Mutagenetix > Incidental Mutation

Incidental Mutation 'R0465:Or52s6'

41578

Institutional Source

Beutler Lab

Gene Symbol

Or52s6

Ensembl Gene

ENSMUSG00000109659

Gene Name

olfactory receptor family 52 subfamily S member 6

Synonyms

MOR24-5, GA_x6K02T2PBJ9-6164792-6163848, MOR202-22P, Olfr605

MMRRC Submission

038665-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

R0465 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103091347-103092357 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103092042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 96 (F96Y)

Ref Sequence

ENSEMBL: ENSMUSP00000151125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080660] [ENSMUST00000215417]

AlphaFold

E9Q838

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080660
AA Change: F96Y

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000079489
Gene: ENSMUSG00000109659
AA Change: F96Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	8.6e-105	PFAM
Pfam:7TM_GPCR_Srsx	37	305	1.9e-9	PFAM
Pfam:7tm_1	43	294	6.1e-14	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215417
AA Change: F96Y

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)

Meta Mutation Damage Score

0.2155

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

100% (71/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	T	A	17: 56,092,137 (GRCm39)		probably benign	Het
Ankrd13a	T	A	5: 114,942,295 (GRCm39)	I526N	probably damaging	Het
Aox1	G	A	1: 58,101,366 (GRCm39)	V446I	probably damaging	Het
Arid1b	G	A	17: 5,046,535 (GRCm39)	G441D	possibly damaging	Het
Bdkrb2	A	T	12: 105,558,118 (GRCm39)	N120Y	possibly damaging	Het
Bud31	G	A	5: 145,083,396 (GRCm39)	V80I	probably damaging	Het
Camkmt	T	A	17: 85,738,950 (GRCm39)	F225L	probably damaging	Het
Carf	T	C	1: 60,171,142 (GRCm39)	M200T	probably damaging	Het
Carmil3	T	C	14: 55,737,318 (GRCm39)	L767P	probably damaging	Het
Cdk14	T	A	5: 5,143,019 (GRCm39)	R237S	probably damaging	Het
Cdx2	C	A	5: 147,243,283 (GRCm39)	K170N	possibly damaging	Het
Cfap65	G	A	1: 74,956,043 (GRCm39)	R1093C	possibly damaging	Het
Cnot8	T	A	11: 58,004,886 (GRCm39)	V195E	probably damaging	Het
Copa	T	C	1: 171,945,872 (GRCm39)	F936S	probably damaging	Het
Cstdc1	A	G	2: 148,625,345 (GRCm39)	N93S	probably benign	Het
Dnai1	T	A	4: 41,629,988 (GRCm39)		probably null	Het
Dsel	T	C	1: 111,789,992 (GRCm39)	N181S	probably benign	Het
Enpp7	A	G	11: 118,879,607 (GRCm39)	N87S	probably damaging	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gm12695	T	C	4: 96,673,312 (GRCm39)	Y29C	probably damaging	Het
Gm5592	T	A	7: 40,805,481 (GRCm39)		probably benign	Het
Gmnc	T	G	16: 26,781,702 (GRCm39)	N109T	probably damaging	Het
Gstcd	A	G	3: 132,688,905 (GRCm39)	I615T	probably benign	Het
Hal	A	C	10: 93,352,146 (GRCm39)	K646Q	probably benign	Het
Hbs1l	A	G	10: 21,227,940 (GRCm39)	I472V	probably null	Het
Ift27	A	T	15: 78,057,958 (GRCm39)		probably benign	Het
Iqub	A	T	6: 24,503,783 (GRCm39)	I163N	probably damaging	Het
Isg20l2	T	A	3: 87,838,987 (GRCm39)	V66E	probably benign	Het
Itgb4	T	C	11: 115,870,582 (GRCm39)	M137T	probably damaging	Het
Lca5	T	A	9: 83,277,920 (GRCm39)	K475*	probably null	Het
Lyve1	A	G	7: 110,452,034 (GRCm39)		probably null	Het
Map3k19	T	C	1: 127,766,264 (GRCm39)	D220G	probably damaging	Het
Mdn1	T	A	4: 32,699,204 (GRCm39)		probably benign	Het
Mmp15	T	C	8: 96,094,626 (GRCm39)	W167R	probably damaging	Het
Ms4a13	A	G	19: 11,149,957 (GRCm39)	C135R	probably benign	Het
Myh1	A	G	11: 67,101,243 (GRCm39)	H673R	possibly damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Oas2	A	G	5: 120,873,120 (GRCm39)	I645T	probably damaging	Het
Pard3b	T	G	1: 62,250,877 (GRCm39)		probably benign	Het
Patj	T	A	4: 98,423,744 (GRCm39)		probably null	Het
Pcare	A	G	17: 72,057,155 (GRCm39)	C841R	probably benign	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 110,350,295 (GRCm39)	S380N	probably benign	Het
Rab34	C	A	11: 78,081,337 (GRCm39)	C67*	probably null	Het
Rimbp3	T	C	16: 17,029,644 (GRCm39)	S1023P	possibly damaging	Het
Rnf148	T	C	6: 23,654,684 (GRCm39)	N104S	probably benign	Het
Rpa1	T	C	11: 75,203,921 (GRCm39)	T288A	probably damaging	Het
Scn9a	A	G	2: 66,357,340 (GRCm39)	L976P	probably damaging	Het
Serpina12	T	A	12: 104,004,104 (GRCm39)	D176V	probably benign	Het
Sik1	C	T	17: 32,073,996 (GRCm39)	V10I	possibly damaging	Het
Sntb1	C	A	15: 55,612,672 (GRCm39)	R302L	probably benign	Het
Stambp	A	G	6: 83,547,321 (GRCm39)	I56T	probably benign	Het
Tac2	A	G	10: 127,565,039 (GRCm39)		probably benign	Het
Tecta	A	T	9: 42,270,714 (GRCm39)	I1198K	possibly damaging	Het
Tfip11	C	T	5: 112,481,130 (GRCm39)	R369C	probably benign	Het
Tnpo1	A	G	13: 99,021,142 (GRCm39)	I79T	probably damaging	Het
Ttll5	A	T	12: 85,980,100 (GRCm39)	N895Y	probably benign	Het
Ube2u	T	A	4: 100,389,293 (GRCm39)		probably benign	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Vmn2r1	T	C	3: 63,989,180 (GRCm39)	S40P	possibly damaging	Het
Vmn2r100	G	A	17: 19,751,792 (GRCm39)	V612I	probably damaging	Het
Vmn2r59	G	T	7: 41,696,332 (GRCm39)	H137N	probably benign	Het
Vsig10l	T	C	7: 43,116,866 (GRCm39)	V467A	probably damaging	Het
Vwde	A	G	6: 13,215,805 (GRCm39)		probably benign	Het
Xrra1	T	A	7: 99,528,578 (GRCm39)	D139E	probably benign	Het
Zc3h15	T	C	2: 83,494,159 (GRCm39)		probably benign	Het
Zfhx4	C	T	3: 5,310,716 (GRCm39)		probably benign	Het
Zscan18	A	G	7: 12,509,413 (GRCm39)		probably benign	Het

Other mutations in Or52s6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02045:Or52s6	APN	7	103,092,159 (GRCm39)	missense	probably damaging	1.00
IGL03219:Or52s6	APN	7	103,091,745 (GRCm39)	missense	possibly damaging	0.51
IGL03265:Or52s6	APN	7	103,091,655 (GRCm39)	missense	probably benign	0.18
IGL03404:Or52s6	APN	7	103,092,195 (GRCm39)	missense	possibly damaging	0.78
R0294:Or52s6	UTSW	7	103,092,291 (GRCm39)	missense	possibly damaging	0.77
R4698:Or52s6	UTSW	7	103,091,842 (GRCm39)	missense	possibly damaging	0.88
R4758:Or52s6	UTSW	7	103,092,076 (GRCm39)	missense	probably damaging	1.00
R5447:Or52s6	UTSW	7	103,092,147 (GRCm39)	missense	probably damaging	0.99
R5595:Or52s6	UTSW	7	103,091,635 (GRCm39)	missense	probably damaging	1.00
R7196:Or52s6	UTSW	7	103,092,204 (GRCm39)	missense	probably benign	0.15
R7202:Or52s6	UTSW	7	103,092,292 (GRCm39)	missense	probably benign	0.00
R7291:Or52s6	UTSW	7	103,091,995 (GRCm39)	missense	probably benign	0.00
R7636:Or52s6	UTSW	7	103,092,040 (GRCm39)	missense	probably damaging	1.00
R8814:Or52s6	UTSW	7	103,092,120 (GRCm39)	missense	probably benign	0.29
R9170:Or52s6	UTSW	7	103,091,850 (GRCm39)	missense	probably damaging	1.00
R9265:Or52s6	UTSW	7	103,092,165 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- ACAGAGGCCACACTGAGGCTATAAC -3'
(R):5'- TCTCCAAGCACCTTCTGGCTGATG -3'

Sequencing Primer
(F):5'- ACACTGAGGCTATAACGCTTG -3'
(R):5'- AGAACACCTCCATGTCTGGATTG -3'

Posted On

2013-05-23