Mutagenetix > Incidental Mutation

Incidental Mutation 'R8337:Or51q1'

644672

Institutional Source

Beutler Lab

Gene Symbol

Or51q1

Ensembl Gene

ENSMUSG00000094520

Gene Name

olfactory receptor family 51 subfamily Q member 1

Synonyms

Olfr635, GA_x6K02T2PBJ9-6713641-6714588, MOR5-2

MMRRC Submission

067800-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R8337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103628383-103629348 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 103628581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 61 (M61L)

Ref Sequence

ENSEMBL: ENSMUSP00000148103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098185] [ENSMUST00000209473]

AlphaFold

K7N6B1

Predicted Effect

probably damaging
Transcript: ENSMUST00000098185
AA Change: M67L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095788
Gene: ENSMUSG00000094520
AA Change: M67L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	39	318	1.2e-119	PFAM
Pfam:7TM_GPCR_Srsx	43	182	1.3e-9	PFAM
Pfam:7tm_1	49	300	1.9e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000209473
AA Change: M61L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (55/55)

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
2310034C09Rik	T	C	16: 88,556,151 (GRCm39)	Y122H	probably damaging	Het
Abhd14b	T	A	9: 106,327,240 (GRCm39)	H7Q	probably benign	Het
Acod1	C	T	14: 103,286,780 (GRCm39)	R28W	possibly damaging	Het
Agap2	A	G	10: 126,924,194 (GRCm39)	T803A	unknown	Het
Angptl7	T	C	4: 148,581,741 (GRCm39)	E215G	probably damaging	Het
Ankrd34c	T	A	9: 89,611,951 (GRCm39)	D130V	probably damaging	Het
BC028528	A	G	3: 95,792,298 (GRCm39)	V144A	probably benign	Het
Cab39l	T	C	14: 59,776,640 (GRCm39)	F274L	probably damaging	Het
Cdsn	T	C	17: 35,866,415 (GRCm39)	S315P	possibly damaging	Het
Celsr3	CGGGG	CGGGGG	9: 108,718,471 (GRCm39)		probably null	Het
Cep97	A	T	16: 55,735,394 (GRCm39)	L540*	probably null	Het
Chrna2	G	T	14: 66,387,017 (GRCm39)	E388*	probably null	Het
Ckap4	A	G	10: 84,364,460 (GRCm39)	V201A	probably damaging	Het
Clec4b1	A	G	6: 123,042,922 (GRCm39)	K47R	probably benign	Het
Clvs2	A	T	10: 33,404,484 (GRCm39)	I244N	possibly damaging	Het
Cmtr1	G	A	17: 29,893,151 (GRCm39)	E57K	probably benign	Het
Cxxc1	T	A	18: 74,353,910 (GRCm39)	D565E	possibly damaging	Het
Dtx3l	T	A	16: 35,754,073 (GRCm39)	M178L	probably benign	Het
Eml2	A	G	7: 18,930,161 (GRCm39)	D294G	possibly damaging	Het
Flt3	A	G	5: 147,269,698 (GRCm39)		probably null	Het
Frs3	T	A	17: 48,014,777 (GRCm39)	L490Q	probably damaging	Het
Gm6882	G	A	7: 21,161,559 (GRCm39)	T103I	possibly damaging	Het
Gsdmd	C	T	15: 75,736,270 (GRCm39)	T133I	probably benign	Het
Hhipl2	C	A	1: 183,209,540 (GRCm39)	C331*	probably null	Het
Ifnar1	C	A	16: 91,302,224 (GRCm39)	D566E	possibly damaging	Het
Ighv1-34	A	T	12: 114,814,939 (GRCm39)	N74K	probably benign	Het
Itk	T	C	11: 46,233,222 (GRCm39)		probably null	Het
Kdm7a	T	C	6: 39,122,461 (GRCm39)	D801G	probably benign	Het
Marchf1	T	C	8: 66,871,641 (GRCm39)	L139P	probably damaging	Het
Metap1d	T	C	2: 71,345,982 (GRCm39)	V181A	probably damaging	Het
Mfsd8	G	A	3: 40,789,628 (GRCm39)	R140C	probably damaging	Het
Mrps25	T	C	6: 92,152,745 (GRCm39)	T92A	probably benign	Het
Mucl3	T	C	17: 35,948,486 (GRCm39)	H371R	possibly damaging	Het
Ntng2	C	A	2: 29,138,050 (GRCm39)	M1I	probably null	Het
Or51b17	C	T	7: 103,542,256 (GRCm39)	G229R	probably benign	Het
Or8b57	T	C	9: 40,003,695 (GRCm39)	K189R	probably benign	Het
Pla2g12a	A	G	3: 129,672,465 (GRCm39)	D33G	probably damaging	Het
Prlhr	A	G	19: 60,456,284 (GRCm39)	V94A	possibly damaging	Het
Ralgapb	T	A	2: 158,292,192 (GRCm39)	S793T	probably benign	Het
Rapgef6	T	A	11: 54,522,127 (GRCm39)	L455*	probably null	Het
Sbf2	T	C	7: 110,040,669 (GRCm39)	H386R	probably benign	Het
Sec23ip	C	A	7: 128,365,749 (GRCm39)	N539K	probably damaging	Het
Shisa4	A	G	1: 135,300,907 (GRCm39)	L121P	probably damaging	Het
Slc28a2b	C	T	2: 122,355,617 (GRCm39)	T603I	probably benign	Het
Stard9	T	A	2: 120,510,306 (GRCm39)	F296I	probably damaging	Het
Strn3	T	C	12: 51,707,955 (GRCm39)	K147E	probably damaging	Het
Taf5l	T	C	8: 124,724,841 (GRCm39)	N326S	probably benign	Het
Tfb2m	T	A	1: 179,369,914 (GRCm39)	I170L	probably benign	Het
Tfec	T	C	6: 16,845,422 (GRCm39)	N79S	possibly damaging	Het
Tnn	C	T	1: 159,946,053 (GRCm39)	G922R	probably damaging	Het
Tox3	T	C	8: 91,074,507 (GRCm39)	Y24C	probably damaging	Het
Vmn2r6	A	T	3: 64,463,526 (GRCm39)	L436*	probably null	Het
Vmn2r80	A	G	10: 78,984,707 (GRCm39)	I20V	probably benign	Het
Wdr97	T	C	15: 76,245,684 (GRCm39)	V1307A		Het

Other mutations in Or51q1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Or51q1	APN	7	103,628,999 (GRCm39)	missense	probably benign	0.09
IGL01330:Or51q1	APN	7	103,629,349 (GRCm39)	utr 3 prime	probably benign
IGL01433:Or51q1	APN	7	103,628,539 (GRCm39)	missense	probably damaging	1.00
FR4304:Or51q1	UTSW	7	103,629,110 (GRCm39)	frame shift	probably null
FR4340:Or51q1	UTSW	7	103,629,110 (GRCm39)	frame shift	probably null
FR4342:Or51q1	UTSW	7	103,629,110 (GRCm39)	frame shift	probably null
R0271:Or51q1	UTSW	7	103,628,837 (GRCm39)	missense	possibly damaging	0.83
R1909:Or51q1	UTSW	7	103,628,997 (GRCm39)	nonsense	probably null
R2212:Or51q1	UTSW	7	103,628,609 (GRCm39)	missense	probably damaging	0.98
R2484:Or51q1	UTSW	7	103,628,545 (GRCm39)	missense	probably benign
R3412:Or51q1	UTSW	7	103,628,609 (GRCm39)	missense	probably damaging	0.98
R4513:Or51q1	UTSW	7	103,628,648 (GRCm39)	missense	probably benign	0.03
R4559:Or51q1	UTSW	7	103,628,767 (GRCm39)	missense	probably damaging	1.00
R5032:Or51q1	UTSW	7	103,628,581 (GRCm39)	missense	probably damaging	0.98
R5436:Or51q1	UTSW	7	103,628,473 (GRCm39)	missense	probably benign
R5591:Or51q1	UTSW	7	103,629,320 (GRCm39)	missense	probably benign	0.00
R5617:Or51q1	UTSW	7	103,628,921 (GRCm39)	missense	possibly damaging	0.91
R5911:Or51q1	UTSW	7	103,628,915 (GRCm39)	missense	probably benign
R6249:Or51q1	UTSW	7	103,628,818 (GRCm39)	missense	possibly damaging	0.85
R6275:Or51q1	UTSW	7	103,629,181 (GRCm39)	missense	probably damaging	1.00
R6806:Or51q1	UTSW	7	103,628,771 (GRCm39)	missense	possibly damaging	0.72
R7589:Or51q1	UTSW	7	103,628,998 (GRCm39)	missense	probably damaging	1.00
R8188:Or51q1	UTSW	7	103,628,743 (GRCm39)	missense	probably damaging	1.00
R9106:Or51q1	UTSW	7	103,628,581 (GRCm39)	missense	probably damaging	0.98
R9507:Or51q1	UTSW	7	103,629,198 (GRCm39)	missense	probably damaging	1.00
R9592:Or51q1	UTSW	7	103,629,179 (GRCm39)	missense	possibly damaging	0.54
RF004:Or51q1	UTSW	7	103,629,110 (GRCm39)	frame shift	probably null
RF005:Or51q1	UTSW	7	103,628,768 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATCCATCAAGTATGTCAGAAG -3'
(R):5'- ACAGATGGCCACATAACGGTC -3'

Sequencing Primer
(F):5'- TCAAGTATGTCAGAAGTAACAAACAC -3'
(R):5'- CATAACGGTCAAAGGACATGGCC -3'

Posted On

2020-09-02