Mutagenetix > Incidental Mutation

Incidental Mutation 'R8774-TAIL:Or51aa2'

667972

Institutional Source

Beutler Lab

Gene Symbol

Or51aa2

Ensembl Gene

ENSMUSG00000094119

Gene Name

olfactory receptor family 51 subfamily AA member 2

Synonyms

MOR15-3, EG545985, Olfr612, GA_x6K02T2PBJ9-6251685-6250741

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R8774-TAIL

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103187468-103188439 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 103187965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 159 (V159L)

Ref Sequence

ENSEMBL: ENSMUSP00000150524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000104879] [ENSMUST00000214269] [ENSMUST00000215663]

AlphaFold

L7N462

Predicted Effect

probably benign
Transcript: ENSMUST00000104879
AA Change: V159L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000100473
Gene: ENSMUSG00000094119
AA Change: V159L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	1.3e-109	PFAM
Pfam:7TM_GPCR_Srsx	37	309	4.7e-11	PFAM
Pfam:7tm_1	43	294	3.8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214269
AA Change: V159L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000215663
AA Change: V159L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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, Feb 2010]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,090,358 (GRCm39)	S364P	possibly damaging	Het
Abcc2	T	A	19: 43,787,577 (GRCm39)	Y208N	probably damaging	Het
Acy1	A	T	9: 106,313,913 (GRCm39)	D82E	probably damaging	Het
Ankub1	A	G	3: 57,597,802 (GRCm39)	L56P	probably damaging	Het
Aoc1	T	A	6: 48,885,529 (GRCm39)	F678Y	probably damaging	Het
Asxl3	C	A	18: 22,657,101 (GRCm39)	Q1704K	probably damaging	Het
Atg9b	T	C	5: 24,595,571 (GRCm39)	D236G	probably damaging	Het
Auh	A	T	13: 52,993,631 (GRCm39)	M261K	probably benign	Het
Blm	TCC	TCCGCC	7: 80,162,655 (GRCm39)		probably benign	Het
Blm	TCC	TCCGCC	7: 80,162,667 (GRCm39)		probably benign	Het
Blm	CTC	CTCATC	7: 80,162,666 (GRCm39)		probably benign	Het
C2cd6	A	T	1: 59,099,825 (GRCm39)	M372K	possibly damaging	Het
Ccdc88b	A	T	19: 6,825,090 (GRCm39)	N1287K	probably damaging	Het
Cebpz	A	G	17: 79,229,073 (GRCm39)	S958P	probably benign	Het
Cgn	T	A	3: 94,680,810 (GRCm39)	Q576L	probably damaging	Het
Chd7	T	A	4: 8,854,692 (GRCm39)	M2011K	probably damaging	Het
Cntnap4	A	G	8: 113,529,820 (GRCm39)	E676G	probably benign	Het
Cspp1	A	T	1: 10,183,139 (GRCm39)	E781D	possibly damaging	Het
Cyb5d2	A	C	11: 72,679,901 (GRCm39)		probably null	Het
Epn3	G	T	11: 94,383,220 (GRCm39)	P335T	possibly damaging	Het
Far2	T	A	6: 148,047,629 (GRCm39)	S103T	probably benign	Het
Fhip1a	G	C	3: 85,580,097 (GRCm39)	Q703E	probably benign	Het
Fhl2	A	G	1: 43,162,751 (GRCm39)	S255P	probably damaging	Het
Fmnl2	T	A	2: 52,932,321 (GRCm39)	V100D		Het
Gabbr1	T	C	17: 37,382,749 (GRCm39)	L814P	probably damaging	Het
Gzmg	C	T	14: 56,394,193 (GRCm39)	V234I	probably benign	Het
Ift172	A	G	5: 31,415,207 (GRCm39)	V1334A	probably benign	Het
Itga8	C	G	2: 12,187,495 (GRCm39)	G728A	probably damaging	Het
Klrg1	T	C	6: 122,255,193 (GRCm39)	T80A	probably benign	Het
Lrp4	A	G	2: 91,308,043 (GRCm39)	N496S	probably benign	Het
Lsmem1	G	T	12: 40,227,145 (GRCm39)	N113K	probably damaging	Het
Map3k2	G	A	18: 32,345,117 (GRCm39)	S314N	probably damaging	Het
Mtpap	C	T	18: 4,387,032 (GRCm39)	R361*	probably null	Het
Muc5b	T	A	7: 141,418,831 (GRCm39)	S3926T	probably benign	Het
Nat10	C	A	2: 103,561,752 (GRCm39)	R643L	probably damaging	Het
Ncbp3	T	C	11: 72,938,808 (GRCm39)	V28A	probably benign	Het
Nlrp9a	T	C	7: 26,257,984 (GRCm39)	L534P	possibly damaging	Het
Nmi	T	C	2: 51,848,974 (GRCm39)	K39E	probably benign	Het
Nxpe4	A	G	9: 48,304,692 (GRCm39)	N260D	probably benign	Het
Or4k38	T	C	2: 111,166,318 (GRCm39)	Y35C	probably damaging	Het
Or6c213	T	A	10: 129,573,926 (GRCm39)	I287F	probably damaging	Het
Or8c19-ps1	G	A	9: 38,220,600 (GRCm39)	A170T	unknown	Het
Pirb	G	T	7: 3,720,728 (GRCm39)	L257M	probably damaging	Het
Plcg2	A	T	8: 118,306,585 (GRCm39)	D313V	possibly damaging	Het
Ppard	G	A	17: 28,517,864 (GRCm39)	V311I	possibly damaging	Het
Ptcd1	A	T	5: 145,092,175 (GRCm39)	M308K	probably damaging	Het
Pygo1	A	G	9: 72,852,436 (GRCm39)	N208D	possibly damaging	Het
Robo1	T	G	16: 72,832,719 (GRCm39)	D1497E	probably benign	Het
Sdk2	T	C	11: 113,730,169 (GRCm39)	D1022G	probably damaging	Het
Shc3	G	A	13: 51,615,475 (GRCm39)	H161Y	probably damaging	Het
Slc15a1	G	T	14: 121,724,423 (GRCm39)	Q150K	probably damaging	Het
Sod1	T	G	16: 90,023,039 (GRCm39)	V120G	probably damaging	Het
Spata31g1	T	C	4: 42,971,087 (GRCm39)	L140P	probably damaging	Het
Sprr2f	T	A	3: 92,273,323 (GRCm39)	C41S	unknown	Het
Svil	A	T	18: 5,049,068 (GRCm39)	Y115F	probably damaging	Het
Tdp1	T	C	12: 99,877,917 (GRCm39)	S400P	probably damaging	Het
Thbs4	A	T	13: 92,898,030 (GRCm39)	D596E	probably damaging	Het
Tshz1	T	A	18: 84,033,101 (GRCm39)	M436L	possibly damaging	Het
Ube3c	C	T	5: 29,812,029 (GRCm39)	T423I	probably benign	Het
Unc93a	A	T	17: 13,341,837 (GRCm39)	I98N	probably damaging	Het
Usp33	T	A	3: 152,085,213 (GRCm39)	Y624*	probably null	Het
Vmn1r217	T	A	13: 23,298,108 (GRCm39)	M265L	probably benign	Het
Vmn1r222	A	T	13: 23,416,418 (GRCm39)	M265K	probably benign	Het
Vmn2r16	C	T	5: 109,488,231 (GRCm39)	T368M	probably benign	Het
Zfp867	A	G	11: 59,354,837 (GRCm39)	F164S	probably damaging	Het
Zswim1	C	T	2: 164,668,062 (GRCm39)	T438I	probably benign	Het

Other mutations in Or51aa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01808:Or51aa2	APN	7	103,187,781 (GRCm39)	missense	probably damaging	1.00
IGL01901:Or51aa2	APN	7	103,188,177 (GRCm39)	missense	probably damaging	0.98
R1200:Or51aa2	UTSW	7	103,188,274 (GRCm39)	missense	probably benign	0.01
R1591:Or51aa2	UTSW	7	103,188,274 (GRCm39)	missense	probably benign	0.00
R1858:Or51aa2	UTSW	7	103,187,859 (GRCm39)	missense	probably damaging	1.00
R1975:Or51aa2	UTSW	7	103,188,201 (GRCm39)	missense	probably damaging	1.00
R1994:Or51aa2	UTSW	7	103,187,566 (GRCm39)	missense	possibly damaging	0.57
R3690:Or51aa2	UTSW	7	103,188,274 (GRCm39)	missense	probably benign	0.01
R4635:Or51aa2	UTSW	7	103,188,355 (GRCm39)	missense	probably benign	0.00
R4670:Or51aa2	UTSW	7	103,188,393 (GRCm39)	missense	possibly damaging	0.89
R5267:Or51aa2	UTSW	7	103,188,031 (GRCm39)	missense	probably benign	0.19
R5417:Or51aa2	UTSW	7	103,187,970 (GRCm39)	missense	possibly damaging	0.94
R6644:Or51aa2	UTSW	7	103,188,265 (GRCm39)	missense	possibly damaging	0.94
R7253:Or51aa2	UTSW	7	103,187,995 (GRCm39)	missense	probably benign	0.01
R7278:Or51aa2	UTSW	7	103,187,935 (GRCm39)	missense	probably benign	0.02
R7525:Or51aa2	UTSW	7	103,188,338 (GRCm39)	nonsense	probably null
R7553:Or51aa2	UTSW	7	103,188,363 (GRCm39)	missense	probably damaging	0.99
R7661:Or51aa2	UTSW	7	103,187,826 (GRCm39)	missense	probably damaging	0.99
R8379:Or51aa2	UTSW	7	103,188,183 (GRCm39)	missense	possibly damaging	0.91
R8493:Or51aa2	UTSW	7	103,187,479 (GRCm39)	missense	probably benign	0.01
R8774:Or51aa2	UTSW	7	103,187,965 (GRCm39)	missense	probably benign	0.00

Predicted Primers

Posted On

2021-03-08