Mutagenetix > Incidental Mutation

Incidental Mutation 'R0534:Or51b17'

49366

Institutional Source

Beutler Lab

Gene Symbol

Or51b17

Ensembl Gene

ENSMUSG00000063615

Gene Name

olfactory receptor family 51 subfamily B member 17

Synonyms

GA_x6K02T2PBJ9-6648196-6649143, Olfr64, 5'[b]2, MOR1-2

MMRRC Submission

038726-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

R0534 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103542017-103543678 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103542438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 168 (R168H)

Ref Sequence

ENSEMBL: ENSMUSP00000080444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081748]

AlphaFold

F8VPZ8

Predicted Effect

probably benign
Transcript: ENSMUST00000081748
AA Change: R168H

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

SMART Domains

Protein: ENSMUSP00000080444
Gene: ENSMUSG00000063615
AA Change: R168H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	307	2.4e-113	PFAM
Pfam:7TM_GPCR_Srsx	33	295	4.2e-6	PFAM
Pfam:7tm_1	39	290	1.1e-22	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

96% (47/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cand2	A	G	6: 115,764,197 (GRCm39)	M324V	probably damaging	Het
Cap1	C	T	4: 122,756,512 (GRCm39)	V340M	probably benign	Het
Ccdc110	T	C	8: 46,388,175 (GRCm39)	V44A	possibly damaging	Het
Cps1	A	G	1: 67,183,059 (GRCm39)	D139G	probably benign	Het
Cwc27	T	A	13: 104,768,124 (GRCm39)	E457V	unknown	Het
Cxxc1	C	T	18: 74,351,962 (GRCm39)	P280S	probably benign	Het
Dennd2b	A	T	7: 109,140,635 (GRCm39)	V197D	probably damaging	Het
Dop1b	T	A	16: 93,559,393 (GRCm39)	L595Q	probably benign	Het
Dscam	G	T	16: 96,453,372 (GRCm39)	S1292R	possibly damaging	Het
E2f4	C	A	8: 106,030,851 (GRCm39)	F353L	probably damaging	Het
Ep300	A	G	15: 81,485,097 (GRCm39)		probably benign	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
Fign	T	A	2: 63,811,135 (GRCm39)	H45L	probably damaging	Het
Flcn	T	A	11: 59,685,025 (GRCm39)		probably benign	Het
Gm5141	A	T	13: 62,922,408 (GRCm39)	F254I	probably damaging	Het
Gpbp1l1	T	A	4: 116,448,465 (GRCm39)	N402K	probably damaging	Het
Gpr37	A	T	6: 25,669,823 (GRCm39)	C340*	probably null	Het
Gtf3c2	A	T	5: 31,315,476 (GRCm39)		probably benign	Het
Hcfc2	T	A	10: 82,574,242 (GRCm39)	F139I	probably damaging	Het
Hectd4	T	C	5: 121,486,539 (GRCm39)	L3178P	possibly damaging	Het
Hrc	AGAGGAGGAGGAAGAGGAGGAGGA	AGAGGAGGAGGAGGAAGAGGAGGAGGA	7: 44,986,659 (GRCm39)		probably benign	Het
Igf2bp1	A	G	11: 95,857,622 (GRCm39)		probably benign	Het
Igsf9b	T	G	9: 27,244,358 (GRCm39)		probably null	Het
Il23r	G	A	6: 67,403,572 (GRCm39)	A443V	probably benign	Het
Kcnv1	A	G	15: 44,972,645 (GRCm39)	F413L	probably damaging	Het
Lipe	C	A	7: 25,087,611 (GRCm39)	A150S	possibly damaging	Het
Lrrcc1	T	C	3: 14,622,333 (GRCm39)	S557P	probably damaging	Het
Mrpl54	C	A	10: 81,102,687 (GRCm39)	W13L	probably damaging	Het
Mtcl3	T	A	10: 29,056,952 (GRCm39)		probably benign	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Npy1r	C	A	8: 67,157,670 (GRCm39)	Q327K	probably damaging	Het
Nt5el	C	A	13: 105,218,762 (GRCm39)	S32*	probably null	Het
Osbpl10	C	T	9: 114,996,246 (GRCm39)	L139F	probably damaging	Het
P2rx6	A	C	16: 17,385,768 (GRCm39)	T199P	probably damaging	Het
Phyhip	A	T	14: 70,699,199 (GRCm39)	M1L	possibly damaging	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Psmc1	T	A	12: 100,086,389 (GRCm39)	I342N	possibly damaging	Het
Reln	A	T	5: 22,152,406 (GRCm39)	D2353E	probably damaging	Het
Rmdn3	T	C	2: 118,976,851 (GRCm39)	E294G	probably benign	Het
Scnn1g	A	G	7: 121,366,647 (GRCm39)	M615V	probably benign	Het
Shcbp1l	T	A	1: 153,304,314 (GRCm39)	D124E	possibly damaging	Het
Sipa1l1	T	C	12: 82,472,054 (GRCm39)	S1345P	possibly damaging	Het
Taf7l2	T	C	10: 115,948,707 (GRCm39)	E273G	possibly damaging	Het
Timp4	A	G	6: 115,226,802 (GRCm39)	Y114H	probably damaging	Het
Tlr9	T	A	9: 106,102,086 (GRCm39)	L459Q	probably benign	Het
Tmem104	C	A	11: 115,091,654 (GRCm39)	T59K	probably damaging	Het
Wdr59	GGGTGGTG	GGGTG	8: 112,207,172 (GRCm39)		probably benign	Het
Zfp622	A	T	15: 25,984,654 (GRCm39)	I7F	possibly damaging	Het

Other mutations in Or51b17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00934:Or51b17	APN	7	103,542,071 (GRCm39)	nonsense	probably null
IGL01597:Or51b17	APN	7	103,542,303 (GRCm39)	missense	probably benign	0.01
IGL01868:Or51b17	APN	7	103,542,583 (GRCm39)	nonsense	probably null
IGL02502:Or51b17	APN	7	103,542,696 (GRCm39)	missense	probably damaging	0.99
R0294:Or51b17	UTSW	7	103,542,137 (GRCm39)	missense	probably benign	0.09
R0838:Or51b17	UTSW	7	103,542,622 (GRCm39)	missense	probably benign	0.00
R1350:Or51b17	UTSW	7	103,542,937 (GRCm39)	missense	probably benign	0.01
R1733:Or51b17	UTSW	7	103,542,118 (GRCm39)	missense	probably benign	0.40
R1768:Or51b17	UTSW	7	103,542,484 (GRCm39)	missense	probably benign	0.28
R1780:Or51b17	UTSW	7	103,542,762 (GRCm39)	missense	probably damaging	1.00
R1836:Or51b17	UTSW	7	103,542,592 (GRCm39)	missense	probably damaging	0.98
R1956:Or51b17	UTSW	7	103,542,925 (GRCm39)	missense	probably benign	0.01
R2075:Or51b17	UTSW	7	103,542,127 (GRCm39)	missense	probably damaging	0.96
R4677:Or51b17	UTSW	7	103,542,615 (GRCm39)	missense	probably damaging	1.00
R4884:Or51b17	UTSW	7	103,542,862 (GRCm39)	missense	probably benign	0.04
R4899:Or51b17	UTSW	7	103,542,672 (GRCm39)	missense	possibly damaging	0.54
R5753:Or51b17	UTSW	7	103,542,408 (GRCm39)	missense	probably damaging	1.00
R6351:Or51b17	UTSW	7	103,542,342 (GRCm39)	nonsense	probably null
R6997:Or51b17	UTSW	7	103,542,238 (GRCm39)	missense	probably benign	0.00
R8319:Or51b17	UTSW	7	103,542,636 (GRCm39)	missense	probably damaging	1.00
R8337:Or51b17	UTSW	7	103,542,256 (GRCm39)	missense	probably benign
R8984:Or51b17	UTSW	7	103,542,816 (GRCm39)	missense	probably benign	0.01
R9780:Or51b17	UTSW	7	103,542,631 (GRCm39)	missense	probably damaging	0.99
X0017:Or51b17	UTSW	7	103,542,358 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CGGAGAACGCTCCTCTGAATTTGC -3'
(R):5'- CCCTTTCCATTGTGGAGTCAGGTG -3'

Sequencing Primer
(F):5'- TGTCAGGCCAATCACAGTG -3'
(R):5'- AGTCAGGTGTCTTGCTTGCC -3'

Posted On

2013-06-12