Mutagenetix > Incidental Mutation

Incidental Mutation 'R4714:Or1j1'

353415

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

041956-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.255) question?

Stock #

R4714 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36702161-36703102 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36703047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 19 (I19N)

Ref Sequence

ENSEMBL: ENSMUSP00000149118 (fasta)

Gene Model

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

AlphaFold

Q60879

Predicted Effect

probably benign
Transcript: ENSMUST00000100151
AA Change: I19N

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097728
Gene: ENSMUSG00000075384
AA Change: I19N

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

noncoding transcript
Transcript: ENSMUST00000120418

Predicted Effect

probably benign
Transcript: ENSMUST00000213988
AA Change: I19N

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.7%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4930486L24Rik	A	G	13: 60,992,132 (GRCm39)	V298A	probably damaging	Het
Abca12	A	G	1: 71,360,609 (GRCm39)	V534A	probably benign	Het
Abcb4	A	G	5: 8,980,906 (GRCm39)		probably null	Het
Adam30	A	T	3: 98,070,170 (GRCm39)	S668C	probably damaging	Het
Ap1g1	T	A	8: 110,556,252 (GRCm39)	V196D	probably damaging	Het
Atp11b	G	A	3: 35,888,543 (GRCm39)	V738I	probably benign	Het
Cast	C	T	13: 74,946,834 (GRCm39)	V27I	probably damaging	Het
Cfap54	A	G	10: 92,651,780 (GRCm39)	I3090T	probably benign	Het
Cgn	C	A	3: 94,686,748 (GRCm39)	G185W	probably damaging	Het
Champ1	T	C	8: 13,928,063 (GRCm39)	Y74H	probably damaging	Het
Cpm	T	C	10: 117,511,890 (GRCm39)	I278T	probably damaging	Het
Dcaf15	T	C	8: 84,828,845 (GRCm39)	T141A	probably benign	Het
Dcun1d1	C	T	3: 35,949,819 (GRCm39)	V244M	probably damaging	Het
Defb8	A	G	8: 19,497,575 (GRCm39)	L12P	probably damaging	Het
Dlg1	A	T	16: 31,609,079 (GRCm39)	I225F	probably damaging	Het
Dync2h1	G	T	9: 7,118,932 (GRCm39)	H2178N	possibly damaging	Het
Enam	A	G	5: 88,651,395 (GRCm39)	E893G	probably damaging	Het
Flt4	T	A	11: 49,518,034 (GRCm39)	L358Q	probably damaging	Het
Frmpd1	A	G	4: 45,284,785 (GRCm39)	Q1202R	probably benign	Het
Ghr	T	A	15: 3,349,879 (GRCm39)	D433V	possibly damaging	Het
Grm7	G	A	6: 111,057,383 (GRCm39)	D328N	possibly damaging	Het
Haus4	T	C	14: 54,779,577 (GRCm39)	D349G	probably benign	Het
Helz	T	C	11: 107,517,542 (GRCm39)		probably null	Het
Hif3a	A	G	7: 16,790,196 (GRCm39)	L69P	probably damaging	Het
Ifit1	A	G	19: 34,625,563 (GRCm39)	E233G	probably damaging	Het
Kcnc2	T	C	10: 112,291,733 (GRCm39)	F307S	possibly damaging	Het
Lrp1b	A	T	2: 41,000,771 (GRCm39)	V2151E	possibly damaging	Het
Lrp5	T	C	19: 3,709,454 (GRCm39)	N92S	probably damaging	Het
Metrnl	C	T	11: 121,606,839 (GRCm39)	A216V	probably damaging	Het
Msh2	A	G	17: 88,026,217 (GRCm39)	T732A	probably damaging	Het
Necab2	T	C	8: 120,194,334 (GRCm39)	L270P	probably damaging	Het
Noc3l	T	C	19: 38,804,157 (GRCm39)	K74E	probably benign	Het
Oas2	A	T	5: 120,871,537 (GRCm39)	L702Q	probably damaging	Het
Or2n1d	A	C	17: 38,646,731 (GRCm39)	I228L	possibly damaging	Het
Or4k1	A	G	14: 50,377,436 (GRCm39)	I220T	possibly damaging	Het
Or4k6	C	A	14: 50,475,824 (GRCm39)	V173L	possibly damaging	Het
Or6c216	A	T	10: 129,678,814 (GRCm39)	N32K	probably damaging	Het
Pax6	A	G	2: 105,525,745 (GRCm39)	H376R	possibly damaging	Het
Pnkd	C	T	1: 74,390,941 (GRCm39)	R376C	probably damaging	Het
Pnpla8	T	C	12: 44,342,696 (GRCm39)	F484S	probably damaging	Het
Psme4	T	A	11: 30,782,573 (GRCm39)	H909Q	probably benign	Het
Rasip1	CGG	CGGG	7: 45,281,820 (GRCm39)		probably null	Het
Rbm47	A	T	5: 66,182,395 (GRCm39)	Y413N	probably damaging	Het
Rnf123	A	G	9: 107,929,638 (GRCm39)		probably null	Het
Ruvbl1	T	A	6: 88,461,412 (GRCm39)	M259K	possibly damaging	Het
Sohlh2	A	G	3: 55,097,950 (GRCm39)	H134R	probably benign	Het
Sorbs2	A	G	8: 46,248,330 (GRCm39)	D447G	possibly damaging	Het
Tank	C	T	2: 61,480,573 (GRCm39)	P370S	probably benign	Het
Tenm4	A	G	7: 96,544,131 (GRCm39)	E2049G	probably damaging	Het
Tnik	A	G	3: 28,648,226 (GRCm39)	H426R	possibly damaging	Het
Trpm6	C	A	19: 18,831,564 (GRCm39)	S1476R	possibly damaging	Het
Trpm7	G	A	2: 126,682,703 (GRCm39)	Q389*	probably null	Het
Ttc28	G	A	5: 111,433,095 (GRCm39)	R2043Q	possibly damaging	Het
Tymp	A	G	15: 89,260,510 (GRCm39)	S103P	probably damaging	Het
Usp40	C	T	1: 87,894,901 (GRCm39)		probably null	Het
Vmn1r202	T	A	13: 22,685,977 (GRCm39)	N147Y	probably damaging	Het
Vmn2r89	T	C	14: 51,689,688 (GRCm39)	S64P	probably damaging	Het
Vps13a	A	T	19: 16,727,220 (GRCm39)	D229E	probably benign	Het
Vps52	A	G	17: 34,180,153 (GRCm39)	I354V	probably benign	Het
Zbtb8os	T	C	4: 129,235,557 (GRCm39)	F90L	probably damaging	Het
Zfp36l1	T	C	12: 80,157,270 (GRCm39)	D37G	possibly damaging	Het
Zfp467	A	G	6: 48,404,751 (GRCm39)	S109P	unknown	Het
Zzef1	T	A	11: 72,728,038 (GRCm39)	C535S	probably damaging	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
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
R7353:Or1j1	UTSW	2	36,702,915 (GRCm39)	missense	probably damaging	1.00
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'- TCTTCGGGACAGTGACAGATG -3'
(R):5'- TACAGAGACTGGGATCAGACTG -3'

Sequencing Primer
(F):5'- TCTTCGGGACAGTGACAGATGAAAAG -3'
(R):5'- TTCTCCACAATATTTGCAGCAAAAC -3'

Posted On

2015-10-21