Mutagenetix > Incidental Mutation

Incidental Mutation 'R5881:Or51b6'

454421

Institutional Source

Beutler Lab

Gene Symbol

Or51b6

Ensembl Gene

ENSMUSG00000110259

Gene Name

olfactory receptor family 51 subfamily B member 6

Synonyms

MOR1-2, Olfr65, 5'[b]3, GA_x6K02T2PBJ9-6634906-6633983

MMRRC Submission

044085-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R5881 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103555549-103556654 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103555883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 79 (M79K)

Ref Sequence

ENSEMBL: ENSMUSP00000147914 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106864] [ENSMUST00000209528] [ENSMUST00000214300]

AlphaFold

A0A1B0GSF4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106864
AA Change: M76K

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102477
Gene: ENSMUSG00000110259
AA Change: M76K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	310	2.1e-113	PFAM
Pfam:7TM_GPCR_Srsx	36	300	5.6e-7	PFAM
Pfam:7tm_1	42	293	5.9e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000209528
AA Change: M79K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214300
AA Change: M76K

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 99.9%
3x: 99.3%
10x: 94.5%
20x: 78.4%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	A	C	11: 95,725,213 (GRCm39)	L159W	probably damaging	Het
Abi3	A	T	11: 95,725,214 (GRCm39)	L159M	probably damaging	Het
Adam11	A	C	11: 102,664,636 (GRCm39)	I406L	probably benign	Het
Ager	G	T	17: 34,819,051 (GRCm39)	V300L	probably damaging	Het
Ank3	C	T	10: 69,822,660 (GRCm39)	S1726L	probably benign	Het
Boc	A	G	16: 44,311,014 (GRCm39)	I740T	probably damaging	Het
C8a	T	A	4: 104,711,129 (GRCm39)	D178V	probably damaging	Het
Ces3a	G	A	8: 105,777,198 (GRCm39)	V174M	probably damaging	Het
Cisd1	A	T	10: 71,172,244 (GRCm39)	W13R	probably damaging	Het
Commd8	A	T	5: 72,320,107 (GRCm39)	D111E	probably benign	Het
Ddx60	A	T	8: 62,490,104 (GRCm39)	D1691V	probably damaging	Het
Desi2	A	G	1: 178,065,479 (GRCm39)	Y15C	probably damaging	Het
Dnmt1	A	G	9: 20,864,013 (GRCm39)	V24A	probably damaging	Het
Dock10	G	A	1: 80,538,640 (GRCm39)	T968M	probably benign	Het
Dsel	A	T	1: 111,787,168 (GRCm39)	F1122L	probably damaging	Het
Eml3	T	C	19: 8,910,807 (GRCm39)	F220L	probably damaging	Het
Entpd2	A	C	2: 25,290,824 (GRCm39)	N443H	probably damaging	Het
Epgn	A	G	5: 91,176,222 (GRCm39)	N36S	probably benign	Het
Fsip2	G	T	2: 82,814,785 (GRCm39)	S3506I	possibly damaging	Het
Gprin3	T	C	6: 59,331,771 (GRCm39)	S179G	probably benign	Het
Grifin	G	T	5: 140,549,342 (GRCm39)	H125N	possibly damaging	Het
H1f9	A	G	11: 94,858,989 (GRCm39)	T95A	possibly damaging	Het
Hmcn1	A	G	1: 150,506,078 (GRCm39)	V3816A	probably damaging	Het
Hspa14	A	G	2: 3,499,207 (GRCm39)	F196L	probably benign	Het
Ice1	T	C	13: 70,754,620 (GRCm39)	K489E	probably benign	Het
Jmjd6	C	T	11: 116,730,682 (GRCm39)	W117*	probably null	Het
Lrit2	G	T	14: 36,794,192 (GRCm39)	A419S	probably benign	Het
Mc3r	T	C	2: 172,091,092 (GRCm39)	S105P	probably benign	Het
Mccc1	A	G	3: 36,018,531 (GRCm39)	V601A	probably benign	Het
Myo1f	A	G	17: 33,795,627 (GRCm39)	D91G	probably damaging	Het
Myo1f	G	A	17: 33,799,259 (GRCm39)	E255K	possibly damaging	Het
Necap1	T	A	6: 122,858,503 (GRCm39)	D115E	probably benign	Het
Or4b12	A	T	2: 90,096,786 (GRCm39)		probably null	Het
Or4k15b	G	A	14: 50,272,444 (GRCm39)	R139C	probably benign	Het
Papln	A	G	12: 83,818,652 (GRCm39)	E78G	probably null	Het
Phldb3	T	C	7: 24,326,147 (GRCm39)		probably null	Het
Pkd1l2	A	G	8: 117,724,321 (GRCm39)	I2394T	probably damaging	Het
Ppa2	A	T	3: 133,036,200 (GRCm39)	N118I	probably damaging	Het
Ppef2	A	T	5: 92,398,388 (GRCm39)	C43*	probably null	Het
Pramel51	A	G	12: 88,143,111 (GRCm39)	L169P	probably damaging	Het
Rab27a	G	A	9: 72,992,321 (GRCm39)		probably null	Het
Rabgap1l	A	T	1: 160,169,683 (GRCm39)	F47I	probably damaging	Het
Rala	A	G	13: 18,067,746 (GRCm39)	I95T	probably damaging	Het
Rgl2	A	G	17: 34,151,691 (GRCm39)	D245G	probably benign	Het
Rnf34	A	T	5: 123,002,146 (GRCm39)	T35S	probably damaging	Het
Ros1	C	T	10: 52,057,894 (GRCm39)	R51Q	probably benign	Het
Samd9l	T	C	6: 3,372,716 (GRCm39)	D1515G	possibly damaging	Het
Scn7a	T	C	2: 66,505,870 (GRCm39)	E1673G	probably benign	Het
Slc6a20a	A	C	9: 123,470,773 (GRCm39)		probably null	Het
Tdrd5	A	T	1: 156,122,070 (GRCm39)	S280T	probably damaging	Het
Tent2	A	T	13: 93,312,246 (GRCm39)	C180*	probably null	Het
Tie1	T	C	4: 118,332,800 (GRCm39)	I911V	possibly damaging	Het
Vipas39	G	A	12: 87,298,581 (GRCm39)	R194*	probably null	Het
Ybx3	A	C	6: 131,345,451 (GRCm39)	N307K	possibly damaging	Het
Ylpm1	A	T	12: 85,088,899 (GRCm39)	H1216L	probably damaging	Het

Other mutations in Or51b6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01079:Or51b6	APN	7	103,555,669 (GRCm39)	missense	probably benign
IGL02830:Or51b6	APN	7	103,555,651 (GRCm39)	missense	probably benign	0.32
IGL03238:Or51b6	APN	7	103,555,717 (GRCm39)	missense	probably benign
R0674:Or51b6	UTSW	7	103,556,462 (GRCm39)	missense	probably benign	0.01
R1711:Or51b6	UTSW	7	103,555,906 (GRCm39)	missense	probably damaging	1.00
R2018:Or51b6	UTSW	7	103,556,249 (GRCm39)	missense	possibly damaging	0.88
R2363:Or51b6	UTSW	7	103,556,267 (GRCm39)	missense	probably benign	0.19
R2968:Or51b6	UTSW	7	103,556,519 (GRCm39)	missense	probably benign	0.01
R2970:Or51b6	UTSW	7	103,556,519 (GRCm39)	missense	probably benign	0.01
R3746:Or51b6	UTSW	7	103,556,267 (GRCm39)	missense	probably benign	0.19
R4928:Or51b6	UTSW	7	103,555,879 (GRCm39)	missense	probably damaging	1.00
R5092:Or51b6	UTSW	7	103,556,406 (GRCm39)	nonsense	probably null
R5635:Or51b6	UTSW	7	103,555,845 (GRCm39)	missense	probably benign	0.05
R5963:Or51b6	UTSW	7	103,556,168 (GRCm39)	missense	probably benign	0.02
R5969:Or51b6	UTSW	7	103,556,117 (GRCm39)	missense	probably damaging	0.98
R6859:Or51b6	UTSW	7	103,555,908 (GRCm39)	nonsense	probably null
R7857:Or51b6	UTSW	7	103,555,817 (GRCm39)	missense
R8065:Or51b6	UTSW	7	103,555,610 (GRCm39)	start gained	probably benign
R8067:Or51b6	UTSW	7	103,555,610 (GRCm39)	start gained	probably benign
R8381:Or51b6	UTSW	7	103,556,146 (GRCm39)	missense
R8501:Or51b6	UTSW	7	103,555,818 (GRCm39)	missense
R8737:Or51b6	UTSW	7	103,555,913 (GRCm39)	missense
R8796:Or51b6	UTSW	7	103,556,201 (GRCm39)	missense
R9007:Or51b6	UTSW	7	103,556,165 (GRCm39)	missense
R9455:Or51b6	UTSW	7	103,556,200 (GRCm39)	missense
R9591:Or51b6	UTSW	7	103,556,470 (GRCm39)	missense
X0065:Or51b6	UTSW	7	103,556,423 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGGAGAAAGCCCATCACC -3'
(R):5'- GATTGACAGACCAGCCCTCATC -3'

Sequencing Primer
(F):5'- TGGAGAAAGCCCATCACCTGATC -3'
(R):5'- ACCTTAGTATCTGTAAGGATGGTG -3'

Posted On

2017-02-10