Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01998:Or1j20'

182938

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or1j20

Ensembl Gene

ENSMUSG00000053146

Gene Name

olfactory receptor family 1 subfamily J member 20

Synonyms

MOR136-10, GA_x6K02T2NLDC-33564136-33565083, Olfr352

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL01998

Quality Score

Status

Chromosome

Chromosomal Location

36759580-36760527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36759658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 27 (N27D)

Ref Sequence

ENSEMBL: ENSMUSP00000149568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065416] [ENSMUST00000217325]

AlphaFold

Q8VGJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000065416
AA Change: N27D

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000070758
Gene: ENSMUSG00000053146
AA Change: N27D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	1.4e-56	PFAM
Pfam:7TM_GPCR_Srsx	38	308	1.8e-7	PFAM
Pfam:7tm_1	44	293	1.2e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217325
AA Change: N27D

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Coding Region Coverage

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arpc3	T	C	5: 122,541,470 (GRCm39)	C78R	probably damaging	Het
Atp6v0b	A	G	4: 117,743,263 (GRCm39)		probably null	Het
B3gnt8	A	G	7: 25,328,203 (GRCm39)	Y211C	probably damaging	Het
Birc6	T	C	17: 74,886,880 (GRCm39)	I736T	probably benign	Het
Bltp1	T	C	3: 37,011,165 (GRCm39)	S1788P	possibly damaging	Het
Bpifb9a	T	C	2: 154,110,120 (GRCm39)		probably null	Het
C3ar1	A	T	6: 122,827,899 (GRCm39)	M106K	probably damaging	Het
C9orf72	A	T	4: 35,194,179 (GRCm39)	D205E	probably benign	Het
Cab39l	T	A	14: 59,734,344 (GRCm39)	L21Q	probably damaging	Het
Casp1	A	T	9: 5,303,043 (GRCm39)	I166F	probably damaging	Het
Cd180	A	G	13: 102,841,722 (GRCm39)	E256G	probably damaging	Het
Clca4a	T	C	3: 144,663,887 (GRCm39)	T519A	probably damaging	Het
Clstn3	A	T	6: 124,435,622 (GRCm39)	L233Q	probably damaging	Het
Crlf3	G	A	11: 79,948,845 (GRCm39)		probably benign	Het
Depdc5	T	C	5: 33,102,495 (GRCm39)		probably benign	Het
Drc7	T	A	8: 95,785,821 (GRCm39)	C226S	probably damaging	Het
Epha5	T	A	5: 84,232,593 (GRCm39)	D807V	probably damaging	Het
Fat2	A	G	11: 55,187,021 (GRCm39)	L1275P	probably benign	Het
Fv1	T	C	4: 147,953,784 (GRCm39)	C117R	possibly damaging	Het
Ighg2b	C	A	12: 113,270,709 (GRCm39)	M140I	unknown	Het
Klra5	A	T	6: 129,883,676 (GRCm39)	Y60*	probably null	Het
Lmtk2	C	T	5: 144,112,883 (GRCm39)	T1201I	probably damaging	Het
Ncapd2	A	T	6: 125,150,078 (GRCm39)	S917T	probably benign	Het
Ncapd2	A	T	6: 125,146,896 (GRCm39)	L1230H	probably damaging	Het
Nfx1	T	A	4: 41,004,353 (GRCm39)	I708N	probably damaging	Het
Notch2	A	T	3: 98,050,422 (GRCm39)	D1899V	probably damaging	Het
Npepl1	T	A	2: 173,957,993 (GRCm39)		probably benign	Het
Nps	T	A	7: 134,870,481 (GRCm39)		probably benign	Het
Nrg1	T	C	8: 32,408,162 (GRCm39)	S24G	probably damaging	Het
Or2ag16	G	A	7: 106,351,758 (GRCm39)	T279M	possibly damaging	Het
Or2t48	A	T	11: 58,420,403 (GRCm39)	Y136*	probably null	Het
Or4k2	C	A	14: 50,424,105 (GRCm39)	V190L	probably benign	Het
Pigx	G	T	16: 31,903,428 (GRCm39)	T211K	probably benign	Het
Pink1	A	G	4: 138,048,053 (GRCm39)	I223T	probably damaging	Het
Plat	G	A	8: 23,257,163 (GRCm39)	A15T	probably benign	Het
Ptges2	G	A	2: 32,291,542 (GRCm39)	A310T	possibly damaging	Het
Rsl1d1	A	G	16: 11,012,509 (GRCm39)	S306P	possibly damaging	Het
Rxfp1	T	C	3: 79,567,403 (GRCm39)	K316E	probably benign	Het
Scn10a	A	G	9: 119,438,742 (GRCm39)	I1708T	probably damaging	Het
Sdk2	A	T	11: 113,729,358 (GRCm39)	F1073Y	probably damaging	Het
Sp100	A	G	1: 85,594,650 (GRCm39)	D170G	probably benign	Het
Spock1	A	T	13: 57,583,994 (GRCm39)		probably benign	Het
Strbp	A	G	2: 37,515,297 (GRCm39)	L243P	probably damaging	Het
Tex55	A	T	16: 38,648,586 (GRCm39)	D174E	probably benign	Het
Tgm5	T	A	2: 120,882,920 (GRCm39)	T446S	probably damaging	Het
Tmem59l	C	T	8: 70,937,431 (GRCm39)	V239I	probably benign	Het
Trav8-1	A	T	14: 53,707,662 (GRCm39)	T101S	probably benign	Het
Triml1	T	C	8: 43,594,350 (GRCm39)	D27G	probably damaging	Het
Vmn2r54	T	C	7: 12,349,227 (GRCm39)	E785G	probably benign	Het
Vps13c	A	G	9: 67,862,350 (GRCm39)		probably null	Het
Wwp2	C	T	8: 108,276,153 (GRCm39)	R64C	probably damaging	Het
Zfp608	T	C	18: 55,024,890 (GRCm39)	H1460R	probably damaging	Het

Other mutations in Or1j20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00899:Or1j20	APN	2	36,760,222 (GRCm39)	missense	probably benign	0.01
IGL01538:Or1j20	APN	2	36,760,532 (GRCm39)	utr 3 prime	probably benign
IGL01716:Or1j20	APN	2	36,759,679 (GRCm39)	missense	probably benign	0.11
IGL01735:Or1j20	APN	2	36,759,698 (GRCm39)	missense	possibly damaging	0.95
IGL02820:Or1j20	APN	2	36,759,871 (GRCm39)	missense	probably benign	0.01
IGL03267:Or1j20	APN	2	36,760,513 (GRCm39)	missense	probably benign	0.00
IGL03306:Or1j20	APN	2	36,760,537 (GRCm39)	utr 3 prime	probably benign
R0013:Or1j20	UTSW	2	36,760,172 (GRCm39)	missense	probably damaging	1.00
R0081:Or1j20	UTSW	2	36,760,022 (GRCm39)	missense	possibly damaging	0.58
R0421:Or1j20	UTSW	2	36,759,653 (GRCm39)	missense	possibly damaging	0.89
R1613:Or1j20	UTSW	2	36,760,405 (GRCm39)	missense	possibly damaging	0.91
R1842:Or1j20	UTSW	2	36,759,601 (GRCm39)	missense	probably damaging	1.00
R2698:Or1j20	UTSW	2	36,760,208 (GRCm39)	missense	possibly damaging	0.94
R4463:Or1j20	UTSW	2	36,760,205 (GRCm39)	missense	probably benign	0.31
R4993:Or1j20	UTSW	2	36,760,000 (GRCm39)	missense	probably benign	0.30
R5553:Or1j20	UTSW	2	36,760,477 (GRCm39)	missense	probably benign	0.00
R5666:Or1j20	UTSW	2	36,760,401 (GRCm39)	missense	probably benign	0.11
R5934:Or1j20	UTSW	2	36,760,280 (GRCm39)	missense	probably benign	0.34
R6290:Or1j20	UTSW	2	36,760,448 (GRCm39)	missense	probably damaging	1.00
R6312:Or1j20	UTSW	2	36,760,477 (GRCm39)	missense	probably benign	0.02
R7358:Or1j20	UTSW	2	36,759,890 (GRCm39)	missense	probably benign
R8383:Or1j20	UTSW	2	36,760,343 (GRCm39)	missense	probably damaging	1.00
R8392:Or1j20	UTSW	2	36,760,352 (GRCm39)	missense	probably damaging	1.00
R8967:Or1j20	UTSW	2	36,760,066 (GRCm39)	missense	probably damaging	1.00
R9311:Or1j20	UTSW	2	36,760,405 (GRCm39)	missense	probably damaging	1.00
X0022:Or1j20	UTSW	2	36,760,289 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07