Mutagenetix > Incidental Mutation

Incidental Mutation 'R5966:Or1j17'

472074

Institutional Source

Beutler Lab

Gene Symbol

Or1j17

Ensembl Gene

ENSMUSG00000094764

Gene Name

olfactory receptor family 1 subfamily J member 17

Synonyms

GA_x6K02T2NLDC-33382467-33383396, Olfr346, MOR136-11

MMRRC Submission

044151-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R5966 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36578016-36578945 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 36578074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 20 (R20L)

Ref Sequence

ENSEMBL: ENSMUSP00000077897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078854] [ENSMUST00000213258]

AlphaFold

Q8VGJ7

Predicted Effect

probably null
Transcript: ENSMUST00000078854
AA Change: R20L

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

SMART Domains

Protein: ENSMUSP00000077897
Gene: ENSMUSG00000094764
AA Change: R20L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.2e-58	PFAM
Pfam:7tm_1	41	290	1.3e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213258
AA Change: R20L

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

Validation Efficiency

94% (79/84)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930009A15Rik	A	T	10: 115,415,717 (GRCm39)		probably benign	Het
Acaa2	T	C	18: 74,937,223 (GRCm39)	L369S	probably damaging	Het
Akna	A	G	4: 63,313,140 (GRCm39)	S328P	probably damaging	Het
Albfm1	A	G	5: 90,719,546 (GRCm39)	Y214C	probably damaging	Het
Apc	A	G	18: 34,354,140 (GRCm39)		probably benign	Het
Brca2	C	T	5: 150,466,716 (GRCm39)	T2160I	probably damaging	Het
Camsap2	A	G	1: 136,204,330 (GRCm39)	S1251P	probably damaging	Het
Ccdc110	A	G	8: 46,395,573 (GRCm39)	E488G	probably damaging	Het
Ccdc158	T	A	5: 92,797,908 (GRCm39)	I411F	probably damaging	Het
Cd163	C	T	6: 124,297,595 (GRCm39)	Q914*	probably null	Het
Cd22	T	C	7: 30,566,083 (GRCm39)	D827G	probably damaging	Het
Ces1e	A	G	8: 93,946,001 (GRCm39)		probably null	Het
Col14a1	T	C	15: 55,315,779 (GRCm39)		probably null	Het
Csmd3	T	A	15: 47,713,135 (GRCm39)	D1509V	probably damaging	Het
Ddx51	A	G	5: 110,804,717 (GRCm39)	D543G	probably damaging	Het
Diaph3	T	A	14: 87,222,261 (GRCm39)	I408F	probably damaging	Het
Dld	G	A	12: 31,390,325 (GRCm39)	P213L	probably damaging	Het
Dnah6	T	C	6: 73,037,262 (GRCm39)	T3327A	probably benign	Het
Dnttip2	T	A	3: 122,078,817 (GRCm39)		probably benign	Het
Dock10	T	C	1: 80,546,225 (GRCm39)	E791G	possibly damaging	Het
Ehd3	G	T	17: 74,134,356 (GRCm39)	W238C	probably damaging	Het
Ehd3	T	G	17: 74,134,361 (GRCm39)	L240R	probably damaging	Het
Ep400	A	G	5: 110,824,766 (GRCm39)	V2357A	unknown	Het
Fam20c	T	C	5: 138,741,932 (GRCm39)	V181A	probably damaging	Het
Gm4781	T	C	10: 100,232,814 (GRCm39)		noncoding transcript	Het
Gpatch8	A	T	11: 102,371,058 (GRCm39)	S827T	unknown	Het
Grm3	A	T	5: 9,561,930 (GRCm39)	I640N	probably damaging	Het
Gstm7	A	G	3: 107,838,747 (GRCm39)		probably benign	Het
Hdac7	G	T	15: 97,700,372 (GRCm39)	H572Q	probably damaging	Het
Ift140	C	T	17: 25,313,735 (GRCm39)	Q1389*	probably null	Het
Igfn1	A	G	1: 135,893,152 (GRCm39)	V2099A	probably damaging	Het
Ik	A	G	18: 36,888,531 (GRCm39)	N443S	possibly damaging	Het
Impact	A	G	18: 13,123,601 (GRCm39)	K315E	probably benign	Het
Insr	C	A	8: 3,308,697 (GRCm39)	R113L	probably benign	Het
Jak2	T	A	19: 29,260,954 (GRCm39)	Y317N	possibly damaging	Het
Kif18a	T	A	2: 109,122,411 (GRCm39)	V162E	probably damaging	Het
L3mbtl3	A	G	10: 26,207,762 (GRCm39)	V319A	unknown	Het
Lepr	T	C	4: 101,649,324 (GRCm39)		probably benign	Het
Lmo7	C	T	14: 102,137,938 (GRCm39)	T647I	possibly damaging	Het
Mindy3	C	T	2: 12,405,854 (GRCm39)	R147Q	probably benign	Het
Mtr	T	C	13: 12,230,453 (GRCm39)		probably null	Het
Muc4	A	T	16: 32,576,652 (GRCm39)		probably benign	Het
Nrip1	G	A	16: 76,090,471 (GRCm39)	T362M	possibly damaging	Het
Or1q1	T	C	2: 36,886,957 (GRCm39)	I45T	possibly damaging	Het
Or5d45	A	G	2: 88,153,222 (GRCm39)	S276P	probably benign	Het
Ovol1	G	A	19: 5,601,630 (GRCm39)	R131C	probably damaging	Het
Pcca	T	C	14: 122,905,998 (GRCm39)	V323A	probably damaging	Het
Pcdhb14	A	T	18: 37,581,295 (GRCm39)	M134L	probably benign	Het
Pecam1	G	A	11: 106,581,887 (GRCm39)	T252M	probably benign	Het
Rnd3	T	A	2: 51,022,536 (GRCm39)	I169F	probably damaging	Het
Rnmt	T	A	18: 68,444,689 (GRCm39)	D219E	probably benign	Het
Rufy1	A	T	11: 50,292,315 (GRCm39)	F491L	probably benign	Het
Ryr2	G	T	13: 11,677,124 (GRCm39)	C3242*	probably null	Het
Smurf2	G	T	11: 106,766,727 (GRCm39)	R31S	possibly damaging	Het
Sptbn1	A	G	11: 30,074,873 (GRCm39)	I1333T	probably damaging	Het
Stard9	G	A	2: 120,527,580 (GRCm39)	C1279Y	probably damaging	Het
Sugp2	T	C	8: 70,704,753 (GRCm39)		probably null	Het
Sulf1	A	T	1: 12,929,636 (GRCm39)	D301V	probably benign	Het
Tbcd	G	T	11: 121,492,737 (GRCm39)		probably benign	Het
Tlr11	T	C	14: 50,599,712 (GRCm39)	I566T	probably benign	Het
Tm9sf2	T	A	14: 122,374,921 (GRCm39)		probably benign	Het
Tnfaip8l1	T	C	17: 56,478,799 (GRCm39)	F30L	probably benign	Het
Trav15-2-dv6-2	T	A	14: 53,887,433 (GRCm39)	C118S	probably damaging	Het
Ttc13	A	G	8: 125,408,959 (GRCm39)		probably benign	Het
Ubqln3	A	T	7: 103,790,906 (GRCm39)	S395T	probably benign	Het
Urb2	A	G	8: 124,754,827 (GRCm39)	D178G	probably benign	Het
Usf3	A	G	16: 44,041,222 (GRCm39)	I1901V	probably benign	Het
Vmn1r173	A	T	7: 23,402,112 (GRCm39)	I116F	probably benign	Het
Vmn1r69	T	A	7: 10,314,717 (GRCm39)	T5S	probably benign	Het
Wbp1l	C	T	19: 46,642,619 (GRCm39)	R191*	probably null	Het
Wfikkn2	C	T	11: 94,129,688 (GRCm39)	R151H	probably damaging	Het

Other mutations in Or1j17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01620:Or1j17	APN	2	36,578,550 (GRCm39)	missense	probably damaging	1.00
IGL01770:Or1j17	APN	2	36,578,117 (GRCm39)	missense	probably benign	0.02
IGL02110:Or1j17	APN	2	36,578,697 (GRCm39)	missense	probably benign
IGL02212:Or1j17	APN	2	36,578,194 (GRCm39)	missense	probably damaging	0.98
IGL02346:Or1j17	APN	2	36,578,016 (GRCm39)	start codon destroyed	probably benign	0.41
IGL02544:Or1j17	APN	2	36,578,848 (GRCm39)	missense	probably damaging	1.00
IGL02995:Or1j17	APN	2	36,578,644 (GRCm39)	missense	possibly damaging	0.56
IGL03154:Or1j17	APN	2	36,578,655 (GRCm39)	missense	possibly damaging	0.78
IGL03389:Or1j17	APN	2	36,578,274 (GRCm39)	missense	probably benign	0.12
R0100:Or1j17	UTSW	2	36,578,923 (GRCm39)	missense	probably benign	0.00
R0230:Or1j17	UTSW	2	36,578,628 (GRCm39)	missense	probably benign	0.01
R1559:Or1j17	UTSW	2	36,578,770 (GRCm39)	missense	probably damaging	1.00
R1560:Or1j17	UTSW	2	36,578,155 (GRCm39)	missense	probably damaging	1.00
R1614:Or1j17	UTSW	2	36,578,321 (GRCm39)	nonsense	probably null
R1697:Or1j17	UTSW	2	36,578,259 (GRCm39)	missense	probably damaging	1.00
R1738:Or1j17	UTSW	2	36,578,797 (GRCm39)	missense	probably benign	0.44
R1966:Or1j17	UTSW	2	36,578,796 (GRCm39)	missense	probably benign	0.01
R2021:Or1j17	UTSW	2	36,578,487 (GRCm39)	missense	probably benign
R2181:Or1j17	UTSW	2	36,578,346 (GRCm39)	missense	probably damaging	1.00
R4170:Or1j17	UTSW	2	36,578,734 (GRCm39)	missense	probably damaging	0.98
R4625:Or1j17	UTSW	2	36,578,083 (GRCm39)	missense	probably benign	0.06
R5081:Or1j17	UTSW	2	36,578,655 (GRCm39)	missense	possibly damaging	0.73
R5335:Or1j17	UTSW	2	36,578,106 (GRCm39)	missense	probably benign
R5978:Or1j17	UTSW	2	36,578,694 (GRCm39)	missense	probably benign	0.07
R6110:Or1j17	UTSW	2	36,578,559 (GRCm39)	missense	probably benign	0.01
R6329:Or1j17	UTSW	2	36,578,694 (GRCm39)	nonsense	probably null
R7214:Or1j17	UTSW	2	36,578,107 (GRCm39)	missense	probably benign	0.35
R7301:Or1j17	UTSW	2	36,578,023 (GRCm39)	missense	probably benign
R7382:Or1j17	UTSW	2	36,578,046 (GRCm39)	nonsense	probably null
R7979:Or1j17	UTSW	2	36,578,106 (GRCm39)	missense	probably benign	0.03
R8218:Or1j17	UTSW	2	36,578,685 (GRCm39)	missense	probably benign	0.12
R8501:Or1j17	UTSW	2	36,578,809 (GRCm39)	missense	probably benign	0.00
R9406:Or1j17	UTSW	2	36,578,296 (GRCm39)	missense	possibly damaging	0.93
R9623:Or1j17	UTSW	2	36,578,778 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- GTCCTCATACTTGGATTAAAACCCC -3'
(R):5'- TGTCAGCATATTCACAAGCATC -3'

Sequencing Primer
(F):5'- TCATACTTGGATTAAAACCCCCAAAC -3'
(R):5'- CATCCTTGGAACAGTGACTGATG -3'

Posted On

2017-03-31