Mutagenetix > Incidental Mutation

Incidental Mutation 'R6755:Or52ae9'

531012

Institutional Source

Beutler Lab

Gene Symbol

Or52ae9

Ensembl Gene

ENSMUSG00000047545

Gene Name

olfactory receptor family 52 subfamily AE member 9

Synonyms

Olfr629, GA_x6K02T2PBJ9-6466772-6465828, MOR26-2

MMRRC Submission

044871-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R6755 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103389408-103390529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103389707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 247 (T247S)

Ref Sequence

ENSEMBL: ENSMUSP00000149272 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051346] [ENSMUST00000213906] [ENSMUST00000216300]

AlphaFold

Q0VBH3

Predicted Effect

probably damaging
Transcript: ENSMUST00000051346
AA Change: T247S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000052662
Gene: ENSMUSG00000047545
AA Change: T247S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	311	4.9e-103	PFAM
Pfam:7TM_GPCR_Srsx	35	307	1.6e-6	PFAM
Pfam:7tm_1	41	292	5.7e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213906
AA Change: T247S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216300
AA Change: T247S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,475,994 (GRCm39)	T1101M	probably benign	Het
4930433I11Rik	T	C	7: 40,643,734 (GRCm39)	S468P	probably damaging	Het
Adam33	A	G	2: 130,895,069 (GRCm39)	V637A	probably damaging	Het
Adcy5	G	A	16: 35,124,004 (GRCm39)	V1228M	possibly damaging	Het
Ahi1	G	T	10: 20,893,812 (GRCm39)	V848F	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
B4galt6	T	C	18: 20,822,386 (GRCm39)	E264G	probably benign	Het
Bpifb4	A	G	2: 153,799,658 (GRCm39)	T556A	probably damaging	Het
Bptf	A	T	11: 106,938,082 (GRCm39)	S64T	probably benign	Het
C3ar1	A	G	6: 122,826,817 (GRCm39)	S467P	probably benign	Het
Cables1	G	T	18: 12,072,882 (GRCm39)	S479I	probably null	Het
Cbl	T	C	9: 44,084,671 (GRCm39)	I155V	probably damaging	Het
Cdh16	T	C	8: 105,345,880 (GRCm39)	D297G	probably damaging	Het
Cdk8	T	A	5: 146,205,126 (GRCm39)	H102Q	probably damaging	Het
Cpn2	A	T	16: 30,079,149 (GRCm39)	L184Q	probably damaging	Het
Ctso	T	A	3: 81,849,609 (GRCm39)	H109Q	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Drc1	A	G	5: 30,512,490 (GRCm39)	E299G	probably damaging	Het
Elp6	A	G	9: 110,144,893 (GRCm39)	E150G	possibly damaging	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Fbn2	A	G	18: 58,246,405 (GRCm39)	L499S	possibly damaging	Het
Fgf10	C	A	13: 118,925,821 (GRCm39)	A200D	probably damaging	Het
Fhad1	T	C	4: 141,691,915 (GRCm39)	E407G	probably damaging	Het
Hif1an	T	C	19: 44,556,891 (GRCm39)	V232A	probably damaging	Het
Ift172	T	A	5: 31,418,342 (GRCm39)	K1214*	probably null	Het
Il20ra	T	C	10: 19,626,542 (GRCm39)	Y189H	probably benign	Het
Isg20l2	T	A	3: 87,838,996 (GRCm39)	I69N	probably benign	Het
Kif11	A	G	19: 37,398,199 (GRCm39)	D675G	probably benign	Het
Klhdc7a	T	A	4: 139,693,786 (GRCm39)	D387V	possibly damaging	Het
Lrrc4	T	C	6: 28,831,292 (GRCm39)	N108D	probably damaging	Het
Ltbp2	T	A	12: 84,841,847 (GRCm39)	E944V	probably damaging	Het
Magi1	C	T	6: 93,685,158 (GRCm39)	S740N	probably damaging	Het
Med26	A	G	8: 73,249,677 (GRCm39)	I474T	probably damaging	Het
Mgst1	T	A	6: 138,124,770 (GRCm39)	M68K	probably damaging	Het
Myh7	G	A	14: 55,229,770 (GRCm39)	A91V	possibly damaging	Het
Nhlrc2	G	A	19: 56,580,216 (GRCm39)	V450I	probably benign	Het
Nup160	T	G	2: 90,530,800 (GRCm39)	F486C	probably damaging	Het
Nup50l	T	C	6: 96,141,953 (GRCm39)	T364A	probably benign	Het
Obscn	A	T	11: 58,994,152 (GRCm39)	Y1602N	probably damaging	Het
Or5ak4	C	A	2: 85,162,142 (GRCm39)	M33I	probably benign	Het
Otogl	A	T	10: 107,689,164 (GRCm39)	Y955*	probably null	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Pianp	T	C	6: 124,976,347 (GRCm39)	V52A	probably benign	Het
Plekhh2	T	C	17: 84,899,013 (GRCm39)	Y997H	probably damaging	Het
Plekhm1	G	T	11: 103,278,069 (GRCm39)	S342R	possibly damaging	Het
Poglut2	C	T	1: 44,149,894 (GRCm39)		probably null	Het
Ppp4r4	T	A	12: 103,551,996 (GRCm39)	V81E	probably damaging	Het
Pramel52-ps	A	G	5: 94,529,268 (GRCm39)	T13A	probably benign	Het
Ptafr	A	G	4: 132,306,657 (GRCm39)	T16A	probably benign	Het
Ptpn23	A	T	9: 110,218,855 (GRCm39)	L445Q	probably damaging	Het
Rasa1	A	T	13: 85,374,717 (GRCm39)	F751L	possibly damaging	Het
Sap18	A	C	14: 58,039,474 (GRCm39)	D153A	probably damaging	Het
Slc38a11	C	T	2: 65,194,235 (GRCm39)	G10D	probably benign	Het
Snx32	T	C	19: 5,560,372 (GRCm39)	N10D	probably benign	Het
Sox6	T	C	7: 115,261,677 (GRCm39)	T180A	probably damaging	Het
Srrt	T	C	5: 137,301,192 (GRCm39)	K78R	probably damaging	Het
Syce3	T	C	15: 89,281,567 (GRCm39)	D24G	probably damaging	Het
Taok3	T	A	5: 117,344,732 (GRCm39)	I153N	probably damaging	Het
Tesk1	A	G	4: 43,445,991 (GRCm39)	Q308R	probably benign	Het
Tm7sf3	A	T	6: 146,511,471 (GRCm39)		probably null	Het
Tmbim6	T	C	15: 99,300,034 (GRCm39)	V50A	probably benign	Het
Tmem107	T	C	11: 68,961,837 (GRCm39)	V22A	probably damaging	Het
Ttc12	T	C	9: 49,364,646 (GRCm39)	I377V	probably benign	Het
Ufl1	T	A	4: 25,262,316 (GRCm39)	N310I	probably damaging	Het
Ush2a	C	A	1: 188,175,416 (GRCm39)	N1171K	possibly damaging	Het
Utrn	A	T	10: 12,574,831 (GRCm39)	V1032E	probably benign	Het

Other mutations in Or52ae9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Or52ae9	APN	7	103,390,172 (GRCm39)	missense	probably benign	0.03
IGL01531:Or52ae9	APN	7	103,390,321 (GRCm39)	missense	probably damaging	1.00
IGL02263:Or52ae9	APN	7	103,390,262 (GRCm39)	missense	probably damaging	1.00
IGL02543:Or52ae9	APN	7	103,389,710 (GRCm39)	missense	possibly damaging	0.50
BB005:Or52ae9	UTSW	7	103,390,397 (GRCm39)	missense	probably damaging	1.00
BB015:Or52ae9	UTSW	7	103,390,397 (GRCm39)	missense	probably damaging	1.00
R0744:Or52ae9	UTSW	7	103,390,132 (GRCm39)	missense	probably damaging	1.00
R0836:Or52ae9	UTSW	7	103,390,132 (GRCm39)	missense	probably damaging	1.00
R1509:Or52ae9	UTSW	7	103,390,243 (GRCm39)	missense	probably benign	0.12
R1671:Or52ae9	UTSW	7	103,389,617 (GRCm39)	missense	possibly damaging	0.73
R1781:Or52ae9	UTSW	7	103,390,028 (GRCm39)	missense	probably benign	0.00
R1848:Or52ae9	UTSW	7	103,390,381 (GRCm39)	missense	probably benign	0.08
R3930:Or52ae9	UTSW	7	103,389,794 (GRCm39)	missense	probably damaging	1.00
R4125:Or52ae9	UTSW	7	103,390,207 (GRCm39)	missense	probably benign	0.22
R5321:Or52ae9	UTSW	7	103,389,862 (GRCm39)	missense	probably damaging	0.97
R6141:Or52ae9	UTSW	7	103,389,994 (GRCm39)	missense	probably damaging	1.00
R6232:Or52ae9	UTSW	7	103,389,661 (GRCm39)	missense	probably damaging	1.00
R6489:Or52ae9	UTSW	7	103,389,875 (GRCm39)	missense	probably benign	0.09
R7526:Or52ae9	UTSW	7	103,389,607 (GRCm39)	missense	probably damaging	1.00
R7928:Or52ae9	UTSW	7	103,390,397 (GRCm39)	missense	probably damaging	1.00
R8839:Or52ae9	UTSW	7	103,390,021 (GRCm39)	missense	probably benign	0.00
R8890:Or52ae9	UTSW	7	103,389,675 (GRCm39)	missense	probably damaging	1.00
R9209:Or52ae9	UTSW	7	103,390,319 (GRCm39)	missense	probably benign	0.12
Z1177:Or52ae9	UTSW	7	103,390,275 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACTCACCACTCTGTCACG -3'
(R):5'- ATGTCATCCATCATGCATACTGTG -3'

Sequencing Primer
(F):5'- ACGAATCTGTTTGGTCTTAGCAC -3'
(R):5'- CATCATGCATACTGTGAGCACATGG -3'

Posted On

2018-08-01