Mutagenetix > Incidental Mutation

Incidental Mutation 'R1738:Or1j17'

199833

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

039770-MU

Accession Numbers

Essential gene?

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

Stock #

R1738 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36578016-36578945 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36578797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 261 (V261A)

Ref Sequence

ENSEMBL: ENSMUSP00000149916 (fasta)

Gene Model

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

AlphaFold

Q8VGJ7

Predicted Effect

probably benign
Transcript: ENSMUST00000078854
AA Change: V261A

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000077897
Gene: ENSMUSG00000094764
AA Change: V261A

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: V261A

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.7%
20x: 89.9%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,682,475 (GRCm39)	Y202C	probably damaging	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adgrl3	T	G	5: 81,535,826 (GRCm39)	M155R	probably damaging	Het
Ak9	A	T	10: 41,211,917 (GRCm39)	Q218L	possibly damaging	Het
Akap13	G	A	7: 75,326,942 (GRCm39)	G647D	probably damaging	Het
Angptl3	A	G	4: 98,921,499 (GRCm39)	T206A	probably benign	Het
Arhgap19	A	G	19: 41,772,820 (GRCm39)	I291T	probably benign	Het
BC049715	C	T	6: 136,817,306 (GRCm39)	P182L	probably damaging	Het
Bsn	T	C	9: 107,984,133 (GRCm39)	D3307G	unknown	Het
Cby2	C	T	14: 75,830,497 (GRCm39)	M1I	probably null	Het
Ces2h	T	A	8: 105,745,697 (GRCm39)		probably null	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Col4a2	T	A	8: 11,496,238 (GRCm39)	F1620I	probably damaging	Het
Col6a3	T	C	1: 90,744,083 (GRCm39)	E88G	probably damaging	Het
Coro6	A	G	11: 77,360,251 (GRCm39)	D407G	probably benign	Het
Cpe	A	T	8: 65,064,475 (GRCm39)	F241L	probably damaging	Het
Csde1	A	G	3: 102,936,493 (GRCm39)		probably benign	Het
Cspg4b	T	G	13: 113,504,034 (GRCm39)	L179R	possibly damaging	Het
Dgki	A	G	6: 37,034,367 (GRCm39)	I361T	possibly damaging	Het
Dnah3	A	G	7: 119,634,582 (GRCm39)	V1298A	probably damaging	Het
Duox2	T	A	2: 122,123,895 (GRCm39)	I430F	probably damaging	Het
Gak	T	C	5: 108,764,842 (GRCm39)	Y153C	probably damaging	Het
Gal3st2	T	A	1: 93,802,318 (GRCm39)		probably null	Het
Gbp11	T	C	5: 105,474,510 (GRCm39)	N389D	probably benign	Het
Grm1	A	G	10: 10,812,163 (GRCm39)	V287A	probably damaging	Het
Hsp90ab1	T	C	17: 45,882,732 (GRCm39)	K36E	probably damaging	Het
Il24	T	A	1: 130,815,099 (GRCm39)		probably null	Het
Ino80d	T	C	1: 63,132,624 (GRCm39)	D13G	probably damaging	Het
Ipp	G	A	4: 116,387,618 (GRCm39)	V399I	probably benign	Het
Kank3	A	T	17: 34,036,168 (GRCm39)	D12V	probably damaging	Het
Lcn12	A	T	2: 25,383,263 (GRCm39)	S74R	probably damaging	Het
Mast3	T	C	8: 71,237,200 (GRCm39)	T637A	probably benign	Het
Nes	C	A	3: 87,883,728 (GRCm39)	Y662*	probably null	Het
Nudt13	A	T	14: 20,359,762 (GRCm39)	H163L	probably damaging	Het
Or4a2	T	C	2: 89,248,362 (GRCm39)	T132A	probably benign	Het
Or4p7	G	A	2: 88,221,671 (GRCm39)	V27I	probably benign	Het
Or8k1	A	T	2: 86,048,060 (GRCm39)		probably null	Het
Pde6b	C	T	5: 108,578,425 (GRCm39)	R788*	probably null	Het
Pex13	A	G	11: 23,599,458 (GRCm39)	L351P	probably benign	Het
Phc1	A	G	6: 122,295,525 (GRCm39)	M942T	probably damaging	Het
Plch1	A	T	3: 63,626,659 (GRCm39)	D571E	probably benign	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Plekhh2	A	G	17: 84,874,125 (GRCm39)	N470S	possibly damaging	Het
Primpol	A	G	8: 47,060,873 (GRCm39)	S82P	probably damaging	Het
Prkg1	T	C	19: 30,764,322 (GRCm39)	D256G	possibly damaging	Het
Prune2	A	G	19: 17,102,374 (GRCm39)	E2511G	probably benign	Het
Rassf8	T	C	6: 145,761,034 (GRCm39)	I120T	probably benign	Het
Rfx4	G	A	10: 84,716,839 (GRCm39)		probably null	Het
Rtp2	A	T	16: 23,746,423 (GRCm39)	N69K	probably benign	Het
Sh3d19	A	T	3: 86,027,913 (GRCm39)	I597F	probably damaging	Het
Sorl1	T	A	9: 42,001,261 (GRCm39)	E246D	probably benign	Het
Tet2	T	A	3: 133,187,148 (GRCm39)	I1094L	probably benign	Het
Tlr4	A	T	4: 66,759,313 (GRCm39)	H702L	probably benign	Het
Tnfrsf14	T	C	4: 155,009,788 (GRCm39)	D47G	probably damaging	Het
Ttn	T	C	2: 76,777,157 (GRCm39)	Y1415C	probably damaging	Het
Vmn2r17	T	A	5: 109,576,377 (GRCm39)	F416Y	probably benign	Het
Vmn2r54	A	G	7: 12,369,815 (GRCm39)	S83P	probably benign	Het
Vtn	A	G	11: 78,390,422 (GRCm39)	D53G	possibly damaging	Het
Vwde	A	T	6: 13,190,723 (GRCm39)	V456D	probably damaging	Het
Wdr91	G	A	6: 34,861,243 (GRCm39)	P653L	probably damaging	Het
Ythdf1	G	A	2: 180,553,285 (GRCm39)	A283V	probably benign	Het
Zfp975	C	A	7: 42,312,373 (GRCm39)	W80L	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
R1697:Or1j17	UTSW	2	36,578,259 (GRCm39)	missense	probably damaging	1.00
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'- GTCAAGCTCAGACACCAGCATCAAT -3'
(R):5'- TGAATGTGAAGCTAATGAACCCCATCC -3'

Sequencing Primer
(F):5'- CATCCTTGTTTTAGGTAATGTGGTC -3'
(R):5'- CTGAGAAAGTGGCATTTCTCC -3'

Posted On

2014-05-23