Mutagenetix > Incidental Mutation

Incidental Mutation 'R1490:Or52e15'

163649

Institutional Source

Beutler Lab

Gene Symbol

Or52e15

Ensembl Gene

ENSMUSG00000051172

Gene Name

olfactory receptor family 52 subfamily E member 15

Synonyms

Olfr672, MOR32-4, GA_x6K02T2PBJ9-7625746-7624808

MMRRC Submission

039542-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R1490 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104645171-104646109 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104645700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 137 (I137T)

Ref Sequence

ENSEMBL: ENSMUSP00000149704 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050599] [ENSMUST00000213942]

AlphaFold

Q8VG28

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050599
AA Change: I137T

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054607
Gene: ENSMUSG00000051172
AA Change: I137T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	9.1e-111	PFAM
Pfam:7TM_GPCR_Srsx	37	304	4.8e-7	PFAM
Pfam:7tm_1	43	293	5.8e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211761
AA Change: I137T

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213942
AA Change: I137T

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	G	A	10: 83,356,234 (GRCm39)	T52I	probably damaging	Het
Arhgef28	G	A	13: 98,114,952 (GRCm39)	R633W	probably damaging	Het
Atg9a	T	C	1: 75,162,389 (GRCm39)	N507S	possibly damaging	Het
Bsn	A	G	9: 107,991,193 (GRCm39)	S1520P	probably benign	Het
Cacul1	G	T	19: 60,568,837 (GRCm39)	A107E	probably damaging	Het
Cd74	A	G	18: 60,944,438 (GRCm39)	D216G	probably damaging	Het
Cdh16	A	T	8: 105,348,702 (GRCm39)	W109R	probably damaging	Het
Cdip1	C	T	16: 4,586,775 (GRCm39)	V100I	probably damaging	Het
Ceacam3	A	G	7: 16,897,071 (GRCm39)	D679G	probably damaging	Het
Comp	A	G	8: 70,826,563 (GRCm39)	D46G	possibly damaging	Het
Dlx3	T	C	11: 95,011,430 (GRCm39)	Y95H	probably benign	Het
Dmrta2	T	C	4: 109,837,072 (GRCm39)	S5P	unknown	Het
E130308A19Rik	A	G	4: 59,719,746 (GRCm39)	Y426C	probably damaging	Het
Entpd3	A	G	9: 120,383,225 (GRCm39)	S87G	probably benign	Het
Eps8l1	A	G	7: 4,473,888 (GRCm39)	R232G	probably damaging	Het
Gart	A	T	16: 91,421,232 (GRCm39)	V812D	probably damaging	Het
Gm10153	C	T	7: 141,743,879 (GRCm39)	C83Y	unknown	Het
Gpd2	T	C	2: 57,245,487 (GRCm39)	V394A	probably damaging	Het
Hpcal1	A	T	12: 17,836,225 (GRCm39)	E18D	probably benign	Het
Mdga2	T	C	12: 66,844,530 (GRCm39)	D156G	probably benign	Het
Mks1	A	G	11: 87,753,595 (GRCm39)	K510E	probably benign	Het
Ms4a19	A	G	19: 11,118,902 (GRCm39)	I69T	probably benign	Het
Mtmr4	G	A	11: 87,503,051 (GRCm39)	R1035Q	probably damaging	Het
Myh6	T	A	14: 55,200,175 (GRCm39)	K235*	probably null	Het
Nedd1	A	G	10: 92,536,660 (GRCm39)	F214S	probably damaging	Het
Or1e32	A	G	11: 73,705,197 (GRCm39)	V237A	possibly damaging	Het
Or1o3	A	G	17: 37,573,733 (GRCm39)	M274T	probably benign	Het
Or2l13	T	C	16: 19,305,672 (GRCm39)	M28T	probably benign	Het
Pfkfb2	A	C	1: 130,625,626 (GRCm39)		probably null	Het
Pfkfb4	T	C	9: 108,856,688 (GRCm39)	L398P	probably damaging	Het
Pfn3	T	G	13: 55,562,732 (GRCm39)	D83A	probably damaging	Het
Pi4ka	C	A	16: 17,204,132 (GRCm39)	W54L	probably damaging	Het
Ppp3r1	A	G	11: 17,148,275 (GRCm39)	D161G	probably benign	Het
Prrc2a	A	G	17: 35,372,230 (GRCm39)	S1757P	probably benign	Het
Samd7	A	G	3: 30,812,502 (GRCm39)	E314G	probably benign	Het
Slc17a4	A	G	13: 24,088,736 (GRCm39)	I217T	probably benign	Het
Slc22a1	A	T	17: 12,881,780 (GRCm39)		probably null	Het
Slc7a7	C	T	14: 54,646,103 (GRCm39)	R120H	probably damaging	Het
Sos1	A	T	17: 80,721,104 (GRCm39)	H905Q	probably benign	Het
Thada	G	A	17: 84,754,029 (GRCm39)	T314I	possibly damaging	Het
Tirap	ACTGCTGCTGCTGCTGCTG	ACTGCTGCTGCTGCTG	9: 35,100,362 (GRCm39)		probably benign	Het
Tlr11	A	C	14: 50,600,633 (GRCm39)	H873P	probably benign	Het
Tlr4	A	T	4: 66,757,611 (GRCm39)	T135S	possibly damaging	Het
Tmem116	T	C	5: 121,633,174 (GRCm39)	S183P	probably damaging	Het
Tubgcp3	A	T	8: 12,689,550 (GRCm39)	I572K	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ush2a	C	T	1: 188,092,038 (GRCm39)	T523I	probably benign	Het
Usp40	G	A	1: 87,916,687 (GRCm39)	Q364*	probably null	Het
Vmn1r61	T	C	7: 5,614,242 (GRCm39)	Q24R	probably benign	Het
Wdfy4	C	A	14: 32,874,495 (GRCm39)		probably null	Het
Zfp458	G	A	13: 67,405,573 (GRCm39)	P286S	probably damaging	Het
Zfp68	A	T	5: 138,605,091 (GRCm39)	C373S	probably benign	Het
Zfp768	T	A	7: 126,942,803 (GRCm39)	I442F	probably damaging	Het
Zfp990	A	G	4: 145,263,853 (GRCm39)	R284G	probably benign	Het

Other mutations in Or52e15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01302:Or52e15	APN	7	104,645,928 (GRCm39)	missense	probably damaging	1.00
PIT4151001:Or52e15	UTSW	7	104,645,424 (GRCm39)	missense	probably damaging	1.00
R0396:Or52e15	UTSW	7	104,645,913 (GRCm39)	missense	probably damaging	0.99
R0632:Or52e15	UTSW	7	104,645,910 (GRCm39)	missense	probably benign	0.00
R1781:Or52e15	UTSW	7	104,645,315 (GRCm39)	missense	possibly damaging	0.80
R2251:Or52e15	UTSW	7	104,645,802 (GRCm39)	missense	probably damaging	1.00
R3419:Or52e15	UTSW	7	104,645,727 (GRCm39)	missense	probably damaging	1.00
R3625:Or52e15	UTSW	7	104,645,191 (GRCm39)	missense	probably benign	0.17
R4093:Or52e15	UTSW	7	104,645,842 (GRCm39)	missense	probably benign	0.01
R4620:Or52e15	UTSW	7	104,645,830 (GRCm39)	missense	probably damaging	1.00
R4890:Or52e15	UTSW	7	104,645,311 (GRCm39)	missense	probably benign	0.15
R5338:Or52e15	UTSW	7	104,645,514 (GRCm39)	missense	possibly damaging	0.61
R5934:Or52e15	UTSW	7	104,645,385 (GRCm39)	missense	probably damaging	1.00
R6712:Or52e15	UTSW	7	104,645,625 (GRCm39)	missense	possibly damaging	0.92
R7620:Or52e15	UTSW	7	104,645,962 (GRCm39)	missense	possibly damaging	0.64
R9088:Or52e15	UTSW	7	104,645,301 (GRCm39)	missense	probably damaging	1.00
R9435:Or52e15	UTSW	7	104,645,946 (GRCm39)	missense	probably benign	0.00
Z1088:Or52e15	UTSW	7	104,645,661 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATGCTGACACATGCCAGTCGAG -3'
(R):5'- GCACAGCCTTCACCAACCTATGTTC -3'

Sequencing Primer
(F):5'- AGCAATGCCCATGTGCTC -3'
(R):5'- ACTTGGGTCTGTCTACAGCAAC -3'

Posted On

2014-03-28