Mutagenetix > Incidental Mutation

Incidental Mutation 'R4954:Or52a24'

381486

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

042551-MU

Accession Numbers

Essential gene?

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

Stock #

R4954 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103381135-103382085 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103381414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 94 (I94V)

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: I94V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095795
Gene: ENSMUSG00000096516
AA Change: I94V

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: I94V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.1172

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (66/66)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,875,169 (GRCm39)	H668Y	probably benign	Het
Alk	C	T	17: 72,209,687 (GRCm39)	W919*	probably null	Het
Aoc3	G	A	11: 101,222,925 (GRCm39)	G387D	probably damaging	Het
Arhgap26	T	A	18: 39,376,694 (GRCm39)	C441S	probably benign	Het
Arhgap28	C	A	17: 68,176,008 (GRCm39)	E100*	probably null	Het
Ate1	C	T	7: 130,110,748 (GRCm39)	G186D	probably benign	Het
Birc6	T	A	17: 74,919,026 (GRCm39)	L1948H	probably damaging	Het
Bmp2k	C	T	5: 97,234,623 (GRCm39)		probably benign	Het
Ccin	A	T	4: 43,985,077 (GRCm39)	I495F	probably benign	Het
Cir1	T	A	2: 73,140,848 (GRCm39)	E40D	probably benign	Het
Cyp3a57	A	T	5: 145,307,765 (GRCm39)		probably null	Het
Dennd1b	A	G	1: 138,981,124 (GRCm39)	T113A	probably damaging	Het
Dnah2	G	A	11: 69,430,322 (GRCm39)	P79S	possibly damaging	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Dync2i1	T	C	12: 116,219,645 (GRCm39)	D99G	probably damaging	Het
Enpep	A	T	3: 129,077,829 (GRCm39)	I596N	probably damaging	Het
Eps15	G	A	4: 109,227,875 (GRCm39)		probably null	Het
Ext1	T	C	15: 53,207,888 (GRCm39)	D291G	probably damaging	Het
Gm12883	T	C	4: 121,252,198 (GRCm39)		noncoding transcript	Het
Gm9921	A	G	12: 45,484,383 (GRCm39)		noncoding transcript	Het
H2-T22	C	A	17: 36,352,851 (GRCm39)	W85C	probably damaging	Het
Heatr1	G	A	13: 12,422,397 (GRCm39)		probably null	Het
Hspa4l	T	A	3: 40,739,832 (GRCm39)		probably null	Het
Kcnc3	CTT	CT	7: 44,240,720 (GRCm39)		probably null	Het
Kpna1	T	C	16: 35,853,696 (GRCm39)	V442A	probably damaging	Het
Mogat2	T	C	7: 98,887,724 (GRCm39)	T17A	possibly damaging	Het
Musk	C	T	4: 58,344,222 (GRCm39)	T285I	probably damaging	Het
Myorg	G	A	4: 41,498,241 (GRCm39)	A463V	possibly damaging	Het
Nbea	T	G	3: 55,943,379 (GRCm39)	Q632P	probably damaging	Het
Ncoa3	T	C	2: 165,907,706 (GRCm39)	V1105A	probably benign	Het
Neb	T	C	2: 52,067,530 (GRCm39)		probably null	Het
Nlrp4e	A	T	7: 23,061,318 (GRCm39)	K970*	probably null	Het
Oog2	A	T	4: 143,917,302 (GRCm39)		probably benign	Het
Or13g1	T	C	7: 85,955,809 (GRCm39)	I171V	probably benign	Het
Or2a57	A	G	6: 43,213,318 (GRCm39)	M259V	probably benign	Het
Otos	T	C	1: 92,572,167 (GRCm39)	Y53C	probably damaging	Het
Oxct2a	A	T	4: 123,216,252 (GRCm39)	C376*	probably null	Het
Pate12	A	T	9: 36,344,156 (GRCm39)	K46N	probably benign	Het
Phf14	C	A	6: 11,987,619 (GRCm39)	Q633K	probably benign	Het
Pkdrej	T	A	15: 85,700,602 (GRCm39)	N1778I	probably damaging	Het
Psmc3	C	T	2: 90,885,974 (GRCm39)		probably benign	Het
Rbm33	A	T	5: 28,544,274 (GRCm39)	I177F	probably damaging	Het
Rps6ka2	A	G	17: 7,539,003 (GRCm39)	D307G	probably benign	Het
Rps6ka2	G	A	17: 7,566,685 (GRCm39)	V648I	probably benign	Het
Scn11a	C	T	9: 119,587,725 (GRCm39)	V1340M	possibly damaging	Het
Sema7a	T	C	9: 57,863,663 (GRCm39)	W279R	probably damaging	Het
Slc2a10	A	T	2: 165,356,675 (GRCm39)	I112F	probably damaging	Het
Stk4	C	A	2: 163,993,601 (GRCm39)	S77R	possibly damaging	Het
Stk4	T	A	2: 163,993,602 (GRCm39)	W78R	probably damaging	Het
Syf2	T	A	4: 134,662,283 (GRCm39)	L99*	probably null	Het
Tas2r104	A	T	6: 131,661,968 (GRCm39)	I247K	probably damaging	Het
Usp15	G	T	10: 122,967,303 (GRCm39)	R368S	probably damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Vmn2r2	T	A	3: 64,047,905 (GRCm39)	L20F	probably benign	Het
Zcchc4	A	T	5: 52,976,559 (GRCm39)	H451L	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
R5464:Or52a24	UTSW	7	103,381,396 (GRCm39)	missense	probably damaging	1.00
R6737:Or52a24	UTSW	7	103,381,357 (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'- ACTCTGACTGGGATTCCTGG -3'
(R):5'- CTACAAACAGGGCTGCTCTG -3'

Sequencing Primer
(F):5'- TCTGTATCATGTACATCATTGCAC -3'
(R):5'- GAGTGTGACTCCTACTCCTATTTGAG -3'

Posted On

2016-04-27