Mutagenetix > Incidental Mutation

Incidental Mutation 'R8319:Or51b17'

641857

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

067856-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R8319 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103542017-103543678 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103542636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 102 (I102T)

Ref Sequence

ENSEMBL: ENSMUSP00000080444 (fasta)

Gene Model

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

AlphaFold

F8VPZ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000081748
AA Change: I102T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080444
Gene: ENSMUSG00000063615
AA Change: I102T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	T	13: 59,838,486 (GRCm39)	D115E	probably benign	Het
Abcc1	T	A	16: 14,214,315 (GRCm39)	L197Q	probably damaging	Het
Adamts14	T	G	10: 61,057,706 (GRCm39)	N547T	probably benign	Het
Ampd3	T	A	7: 110,394,982 (GRCm39)	S301R	probably benign	Het
Atg9a	G	A	1: 75,162,342 (GRCm39)	Q523*	probably null	Het
Atl1	A	T	12: 70,002,093 (GRCm39)	T351S	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Cacna1c	T	C	6: 118,614,735 (GRCm39)	I1315V		Het
Col12a1	C	T	9: 79,555,979 (GRCm39)	G2013R	probably damaging	Het
Cpne2	A	G	8: 95,280,040 (GRCm39)	D153G	probably benign	Het
Cryzl1	T	C	16: 91,489,251 (GRCm39)	S205G	probably benign	Het
Cux1	C	T	5: 136,594,251 (GRCm39)	A5T	probably benign	Het
Ddx60	T	C	8: 62,395,669 (GRCm39)		probably null	Het
Dnajc13	G	A	9: 104,067,590 (GRCm39)	P1190S	probably benign	Het
Fbxw7	T	A	3: 84,881,859 (GRCm39)	V526E		Het
Fig4	C	A	10: 41,139,097 (GRCm39)	G369C	probably damaging	Het
Gabra1	C	T	11: 42,026,315 (GRCm39)	A326T	probably damaging	Het
Gbe1	G	A	16: 70,284,964 (GRCm39)	G429S	probably benign	Het
Gtf3c5	A	T	2: 28,460,506 (GRCm39)	H364Q	probably benign	Het
Hcfc2	T	A	10: 82,574,201 (GRCm39)	I125N	probably damaging	Het
Hnrnpul1	A	T	7: 25,453,902 (GRCm39)	D53E	probably benign	Het
Ift56	T	A	6: 38,382,880 (GRCm39)	H338Q	probably damaging	Het
Il18	A	T	9: 50,492,818 (GRCm39)	D128V	possibly damaging	Het
Intu	T	A	3: 40,608,202 (GRCm39)	S71R	probably damaging	Het
Klhl6	T	C	16: 19,775,940 (GRCm39)	E206G	possibly damaging	Het
Lcor	T	A	19: 41,571,343 (GRCm39)	S179T	probably damaging	Het
Mcub	A	G	3: 129,727,328 (GRCm39)	F93L	probably damaging	Het
Mdga2	T	C	12: 67,267,803 (GRCm39)	Y5C	unknown	Het
Naip1	C	A	13: 100,565,721 (GRCm39)	V354L	probably benign	Het
Naip5	A	G	13: 100,358,167 (GRCm39)	V1023A	probably benign	Het
Ndufaf1	A	G	2: 119,490,568 (GRCm39)	L166P	probably damaging	Het
Ninl	A	T	2: 150,801,827 (GRCm39)	L147H	probably damaging	Het
Or4c12	A	G	2: 89,774,024 (GRCm39)	V145A	possibly damaging	Het
Otogl	C	T	10: 107,689,127 (GRCm39)		probably null	Het
Otulin	AT	ATT	15: 27,606,404 (GRCm39)		probably null	Het
Phf11b	A	C	14: 59,576,146 (GRCm39)	L30R	probably damaging	Het
Prdm13	G	T	4: 21,679,327 (GRCm39)	H388N	unknown	Het
Pwwp2b	T	C	7: 138,835,099 (GRCm39)	V180A	probably damaging	Het
Reep4	T	A	14: 70,783,951 (GRCm39)	S23T	probably damaging	Het
Rusc2	T	A	4: 43,425,378 (GRCm39)	L1161Q	probably damaging	Het
Scgb1b3	G	A	7: 31,075,404 (GRCm39)		probably null	Het
Scn10a	G	T	9: 119,499,455 (GRCm39)	N279K	probably benign	Het
Smurf2	A	G	11: 106,715,578 (GRCm39)	L643S	probably damaging	Het
Sox12	G	A	2: 152,239,192 (GRCm39)	P143S	unknown	Het
Specc1	C	T	11: 62,009,501 (GRCm39)	T339I	possibly damaging	Het
Tas2r139	T	C	6: 42,118,720 (GRCm39)	V284A	probably benign	Het
Thumpd3	T	A	6: 113,040,107 (GRCm39)	C330*	probably null	Het
Ttn	A	G	2: 76,537,298 (GRCm39)	S34877P	possibly damaging	Het
Zfp568	T	C	7: 29,697,629 (GRCm39)	S104P	possibly damaging	Het
Zfp933	G	A	4: 147,912,910 (GRCm39)	H50Y	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
R0534:Or51b17	UTSW	7	103,542,438 (GRCm39)	missense	probably benign	0.00
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
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'- CATCTTGGTGGAGGCAGAAG -3'
(R):5'- GTGCTTCTGGGCAATGGTAC -3'

Sequencing Primer
(F):5'- CATGGGAACGGCAATATGAGAACC -3'
(R):5'- GGTACACTTCTCTACCTCATCAAG -3'

Posted On

2020-07-28