Mutagenetix > Incidental Mutation

Incidental Mutation 'R1498:Or1j19'

169011

Institutional Source

Beutler Lab

Gene Symbol

Or1j19

Ensembl Gene

ENSMUSG00000049315

Gene Name

olfactory receptor family 1 subfamily J member 19

Synonyms

GA_x6K02T2NLDC-33481050-33481991, Olfr348, MOR136-8

MMRRC Submission

039549-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R1498 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36676539-36677480 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36677358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 274 (I274F)

Ref Sequence

ENSEMBL: ENSMUSP00000150343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056865] [ENSMUST00000112950] [ENSMUST00000213498] [ENSMUST00000214909] [ENSMUST00000215199] [ENSMUST00000216753] [ENSMUST00000217041]

AlphaFold

Q8VGK3

Predicted Effect

probably damaging
Transcript: ENSMUST00000056865
AA Change: I274F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000054037
Gene: ENSMUSG00000049315
AA Change: I274F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	1.3e-56	PFAM
Pfam:7TM_GPCR_Srsx	36	306	3e-6	PFAM
Pfam:7tm_1	42	291	2.7e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112950
AA Change: I274F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108572
Gene: ENSMUSG00000111021
AA Change: I274F

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	36	306	3e-6	PFAM
Pfam:7tm_1	42	291	3.5e-34	PFAM
Pfam:7tm_4	140	284	3.9e-40	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213498
AA Change: I274F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214909
AA Change: I274F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215199
AA Change: I274F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000216753

Predicted Effect

probably benign
Transcript: ENSMUST00000217041

Meta Mutation Damage Score

0.2556

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.6%

Validation Efficiency

97% (83/86)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	G	11: 100,374,627 (GRCm39)	S799P	probably benign	Het
Acvr1b	T	C	15: 101,091,891 (GRCm39)	F57S	probably benign	Het
Adamts5	T	A	16: 85,696,990 (GRCm39)	T56S	possibly damaging	Het
Adrb2	T	C	18: 62,312,004 (GRCm39)	T274A	probably damaging	Het
Agr3	A	T	12: 35,984,379 (GRCm39)		probably null	Het
Ankrd6	A	G	4: 32,810,289 (GRCm39)	M405T	probably benign	Het
Aoc1l2	A	G	6: 48,908,305 (GRCm39)	H435R	probably benign	Het
Aqp5	T	C	15: 99,491,128 (GRCm39)	I60T	probably damaging	Het
Arf5	G	T	6: 28,426,153 (GRCm39)	R180L	probably benign	Het
Asap3	A	G	4: 135,966,505 (GRCm39)	N528D	probably benign	Het
Atmin	G	A	8: 117,681,540 (GRCm39)	E180K	probably benign	Het
Bcl11a	A	T	11: 24,114,005 (GRCm39)	E449D	probably damaging	Het
Cep128	A	T	12: 91,333,191 (GRCm39)	F25I	probably benign	Het
Cfp	GCAC	GC	X: 20,795,905 (GRCm39)		probably null	Het
Chpt1	T	A	10: 88,312,966 (GRCm39)	Y282F	possibly damaging	Het
Cul7	A	G	17: 46,966,636 (GRCm39)	D355G	probably benign	Het
Daxx	T	C	17: 34,131,227 (GRCm39)	Y385H	probably damaging	Het
Dnah2	A	C	11: 69,411,493 (GRCm39)		probably null	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 54,943,572 (GRCm39)		probably benign	Het
Erc2	T	A	14: 28,024,855 (GRCm39)	M578K	probably benign	Het
Evc	T	A	5: 37,481,044 (GRCm39)	H267L	possibly damaging	Het
Exosc10	A	C	4: 148,666,243 (GRCm39)	Q837P	possibly damaging	Het
Fasn	G	A	11: 120,706,245 (GRCm39)	T1033I	probably damaging	Het
Fat1	C	A	8: 45,478,521 (GRCm39)	Y2522*	probably null	Het
Fbxw8	G	A	5: 118,203,850 (GRCm39)		probably benign	Het
Fyn	A	G	10: 39,408,120 (GRCm39)	D321G	possibly damaging	Het
Grm6	G	A	11: 50,748,083 (GRCm39)	V398M	probably damaging	Het
Gtpbp1	T	A	15: 79,603,222 (GRCm39)		probably null	Het
Hnf1a	A	G	5: 115,108,596 (GRCm39)	V103A	probably damaging	Het
Hsp90aa1	A	T	12: 110,662,122 (GRCm39)		probably null	Het
Iqgap2	C	T	13: 95,783,313 (GRCm39)	V1288I	probably benign	Het
Irx5	A	G	8: 93,086,514 (GRCm39)	D199G	probably damaging	Het
Klrh1	A	G	6: 129,748,703 (GRCm39)	S105P	probably damaging	Het
Krt9	G	T	11: 100,079,195 (GRCm39)	C732*	probably null	Het
Lifr	T	C	15: 7,220,099 (GRCm39)	S910P	probably damaging	Het
Lrig1	G	A	6: 94,604,968 (GRCm39)	A209V	possibly damaging	Het
Lrrk1	T	A	7: 65,952,419 (GRCm39)	R506*	probably null	Het
Lyst	T	A	13: 13,824,960 (GRCm39)	I1525K	possibly damaging	Het
Mad2l1	C	T	6: 66,516,826 (GRCm39)	Q173*	probably null	Het
Mcoln1	T	A	8: 3,562,861 (GRCm39)	I524N	probably damaging	Het
Mmp3	A	T	9: 7,446,967 (GRCm39)	D49V	possibly damaging	Het
Morc3	A	T	16: 93,650,743 (GRCm39)	N321I	probably damaging	Het
Mrpl48	T	C	7: 100,195,695 (GRCm39)		probably benign	Het
Myo6	T	A	9: 80,214,961 (GRCm39)	D1231E	probably damaging	Het
Nlrc4	A	G	17: 74,753,408 (GRCm39)	I325T	probably benign	Het
Or2ag17	T	C	7: 106,389,623 (GRCm39)	Y195C	possibly damaging	Het
Or4f61	A	T	2: 111,922,938 (GRCm39)	M36K	probably benign	Het
Or8c16	C	G	9: 38,130,676 (GRCm39)	P183A	probably damaging	Het
Or8k32	A	G	2: 86,368,902 (GRCm39)	V117A	probably benign	Het
Parvg	T	A	15: 84,218,832 (GRCm39)	S230T	possibly damaging	Het
Pcca	T	C	14: 122,854,230 (GRCm39)	I118T	probably damaging	Het
Pde6a	A	G	18: 61,365,932 (GRCm39)	N219S	possibly damaging	Het
Phldb1	G	T	9: 44,612,915 (GRCm39)	P935Q	possibly damaging	Het
Plppr5	T	C	3: 117,456,261 (GRCm39)	S261P	probably damaging	Het
Ppl	T	C	16: 4,922,629 (GRCm39)	N260S	probably benign	Het
Ppp1r3e	A	T	14: 55,113,882 (GRCm39)	H263Q	probably benign	Het
Ppp3cb	T	C	14: 20,559,567 (GRCm39)		probably null	Het
Ppt2	A	T	17: 34,842,075 (GRCm39)	D185E	probably benign	Het
Prr27	A	T	5: 87,998,600 (GRCm39)		probably benign	Het
Ptcd3	A	T	6: 71,870,479 (GRCm39)	V327E	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rtp1	A	T	16: 23,249,970 (GRCm39)	M112L	probably benign	Het
Slc22a5	A	T	11: 53,760,140 (GRCm39)	L392Q	probably damaging	Het
Slc6a7	A	G	18: 61,129,764 (GRCm39)	I614T	probably benign	Het
Slu7	C	A	11: 43,329,044 (GRCm39)	P89T	possibly damaging	Het
Smarcc2	T	C	10: 128,318,061 (GRCm39)	V618A	probably benign	Het
Sorl1	C	T	9: 41,952,369 (GRCm39)	R729Q	probably damaging	Het
Sptbn2	T	C	19: 4,794,274 (GRCm39)	F1493L	possibly damaging	Het
Sulf1	C	T	1: 12,918,574 (GRCm39)	T66I	probably damaging	Het
Tgtp2	A	G	11: 48,950,165 (GRCm39)	Y136H	probably damaging	Het
Tmem117	T	C	15: 94,536,242 (GRCm39)	F92S	probably damaging	Het
Tmprss9	T	A	10: 80,730,934 (GRCm39)	V820E	probably benign	Het
Tpcn2	A	G	7: 144,822,648 (GRCm39)	Y266H	probably damaging	Het
Trat1	A	G	16: 48,555,304 (GRCm39)	S143P	probably benign	Het
Vmn1r49	T	A	6: 90,049,298 (GRCm39)	R235W	probably damaging	Het
Vmn1r71	A	T	7: 10,482,575 (GRCm39)	C38S	probably benign	Het
Vmn2r6	T	A	3: 64,463,890 (GRCm39)	T315S	probably damaging	Het
Wdr36	A	G	18: 32,986,021 (GRCm39)	D575G	possibly damaging	Het
Zfp292	G	T	4: 34,805,397 (GRCm39)	A2549E	possibly damaging	Het
Zfp354a	A	T	11: 50,961,073 (GRCm39)	H426L	probably damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp648	T	A	1: 154,081,119 (GRCm39)	I426N	probably damaging	Het
Zfp87	T	C	13: 74,520,736 (GRCm39)	N114S	probably benign	Het

Other mutations in Or1j19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01388:Or1j19	APN	2	36,677,367 (GRCm39)	missense	probably benign	0.03
IGL01943:Or1j19	APN	2	36,677,095 (GRCm39)	missense	probably benign	0.13
IGL02030:Or1j19	APN	2	36,677,410 (GRCm39)	missense	probably damaging	1.00
IGL02338:Or1j19	APN	2	36,676,557 (GRCm39)	nonsense	probably null
IGL02349:Or1j19	APN	2	36,677,058 (GRCm39)	missense	possibly damaging	0.95
IGL02695:Or1j19	APN	2	36,677,332 (GRCm39)	missense	possibly damaging	0.72
IGL03004:Or1j19	APN	2	36,677,194 (GRCm39)	missense	probably damaging	1.00
IGL03007:Or1j19	APN	2	36,676,812 (GRCm39)	missense	probably damaging	0.99
IGL03024:Or1j19	APN	2	36,676,858 (GRCm39)	missense	possibly damaging	0.55
R0360:Or1j19	UTSW	2	36,677,452 (GRCm39)	missense	probably benign	0.03
R0388:Or1j19	UTSW	2	36,676,874 (GRCm39)	missense	probably benign	0.43
R0614:Or1j19	UTSW	2	36,676,705 (GRCm39)	missense	probably damaging	1.00
R1562:Or1j19	UTSW	2	36,676,696 (GRCm39)	missense	probably damaging	1.00
R2882:Or1j19	UTSW	2	36,677,202 (GRCm39)	missense	probably damaging	1.00
R3731:Or1j19	UTSW	2	36,676,578 (GRCm39)	missense	possibly damaging	0.53
R4513:Or1j19	UTSW	2	36,676,782 (GRCm39)	missense	probably benign	0.05
R4899:Or1j19	UTSW	2	36,676,810 (GRCm39)	missense	probably benign	0.04
R5005:Or1j19	UTSW	2	36,677,370 (GRCm39)	missense	probably benign
R5035:Or1j19	UTSW	2	36,676,903 (GRCm39)	missense	probably damaging	1.00
R5490:Or1j19	UTSW	2	36,677,193 (GRCm39)	missense	probably damaging	1.00
R6361:Or1j19	UTSW	2	36,676,792 (GRCm39)	missense	probably damaging	1.00
R7762:Or1j19	UTSW	2	36,677,022 (GRCm39)	missense	probably benign	0.03
R8109:Or1j19	UTSW	2	36,676,618 (GRCm39)	missense	probably benign	0.00
R8223:Or1j19	UTSW	2	36,677,409 (GRCm39)	missense
R8826:Or1j19	UTSW	2	36,676,855 (GRCm39)	nonsense	probably null
R8906:Or1j19	UTSW	2	36,676,621 (GRCm39)	missense	probably benign	0.01
R9138:Or1j19	UTSW	2	36,676,702 (GRCm39)	missense	probably benign	0.00
R9147:Or1j19	UTSW	2	36,676,938 (GRCm39)	missense	probably benign	0.01
R9148:Or1j19	UTSW	2	36,676,938 (GRCm39)	missense	probably benign	0.01
R9267:Or1j19	UTSW	2	36,676,530 (GRCm39)	unclassified	probably benign
R9306:Or1j19	UTSW	2	36,677,407 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAGATCTTGACAGCTTTCTTCTGAC -3'
(R):5'- AGATTGAAACTTCCCTTTGAGCAGCAG -3'

Sequencing Primer
(F):5'- TTTAGAGGTAACACTGTCCACC -3'
(R):5'- CCTTTGAGCAGCAGAAAAAAGC -3'

Posted On

2014-04-13