Mutagenetix > Incidental Mutation

Incidental Mutation 'R7097:Or1j18'

550539

Institutional Source

Beutler Lab

Gene Symbol

Or1j18

Ensembl Gene

ENSMUSG00000111863

Gene Name

olfactory receptor family 1 subfamily J member 18

Synonyms

MOR136-9, Olfr347, GA_x6K02T2NLDC-33428755-33429693

MMRRC Submission

045189-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R7097 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36624335-36625273 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 36624436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 34 (M34I)

Ref Sequence

ENSEMBL: ENSMUSP00000151158 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078761] [ENSMUST00000216882]

AlphaFold

Q8VGK2

Predicted Effect

probably benign
Transcript: ENSMUST00000078761
AA Change: M34I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000077819
Gene: ENSMUSG00000111863
AA Change: M34I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4.2e-58	PFAM
Pfam:7TM_GPCR_Srsx	35	305	1.3e-5	PFAM
Pfam:7tm_1	41	290	1.9e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216882
AA Change: M34I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.0632

Coding Region Coverage

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

Validation Efficiency

99% (75/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	G	17: 9,224,052 (GRCm39)	N435S	probably damaging	Het
Aip	A	T	19: 4,165,381 (GRCm39)	V195E	probably benign	Het
Amer3	A	T	1: 34,627,869 (GRCm39)	I703F	probably benign	Het
Amfr	T	C	8: 94,738,637 (GRCm39)	E7G	probably benign	Het
Angel1	A	G	12: 86,773,158 (GRCm39)	S4P	probably damaging	Het
Atp2c1	A	G	9: 105,341,850 (GRCm39)	I146T	probably damaging	Het
Atp6v0e	A	G	17: 26,914,390 (GRCm39)	T72A	probably benign	Het
Bahcc1	T	C	11: 120,163,472 (GRCm39)	V590A	possibly damaging	Het
Bcl6	A	G	16: 23,791,364 (GRCm39)	V330A	possibly damaging	Het
Bcl6	T	C	16: 23,791,652 (GRCm39)	D234G	probably damaging	Het
Btaf1	C	T	19: 36,926,502 (GRCm39)	T58I	probably damaging	Het
Ccdc175	A	T	12: 72,175,183 (GRCm39)		probably null	Het
Cdca4	C	A	12: 112,785,189 (GRCm39)	V180L	probably benign	Het
Ces1g	C	A	8: 94,043,665 (GRCm39)	G425C	possibly damaging	Het
Chl1	T	C	6: 103,683,409 (GRCm39)	L745P	probably damaging	Het
Clec4g	T	A	8: 3,769,518 (GRCm39)	T42S	possibly damaging	Het
Ctsg	A	C	14: 56,337,489 (GRCm39)	I238S	probably damaging	Het
Cyb5rl	A	T	4: 106,944,513 (GRCm39)	E41V	unknown	Het
Dcdc2a	A	G	13: 25,291,681 (GRCm39)	E222G	probably benign	Het
Dnaaf1	G	T	8: 120,323,538 (GRCm39)	G509V	possibly damaging	Het
Dnah5	A	G	15: 28,453,410 (GRCm39)	I4394V	probably benign	Het
Dot1l	T	G	10: 80,626,560 (GRCm39)	S1260R	probably damaging	Het
Dst	T	G	1: 34,208,341 (GRCm39)	I1089S	probably damaging	Het
Efcab3	A	T	11: 104,899,787 (GRCm39)	I4350F	possibly damaging	Het
Eps8l3	A	G	3: 107,791,801 (GRCm39)		probably null	Het
Fam135b	A	G	15: 71,493,917 (GRCm39)	V4A	possibly damaging	Het
Fnip2	T	C	3: 79,388,313 (GRCm39)	E806G	probably benign	Het
Fryl	T	A	5: 73,231,251 (GRCm39)	I1609F	probably benign	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gsn	A	T	2: 35,185,061 (GRCm39)	K339*	probably null	Het
Hecw2	T	A	1: 53,904,283 (GRCm39)	Y1155F	possibly damaging	Het
Kif20b	T	A	19: 34,951,892 (GRCm39)	N1723K	probably damaging	Het
Kif2b	T	C	11: 91,467,650 (GRCm39)	D211G	probably benign	Het
Lhfpl4	C	T	6: 113,153,632 (GRCm39)	V140I	probably benign	Het
Med16	C	T	10: 79,739,177 (GRCm39)	G203D	probably damaging	Het
Mrgpra3	T	A	7: 47,239,389 (GRCm39)	Y179F	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Myo18b	A	G	5: 113,022,271 (GRCm39)	S374P	unknown	Het
Myoz1	A	G	14: 20,699,477 (GRCm39)	I287T	possibly damaging	Het
Ncoa6	T	C	2: 155,279,983 (GRCm39)	D11G	probably benign	Het
Nlrp9c	A	G	7: 26,085,046 (GRCm39)	Y178H	probably damaging	Het
Nmur1	T	C	1: 86,315,230 (GRCm39)	T212A	probably damaging	Het
Oacyl	A	G	18: 65,853,323 (GRCm39)	D143G	probably benign	Het
Obox5	A	G	7: 15,492,732 (GRCm39)	Y229C	probably damaging	Het
Or10d1c	A	T	9: 38,893,914 (GRCm39)	M142K	probably benign	Het
Or1j12	A	G	2: 36,342,702 (GRCm39)	Y35C	probably damaging	Het
Or1x2	C	A	11: 50,918,428 (GRCm39)	L200I	probably benign	Het
Or8c13	A	T	9: 38,091,632 (GRCm39)	C162*	probably null	Het
Pcdhb17	A	C	18: 37,619,566 (GRCm39)	N452T	probably benign	Het
Pear1	T	G	3: 87,658,752 (GRCm39)	H901P	probably benign	Het
Peds1	C	G	2: 167,503,398 (GRCm39)	A7P	probably benign	Het
Pi16	A	G	17: 29,545,313 (GRCm39)	Y192C	probably damaging	Het
Pip5k1b	T	G	19: 24,335,424 (GRCm39)	E362D	probably damaging	Het
Pla2g5	T	C	4: 138,531,830 (GRCm39)	D58G	probably damaging	Het
Pole	T	A	5: 110,472,968 (GRCm39)		probably null	Het
Prdm16	G	T	4: 154,429,925 (GRCm39)	T348K	probably damaging	Het
Prkdc	T	A	16: 15,507,207 (GRCm39)	F896I	probably damaging	Het
Prmt7	T	C	8: 106,961,732 (GRCm39)	F215S	unknown	Het
Prss23	T	A	7: 89,159,392 (GRCm39)	T226S	probably damaging	Het
Ptpn14	G	A	1: 189,595,595 (GRCm39)	W739*	probably null	Het
Rfx5	G	T	3: 94,863,850 (GRCm39)	G135C	probably damaging	Het
Scmh1	A	G	4: 120,382,252 (GRCm39)	H573R	probably benign	Het
Serpina5	G	T	12: 104,068,554 (GRCm39)		probably null	Het
Sh3rf2	G	A	18: 42,237,227 (GRCm39)		probably null	Het
Slc38a2	T	C	15: 96,591,182 (GRCm39)	M229V	probably damaging	Het
Slc6a17	C	G	3: 107,400,464 (GRCm39)	G222R	probably damaging	Het
Sp110	C	T	1: 85,507,406 (GRCm39)	G367D	possibly damaging	Het
Srcap	C	A	7: 127,138,213 (GRCm39)	L1128M	probably damaging	Het
Tpra1	T	A	6: 88,885,276 (GRCm39)	I76N	probably damaging	Het
Trav6-4	A	T	14: 53,692,049 (GRCm39)	Y52F	probably benign	Het
Trp63	C	A	16: 25,639,227 (GRCm39)	H138Q	probably damaging	Het
Trub2	A	G	2: 29,669,838 (GRCm39)	V177A	possibly damaging	Het
Ugt2a2	T	C	5: 87,608,255 (GRCm39)	D528G	possibly damaging	Het
Wnk2	C	A	13: 49,256,314 (GRCm39)	R269L	possibly damaging	Het
Zc3h12c	T	A	9: 52,027,226 (GRCm39)	Q731L	possibly damaging	Het

Other mutations in Or1j18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02190:Or1j18	APN	2	36,624,591 (GRCm39)	missense	probably benign	0.03
IGL02417:Or1j18	APN	2	36,624,356 (GRCm39)	missense	probably benign	0.13
IGL02488:Or1j18	APN	2	36,624,362 (GRCm39)	missense	probably benign	0.36
IGL02878:Or1j18	APN	2	36,624,489 (GRCm39)	missense	probably damaging	1.00
IGL03354:Or1j18	APN	2	36,624,525 (GRCm39)	missense	possibly damaging	0.89
IGL03354:Or1j18	APN	2	36,624,524 (GRCm39)	missense	possibly damaging	0.87
PIT4403001:Or1j18	UTSW	2	36,624,930 (GRCm39)	missense	probably damaging	0.99
R0091:Or1j18	UTSW	2	36,624,917 (GRCm39)	missense	probably damaging	1.00
R0107:Or1j18	UTSW	2	36,624,730 (GRCm39)	nonsense	probably null
R0457:Or1j18	UTSW	2	36,624,545 (GRCm39)	missense	probably benign	0.18
R0563:Or1j18	UTSW	2	36,625,013 (GRCm39)	nonsense	probably null
R1205:Or1j18	UTSW	2	36,624,767 (GRCm39)	missense	probably benign	0.16
R1599:Or1j18	UTSW	2	36,625,001 (GRCm39)	missense	probably benign	0.01
R1668:Or1j18	UTSW	2	36,625,204 (GRCm39)	nonsense	probably null
R1845:Or1j18	UTSW	2	36,624,854 (GRCm39)	missense	probably damaging	0.99
R1856:Or1j18	UTSW	2	36,624,357 (GRCm39)	missense	probably benign
R2165:Or1j18	UTSW	2	36,624,713 (GRCm39)	missense	probably damaging	0.97
R4399:Or1j18	UTSW	2	36,625,242 (GRCm39)	missense	probably benign	0.00
R4657:Or1j18	UTSW	2	36,624,415 (GRCm39)	nonsense	probably null
R4684:Or1j18	UTSW	2	36,624,686 (GRCm39)	missense	probably damaging	1.00
R4767:Or1j18	UTSW	2	36,624,335 (GRCm39)	start codon destroyed	probably benign	0.02
R4988:Or1j18	UTSW	2	36,624,996 (GRCm39)	missense	possibly damaging	0.94
R5058:Or1j18	UTSW	2	36,625,011 (GRCm39)	missense	possibly damaging	0.52
R5103:Or1j18	UTSW	2	36,624,680 (GRCm39)	missense	probably benign	0.23
R5140:Or1j18	UTSW	2	36,624,510 (GRCm39)	missense	possibly damaging	0.59
R5587:Or1j18	UTSW	2	36,624,633 (GRCm39)	missense	probably damaging	1.00
R5591:Or1j18	UTSW	2	36,625,244 (GRCm39)	missense	probably benign
R6738:Or1j18	UTSW	2	36,624,444 (GRCm39)	missense	probably benign	0.26
R7122:Or1j18	UTSW	2	36,624,436 (GRCm39)	missense	probably benign	0.02
R7330:Or1j18	UTSW	2	36,625,057 (GRCm39)	nonsense	probably null
R7485:Or1j18	UTSW	2	36,624,650 (GRCm39)	missense	probably benign	0.01
R7792:Or1j18	UTSW	2	36,624,342 (GRCm39)	missense	probably benign	0.01
R7812:Or1j18	UTSW	2	36,624,737 (GRCm39)	missense	probably benign
R8303:Or1j18	UTSW	2	36,624,467 (GRCm39)	missense	probably damaging	1.00
R8824:Or1j18	UTSW	2	36,625,203 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCTTTACAGTGAGAAAGATCTTCAC -3'
(R):5'- CCAGCATATGAGATGGACTGAC -3'

Sequencing Primer
(F):5'- CAGTGAGAAAGATCTTCACTTTTGG -3'
(R):5'- GACTATGTGTCAGCATATTCATGAGC -3'

Posted On

2019-05-15