Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02105:Or2l13'

279917

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or2l13

Ensembl Gene

ENSMUSG00000056822

Gene Name

olfactory receptor family 2 subfamily L member 13

Synonyms

MOR270-1, GA_x54KRFPKG5P-15934912-15935850, Olfr166

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL02105

Quality Score

Status

Chromosome

Chromosomal Location

19305590-19306528 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 19306011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 141 (L141R)

Ref Sequence

ENSEMBL: ENSMUSP00000150764 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074739] [ENSMUST00000213531] [ENSMUST00000216465]

AlphaFold

Q8VGX2

Predicted Effect

probably benign
Transcript: ENSMUST00000074739
AA Change: L141R

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000074299
Gene: ENSMUSG00000056822
AA Change: L141R

Domain	Start	End	E-Value	Type
low complexity region	12	29	N/A	INTRINSIC
Pfam:7tm_4	30	306	4e-50	PFAM
Pfam:7TM_GPCR_Srsx	33	295	3.6e-7	PFAM
Pfam:7tm_1	40	289	2.1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213531
AA Change: L141R

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000216465
AA Change: L141R

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	G	T	3: 95,587,374 (GRCm39)	P734H	probably damaging	Het
Arfip2	A	T	7: 105,288,590 (GRCm39)	I14N	probably damaging	Het
Asap3	G	T	4: 135,955,785 (GRCm39)		probably null	Het
Atg2a	T	A	19: 6,300,433 (GRCm39)		probably benign	Het
Bbs12	T	C	3: 37,374,296 (GRCm39)	L248P	probably damaging	Het
Brd3	A	T	2: 27,349,788 (GRCm39)	I255N	probably damaging	Het
Ccdc141	A	G	2: 76,879,921 (GRCm39)		probably null	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Chd9	T	A	8: 91,659,116 (GRCm39)	D25E	probably damaging	Het
Cobl	T	C	11: 12,199,651 (GRCm39)	K1325R	probably damaging	Het
Dnmt1	T	A	9: 20,819,178 (GRCm39)	E1486V	unknown	Het
Dock2	T	C	11: 34,605,352 (GRCm39)	N256D	probably damaging	Het
Dpp3	G	A	19: 4,966,799 (GRCm39)	S408L	probably damaging	Het
Dync2h1	C	T	9: 7,075,892 (GRCm39)	G2992R	probably damaging	Het
Eef1a1	T	C	9: 78,387,833 (GRCm39)	D35G	probably benign	Het
Fntb	A	G	12: 76,909,263 (GRCm39)	K84E	probably benign	Het
Gfi1	A	G	5: 107,871,588 (GRCm39)		probably null	Het
Glb1l3	T	A	9: 26,729,823 (GRCm39)	I516F	probably damaging	Het
Hltf	A	G	3: 20,146,921 (GRCm39)	N560S	probably damaging	Het
Kif21b	A	G	1: 136,099,041 (GRCm39)	N1443S	probably benign	Het
Knl1	T	A	2: 118,902,289 (GRCm39)	I1330K	probably benign	Het
Krt20	C	T	11: 99,328,827 (GRCm39)	V33M	probably benign	Het
Lao1	A	G	4: 118,825,640 (GRCm39)	T487A	probably damaging	Het
Larp4	A	G	15: 99,883,952 (GRCm39)	E63G	probably damaging	Het
Lrp1	A	G	10: 127,380,448 (GRCm39)	V3901A	probably damaging	Het
Lrrc17	A	G	5: 21,775,255 (GRCm39)	I272M	probably benign	Het
Malrd1	A	T	2: 16,132,674 (GRCm39)	Q1865L	unknown	Het
Mtg1	T	C	7: 139,730,119 (GRCm39)	L305P	probably damaging	Het
Mylk4	T	A	13: 32,904,545 (GRCm39)	E427D	probably benign	Het
Myom1	G	T	17: 71,354,711 (GRCm39)		probably benign	Het
Nbeal1	A	G	1: 60,292,660 (GRCm39)	E1104G	probably damaging	Het
Obox5	A	G	7: 15,492,500 (GRCm39)	M152V	probably benign	Het
Olfm2	C	T	9: 20,583,476 (GRCm39)	V203M	probably damaging	Het
Or8b12c	A	T	9: 37,715,891 (GRCm39)	H228L	possibly damaging	Het
Pf4	A	G	5: 90,921,114 (GRCm39)	S105G	probably damaging	Het
Phlpp2	T	A	8: 110,631,040 (GRCm39)	I228N	probably damaging	Het
Sall1	T	G	8: 89,759,196 (GRCm39)	S303R	probably damaging	Het
Setd5	A	G	6: 113,094,541 (GRCm39)	E486G	probably damaging	Het
Slc9a5	C	T	8: 106,076,075 (GRCm39)	P23S	probably damaging	Het
Tbc1d9b	T	A	11: 50,040,653 (GRCm39)	I390N	probably damaging	Het
Trp53	T	C	11: 69,479,329 (GRCm39)	V169A	probably damaging	Het
Usp4	A	G	9: 108,262,131 (GRCm39)	D791G	probably damaging	Het
Vmn1r76	A	G	7: 11,664,417 (GRCm39)	S266P	possibly damaging	Het
Vmn2r27	A	G	6: 124,174,308 (GRCm39)		probably benign	Het
Xirp1	C	T	9: 119,846,063 (GRCm39)	G940E	probably damaging	Het
Zfp407	A	T	18: 84,580,845 (GRCm39)	C89*	probably null	Het

Other mutations in Or2l13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01559:Or2l13	APN	16	19,306,209 (GRCm39)	missense	probably benign	0.13
IGL01639:Or2l13	APN	16	19,305,914 (GRCm39)	missense	probably damaging	0.97
IGL02352:Or2l13	APN	16	19,305,927 (GRCm39)	missense	probably damaging	1.00
IGL02359:Or2l13	APN	16	19,305,927 (GRCm39)	missense	probably damaging	1.00
IGL03053:Or2l13	APN	16	19,305,969 (GRCm39)	missense	probably benign	0.36
IGL03168:Or2l13	APN	16	19,305,969 (GRCm39)	missense	probably benign	0.36
R0576:Or2l13	UTSW	16	19,305,938 (GRCm39)	missense	probably damaging	1.00
R0920:Or2l13	UTSW	16	19,305,680 (GRCm39)	missense	probably benign	0.00
R1335:Or2l13	UTSW	16	19,305,803 (GRCm39)	missense	probably benign	0.01
R1468:Or2l13	UTSW	16	19,306,378 (GRCm39)	missense	probably benign	0.15
R1468:Or2l13	UTSW	16	19,306,378 (GRCm39)	missense	probably benign	0.15
R1490:Or2l13	UTSW	16	19,305,672 (GRCm39)	missense	probably benign
R2095:Or2l13	UTSW	16	19,305,681 (GRCm39)	missense	probably benign
R3123:Or2l13	UTSW	16	19,305,765 (GRCm39)	missense	probably damaging	1.00
R4893:Or2l13	UTSW	16	19,305,653 (GRCm39)	missense	probably benign
R5093:Or2l13	UTSW	16	19,306,227 (GRCm39)	missense	probably damaging	1.00
R5222:Or2l13	UTSW	16	19,305,680 (GRCm39)	missense	probably benign
R7149:Or2l13	UTSW	16	19,306,260 (GRCm39)	missense	probably damaging	1.00
R7305:Or2l13	UTSW	16	19,306,449 (GRCm39)	missense	probably damaging	0.98
R7484:Or2l13	UTSW	16	19,305,753 (GRCm39)	missense	possibly damaging	0.82
R9394:Or2l13	UTSW	16	19,306,421 (GRCm39)	missense	possibly damaging	0.66
R9640:Or2l13	UTSW	16	19,305,761 (GRCm39)	missense	probably damaging	1.00
R9749:Or2l13	UTSW	16	19,306,113 (GRCm39)	missense	possibly damaging	0.95
X0020:Or2l13	UTSW	16	19,305,840 (GRCm39)	missense	probably benign	0.22
Z1088:Or2l13	UTSW	16	19,305,798 (GRCm39)	missense	possibly damaging	0.52

Posted On

2015-04-16