Mutagenetix > Incidental Mutation

Incidental Mutation 'R1671:Or52ae9'

187612

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

039707-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R1671 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103389408-103390529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 103389617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 277 (A277S)

Ref Sequence

ENSEMBL: ENSMUSP00000149272 (fasta)

Gene Model

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

AlphaFold

Q0VBH3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051346
AA Change: A277S

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000052662
Gene: ENSMUSG00000047545
AA Change: A277S

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

possibly damaging
Transcript: ENSMUST00000213906
AA Change: A277S

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216300
AA Change: A277S

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

Meta Mutation Damage Score

0.3485

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

100% (70/70)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	C	14: 64,210,637 (GRCm39)	L197R	probably benign	Het
Arglu1	A	G	8: 8,733,896 (GRCm39)	V140A	possibly damaging	Het
Arhgef28	T	C	13: 98,067,542 (GRCm39)	E1461G	possibly damaging	Het
Best3	A	T	10: 116,860,573 (GRCm39)	D611V	possibly damaging	Het
Cenpf	T	C	1: 189,411,341 (GRCm39)		probably null	Het
Cenpj	A	C	14: 56,802,502 (GRCm39)	M21R	probably damaging	Het
Cltc	A	T	11: 86,623,421 (GRCm39)	H201Q	possibly damaging	Het
Col28a1	A	T	6: 8,083,773 (GRCm39)	N561K	possibly damaging	Het
Cyp2c70	G	A	19: 40,142,081 (GRCm39)	P470L	probably damaging	Het
Cyp4f14	G	A	17: 33,135,883 (GRCm39)		probably benign	Het
Ddi1	A	T	9: 6,266,225 (GRCm39)	V48D	possibly damaging	Het
Dnah11	A	C	12: 117,880,523 (GRCm39)	Y3866D	probably damaging	Het
Dnah9	A	G	11: 65,818,789 (GRCm39)	V3183A	probably damaging	Het
Elmo1	T	A	13: 20,472,054 (GRCm39)		probably benign	Het
Fap	T	A	2: 62,384,179 (GRCm39)	Y9F	possibly damaging	Het
Fbxo15	T	A	18: 84,977,231 (GRCm39)	S93T	possibly damaging	Het
Gal3st2	C	T	1: 93,801,400 (GRCm39)	R19C	probably damaging	Het
Gmnn	A	T	13: 24,936,054 (GRCm39)	*207R	probably null	Het
Gucy1a1	A	C	3: 82,013,529 (GRCm39)	I371S	probably damaging	Het
H1f11-ps	C	A	19: 47,159,294 (GRCm39)	V94L	possibly damaging	Het
Igsf10	G	T	3: 59,235,921 (GRCm39)	S1420*	probably null	Het
Itih5	G	T	2: 10,191,782 (GRCm39)	V106L	probably benign	Het
Itsn1	T	A	16: 91,609,038 (GRCm39)	I201K	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lars2	C	T	9: 123,247,344 (GRCm39)	T283I	probably benign	Het
Loxhd1	T	C	18: 77,492,498 (GRCm39)	I1313T	probably damaging	Het
Mamdc4	T	A	2: 25,458,235 (GRCm39)	R368*	probably null	Het
Mdga1	A	T	17: 30,069,603 (GRCm39)	Y422N	probably damaging	Het
Mro	A	T	18: 74,003,126 (GRCm39)		probably benign	Het
Mroh2b	T	C	15: 4,980,776 (GRCm39)		probably null	Het
Nlrp1b	C	A	11: 71,092,085 (GRCm39)	V14L	probably benign	Het
Nos3	A	G	5: 24,588,838 (GRCm39)	D1157G	probably damaging	Het
Nrxn2	C	A	19: 6,523,780 (GRCm39)	R598S	probably damaging	Het
Or2av9	A	T	11: 58,381,435 (GRCm39)	W49R	possibly damaging	Het
Or4k1	T	C	14: 50,377,290 (GRCm39)	K269E	probably damaging	Het
Or8b101	A	G	9: 38,020,428 (GRCm39)	M144V	probably benign	Het
Otog	A	T	7: 45,911,210 (GRCm39)	D687V	probably damaging	Het
Pcsk5	C	T	19: 17,432,232 (GRCm39)	C1461Y	probably damaging	Het
Raet1d	A	G	10: 22,238,614 (GRCm39)	M1V	probably null	Het
Rnf6	A	T	5: 146,147,998 (GRCm39)	L340*	probably null	Het
Rsl1d1	T	C	16: 11,019,245 (GRCm39)	T99A	probably damaging	Het
Sbno1	A	T	5: 124,530,130 (GRCm39)		probably null	Het
Sipa1l1	A	G	12: 82,444,235 (GRCm39)	Y982C	probably damaging	Het
Sorbs3	G	T	14: 70,428,915 (GRCm39)	R417S	possibly damaging	Het
Sorl1	A	G	9: 41,885,296 (GRCm39)	C2102R	probably damaging	Het
Sp140l2	C	T	1: 85,235,106 (GRCm39)		probably null	Het
Sptbn1	T	A	11: 30,092,245 (GRCm39)	I494F	possibly damaging	Het
Tank	T	A	2: 61,480,097 (GRCm39)	V211E	probably damaging	Het
Tbcd	T	A	11: 121,488,120 (GRCm39)	D840E	probably benign	Het
Tg	T	A	15: 66,564,236 (GRCm39)	C1146S	possibly damaging	Het
Tiam2	A	T	17: 3,557,109 (GRCm39)	E110V	probably damaging	Het
Tle4	A	T	19: 14,431,103 (GRCm39)	W560R	probably damaging	Het
Triml2	G	A	8: 43,636,780 (GRCm39)	R76H	possibly damaging	Het
Ttn	T	C	2: 76,541,964 (GRCm39)	E25347G	probably damaging	Het
Ube2e2	A	G	14: 18,586,889 (GRCm38)	L124P	probably damaging	Het
Vmn2r81	A	G	10: 79,103,265 (GRCm39)	K153E	probably benign	Het
Wnt16	A	T	6: 22,298,178 (GRCm39)	Y348F	probably damaging	Het
Xpo6	A	G	7: 125,707,715 (GRCm39)	V897A	possibly damaging	Het
Zbtb26	T	C	2: 37,326,377 (GRCm39)	T220A	probably benign	Het
Zik1	A	T	7: 10,224,675 (GRCm39)	S141T	probably damaging	Het
Zkscan3	A	G	13: 21,580,305 (GRCm39)	Y128H	possibly damaging	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
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
R6755:Or52ae9	UTSW	7	103,389,707 (GRCm39)	missense	probably damaging	0.99
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'- ACTGCGATCAAAACTGCCATTGCTACA -3'
(R):5'- GTCTCTCTTCCCAGAATGCCCGCTCTAA -3'

Sequencing Primer
(F):5'- ggaggcagaggcaaatgg -3'
(R):5'- TCTAAAGCCTTGGGCACCTG -3'

Posted On

2014-05-09