Mutagenetix > Incidental Mutation

Incidental Mutation 'R5574:Or52a5b'

437112

Institutional Source

Beutler Lab

Gene Symbol

Or52a5b

Ensembl Gene

ENSMUSG00000058662

Gene Name

olfactory receptor family 52 subfamily A member 5B

Synonyms

MOR22-2, GA_x6K02T2PBJ9-6494485-6493535, 3'[b]3, Olfr69

MMRRC Submission

043129-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R5574 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103416484-103420801 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 103417323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 94 (I94L)

Ref Sequence

ENSEMBL: ENSMUSP00000102491 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106878]

AlphaFold

E9Q7C5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106878
AA Change: I94L

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102491
Gene: ENSMUSG00000058662
AA Change: I94L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	313	1.9e-101	PFAM
Pfam:7TM_GPCR_Srx	34	237	1.1e-7	PFAM
Pfam:7TM_GPCR_Srsx	37	260	3.6e-7	PFAM
Pfam:7tm_1	43	295	6.6e-15	PFAM

Meta Mutation Damage Score

0.1577

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

99% (68/69)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	T	A	14: 59,380,205 (GRCm39)	N31I	possibly damaging	Het
Acvr1b	T	A	15: 101,099,958 (GRCm39)	M304K	probably benign	Het
Adamts1	G	T	16: 85,596,530 (GRCm39)	D106E	probably damaging	Het
Atosa	A	T	9: 74,917,672 (GRCm39)	D757V	probably damaging	Het
Blm	C	A	7: 80,149,521 (GRCm39)	C696F	probably damaging	Het
Bnip3l-ps	T	A	12: 18,267,119 (GRCm39)		noncoding transcript	Het
Ccdc171	A	T	4: 83,611,990 (GRCm39)	N895I	probably damaging	Het
Cdhr4	A	T	9: 107,870,527 (GRCm39)		probably benign	Het
Cfap97	T	C	8: 46,623,179 (GRCm39)	S190P	probably damaging	Het
Chrnb1	A	C	11: 69,684,509 (GRCm39)		probably benign	Het
Clns1a	A	G	7: 97,370,165 (GRCm39)		probably benign	Het
Col8a2	G	A	4: 126,205,061 (GRCm39)		probably benign	Het
Cr2	T	A	1: 194,823,544 (GRCm39)	E721V	probably damaging	Het
Csk	A	G	9: 57,536,584 (GRCm39)	V172A	probably benign	Het
Cyp2g1	G	A	7: 26,520,165 (GRCm39)	V466M	possibly damaging	Het
Cyp4f13	A	G	17: 33,148,179 (GRCm39)	Y349H	probably benign	Het
Dnm1l	T	C	16: 16,147,685 (GRCm39)	Y205C	probably damaging	Het
Dync1i2	A	T	2: 71,063,994 (GRCm39)	T113S	probably benign	Het
Edem2	T	C	2: 155,558,075 (GRCm39)	E186G	probably damaging	Het
Eya2	G	A	2: 165,605,736 (GRCm39)	R380H	probably damaging	Het
Gldn	A	G	9: 54,220,206 (GRCm39)	T132A	probably damaging	Het
Gm13941	A	T	2: 110,930,951 (GRCm39)	I74K	unknown	Het
Gm3898	C	T	9: 43,741,339 (GRCm39)		noncoding transcript	Het
Ighmbp2	C	T	19: 3,321,536 (GRCm39)	V408I	probably benign	Het
Klhdc10	C	T	6: 30,439,864 (GRCm39)	L127F	possibly damaging	Het
Letm1	G	A	5: 33,926,730 (GRCm39)	T189M	possibly damaging	Het
Lrrc17	A	T	5: 21,775,355 (GRCm39)	I306F	possibly damaging	Het
Lrrk2	T	A	15: 91,671,219 (GRCm39)	V2000E	probably damaging	Het
Mettl9	A	T	7: 120,647,093 (GRCm39)	E66D	probably benign	Het
Mroh1	T	A	15: 76,318,131 (GRCm39)	V877D	probably benign	Het
Mycbp2	C	T	14: 103,380,203 (GRCm39)	V3760M	possibly damaging	Het
Nos3	A	G	5: 24,573,859 (GRCm39)	T208A	possibly damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Obp2a	A	T	2: 25,590,842 (GRCm39)	T70S	possibly damaging	Het
Or4a72	C	T	2: 89,405,321 (GRCm39)	V250I	possibly damaging	Het
Or5al6	T	C	2: 85,976,535 (GRCm39)	D181G	probably damaging	Het
Or8b8	A	T	9: 37,808,877 (GRCm39)	Y59F	probably damaging	Het
Or8h10	A	G	2: 86,808,867 (GRCm39)	V91A	probably benign	Het
Pate2	A	G	9: 35,597,411 (GRCm39)		probably benign	Het
Pdzph1	A	G	17: 59,280,942 (GRCm39)	F447L	probably benign	Het
Pias1	A	G	9: 62,827,775 (GRCm39)	C211R	probably damaging	Het
Plb1	A	G	5: 32,487,291 (GRCm39)	S929G	probably benign	Het
Pramel32	T	G	4: 88,546,280 (GRCm39)	E354A	probably benign	Het
Prc1	G	A	7: 79,944,290 (GRCm39)		probably benign	Het
Prex2	A	G	1: 11,210,282 (GRCm39)	D574G	probably damaging	Het
Rapgef4	G	A	2: 71,864,464 (GRCm39)		probably null	Het
Rmc1	CTGTGTGTT	CTGTGTGTTGTGTGTT	18: 12,318,063 (GRCm39)		probably null	Het
Rock2	T	C	12: 17,011,642 (GRCm39)	M690T	possibly damaging	Het
Sinhcaf	C	T	6: 148,846,378 (GRCm39)		probably benign	Het
Slc18a2	A	G	19: 59,249,837 (GRCm39)	I25V	probably benign	Het
Slc9a5	T	A	8: 106,091,323 (GRCm39)	I701K	probably benign	Het
Sorcs1	T	A	19: 50,210,571 (GRCm39)	N765Y	probably damaging	Het
Ssh2	A	T	11: 77,340,941 (GRCm39)	I698L	probably benign	Het
Stam	A	G	2: 14,120,675 (GRCm39)	D58G	probably damaging	Het
Thsd4	C	A	9: 59,879,683 (GRCm39)	R1018L	probably damaging	Het
Tnxb	A	G	17: 34,929,998 (GRCm39)	T2911A	probably benign	Het
Trpm7	A	C	2: 126,654,950 (GRCm39)	F1329L	probably benign	Het
Ttll9	A	G	2: 152,826,168 (GRCm39)	E126G	possibly damaging	Het
Tubgcp5	G	A	7: 55,455,077 (GRCm39)	V258M	probably benign	Het
Unc45a	G	A	7: 79,984,604 (GRCm39)	A232V	probably damaging	Het
Utp14b	G	A	1: 78,644,126 (GRCm39)	V675M	probably damaging	Het
Vmn2r67	T	A	7: 84,801,099 (GRCm39)	H279L	probably benign	Het
Vmn2r75	G	T	7: 85,815,510 (GRCm39)	A118E	probably benign	Het
Wdr36	A	T	18: 32,999,012 (GRCm39)	Q886L	probably damaging	Het
Zfp433	T	A	10: 81,555,125 (GRCm39)	Y27*	probably null	Het
Zfp715	A	T	7: 42,960,463 (GRCm39)	S43T	possibly damaging	Het
Zfyve26	A	G	12: 79,286,698 (GRCm39)	S2297P	possibly damaging	Het

Other mutations in Or52a5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03381:Or52a5b	APN	7	103,417,044 (GRCm39)	missense	probably benign	0.00
R0314:Or52a5b	UTSW	7	103,417,388 (GRCm39)	missense	probably damaging	1.00
R2158:Or52a5b	UTSW	7	103,417,168 (GRCm39)	nonsense	probably null
R4839:Or52a5b	UTSW	7	103,416,961 (GRCm39)	missense	possibly damaging	0.94
R6025:Or52a5b	UTSW	7	103,417,416 (GRCm39)	missense	probably benign	0.01
R6581:Or52a5b	UTSW	7	103,417,428 (GRCm39)	missense	probably benign	0.01
R6792:Or52a5b	UTSW	7	103,417,346 (GRCm39)	missense	possibly damaging	0.75
R7121:Or52a5b	UTSW	7	103,416,940 (GRCm39)	nonsense	probably null
R7178:Or52a5b	UTSW	7	103,417,182 (GRCm39)	nonsense	probably null
R7378:Or52a5b	UTSW	7	103,417,137 (GRCm39)	missense	probably benign	0.01
R7449:Or52a5b	UTSW	7	103,417,026 (GRCm39)	missense	probably benign
R7573:Or52a5b	UTSW	7	103,416,677 (GRCm39)	missense	probably benign
R9206:Or52a5b	UTSW	7	103,417,478 (GRCm39)	missense	probably benign	0.00
R9208:Or52a5b	UTSW	7	103,417,478 (GRCm39)	missense	probably benign	0.00
R9536:Or52a5b	UTSW	7	103,416,779 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGACCTCAGTAATGCACCAG -3'
(R):5'- CTGGAATCAGTGCAGTGCTG -3'

Sequencing Primer
(F):5'- GTAATGCACCAGCTCCAAGG -3'
(R):5'- CAGTGCTGGATTGGAATTCCATTC -3'

Posted On

2016-10-26