Mutagenetix > Incidental Mutation

Incidental Mutation 'R4698:Or52s6'

355838

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.269) question?

Stock #

R4698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103091347-103092357 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103091842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 163 (I163F)

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: I163F

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000079489
Gene: ENSMUSG00000109659
AA Change: I163F

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: I163F

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	A	G	17: 48,349,049 (GRCm39)	V11A	possibly damaging	Het
6030452D12Rik	T	C	8: 107,230,979 (GRCm39)	I55T	unknown	Het
Aadacl2	A	G	3: 59,932,460 (GRCm39)	D325G	probably benign	Het
Adh1	A	G	3: 137,988,274 (GRCm39)	S113G	probably benign	Het
Agxt2	T	C	15: 10,392,130 (GRCm39)		probably null	Het
Aicda	C	T	6: 122,530,847 (GRCm39)		probably benign	Het
Aifm2	T	C	10: 61,563,535 (GRCm39)	M135T	probably benign	Het
Asah2	T	C	19: 32,031,871 (GRCm39)		probably null	Het
Btbd17	T	C	11: 114,682,543 (GRCm39)	R390G	probably damaging	Het
Cadps	T	C	14: 12,705,654 (GRCm38)	E247G	possibly damaging	Het
Cds2	T	C	2: 132,146,873 (GRCm39)	I383T	probably damaging	Het
Celf3	T	A	3: 94,392,174 (GRCm39)		probably null	Het
Crhr2	T	C	6: 55,079,852 (GRCm39)	S162G	possibly damaging	Het
Dapl1	A	T	2: 59,335,118 (GRCm39)	K91*	probably null	Het
Ddx60	A	C	8: 62,465,458 (GRCm39)	M1372L	probably benign	Het
Dnah2	A	T	11: 69,389,358 (GRCm39)	F845I	probably damaging	Het
Dscam	T	C	16: 96,411,524 (GRCm39)	D1784G	probably damaging	Het
Ech1	T	C	7: 28,531,478 (GRCm39)	V310A	probably benign	Het
Eef1g	A	G	19: 8,955,330 (GRCm39)	D393G	possibly damaging	Het
Eif3k	T	C	7: 28,671,969 (GRCm39)	I172V	possibly damaging	Het
Foxd4	A	G	19: 24,877,625 (GRCm39)	F192L	probably damaging	Het
Gpr153	T	A	4: 152,366,240 (GRCm39)	S268R	probably damaging	Het
H3c13	C	A	3: 96,176,394 (GRCm39)	R129S	probably damaging	Het
Ivl	T	C	3: 92,478,698 (GRCm39)	K456E	unknown	Het
Kif20b	A	T	19: 34,928,944 (GRCm39)	D1190V	probably damaging	Het
Kif21a	T	A	15: 90,840,508 (GRCm39)	I1223L	possibly damaging	Het
Lmf1	T	C	17: 25,798,324 (GRCm39)	V55A	probably damaging	Het
Loxhd1	A	G	18: 77,459,987 (GRCm39)	E659G	possibly damaging	Het
Lrrc37a	T	C	11: 103,394,930 (GRCm39)	E165G	possibly damaging	Het
Mios	T	C	6: 8,228,113 (GRCm39)	Y677H	possibly damaging	Het
Mnx1	T	A	5: 29,679,057 (GRCm39)	K342M	unknown	Het
Mtpap	A	T	18: 4,375,724 (GRCm39)	T35S	possibly damaging	Het
Ndc1	C	G	4: 107,268,334 (GRCm39)	D623E	probably benign	Het
Nedd4l	A	G	18: 65,336,951 (GRCm39)	Y666C	probably damaging	Het
Or5ac22	T	C	16: 59,135,720 (GRCm39)	T17A	probably damaging	Het
Or5b12b	T	G	19: 12,861,985 (GRCm39)	F247V	probably benign	Het
Or5m10b	A	G	2: 85,699,596 (GRCm39)	Y220C	possibly damaging	Het
Papss1	G	T	3: 131,313,092 (GRCm39)	V369F	probably damaging	Het
Pcdhac2	T	A	18: 37,278,822 (GRCm39)	Y601N	probably damaging	Het
Pde7a	C	T	3: 19,365,095 (GRCm39)	R24Q	probably damaging	Het
Phf21a	A	G	2: 92,187,297 (GRCm39)	D445G	probably damaging	Het
Plekho1	T	A	3: 95,902,964 (GRCm39)	N15I	possibly damaging	Het
Pprc1	T	C	19: 46,057,634 (GRCm39)		probably benign	Het
Ralgapa1	A	T	12: 55,724,061 (GRCm39)		probably null	Het
Rrp12	T	C	19: 41,861,481 (GRCm39)	E942G	probably benign	Het
Skor1	T	C	9: 63,051,830 (GRCm39)	D685G	probably benign	Het
Smim23	A	T	11: 32,774,510 (GRCm39)	I3N	possibly damaging	Het
Spata7	A	T	12: 98,630,536 (GRCm39)	I333F	probably damaging	Het
Sppl2c	T	C	11: 104,079,141 (GRCm39)	I647T	probably benign	Het
Srgap1	C	A	10: 121,628,392 (GRCm39)	R837L	probably benign	Het
Stpg2	C	A	3: 139,014,990 (GRCm39)	P385H	probably damaging	Het
Tmem238	C	A	7: 4,792,016 (GRCm39)	E19*	probably null	Het
Top2b	A	T	14: 16,387,331 (GRCm38)	K140*	probably null	Het
Trp53	T	A	11: 69,479,248 (GRCm39)	L142*	probably null	Het
Tyro3	A	T	2: 119,633,751 (GRCm39)	D133V	probably damaging	Het
Virma	T	A	4: 11,528,636 (GRCm39)	I1291N	probably damaging	Het
Vmn1r213	A	G	13: 23,195,507 (GRCm39)		probably benign	Het
Zbtb10	T	C	3: 9,329,610 (GRCm39)	S323P	possibly damaging	Het
Zfp521	A	T	18: 13,978,660 (GRCm39)	N584K	probably damaging	Het
Zfp944	A	G	17: 22,558,180 (GRCm39)	C356R	probably damaging	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
R0465:Or52s6	UTSW	7	103,092,042 (GRCm39)	missense	possibly damaging	0.67
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'- TGCTTCTCGAGATGGAAGACG -3'
(R):5'- CACCTTCGATGCATGCCTTG -3'

Sequencing Primer
(F):5'- CTTCTCGAGATGGAAGACGAAAAAC -3'
(R):5'- TGCTCAAATGTTCTTCATCCATAG -3'

Posted On

2015-10-21