8: 84,458,627 (GRCm39)	I133N	probably damaging	Het
Afap1	A	T	5: 36,108,347 (GRCm39)	Q231L	probably damaging	Het
Alg12	T	C	15: 88,695,630 (GRCm39)	T289A	probably benign	Het
Ank3	T	A	10: 69,718,374 (GRCm39)	S542T	possibly damaging	Het
Ankmy2	G	A	12: 36,232,389 (GRCm39)	R138Q	possibly damaging	Het
Ascc2	C	T	11: 4,622,302 (GRCm39)	A456V	probably benign	Het
Atg4c	G	A	4: 99,112,719 (GRCm39)	V289I	probably benign	Het
Bbs7	A	T	3: 36,657,022 (GRCm39)	Y269N	probably damaging	Het
Bcas3	T	A	11: 85,386,676 (GRCm39)	D370E	probably damaging	Het
Bicc1	T	G	10: 70,761,145 (GRCm39)	E955A	probably damaging	Het
Bok	T	C	1: 93,616,999 (GRCm39)	F115S	probably damaging	Het
Caap1	A	T	4: 94,438,758 (GRCm39)		probably null	Het
Cacna2d3	T	A	14: 29,256,476 (GRCm39)	M95L	possibly damaging	Het
Calcrl	T	A	2: 84,200,435 (GRCm39)	D115V	probably benign	Het
Car7	A	T	8: 105,270,170 (GRCm39)	M57L	probably benign	Het
Casq1	G	T	1: 172,037,957 (GRCm39)		probably benign	Het
Cep290	A	T	10: 100,385,206 (GRCm39)	D1894V	possibly damaging	Het
Clec4a2	T	A	6: 123,100,588 (GRCm39)	N14K	probably damaging	Het
Col16a1	G	T	4: 129,984,290 (GRCm39)		probably benign	Het
Col5a1	T	C	2: 27,880,109 (GRCm39)		probably benign	Het
Col5a2	A	T	1: 45,417,642 (GRCm39)	I1311N	probably damaging	Het
Col5a3	T	C	9: 20,694,004 (GRCm39)	T1050A	probably damaging	Het
Colgalt2	A	T	1: 152,360,622 (GRCm39)	I220F	probably damaging	Het
Cpb1	A	T	3: 20,329,792 (GRCm39)	V8E	unknown	Het
Dchs1	C	T	7: 105,421,934 (GRCm39)	R162H	probably benign	Het
Dhx37	A	G	5: 125,499,295 (GRCm39)	Y638H	probably benign	Het
Dhx40	T	G	11: 86,662,088 (GRCm39)		probably benign	Het
Ehd2	T	A	7: 15,686,001 (GRCm39)	Q357L	probably benign	Het
Ewsr1	T	C	11: 5,020,737 (GRCm39)		probably benign	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Gid8	T	A	2: 180,355,004 (GRCm39)	Y3*	probably null	Het
Gm10212	A	C	19: 11,548,174 (GRCm39)		noncoding transcript	Het
Grin3b	T	A	10: 79,809,890 (GRCm39)	N465K	possibly damaging	Het
H1f3	A	T	13: 23,739,924 (GRCm39)	K221*	probably null	Het
Htr4	A	T	18: 62,561,225 (GRCm39)	N162I	probably damaging	Het
Irag2	T	C	6: 145,110,938 (GRCm39)	C248R	probably damaging	Het
Itga3	T	C	11: 94,952,796 (GRCm39)	D325G	probably benign	Het
Itpr3	T	G	17: 27,330,903 (GRCm39)	V1737G	probably damaging	Het
Kcnab2	C	T	4: 152,479,439 (GRCm39)	V251I	probably benign	Het
Kcnn2	A	T	18: 45,693,215 (GRCm39)	I264L	probably benign	Het
Klhl41	T	C	2: 69,501,600 (GRCm39)	Y354H	probably damaging	Het
Klra6	T	C	6: 130,000,601 (GRCm39)	I68V	probably benign	Het
Letm2	G	T	8: 26,082,574 (GRCm39)	P178Q	probably damaging	Het
Lypd11	C	A	7: 24,422,170 (GRCm39)	C193F	possibly damaging	Het
Mbtps1	A	T	8: 120,249,340 (GRCm39)		probably benign	Het
Mecom	C	T	3: 30,035,121 (GRCm39)		probably benign	Het
Mrps5	T	A	2: 127,433,745 (GRCm39)	S45T	possibly damaging	Het
Msra	T	A	14: 64,678,210 (GRCm39)	I29F	possibly damaging	Het
Mup5	T	C	4: 61,751,229 (GRCm39)		probably null	Het
Myo1a	T	C	10: 127,555,111 (GRCm39)		probably benign	Het
Myrip	C	A	9: 120,270,443 (GRCm39)	N564K	probably benign	Het
Naa20	T	A	2: 145,757,592 (GRCm39)	D148E	probably damaging	Het
Naga	T	G	15: 82,220,956 (GRCm39)		probably benign	Het
Npc1	A	G	18: 12,346,503 (GRCm39)	V231A	probably benign	Het
Nphs1	T	C	7: 30,166,940 (GRCm39)	F716L	probably benign	Het
Parn	G	C	16: 13,472,299 (GRCm39)		probably benign	Het
Polk	A	T	13: 96,620,272 (GRCm39)	C664S	probably benign	Het
Prkar2b	A	G	12: 32,026,034 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,651,604 (GRCm39)	E3747G	probably damaging	Het
Prmt5	A	T	14: 54,748,712 (GRCm39)	M362K	probably damaging	Het
Prob1	T	C	18: 35,786,878 (GRCm39)	T459A	possibly damaging	Het
Rttn	C	T	18: 89,108,543 (GRCm39)		probably benign	Het
Scn1a	T	C	2: 66,104,269 (GRCm39)	M1664V	probably damaging	Het
Sez6	T	A	11: 77,844,639 (GRCm39)	L154H	probably damaging	Het
Sh3tc1	A	G	5: 35,859,356 (GRCm39)		probably benign	Het
Shkbp1	C	T	7: 27,048,006 (GRCm39)	G334D	probably damaging	Het
Slc8a1	A	T	17: 81,955,422 (GRCm39)	F539I	probably damaging	Het
Spata31e5	G	T	1: 28,817,223 (GRCm39)	Q270K	probably damaging	Het
Sptan1	T	C	2: 29,903,860 (GRCm39)		probably benign	Het
Ssc5d	C	T	7: 4,940,470 (GRCm39)	T861M	probably damaging	Het
Tbx5	A	T	5: 120,021,523 (GRCm39)	M510L	probably benign	Het
Tdp1	A	G	12: 99,876,101 (GRCm39)	T351A	probably benign	Het
Tmc8	T	A	11: 117,682,904 (GRCm39)		probably benign	Het
Tmco5	T	A	2: 116,720,588 (GRCm39)	D205E	probably benign	Het
Tmprss2	T	C	16: 97,373,194 (GRCm39)		probably benign	Het
Top6bl	A	T	19: 4,708,442 (GRCm39)	I350N	probably damaging	Het
Tph1	T	A	7: 46,299,448 (GRCm39)	K364N	probably benign	Het
Trim24	T	C	6: 37,934,001 (GRCm39)	L648P	probably damaging	Het
Trmt6	C	A	2: 132,650,950 (GRCm39)		probably benign	Het
Ube2i	A	T	17: 25,488,259 (GRCm39)		probably benign	Het
Vcan	A	C	13: 89,852,779 (GRCm39)	L727R	possibly damaging	Het
Vmn2r28	T	C	7: 5,491,689 (GRCm39)	Y186C	probably damaging	Het
Wars1	C	A	12: 108,841,083 (GRCm39)	D232Y	probably damaging	Het
Xrcc5	T	C	1: 72,378,104 (GRCm39)		probably benign	Het
Zbtb24	T	A	10: 41,340,532 (GRCm39)	S543T	probably damaging	Het
Zfp91	A	G	19: 12,753,353 (GRCm39)		probably benign	Het

Other mutations in Or8s5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Or8s5	APN	15	98,238,054 (GRCm39)	missense	possibly damaging	0.47
IGL02904:Or8s5	APN	15	98,238,729 (GRCm39)	missense	probably null	0.88
PIT4378001:Or8s5	UTSW	15	98,238,153 (GRCm39)	missense	possibly damaging	0.95
R1435:Or8s5	UTSW	15	98,238,209 (GRCm39)	missense	possibly damaging	0.69
R4706:Or8s5	UTSW	15	98,238,659 (GRCm39)	missense	possibly damaging	0.62
R4707:Or8s5	UTSW	15	98,238,659 (GRCm39)	missense	possibly damaging	0.62
R5272:Or8s5	UTSW	15	98,238,246 (GRCm39)	missense	probably benign	0.00
R5314:Or8s5	UTSW	15	98,238,246 (GRCm39)	missense	probably benign	0.00
R5315:Or8s5	UTSW	15	98,238,246 (GRCm39)	missense	probably benign	0.00
R5316:Or8s5	UTSW	15	98,238,246 (GRCm39)	missense	probably benign	0.00
R5317:Or8s5	UTSW	15	98,238,246 (GRCm39)	missense	probably benign	0.00
R5456:Or8s5	UTSW	15	98,238,246 (GRCm39)	missense	probably benign	0.00
R5458:Or8s5	UTSW	15	98,238,246 (GRCm39)	missense	probably benign	0.00
R5548:Or8s5	UTSW	15	98,238,253 (GRCm39)	missense	probably benign	0.21
R5717:Or8s5	UTSW	15	98,238,246 (GRCm39)	missense	probably benign	0.00
R5921:Or8s5	UTSW	15	98,238,310 (GRCm39)	missense	probably benign	0.10
R6519:Or8s5	UTSW	15	98,237,929 (GRCm39)	missense	probably benign	0.00
R6636:Or8s5	UTSW	15	98,238,831 (GRCm39)	missense	probably benign	0.23
R7112:Or8s5	UTSW	15	98,238,421 (GRCm39)	missense	possibly damaging	0.81
R7289:Or8s5	UTSW	15	98,237,943 (GRCm39)	missense	probably damaging	1.00
R7392:Or8s5	UTSW	15	98,238,192 (GRCm39)	missense	probably benign	0.03
R7403:Or8s5	UTSW	15	98,238,000 (GRCm39)	missense	probably damaging	1.00
R7633:Or8s5	UTSW	15	98,237,967 (GRCm39)	missense	probably damaging	1.00
R7724:Or8s5	UTSW	15	98,238,775 (GRCm39)	missense	possibly damaging	0.89
R9451:Or8s5	UTSW	15	98,238,144 (GRCm39)	missense	possibly damaging	0.61
R9707:Or8s5	UTSW	15	98,238,154 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCCAAGCAGCTTTCAACCAAGATG -3'
(R):5'- GTTAATGGTCTTAGTCCCGGCCAG -3'

Sequencing Primer
(F):5'- ACCAAGATGGTTTTCTCCTCAGAG -3'
(R):5'- CCAGGGAGTTCATTTTTAAGTAGC -3'

Posted On

2013-05-23