Mutagenetix > Incidental Mutation

Incidental Mutation 'R6737:Or52a24'

530239

Institutional Source

Beutler Lab

Gene Symbol

Or52a24

Ensembl Gene

ENSMUSG00000096516

Gene Name

olfactory receptor family 52 subfamily A member 24

Synonyms

GA_x6K02T2PBJ9-6457667-6458617, MOR22-1, Olfr1526-ps1, MOR22-4P, Olfr628, MOR22-4P

MMRRC Submission

044855-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R6737 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103381135-103382085 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103381357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 75 (L75F)

Ref Sequence

ENSEMBL: ENSMUSP00000151622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098193] [ENSMUST00000218266]

AlphaFold

K7N6B2

Predicted Effect

probably damaging
Transcript: ENSMUST00000098193
AA Change: L75F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095795
Gene: ENSMUSG00000096516
AA Change: L75F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	313	2.3e-106	PFAM
Pfam:7tm_1	43	295	1.5e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000218266
AA Change: L75F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	T	C	16: 88,504,456 (GRCm39)	R114G	probably damaging	Het
Atm	A	T	9: 53,397,351 (GRCm39)	S1661T	probably benign	Het
Castor1	A	G	11: 4,171,685 (GRCm39)	D303G	probably damaging	Het
Cd69	C	T	6: 129,245,262 (GRCm39)	A188T	probably benign	Het
Cecr2	G	T	6: 120,714,084 (GRCm39)	L225F	possibly damaging	Het
Cep295	A	G	9: 15,243,647 (GRCm39)	V1603A	possibly damaging	Het
Clec4g	T	C	8: 3,757,716 (GRCm39)		probably benign	Het
Clptm1	A	T	7: 19,371,001 (GRCm39)		probably null	Het
Crybg2	G	T	4: 133,800,001 (GRCm39)	G387V	probably damaging	Het
Ctcf	T	A	8: 106,391,140 (GRCm39)	M249K	probably benign	Het
Ctnnd2	C	A	15: 30,966,980 (GRCm39)	S952*	probably null	Het
Cxcr2	T	C	1: 74,197,790 (GRCm39)	F95L	probably benign	Het
Ddx55	C	A	5: 124,691,008 (GRCm39)	T5K	probably damaging	Het
Depp1	G	T	6: 116,629,058 (GRCm39)	V134L	possibly damaging	Het
Eif2ak2	T	C	17: 79,171,377 (GRCm39)	N342S	probably benign	Het
Eif2ak4	TGG	TG	2: 118,292,749 (GRCm39)		probably null	Het
Epb41l2	C	G	10: 25,364,916 (GRCm39)		probably null	Het
Fam234b	A	G	6: 135,205,513 (GRCm39)	K493E	probably damaging	Het
Fndc7	C	A	3: 108,779,594 (GRCm39)	V317L	probably damaging	Het
Fpr-rs6	T	C	17: 20,403,339 (GRCm39)	I7M	probably benign	Het
Gal3st1	T	A	11: 3,948,903 (GRCm39)	I370N	probably benign	Het
Glo1	C	T	17: 30,816,814 (GRCm39)	S114N	probably benign	Het
Grik1	T	C	16: 87,848,279 (GRCm39)	D163G	probably damaging	Het
Grxcr1	T	C	5: 68,267,835 (GRCm39)	C195R	probably damaging	Het
Hdac9	T	C	12: 34,265,451 (GRCm39)	N806S	probably damaging	Het
Igfn1	T	C	1: 135,897,605 (GRCm39)	N987S	probably benign	Het
Klhl29	G	T	12: 5,260,124 (GRCm39)	S31R	possibly damaging	Het
Lama4	C	T	10: 38,970,907 (GRCm39)	R1491C	probably damaging	Het
Lmtk3	T	C	7: 45,443,051 (GRCm39)	L578P	probably damaging	Het
Lrrk2	A	C	15: 91,607,421 (GRCm39)	M595L	possibly damaging	Het
Mmp27	A	T	9: 7,571,955 (GRCm39)	N52Y	possibly damaging	Het
Mrc1	C	T	2: 14,276,088 (GRCm39)	A474V	possibly damaging	Het
Msl1	A	G	11: 98,694,908 (GRCm39)	H134R	probably damaging	Het
Muc5b	T	C	7: 141,411,236 (GRCm39)	M1394T	unknown	Het
Myof	G	A	19: 37,931,962 (GRCm39)	T968I	probably benign	Het
Nat8f2	A	T	6: 85,845,194 (GRCm39)	M56K	probably benign	Het
Ncoa5	C	T	2: 164,844,055 (GRCm39)	G116D	probably damaging	Het
Ndst2	A	G	14: 20,777,562 (GRCm39)	L494P	probably damaging	Het
Nfatc3	T	A	8: 106,810,601 (GRCm39)	V459E	probably damaging	Het
Nup133	A	T	8: 124,633,030 (GRCm39)	Y1034N	probably damaging	Het
Nup153	A	T	13: 46,842,682 (GRCm39)	S829T	probably benign	Het
Or3a1b	A	G	11: 74,012,732 (GRCm39)	S206G	probably benign	Het
Or4f47	T	C	2: 111,972,548 (GRCm39)	F86S	probably damaging	Het
Or5ac19	A	G	16: 59,089,175 (GRCm39)	L285P	possibly damaging	Het
Pcdh18	C	A	3: 49,710,344 (GRCm39)	V324F	probably damaging	Het
Pcdhb5	T	A	18: 37,455,723 (GRCm39)	L701H	probably damaging	Het
Plau	T	G	14: 20,887,884 (GRCm39)	Y43D	probably damaging	Het
Pld5	T	A	1: 175,917,588 (GRCm39)	N53I	probably damaging	Het
Pon2	T	A	6: 5,266,183 (GRCm39)	I279F	probably benign	Het
Prep	A	T	10: 44,973,591 (GRCm39)	K233I	possibly damaging	Het
Rap1b	T	C	10: 117,658,713 (GRCm39)	Y40C	probably damaging	Het
Ric8a	T	C	7: 140,438,789 (GRCm39)		probably null	Het
Rnf19b	T	C	4: 128,979,344 (GRCm39)		probably benign	Het
Rpl9-ps6	A	C	19: 32,443,727 (GRCm39)	S75R	probably damaging	Het
Sh3bp2	A	G	5: 34,719,818 (GRCm39)	Y609C	probably damaging	Het
Skint5	T	C	4: 113,392,936 (GRCm39)	N1232S	unknown	Het
Slc28a1	T	G	7: 80,818,996 (GRCm39)	V615G	probably benign	Het
Smc1b	C	T	15: 84,976,232 (GRCm39)	R825Q	probably benign	Het
Snx13	T	G	12: 35,190,185 (GRCm39)	N845K	probably damaging	Het
Srms	T	C	2: 180,851,253 (GRCm39)	Y171C	probably damaging	Het
Supt6	A	G	11: 78,122,644 (GRCm39)	L193P	probably damaging	Het
Syt7	G	A	19: 10,421,408 (GRCm39)	V531M	probably damaging	Het
Tmem255b	T	C	8: 13,507,096 (GRCm39)		probably null	Het
Tnik	A	T	3: 28,650,235 (GRCm39)	K449N	possibly damaging	Het
Trim29	A	T	9: 43,230,681 (GRCm39)	D288V	probably benign	Het
Ttc13	T	A	8: 125,408,900 (GRCm39)		probably null	Het
Uchl3	A	T	14: 101,928,033 (GRCm39)	D167V	probably damaging	Het
Ugt3a1	T	C	15: 9,311,895 (GRCm39)	V379A	probably benign	Het
Vps13b	A	G	15: 35,910,757 (GRCm39)	D3507G	probably damaging	Het
Wfdc2	A	T	2: 164,405,362 (GRCm39)	K88*	probably null	Het
Ylpm1	C	A	12: 85,077,620 (GRCm39)	H1448Q	probably damaging	Het
Zc3h14	A	G	12: 98,751,305 (GRCm39)	K667E	probably damaging	Het

Other mutations in Or52a24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01892:Or52a24	APN	7	103,381,687 (GRCm39)	missense	possibly damaging	0.47
IGL02121:Or52a24	APN	7	103,381,676 (GRCm39)	missense	probably damaging	1.00
R0140:Or52a24	UTSW	7	103,381,349 (GRCm39)	missense	probably damaging	1.00
R0505:Or52a24	UTSW	7	103,381,583 (GRCm39)	missense	probably benign	0.09
R0582:Or52a24	UTSW	7	103,381,880 (GRCm39)	missense	possibly damaging	0.82
R1585:Or52a24	UTSW	7	103,381,585 (GRCm39)	missense	possibly damaging	0.56
R1907:Or52a24	UTSW	7	103,381,190 (GRCm39)	missense	probably damaging	1.00
R4766:Or52a24	UTSW	7	103,381,457 (GRCm39)	missense	possibly damaging	0.70
R4954:Or52a24	UTSW	7	103,381,414 (GRCm39)	missense	probably damaging	1.00
R5464:Or52a24	UTSW	7	103,381,396 (GRCm39)	missense	probably damaging	1.00
R6761:Or52a24	UTSW	7	103,381,691 (GRCm39)	missense	probably damaging	1.00
R6782:Or52a24	UTSW	7	103,381,549 (GRCm39)	missense	possibly damaging	0.67
R7015:Or52a24	UTSW	7	103,382,024 (GRCm39)	missense	probably null	0.85
R7503:Or52a24	UTSW	7	103,381,474 (GRCm39)	missense	probably damaging	1.00
R7959:Or52a24	UTSW	7	103,382,015 (GRCm39)	missense	probably damaging	1.00
R8347:Or52a24	UTSW	7	103,381,150 (GRCm39)	missense	probably benign
R8984:Or52a24	UTSW	7	103,381,220 (GRCm39)	missense	probably damaging	0.99
R9000:Or52a24	UTSW	7	103,381,672 (GRCm39)	missense	probably damaging	0.99
R9204:Or52a24	UTSW	7	103,382,056 (GRCm39)	missense	possibly damaging	0.72
X0058:Or52a24	UTSW	7	103,381,489 (GRCm39)	missense	probably damaging	1.00
Z1176:Or52a24	UTSW	7	103,381,988 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCTTCAGGCCTTCAGTGC -3'
(R):5'- CGCTGGGTAAAGATGGATGC -3'

Sequencing Primer
(F):5'- GCTGACTCTGACTGGGATTCC -3'
(R):5'- GCATGTCTTAGAGGATAACAGATTGC -3'

Posted On

2018-08-01