Mutagenetix > Incidental Mutation

Incidental Mutation 'R7353:Or1j1'

570710

Institutional Source

Beutler Lab

Gene Symbol

Or1j1

Ensembl Gene

ENSMUSG00000075384

Gene Name

olfactory receptor family 1 subfamily J member 1

Synonyms

GA_x6K02T2NLDC-33507606-33506665, Olfr3, MOR136-14, Y71

MMRRC Submission

045439-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.251) question?

Stock #

R7353 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36702161-36703102 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36702915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 63 (L63P)

Ref Sequence

ENSEMBL: ENSMUSP00000149118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100151] [ENSMUST00000213988]

AlphaFold

Q60879

Predicted Effect

probably damaging
Transcript: ENSMUST00000100151
AA Change: L63P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097728
Gene: ENSMUSG00000075384
AA Change: L63P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.3e-61	PFAM
Pfam:7TM_GPCR_Srsx	35	220	2.9e-7	PFAM
Pfam:7tm_1	41	290	6.3e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213988
AA Change: L63P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	A	13: 119,624,714 (GRCm39)	A11S	unknown	Het
Aadacl4	G	A	4: 144,344,490 (GRCm39)	V89I	probably damaging	Het
Abcc9	T	A	6: 142,546,731 (GRCm39)	I1369F	probably damaging	Het
Adgrf3	T	A	5: 30,403,495 (GRCm39)	I427F	probably damaging	Het
Alox12e	T	C	11: 70,212,261 (GRCm39)	Y139C	probably damaging	Het
Arhgef2	T	A	3: 88,542,993 (GRCm39)	V397E	possibly damaging	Het
Arhgef28	T	A	13: 98,211,710 (GRCm39)	Y91F	probably damaging	Het
Bcar3	A	G	3: 122,306,341 (GRCm39)	T454A	probably benign	Het
Bicc1	G	T	10: 70,783,730 (GRCm39)	T469K	probably benign	Het
Boc	C	T	16: 44,306,100 (GRCm39)	V1070M	unknown	Het
Ccdc88a	T	A	11: 29,413,368 (GRCm39)	N635K	probably benign	Het
Ccr2	T	C	9: 123,906,793 (GRCm39)	S358P	probably damaging	Het
Ccser2	T	C	14: 36,663,100 (GRCm39)	Q28R	possibly damaging	Het
Cenpf	T	A	1: 189,386,335 (GRCm39)	K1982*	probably null	Het
Csn1s2a	A	T	5: 87,933,161 (GRCm39)	I137F	possibly damaging	Het
Cttnbp2	A	T	6: 18,375,943 (GRCm39)	I1532K	possibly damaging	Het
Dnajc13	C	A	9: 104,107,230 (GRCm39)	R304L	possibly damaging	Het
Dop1a	T	A	9: 86,394,912 (GRCm39)	M664K	probably damaging	Het
Emilin3	T	A	2: 160,750,741 (GRCm39)	E336V	probably damaging	Het
Eml5	A	G	12: 98,791,683 (GRCm39)	Y63H		Het
Fbxo41	G	T	6: 85,456,958 (GRCm39)	R404S	possibly damaging	Het
Gpr155	A	T	2: 73,197,835 (GRCm39)	Y456*	probably null	Het
Gpr156	T	A	16: 37,812,523 (GRCm39)	N286K	probably damaging	Het
Kcna5	A	G	6: 126,511,808 (GRCm39)	S107P	probably benign	Het
Kcne2	A	T	16: 92,093,710 (GRCm39)	H79L	possibly damaging	Het
Kcnh4	T	A	11: 100,648,025 (GRCm39)	M113L	probably benign	Het
Lad1	T	A	1: 135,755,513 (GRCm39)	L263Q	probably damaging	Het
Lctl	G	A	9: 64,034,249 (GRCm39)	G296D	probably damaging	Het
Lmtk3	A	T	7: 45,437,424 (GRCm39)	I205F	possibly damaging	Het
Magel2	G	T	7: 62,029,079 (GRCm39)	R661L	unknown	Het
Mcm10	G	A	2: 5,011,920 (GRCm39)	P180S	possibly damaging	Het
Mia3	G	T	1: 183,108,247 (GRCm39)	A446D		Het
N4bp2	G	A	5: 65,963,714 (GRCm39)	V588M	probably benign	Het
Naip6	C	T	13: 100,436,259 (GRCm39)	V755M	probably benign	Het
Neurl1a	T	C	19: 47,229,099 (GRCm39)	V213A	probably damaging	Het
Nrdc	A	G	4: 108,896,946 (GRCm39)	T522A	probably damaging	Het
Ntng1	T	C	3: 110,042,763 (GRCm39)	Q21R	probably damaging	Het
Nup160	T	C	2: 90,534,296 (GRCm39)	L707S	probably damaging	Het
Oas2	A	T	5: 120,876,587 (GRCm39)	V452D	probably damaging	Het
Or10a3n	A	G	7: 108,493,429 (GRCm39)	F67L	probably damaging	Het
Or1j4	A	T	2: 36,740,081 (GRCm39)	M8L	probably benign	Het
Or1n1	G	A	2: 36,749,680 (GRCm39)	R227*	probably null	Het
Or52s1	A	C	7: 102,861,516 (GRCm39)	T150P	probably damaging	Het
Plekhg1	A	T	10: 3,914,327 (GRCm39)	T1405S		Het
Pnrc1	G	A	4: 33,248,300 (GRCm39)	P33L	probably damaging	Het
Prkag2	A	T	5: 25,085,684 (GRCm39)	V312E	possibly damaging	Het
Rps17	T	A	7: 80,994,093 (GRCm39)	E76V	possibly damaging	Het
Rsph10b	G	A	5: 143,904,038 (GRCm39)	G672S	possibly damaging	Het
Slc2a13	T	C	15: 91,205,807 (GRCm39)	N460S	probably benign	Het
Slco2b1	A	T	7: 99,339,764 (GRCm39)	C56S	possibly damaging	Het
Speer1f	G	A	5: 11,466,403 (GRCm39)	D7N	possibly damaging	Het
Spn	T	C	7: 126,736,178 (GRCm39)	T110A	probably benign	Het
Sult2a8	T	C	7: 14,147,640 (GRCm39)	N217S	possibly damaging	Het
Tbx2	C	A	11: 85,724,315 (GRCm39)	T128N	probably damaging	Het
Tecpr2	A	T	12: 110,934,278 (GRCm39)	M1313L	probably benign	Het
Tmc2	G	A	2: 130,038,497 (GRCm39)		probably null	Het
Tstd1	G	T	1: 171,247,523 (GRCm39)	A69S	probably damaging	Het
Txnrd3	A	G	6: 89,638,567 (GRCm39)	D252G	probably benign	Het
Ulk2	T	C	11: 61,710,174 (GRCm39)	N345D	probably damaging	Het
Unc13c	T	C	9: 73,481,355 (GRCm39)	D1694G	probably benign	Het
Vill	T	C	9: 118,894,561 (GRCm39)	V406A	probably damaging	Het
Vmn2r115	T	C	17: 23,564,887 (GRCm39)	V258A	possibly damaging	Het
Vmn2r82	T	A	10: 79,232,452 (GRCm39)	M817K	probably benign	Het
Xpnpep3	T	C	15: 81,315,088 (GRCm39)	S263P	probably benign	Het
Zfp980	A	G	4: 145,428,714 (GRCm39)	D481G	probably benign	Het
Zmpste24	A	G	4: 120,952,778 (GRCm39)	S81P	probably damaging	Het
Znrf4	A	G	17: 56,819,169 (GRCm39)	V46A	probably benign	Het

Other mutations in Or1j1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01523:Or1j1	APN	2	36,702,415 (GRCm39)	missense	probably benign
R0501:Or1j1	UTSW	2	36,702,492 (GRCm39)	nonsense	probably null
R0519:Or1j1	UTSW	2	36,702,627 (GRCm39)	missense	probably damaging	1.00
R0890:Or1j1	UTSW	2	36,702,586 (GRCm39)	missense	probably benign	0.06
R1353:Or1j1	UTSW	2	36,702,926 (GRCm39)	missense	possibly damaging	0.59
R1543:Or1j1	UTSW	2	36,703,069 (GRCm39)	missense	probably damaging	1.00
R3435:Or1j1	UTSW	2	36,702,690 (GRCm39)	missense	probably benign	0.06
R4378:Or1j1	UTSW	2	36,702,481 (GRCm39)	missense	probably benign
R4585:Or1j1	UTSW	2	36,702,537 (GRCm39)	missense	probably damaging	1.00
R4586:Or1j1	UTSW	2	36,702,537 (GRCm39)	missense	probably damaging	1.00
R4626:Or1j1	UTSW	2	36,702,271 (GRCm39)	missense	probably damaging	0.98
R4714:Or1j1	UTSW	2	36,703,047 (GRCm39)	missense	probably benign	0.37
R4720:Or1j1	UTSW	2	36,702,484 (GRCm39)	missense	probably benign	0.03
R5390:Or1j1	UTSW	2	36,702,444 (GRCm39)	missense	probably benign
R5659:Or1j1	UTSW	2	36,702,966 (GRCm39)	missense	probably damaging	1.00
R5681:Or1j1	UTSW	2	36,702,693 (GRCm39)	missense	probably benign	0.18
R6750:Or1j1	UTSW	2	36,702,954 (GRCm39)	missense	possibly damaging	0.90
R7003:Or1j1	UTSW	2	36,703,047 (GRCm39)	missense	possibly damaging	0.51
R7514:Or1j1	UTSW	2	36,702,651 (GRCm39)	missense	probably benign	0.03
R8094:Or1j1	UTSW	2	36,702,330 (GRCm39)	missense	probably damaging	1.00
R8298:Or1j1	UTSW	2	36,703,038 (GRCm39)	missense	probably benign	0.02
R9189:Or1j1	UTSW	2	36,702,214 (GRCm39)	missense	possibly damaging	0.79
R9577:Or1j1	UTSW	2	36,702,567 (GRCm39)	missense	probably damaging	1.00
R9622:Or1j1	UTSW	2	36,702,621 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACAGATGGCCATGTACCTG -3'
(R):5'- CCCAGCTGCTACATAAGTATGAG -3'

Sequencing Primer
(F):5'- CAGATGGCCATGTACCTGTCATAG -3'
(R):5'- CTCAAGAACCATAGCAGTGTGTCTG -3'

Posted On

2019-09-13