Mutagenetix > Incidental Mutation

Incidental Mutation 'R1697:Or1j17'

192303

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

039730-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R1697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36578016-36578945 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36578259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 82 (L82F)

Ref Sequence

ENSEMBL: ENSMUSP00000149916 (fasta)

Gene Model

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

AlphaFold

Q8VGJ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000078854
AA Change: L82F

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

SMART Domains

Protein: ENSMUSP00000077897
Gene: ENSMUSG00000094764
AA Change: L82F

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 damaging
Transcript: ENSMUST00000213258
AA Change: L82F

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (67/68)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 60,992,928 (GRCm39)	D250E	probably damaging	Het
4930571K23Rik	A	G	7: 124,968,201 (GRCm39)		noncoding transcript	Het
Acsl3	T	C	1: 78,683,114 (GRCm39)		probably benign	Het
Acsl6	C	A	11: 54,220,792 (GRCm39)	T244K	probably damaging	Het
Adam26b	T	A	8: 43,974,000 (GRCm39)	N334I	probably damaging	Het
Adgrl4	C	T	3: 151,223,248 (GRCm39)	T608M	probably damaging	Het
Aldh2	A	G	5: 121,716,404 (GRCm39)		probably null	Het
Alms1	A	G	6: 85,599,436 (GRCm39)	T1890A	possibly damaging	Het
Capn7	C	T	14: 31,082,117 (GRCm39)	T441M	probably damaging	Het
Cd9	A	T	6: 125,441,367 (GRCm39)	C85S	probably damaging	Het
Chrm3	T	C	13: 9,928,794 (GRCm39)	T81A	probably damaging	Het
Ctif	A	G	18: 75,757,376 (GRCm39)		probably benign	Het
Dcc	T	A	18: 71,503,808 (GRCm39)	D950V	probably damaging	Het
Eif4g1	T	C	16: 20,498,530 (GRCm39)	V422A	probably damaging	Het
Enthd1	A	G	15: 80,337,124 (GRCm39)	S437P	probably damaging	Het
Fads1	A	G	19: 10,171,464 (GRCm39)		probably benign	Het
Fat3	T	A	9: 15,856,176 (GRCm39)	I3869L	probably benign	Het
Fbxw5	T	A	2: 25,392,473 (GRCm39)	V85E	possibly damaging	Het
Fcgbpl1	T	A	7: 27,853,772 (GRCm39)	C1579S	probably damaging	Het
Fem1b	T	C	9: 62,704,456 (GRCm39)	D268G	possibly damaging	Het
Focad	T	C	4: 88,327,225 (GRCm39)	L1772P	probably damaging	Het
Gtf3a	C	A	5: 146,888,723 (GRCm39)	Q145K	possibly damaging	Het
Hacl1	T	C	14: 31,342,957 (GRCm39)		probably null	Het
Herc2	T	A	7: 55,803,653 (GRCm39)	F2229L	probably benign	Het
Hs3st4	A	T	7: 123,996,080 (GRCm39)	I249L	probably benign	Het
Iqsec1	A	T	6: 90,786,752 (GRCm39)	Y7*	probably null	Het
Irag2	A	G	6: 145,083,341 (GRCm39)		probably benign	Het
Klk1b1	T	A	7: 43,619,750 (GRCm39)	M103K	probably benign	Het
Krt5	A	G	15: 101,619,020 (GRCm39)	V287A	probably benign	Het
Lgals12	T	A	19: 7,581,530 (GRCm39)	Q59L	possibly damaging	Het
Loxl4	A	G	19: 42,593,379 (GRCm39)	V264A	possibly damaging	Het
Lrp1b	T	C	2: 40,712,695 (GRCm39)	D3099G	probably damaging	Het
Mical3	G	A	6: 120,984,369 (GRCm39)	T169I	possibly damaging	Het
Muc21	A	C	17: 35,931,540 (GRCm39)		probably benign	Het
Myef2l	G	A	3: 10,154,613 (GRCm39)	V461I	possibly damaging	Het
Myh7b	A	C	2: 155,462,054 (GRCm39)	S317R	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nsd1	A	T	13: 55,361,872 (GRCm39)		probably null	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or2t49	A	T	11: 58,392,502 (GRCm39)	S293R	probably damaging	Het
Or5h22	A	G	16: 58,895,270 (GRCm39)	Y58H	probably damaging	Het
Or5i1	T	A	2: 87,612,929 (GRCm39)	I15N	possibly damaging	Het
Or6c2b	T	C	10: 128,947,737 (GRCm39)	T186A	probably benign	Het
Pcnx2	A	G	8: 126,577,087 (GRCm39)	Y982H	probably damaging	Het
Pias3	T	C	3: 96,609,541 (GRCm39)	L312P	probably damaging	Het
Plekhm1	G	A	11: 103,267,710 (GRCm39)	P754S	probably damaging	Het
Ppp2r5c	T	A	12: 110,512,057 (GRCm39)	L145*	probably null	Het
Ppp2r5c	T	A	12: 110,527,906 (GRCm39)		probably benign	Het
Pramel29	A	C	4: 143,935,162 (GRCm39)	I193S	probably damaging	Het
Proser3	T	C	7: 30,239,446 (GRCm39)	M553V	probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Smurf2	A	T	11: 106,715,514 (GRCm39)	D664E	possibly damaging	Het
Spag9	G	A	11: 93,887,391 (GRCm39)	A99T	probably benign	Het
Stim1	T	G	7: 102,003,713 (GRCm39)	C49G	probably damaging	Het
Stk32c	T	C	7: 138,701,740 (GRCm39)	I238V	probably benign	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tfb2m	T	A	1: 179,372,464 (GRCm39)	E133V	probably null	Het
Tmem209	A	T	6: 30,497,867 (GRCm39)	C143S	probably benign	Het
Tnr	T	G	1: 159,679,600 (GRCm39)	N191K	probably benign	Het
Vars1	C	T	17: 35,217,198 (GRCm39)	A419T	probably benign	Het
Vmn2r111	T	C	17: 22,767,041 (GRCm39)	S819G	probably benign	Het
Wls	T	C	3: 159,602,995 (GRCm39)	V136A	probably benign	Het
Ybx2	C	T	11: 69,830,887 (GRCm39)	S217L	probably benign	Het
Zfp82	T	C	7: 29,756,779 (GRCm39)	D37G	probably benign	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
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
R5966:Or1j17	UTSW	2	36,578,074 (GRCm39)	missense	probably null	0.00
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'- AAGCTGTGTACTCTGCCCTGATCC -3'
(R):5'- TCAGAATGGTGACACCAATGTAGCC -3'

Sequencing Primer
(F):5'- GCTCATCATCCTGCTCATCA -3'
(R):5'- TGGTGACACCAATGTAGCCATAAG -3'

Posted On

2014-05-14