Mutagenetix > Incidental Mutation

Incidental Mutation 'R7003:Or1j1'

544644

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

045108-MU

Accession Numbers

Essential gene?

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

Stock #

R7003 (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 36703047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 19 (I19T)

Ref Sequence

ENSEMBL: ENSMUSP00000149118 (fasta)

Gene Model

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

AlphaFold

Q60879

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100151
AA Change: I19T

PolyPhen 2 Score 0.512 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097728
Gene: ENSMUSG00000075384
AA Change: I19T

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

possibly damaging
Transcript: ENSMUST00000213988
AA Change: I19T

PolyPhen 2 Score 0.512 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,392,490 (GRCm39)	I275N	probably damaging	Het
Actr3b	A	C	5: 26,003,461 (GRCm39)	Y21S	probably damaging	Het
Adam6b	C	T	12: 113,453,662 (GRCm39)	Q160*	probably null	Het
Adgrv1	C	T	13: 81,670,223 (GRCm39)		probably null	Het
Akr1c6	A	G	13: 4,504,514 (GRCm39)	N300D	probably benign	Het
Alox8	T	C	11: 69,082,416 (GRCm39)	D170G	possibly damaging	Het
Amhr2	A	G	15: 102,354,768 (GRCm39)	N40S	probably benign	Het
Ap2a2	A	G	7: 141,209,109 (GRCm39)	N767S	probably benign	Het
Armc3	T	C	2: 19,274,839 (GRCm39)	I358T	probably damaging	Het
Atg2b	A	G	12: 105,620,508 (GRCm39)	S732P	probably benign	Het
Atp12a	A	G	14: 56,610,837 (GRCm39)	Y327C	possibly damaging	Het
Bcr	T	C	10: 74,897,393 (GRCm39)	V179A	probably benign	Het
Cep104	T	C	4: 154,078,018 (GRCm39)	L642P	probably benign	Het
Clspn	T	A	4: 126,486,513 (GRCm39)	S1302R	possibly damaging	Het
Cmip	T	C	8: 118,111,727 (GRCm39)	F153L	probably benign	Het
Cplane1	T	G	15: 8,258,246 (GRCm39)	L2164R	probably damaging	Het
D630039A03Rik	T	C	4: 57,910,521 (GRCm39)	D97G	probably damaging	Het
Dok7	A	T	5: 35,236,899 (GRCm39)	T396S	probably benign	Het
Dsel	C	T	1: 111,788,025 (GRCm39)	V837I	probably benign	Het
Etl4	C	T	2: 20,810,695 (GRCm39)	T926I	probably benign	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gpr155	A	G	2: 73,173,961 (GRCm39)	I816T	probably damaging	Het
Hpn	C	T	7: 30,810,367 (GRCm39)		probably benign	Het
Inpp5e	A	G	2: 26,287,877 (GRCm39)	S640P	probably benign	Het
Irs3	C	T	5: 137,643,539 (GRCm39)	V82I	probably benign	Het
Kif16b	A	C	2: 142,600,749 (GRCm39)	D461E	possibly damaging	Het
Krba1	A	G	6: 48,390,014 (GRCm39)	T592A	possibly damaging	Het
Lgsn	T	A	1: 31,243,024 (GRCm39)	S369T	possibly damaging	Het
Lrrc4b	C	T	7: 44,094,580 (GRCm39)	P83S	probably damaging	Het
Mplkipl1	A	G	19: 61,164,319 (GRCm39)	S39P	possibly damaging	Het
Neil3	T	C	8: 54,054,001 (GRCm39)	T343A	possibly damaging	Het
Nt5e	A	G	9: 88,246,805 (GRCm39)	Y347C	probably damaging	Het
Or2d3b	A	T	7: 106,514,319 (GRCm39)	T305S	probably benign	Het
Or2f2	C	T	6: 42,767,399 (GRCm39)	T142I	probably benign	Het
Or8g26	A	T	9: 39,096,239 (GRCm39)	Y255F	probably benign	Het
P2rx5	T	C	11: 73,058,800 (GRCm39)		probably null	Het
Phtf2	A	G	5: 20,999,399 (GRCm39)	V248A	probably benign	Het
Plekhd1	T	C	12: 80,768,734 (GRCm39)	C406R	possibly damaging	Het
Plod3	T	A	5: 137,018,498 (GRCm39)	N245K	probably damaging	Het
Polr3c	G	T	3: 96,630,954 (GRCm39)	H155Q	possibly damaging	Het
Psap	T	A	10: 60,135,276 (GRCm39)	C317S	probably damaging	Het
Rif1	A	G	2: 51,967,001 (GRCm39)	I97V	probably benign	Het
Rnf123	T	A	9: 107,940,882 (GRCm39)		probably null	Het
Rnf19a	G	A	15: 36,254,650 (GRCm39)	R303*	probably null	Het
Sdk1	G	A	5: 142,082,489 (GRCm39)	V1036I	probably benign	Het
Shc3	T	A	13: 51,620,588 (GRCm39)	Y146F	probably benign	Het
Skint6	A	G	4: 112,963,109 (GRCm39)	Y441H	probably benign	Het
Slc7a12	T	C	3: 14,570,580 (GRCm39)	I173T	probably damaging	Het
Spesp1	A	T	9: 62,189,302 (GRCm39)	S15T	possibly damaging	Het
Tarm1	A	T	7: 3,545,939 (GRCm39)		probably null	Het
Tenm3	T	C	8: 48,693,479 (GRCm39)	Y1817C	probably damaging	Het
Ttc9c	A	T	19: 8,795,904 (GRCm39)	L45Q	probably damaging	Het
Ube3a	C	T	7: 58,926,188 (GRCm39)	T322I	probably damaging	Het
Vac14	T	A	8: 111,439,430 (GRCm39)	V669E	probably damaging	Het
Vmn1r225	A	G	17: 20,723,416 (GRCm39)	M286V	probably null	Het
Zfp658	A	G	7: 43,224,172 (GRCm39)	K816E	possibly damaging	Het
Zfp846	T	C	9: 20,499,188 (GRCm39)	M1T	probably null	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
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'- ATCTTCGGGACAGTGACAGATG -3'
(R):5'- TTACAGAGACTGGGATCAGACTG -3'

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

Posted On

2019-05-13