Mutagenetix > Incidental Mutation

Incidental Mutation 'R4125:Or52ae9'

315354

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

041633-MU

Accession Numbers

Essential gene?

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

Stock #

R4125 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103389408-103390529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103390207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 80 (K80R)

Ref Sequence

ENSEMBL: ENSMUSP00000149272 (fasta)

Gene Model

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

AlphaFold

Q0VBH3

Predicted Effect

probably benign
Transcript: ENSMUST00000051346
AA Change: K80R

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000052662
Gene: ENSMUSG00000047545
AA Change: K80R

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 benign
Transcript: ENSMUST00000213906
AA Change: K80R

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000216300
AA Change: K80R

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.2870

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (52/53)

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
Adam30	T	A	3: 98,068,679 (GRCm39)	C43S	probably damaging	Het
Adamts6	A	T	13: 104,449,412 (GRCm39)	Y274F	probably damaging	Het
Ap2b1	A	G	11: 83,256,471 (GRCm39)		probably null	Het
Atm	A	C	9: 53,361,921 (GRCm39)	L2732R	probably damaging	Het
Bbox1	A	G	2: 110,100,525 (GRCm39)	V224A	probably benign	Het
Bmpr1a	T	C	14: 34,156,690 (GRCm39)	D112G	probably benign	Het
Cdk19	A	G	10: 40,270,391 (GRCm39)	I67V	probably benign	Het
Cds2	A	G	2: 132,139,191 (GRCm39)	T145A	probably benign	Het
Chd9	A	G	8: 91,777,912 (GRCm39)	D2641G	probably damaging	Het
Chn2	G	T	6: 54,249,963 (GRCm39)	R24M	probably damaging	Het
Chuk	T	C	19: 44,088,613 (GRCm39)	I121V	probably null	Het
Ctsr	A	T	13: 61,309,659 (GRCm39)	D183E	probably benign	Het
Elp3	T	C	14: 65,797,630 (GRCm39)	E347G	possibly damaging	Het
Fhip1a	A	G	3: 85,572,690 (GRCm39)	S988P	possibly damaging	Het
Gnas	A	G	2: 174,141,958 (GRCm39)	N709S	possibly damaging	Het
Gramd2b	T	C	18: 56,618,296 (GRCm39)	S199P	probably damaging	Het
Gtf3c1	A	T	7: 125,246,622 (GRCm39)	C1562*	probably null	Het
Ifit1bl1	T	A	19: 34,572,188 (GRCm39)	I90F	probably damaging	Het
Igf2r	A	T	17: 12,921,141 (GRCm39)	H1313Q	possibly damaging	Het
Ighj4	T	C	12: 113,392,176 (GRCm39)		probably benign	Het
Kansl2	G	T	15: 98,429,636 (GRCm39)	P132Q	possibly damaging	Het
Lman1	T	C	18: 66,120,932 (GRCm39)	H430R	possibly damaging	Het
Lrrk2	T	C	15: 91,699,686 (GRCm39)	I2511T	probably benign	Het
Lvrn	C	A	18: 47,010,036 (GRCm39)	P395T	possibly damaging	Het
Myrip	C	A	9: 120,293,764 (GRCm39)	S753*	probably null	Het
Nectin4	A	G	1: 171,213,301 (GRCm39)	S408G	probably benign	Het
Or14j8	A	G	17: 38,263,681 (GRCm39)	I78T	probably benign	Het
Pcdhb13	T	C	18: 37,576,873 (GRCm39)	I417T	probably damaging	Het
Per2	T	C	1: 91,357,172 (GRCm39)	T664A	possibly damaging	Het
Plec	A	T	15: 76,056,962 (GRCm39)	L4347Q	probably damaging	Het
Poln	A	G	5: 34,261,295 (GRCm39)	S561P	probably benign	Het
Polr1a	T	C	6: 71,942,690 (GRCm39)	F1177L	probably benign	Het
Pramel24	C	T	4: 143,452,850 (GRCm39)	R94*	probably null	Het
Ptprb	A	T	10: 116,189,754 (GRCm39)	R1804S	probably benign	Het
Rhof	C	T	5: 123,257,588 (GRCm39)	V181M	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slc22a12	T	C	19: 6,588,818 (GRCm39)	E281G	probably damaging	Het
Slco6b1	T	A	1: 96,915,622 (GRCm39)		noncoding transcript	Het
Stac	C	A	9: 111,433,126 (GRCm39)		probably null	Het
Tcof1	C	A	18: 60,952,673 (GRCm39)	A898S	unknown	Het
Tep1	C	T	14: 51,081,191 (GRCm39)	R1349Q	possibly damaging	Het
Thoc6	A	T	17: 23,888,319 (GRCm39)		probably benign	Het
Tmem179	A	T	12: 112,477,461 (GRCm39)	F8I	possibly damaging	Het
Tnpo3	A	G	6: 29,560,091 (GRCm39)	L684P	probably damaging	Het
Ubash3a	T	C	17: 31,456,249 (GRCm39)	Y506H	probably damaging	Het
Umps	G	A	16: 33,777,288 (GRCm39)	Q431*	probably null	Het
Unc13c	A	G	9: 73,481,289 (GRCm39)		probably null	Het
Vmn1r210	A	T	13: 23,011,779 (GRCm39)	M169K	probably benign	Het
Zfp946	C	T	17: 22,673,548 (GRCm39)	Q101*	probably null	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
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'- TCATAAGTATAGCTCGGCTTAGGC -3'
(R):5'- AAACTTTCACTGCTGGATTGGC -3'

Sequencing Primer
(F):5'- AATCACCATGGGCGTTGTCAG -3'
(R):5'- GGATTGGCATCCCTGTCTGTC -3'

Posted On

2015-05-14