Mutagenetix > Incidental Mutation

Incidental Mutation 'R5458:Or8s5'

432898

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

043021-MU

Accession Numbers

Essential gene?

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

Stock #

R5458 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98237903-98238820 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98238246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 208 (A208V)

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: A192V

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

SMART Domains

Protein: ENSMUSP00000065626
Gene: ENSMUSG00000051793
AA Change: A192V

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: A208V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

98% (54/55)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	A	G	6: 125,027,013 (GRCm39)		probably benign	Het
Acsl5	A	G	19: 55,282,662 (GRCm39)	D589G	probably damaging	Het
Akap13	T	A	7: 75,236,049 (GRCm39)	L208Q	probably damaging	Het
Ankfn1	C	T	11: 89,325,636 (GRCm39)	R512K	probably benign	Het
Ankhd1	T	C	18: 36,781,538 (GRCm39)	S2197P	probably benign	Het
Ankrd27	A	G	7: 35,291,236 (GRCm39)	N11D	probably damaging	Het
Aspg	T	C	12: 112,086,436 (GRCm39)	V230A	probably damaging	Het
Atp2c1	A	T	9: 105,291,924 (GRCm39)	Y709*	probably null	Het
Atp8b2	T	C	3: 89,853,329 (GRCm39)	N748D	probably benign	Het
B4galnt3	A	G	6: 120,187,346 (GRCm39)	V684A	probably damaging	Het
Bco2	T	C	9: 50,456,644 (GRCm39)		probably null	Het
Bcr	T	C	10: 74,990,792 (GRCm39)	V766A	probably benign	Het
Brca1	T	C	11: 101,408,111 (GRCm39)	N1404S	possibly damaging	Het
Cfap251	A	G	5: 123,392,508 (GRCm39)		probably benign	Het
Chd1	A	G	17: 15,958,811 (GRCm39)	D621G	probably damaging	Het
Chek1	A	G	9: 36,625,725 (GRCm39)	S307P	probably benign	Het
Dhx29	T	C	13: 113,103,155 (GRCm39)	M1345T	probably benign	Het
Dnah6	T	A	6: 73,063,168 (GRCm39)	T2697S	probably damaging	Het
Ephb4	T	C	5: 137,368,114 (GRCm39)	V753A	probably damaging	Het
Fat1	T	C	8: 45,466,090 (GRCm39)	Y1427H	probably damaging	Het
Fggy	A	G	4: 95,814,980 (GRCm39)	Q445R	probably benign	Het
Fv1	A	G	4: 147,954,726 (GRCm39)	S431G	probably benign	Het
Gm5965	A	T	16: 88,575,395 (GRCm39)	R189S	probably benign	Het
Gnas	A	G	2: 174,140,124 (GRCm39)	I98V	probably benign	Het
Ino80	T	C	2: 119,242,910 (GRCm39)	N1086D	possibly damaging	Het
Lclat1	T	C	17: 73,546,914 (GRCm39)	L277P	probably damaging	Het
Lipc	T	C	9: 70,759,864 (GRCm39)		probably benign	Het
Myo3a	T	C	2: 22,250,361 (GRCm39)	I76T	probably damaging	Het
Nkpd1	C	A	7: 19,258,201 (GRCm39)	A510E	probably damaging	Het
Nlgn2	G	T	11: 69,718,726 (GRCm39)	Q285K	possibly damaging	Het
Pax5	T	C	4: 44,679,526 (GRCm39)	D172G	probably damaging	Het
Pcdh15	T	A	10: 74,340,611 (GRCm39)	V1115D	probably damaging	Het
Pdzd7	T	C	19: 45,016,230 (GRCm39)	S964G	probably benign	Het
Phip	G	T	9: 82,808,553 (GRCm39)	P474Q	probably benign	Het
Pop5	C	T	5: 115,378,496 (GRCm39)		probably benign	Het
Ppfibp1	A	T	6: 146,913,933 (GRCm39)		probably benign	Het
Rdh11	C	T	12: 79,235,279 (GRCm39)	A106T	probably benign	Het
Rin3	A	G	12: 102,339,975 (GRCm39)	T642A	probably damaging	Het
Scmh1	C	T	4: 120,362,478 (GRCm39)		probably benign	Het
Skint2	A	G	4: 112,481,377 (GRCm39)	H80R	possibly damaging	Het
Spata16	A	T	3: 26,831,686 (GRCm39)	N265I	probably damaging	Het
Srpk1	T	C	17: 28,818,446 (GRCm39)		probably null	Het
Tcaf1	T	C	6: 42,663,476 (GRCm39)	T135A	probably benign	Het
Trappc12	A	G	12: 28,796,389 (GRCm39)	V381A	probably damaging	Het
Trim33	T	A	3: 103,237,496 (GRCm39)	I184K	possibly damaging	Het
Unc13a	C	T	8: 72,116,889 (GRCm39)	V62M	probably damaging	Het
Vrk2	A	G	11: 26,448,919 (GRCm39)	V225A	probably damaging	Het
Wdr95	C	T	5: 149,487,879 (GRCm39)	P171L	probably damaging	Het
Wsb1	T	C	11: 79,139,262 (GRCm39)	T75A	probably damaging	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
R0485:Or8s5	UTSW	15	98,238,810 (GRCm39)	missense	probably benign	0.01
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
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'- CCGGTAAGAGATAACTGATAAACCC -3'
(R):5'- TTGCTCTACAGCCAGGTGATG -3'

Sequencing Primer
(F):5'- GAGATAACTGATAAACCCCGAGC -3'
(R):5'- CTCTACAGCCAGGTGATGAGTAGC -3'

Posted On

2016-10-06