Mutagenetix > Incidental Mutation

Incidental Mutation 'R0388:Or1j19'

31389

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

038594-MU

Accession Numbers

Essential gene?

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

Stock #

R0388 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36676539-36677480 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 36676874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 112 (D112E)

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 benign
Transcript: ENSMUST00000056865
AA Change: D112E

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000054037
Gene: ENSMUSG00000049315
AA Change: D112E

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 benign
Transcript: ENSMUST00000112950
AA Change: D112E

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108572
Gene: ENSMUSG00000111021
AA Change: D112E

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 benign
Transcript: ENSMUST00000213498
AA Change: D112E

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000214909
AA Change: D112E

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000215199
AA Change: D112E

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000216753

Predicted Effect

probably benign
Transcript: ENSMUST00000217041

Meta Mutation Damage Score

0.2783

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.7%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
Acsbg1	T	C	9: 54,516,347 (GRCm39)	K678R	probably damaging	Het
Adgrg6	A	G	10: 14,326,402 (GRCm39)	I410T	probably benign	Het
Afap1l2	A	C	19: 56,905,674 (GRCm39)		probably benign	Het
Aox1	T	C	1: 58,393,565 (GRCm39)	Y1242H	probably damaging	Het
Apoo-ps	T	C	13: 107,551,173 (GRCm39)		noncoding transcript	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Cdh3	C	A	8: 107,265,761 (GRCm39)	T268K	probably damaging	Het
Chd5	T	A	4: 152,456,101 (GRCm39)	H923Q	probably damaging	Het
Chd7	T	C	4: 8,854,560 (GRCm39)	V1967A	probably benign	Het
Cntn3	T	C	6: 102,254,277 (GRCm39)	M222V	probably damaging	Het
Dcaf17	A	G	2: 70,908,915 (GRCm39)	K277R	probably benign	Het
Dmbt1	T	C	7: 130,697,779 (GRCm39)		probably benign	Het
Dmpk	T	A	7: 18,818,002 (GRCm39)		probably benign	Het
Dzank1	A	T	2: 144,318,026 (GRCm39)	L714Q	possibly damaging	Het
Efcab3	A	G	11: 105,000,227 (GRCm39)	D272G	possibly damaging	Het
Erbb2	G	C	11: 98,318,177 (GRCm39)	R471P	possibly damaging	Het
Esf1	T	A	2: 139,962,791 (GRCm39)	Y760F	possibly damaging	Het
Fanci	C	A	7: 79,089,378 (GRCm39)	T938K	probably benign	Het
Gnai3	A	G	3: 108,023,073 (GRCm39)		probably benign	Het
Hspg2	T	A	4: 137,238,469 (GRCm39)	C319S	probably damaging	Het
Il12a	T	A	3: 68,602,520 (GRCm39)		probably null	Het
Inpp4a	A	G	1: 37,435,241 (GRCm39)	D837G	probably damaging	Het
Kcnj5	T	A	9: 32,229,159 (GRCm39)	E13V	probably damaging	Het
Kcnq3	T	A	15: 65,871,887 (GRCm39)	Y594F	probably benign	Het
Kif16b	T	C	2: 142,582,857 (GRCm39)	E556G	probably damaging	Het
Kif28	T	C	1: 179,567,654 (GRCm39)	I39V	possibly damaging	Het
Lgi2	T	C	5: 52,711,891 (GRCm39)	E143G	probably damaging	Het
Mast1	T	G	8: 85,642,166 (GRCm39)	I1063L	probably benign	Het
Med12l	T	C	3: 59,000,925 (GRCm39)		probably benign	Het
Mmp19	G	T	10: 128,634,752 (GRCm39)	R456L	probably benign	Het
Mon1b	T	A	8: 114,365,710 (GRCm39)	V346E	probably damaging	Het
Mpv17l	A	T	16: 13,758,863 (GRCm39)	I96L	probably benign	Het
Mrgpra9	A	T	7: 46,902,542 (GRCm39)	M1K	probably null	Het
Mycbp2	A	T	14: 103,394,103 (GRCm39)	H2819Q	probably benign	Het
Nav1	A	C	1: 135,376,655 (GRCm39)		probably benign	Het
Neurl4	T	C	11: 69,802,559 (GRCm39)		probably benign	Het
Ntng2	G	C	2: 29,097,438 (GRCm39)	P341R	probably damaging	Het
Oas1d	A	T	5: 121,055,091 (GRCm39)	Y221F	probably damaging	Het
Or1l4	A	C	2: 37,092,196 (GRCm39)		probably null	Het
Or5al6	A	G	2: 85,976,974 (GRCm39)	Y35H	probably damaging	Het
Osbpl8	A	G	10: 111,108,143 (GRCm39)	M380V	probably benign	Het
Pank1	T	C	19: 34,799,106 (GRCm39)		probably benign	Het
Parn	T	C	16: 13,472,340 (GRCm39)	D169G	possibly damaging	Het
Pknox1	T	A	17: 31,822,166 (GRCm39)	I311N	probably damaging	Het
Pprc1	T	C	19: 46,051,214 (GRCm39)	V248A	possibly damaging	Het
Prkcq	T	C	2: 11,259,045 (GRCm39)	C322R	probably benign	Het
Ptpn13	T	A	5: 103,702,928 (GRCm39)	I1298N	probably benign	Het
Rab11fip3	A	G	17: 26,288,046 (GRCm39)	S36P	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Sass6	C	A	3: 116,400,957 (GRCm39)		probably benign	Het
Shroom3	G	A	5: 93,099,152 (GRCm39)	G1463D	probably benign	Het
Slc35d1	A	T	4: 103,042,084 (GRCm39)	Y249*	probably null	Het
Slc9a3	C	T	13: 74,269,655 (GRCm39)	P8S	unknown	Het
Slc9a9	T	A	9: 94,821,616 (GRCm39)		probably null	Het
Sting1	A	G	18: 35,868,164 (GRCm39)		probably null	Het
Syne2	T	A	12: 76,033,749 (GRCm39)	M3666K	probably benign	Het
Synpo2	A	G	3: 122,873,546 (GRCm39)	V1140A	probably benign	Het
Thada	A	G	17: 84,538,524 (GRCm39)	F1495L	probably benign	Het
Timeless	A	G	10: 128,077,294 (GRCm39)		probably null	Het
Tlr6	G	T	5: 65,112,548 (GRCm39)	H120N	possibly damaging	Het
Tns3	T	C	11: 8,395,703 (GRCm39)	I1234V	probably benign	Het
Ttll9	A	G	2: 152,842,099 (GRCm39)	S318G	probably benign	Het
Vps13c	T	C	9: 67,830,197 (GRCm39)		probably benign	Het
Zfp933	T	C	4: 147,910,899 (GRCm39)	I232M	probably benign	Het
Zfyve27	T	C	19: 42,178,024 (GRCm39)	S382P	probably damaging	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
R0614:Or1j19	UTSW	2	36,676,705 (GRCm39)	missense	probably damaging	1.00
R1498:Or1j19	UTSW	2	36,677,358 (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'- AGTACTGGGGAACCTGCTCATCATC -3'
(R):5'- TGGCTCCAATGCGTCCATATGAAAC -3'

Sequencing Primer
(F):5'- CATCAGGCTGGACTCTCAC -3'
(R):5'- TGCGTCCATATGAAACCAGAATG -3'

Posted On

2013-04-24