Mutagenetix > Incidental Mutation

Incidental Mutation 'R5014:Or8s8'

385451

Institutional Source

Beutler Lab

Gene Symbol

Or8s8

Ensembl Gene

ENSMUSG00000032987

Gene Name

olfactory receptor family 8 subfamily S member 8

Synonyms

GA_x6K02T2NBG7-5275017-5274082, Olfr281, MOR160-5

MMRRC Submission

042605-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R5014 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98354193-98355128 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98354857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 222 (V222A)

Ref Sequence

ENSEMBL: ENSMUSP00000150530 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109163] [ENSMUST00000217517]

AlphaFold

Q8VET6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109163
AA Change: V222A

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104791
Gene: ENSMUSG00000032987
AA Change: V222A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	3.8e-54	PFAM
Pfam:7TM_GPCR_Srsx	35	277	2.2e-5	PFAM
Pfam:7tm_1	41	288	2.4e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217517
AA Change: V222A

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.4%
20x: 91.7%

Validation Efficiency

97% (83/86)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,520,896 (GRCm39)	T1353A	probably benign	Het
Abca8b	A	T	11: 109,840,957 (GRCm39)	I1072N	probably damaging	Het
Atp1a2	T	C	1: 172,112,438 (GRCm39)	T517A	probably benign	Het
Blk	T	G	14: 63,617,236 (GRCm39)	N257T	probably benign	Het
Brd4	A	T	17: 32,417,372 (GRCm39)		probably benign	Het
Calr4	C	T	4: 109,092,994 (GRCm39)	Q25*	probably null	Het
Cbl	T	C	9: 44,065,696 (GRCm39)		probably null	Het
Ccdc30	T	G	4: 119,250,824 (GRCm39)	H6P	possibly damaging	Het
Cd101	A	C	3: 100,911,139 (GRCm39)	Y840D	probably damaging	Het
Cd68	T	A	11: 69,556,165 (GRCm39)	N178Y	probably damaging	Het
Cep350	T	C	1: 155,803,952 (GRCm39)	T1044A	probably benign	Het
Cfap46	A	G	7: 139,207,291 (GRCm39)	V1876A	probably benign	Het
Clec2g	T	A	6: 128,925,765 (GRCm39)	M58K	probably benign	Het
Clip1	T	C	5: 123,755,793 (GRCm39)	E860G	probably damaging	Het
Col18a1	C	T	10: 76,906,794 (GRCm39)		probably null	Het
Cul7	A	G	17: 46,966,868 (GRCm39)	*650W	probably null	Het
Dkk4	C	T	8: 23,115,315 (GRCm39)	A55V	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dnai7	T	C	6: 145,128,992 (GRCm39)	E407G	probably damaging	Het
Dnase1	C	A	16: 3,856,880 (GRCm39)	Y170*	probably null	Het
Dnmt1	A	C	9: 20,823,550 (GRCm39)	I1019S	probably benign	Het
Epha6	T	A	16: 59,486,942 (GRCm39)	H1035L	probably benign	Het
Fam124b	T	C	1: 80,177,776 (GRCm39)	T408A	probably benign	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Galnt7	T	C	8: 57,998,414 (GRCm39)	E305G	probably damaging	Het
Garin1b	C	T	6: 29,326,723 (GRCm39)		probably benign	Het
Git1	T	A	11: 77,389,821 (GRCm39)	V28E	probably damaging	Het
Gm10010	C	T	6: 128,177,556 (GRCm39)		noncoding transcript	Het
Gm4956	T	C	1: 21,363,821 (GRCm39)		noncoding transcript	Het
Gpr152	T	G	19: 4,193,506 (GRCm39)	V349G	probably benign	Het
Gtsf1l	C	T	2: 162,929,112 (GRCm39)	V124I	probably damaging	Het
Gucy1b1	C	G	3: 81,953,974 (GRCm39)	G114A	probably benign	Het
Hk2	T	C	6: 82,720,936 (GRCm39)	Q166R	possibly damaging	Het
Hook2	A	G	8: 85,718,006 (GRCm39)	I44M	probably damaging	Het
Ildr1	T	A	16: 36,541,921 (GRCm39)	M222K	probably damaging	Het
Ints6	A	T	14: 62,997,640 (GRCm39)	F55Y	probably benign	Het
Kcnh1	A	G	1: 191,959,388 (GRCm39)	N314S	probably damaging	Het
Lpin3	T	C	2: 160,746,748 (GRCm39)	F748L	probably damaging	Het
Lrsam1	T	C	2: 32,826,407 (GRCm39)		probably benign	Het
Msh2	A	T	17: 88,025,004 (GRCm39)	K627N	possibly damaging	Het
Myrip	A	G	9: 120,251,534 (GRCm39)	Q219R	probably damaging	Het
Ndufb3	T	A	1: 58,630,401 (GRCm39)	W51R	probably damaging	Het
Nfasc	A	T	1: 132,512,185 (GRCm39)		probably benign	Het
Or2c1	T	A	16: 3,656,912 (GRCm39)	I25N	probably benign	Het
Or2h2	T	A	17: 37,396,446 (GRCm39)	I204F	probably benign	Het
P3h3	T	A	6: 124,832,199 (GRCm39)	E229V	probably damaging	Het
Ppfia2	T	A	10: 106,701,224 (GRCm39)	L837*	probably null	Het
Ppp2r1a	G	A	17: 21,179,101 (GRCm39)		probably null	Het
Rabgap1	T	A	2: 37,377,152 (GRCm39)	V328E	probably damaging	Het
Ralgapb	G	A	2: 158,337,455 (GRCm39)	R1138Q	probably damaging	Het
Ranbp2	A	T	10: 58,299,942 (GRCm39)	Q498L	probably benign	Het
Rbx1	T	A	15: 81,355,161 (GRCm39)	C56S	probably damaging	Het
Rcan2	T	C	17: 44,328,704 (GRCm39)	F45S	probably damaging	Het
Rgs20	T	C	1: 4,980,770 (GRCm39)	Y185C	probably damaging	Het
Rorc	T	G	3: 94,298,460 (GRCm39)	L315R	probably damaging	Het
Skic2	A	G	17: 35,066,401 (GRCm39)	V194A	probably benign	Het
Slc13a2	T	C	11: 78,290,987 (GRCm39)	K406E	possibly damaging	Het
Slc35g3	T	A	11: 69,651,866 (GRCm39)	K62*	probably null	Het
Sox30	T	C	11: 45,882,736 (GRCm39)	S589P	probably benign	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Ssh2	T	A	11: 77,346,102 (GRCm39)	C1362*	probably null	Het
Tecta	C	T	9: 42,284,538 (GRCm39)	C849Y	probably damaging	Het
Thbs1	T	A	2: 117,950,518 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tut4	T	C	4: 108,384,043 (GRCm39)		probably benign	Het
Tyk2	C	T	9: 21,027,126 (GRCm39)		probably null	Het
Tyw5	C	A	1: 57,446,004 (GRCm39)		probably benign	Het
Vcp	T	C	4: 42,980,828 (GRCm39)	T761A	probably benign	Het
Wdfy4	A	T	14: 32,822,897 (GRCm39)	C1401S	probably benign	Het
Wiz	T	C	17: 32,578,340 (GRCm39)	N391D	probably damaging	Het
Ylpm1	G	A	12: 85,061,523 (GRCm39)	E475K	unknown	Het
Zfp108	G	T	7: 23,960,163 (GRCm39)	K251N	probably benign	Het
Zfp184	A	G	13: 22,142,594 (GRCm39)	D100G	probably benign	Het
Zfp990	T	A	4: 145,264,669 (GRCm39)	C556S	possibly damaging	Het
Zkscan16	C	T	4: 58,951,892 (GRCm39)	P189L	probably damaging	Het

Other mutations in Or8s8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Or8s8	APN	15	98,354,299 (GRCm39)	missense	possibly damaging	0.61
IGL01016:Or8s8	APN	15	98,354,186 (GRCm39)	utr 5 prime	probably benign
IGL02372:Or8s8	APN	15	98,354,709 (GRCm39)	missense	probably damaging	1.00
IGL02730:Or8s8	APN	15	98,354,317 (GRCm39)	missense	probably damaging	1.00
R0732:Or8s8	UTSW	15	98,354,959 (GRCm39)	missense	possibly damaging	0.94
R1714:Or8s8	UTSW	15	98,354,614 (GRCm39)	missense	probably damaging	1.00
R1959:Or8s8	UTSW	15	98,354,634 (GRCm39)	missense	probably damaging	1.00
R4169:Or8s8	UTSW	15	98,354,878 (GRCm39)	missense	probably benign	0.00
R4902:Or8s8	UTSW	15	98,354,796 (GRCm39)	missense	probably damaging	0.99
R6082:Or8s8	UTSW	15	98,354,647 (GRCm39)	missense	probably damaging	0.97
R6378:Or8s8	UTSW	15	98,354,425 (GRCm39)	missense	probably benign	0.42
R7383:Or8s8	UTSW	15	98,354,578 (GRCm39)	missense	probably damaging	1.00
R7850:Or8s8	UTSW	15	98,354,949 (GRCm39)	missense	probably damaging	1.00
R7853:Or8s8	UTSW	15	98,354,866 (GRCm39)	missense	probably benign	0.42
R7912:Or8s8	UTSW	15	98,354,574 (GRCm39)	missense	probably benign	0.00
R8750:Or8s8	UTSW	15	98,354,929 (GRCm39)	missense	probably damaging	0.97
R9326:Or8s8	UTSW	15	98,354,935 (GRCm39)	missense	probably damaging	1.00
R9786:Or8s8	UTSW	15	98,354,713 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ACGAACTCTGTCTGAAGTTGG -3'
(R):5'- CGCTGTACTGCAAGGAAGAG -3'

Sequencing Primer
(F):5'- CAGTTCAGTAGTCATTGTGCTC -3'
(R):5'- TACTGCAAGGAAGAGAGCAAGTCC -3'

Posted On

2016-05-10