Mutagenetix > Incidental Mutation

Incidental Mutation 'R6738:Or1j18'

530290

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

044856-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.213) question?

Stock #

R6738 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36624335-36625273 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36624444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 37 (T37I)

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: T37I

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000077819
Gene: ENSMUSG00000111863
AA Change: T37I

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: T37I

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (55/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,420,300 (GRCm39)		probably benign	Het
Abl1	T	C	2: 31,684,586 (GRCm39)	Y454H	probably damaging	Het
Ambp	A	T	4: 63,067,711 (GRCm39)	D166E	probably benign	Het
Amigo2	A	G	15: 97,143,345 (GRCm39)	V359A	possibly damaging	Het
Ankrd11	A	T	8: 123,618,660 (GRCm39)	S1710T	probably damaging	Het
Ankrd31	T	C	13: 97,040,635 (GRCm39)	S1713P	possibly damaging	Het
Arhgap45	A	T	10: 79,863,431 (GRCm39)	K758M	probably damaging	Het
Bclaf1	T	C	10: 20,199,515 (GRCm39)	I304T	possibly damaging	Het
C1ra	A	G	6: 124,494,718 (GRCm39)	Y327C	probably damaging	Het
Ccdc73	C	T	2: 104,822,433 (GRCm39)	S794L	probably benign	Het
Cd24a	A	G	10: 43,458,672 (GRCm39)	N48D	possibly damaging	Het
Col11a1	A	G	3: 113,906,116 (GRCm39)		probably benign	Het
Cyp11b2	G	A	15: 74,725,363 (GRCm39)	T252I	possibly damaging	Het
Dlx2	A	G	2: 71,376,406 (GRCm39)	Y111H	probably benign	Het
Dsp	T	C	13: 38,376,186 (GRCm39)	S1324P	possibly damaging	Het
Esyt3	A	T	9: 99,202,346 (GRCm39)	F522I	probably damaging	Het
Fam193b	C	T	13: 55,698,174 (GRCm39)	A45T	probably benign	Het
Flnb	A	G	14: 7,904,536 (GRCm38)	T980A	probably benign	Het
Gabrb2	G	T	11: 42,484,758 (GRCm39)	A272S	possibly damaging	Het
H2al2a	G	T	2: 18,001,429 (GRCm39)	Q86K	possibly damaging	Het
Ikbkb	T	G	8: 23,165,052 (GRCm39)	I243L	probably damaging	Het
Il18r1	A	G	1: 40,537,816 (GRCm39)	E527G	probably benign	Het
Krt35	A	T	11: 99,984,535 (GRCm39)	V320D	probably damaging	Het
Krt76	C	T	15: 101,795,913 (GRCm39)	R419H	probably benign	Het
Lrp2	T	A	2: 69,288,832 (GRCm39)	Y3678F	probably damaging	Het
Mab21l4	G	A	1: 93,087,707 (GRCm39)	L49F	probably benign	Het
Mnat1	T	G	12: 73,319,246 (GRCm39)	S290A	probably benign	Het
Mptx2	T	C	1: 173,102,422 (GRCm39)	E89G	probably benign	Het
Myom1	T	A	17: 71,407,393 (GRCm39)		probably null	Het
Naaladl2	A	G	3: 24,225,806 (GRCm39)	V541A	probably benign	Het
Nbeal2	T	C	9: 110,465,973 (GRCm39)	T851A	possibly damaging	Het
Ncoa4	A	G	14: 31,892,750 (GRCm39)	Y11C	probably benign	Het
Ntn5	T	A	7: 45,343,780 (GRCm39)		probably null	Het
Or10d4c	A	G	9: 39,557,957 (GRCm39)		probably benign	Het
Otop2	A	G	11: 115,220,318 (GRCm39)	Y386C	probably damaging	Het
Ppp2r1a	T	A	17: 21,174,979 (GRCm39)		probably null	Het
Prkd2	C	A	7: 16,599,830 (GRCm39)	N764K	possibly damaging	Het
Ralgapa1	A	G	12: 55,809,512 (GRCm39)	L421S	probably damaging	Het
Ric3	G	A	7: 108,647,269 (GRCm39)	R184*	probably null	Het
Sfswap	A	G	5: 129,618,505 (GRCm39)	K480E	probably damaging	Het
Siah2	A	G	3: 58,598,974 (GRCm39)	V88A	probably benign	Het
Slc22a16	T	C	10: 40,461,298 (GRCm39)	F367L	probably damaging	Het
Slc23a2	T	C	2: 131,920,356 (GRCm39)	D183G	probably benign	Het
Svep1	T	C	4: 58,123,180 (GRCm39)	N712S	possibly damaging	Het
Tex21	A	G	12: 76,286,283 (GRCm39)	V72A	probably benign	Het
Tfap4	A	G	16: 4,367,311 (GRCm39)	Y184H	probably damaging	Het
Timeless	T	C	10: 128,076,504 (GRCm39)	Y138H	probably damaging	Het
Tln2	A	T	9: 67,293,946 (GRCm39)	N227K	possibly damaging	Het
Trip10	C	T	17: 57,563,899 (GRCm39)	P342S	probably benign	Het
Ttc6	A	T	12: 57,735,426 (GRCm39)	E1156V	probably damaging	Het
Ttn	T	C	2: 76,728,472 (GRCm39)		probably benign	Het
Vmn2r109	G	A	17: 20,774,785 (GRCm39)	S190L	possibly damaging	Het
Wdr54	A	G	6: 83,132,109 (GRCm39)	S99P	probably damaging	Het
Ythdf2	A	C	4: 131,932,272 (GRCm39)	I296R	probably benign	Het
Zfp445	A	G	9: 122,691,123 (GRCm39)	V24A	probably 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
R7097:Or1j18	UTSW	2	36,624,436 (GRCm39)	missense	probably benign	0.02
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'- CAGTGAGAAAGATCTTCACTTTTGG -3'
(R):5'- CCCAGCATATGAGATGGACTG -3'

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

Posted On

2018-08-01