Mutagenetix > Incidental Mutation

Incidental Mutation 'R0576:Or2l13'

56243

Institutional Source

Beutler Lab

Gene Symbol

Or2l13

Ensembl Gene

ENSMUSG00000056822

Gene Name

olfactory receptor family 2 subfamily L member 13

Synonyms

MOR270-1, GA_x54KRFPKG5P-15934912-15935850, Olfr166

MMRRC Submission

038766-MU

Accession Numbers

Essential gene?

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

Stock #

R0576 (G1)

Quality Score

197

Status

Validated

Chromosome

Chromosomal Location

19305590-19306528 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19305938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 117 (M117V)

Ref Sequence

ENSEMBL: ENSMUSP00000150764 (fasta)

Gene Model

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

AlphaFold

Q8VGX2

Predicted Effect

probably damaging
Transcript: ENSMUST00000074739
AA Change: M117V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074299
Gene: ENSMUSG00000056822
AA Change: M117V

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 damaging
Transcript: ENSMUST00000213531
AA Change: M117V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216465
AA Change: M117V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.2432

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.6%
20x: 94.9%

Validation Efficiency

92% (47/51)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc77	T	A	6: 120,308,809 (GRCm39)	L335F	probably benign	Het
Ccr3	T	A	9: 123,829,046 (GRCm39)	F127Y	probably damaging	Het
Cfap43	T	C	19: 47,785,579 (GRCm39)	N437S	probably benign	Het
Cfh	A	G	1: 140,064,553 (GRCm39)	V365A	probably damaging	Het
Copg1	T	A	6: 87,874,945 (GRCm39)	V380D	probably damaging	Het
Cxxc1	T	C	18: 74,353,256 (GRCm39)	I497T	possibly damaging	Het
Disp3	G	A	4: 148,326,047 (GRCm39)	T1237I	possibly damaging	Het
Dnaaf9	A	T	2: 130,555,390 (GRCm39)	F839L	probably benign	Het
Dnah7a	A	T	1: 53,675,246 (GRCm39)	F360L	probably benign	Het
Dnhd1	C	T	7: 105,363,252 (GRCm39)	A3938V	probably damaging	Het
Eif4g1	A	G	16: 20,502,818 (GRCm39)	D1000G	probably damaging	Het
Emsy	A	T	7: 98,242,983 (GRCm39)	V1052D	probably damaging	Het
Ep400	A	G	5: 110,858,959 (GRCm39)		probably benign	Het
Fa2h	T	C	8: 112,082,779 (GRCm39)	H146R	probably damaging	Het
Gad1	G	A	2: 70,424,996 (GRCm39)	C430Y	probably benign	Het
Gtse1	T	C	15: 85,753,252 (GRCm39)	S456P	probably damaging	Het
Gucy2g	T	C	19: 55,187,202 (GRCm39)	T1073A	probably damaging	Het
Hectd2	T	G	19: 36,562,897 (GRCm39)	N3K	probably benign	Het
Hmcn1	A	T	1: 150,525,768 (GRCm39)	C3318*	probably null	Het
Lipo2	C	T	19: 33,726,824 (GRCm39)	S71N	probably benign	Het
Mynn	G	T	3: 30,661,217 (GRCm39)	D100Y	probably damaging	Het
Myo16	G	A	8: 10,612,318 (GRCm39)		probably null	Het
Npr2	G	T	4: 43,640,947 (GRCm39)	K384N	probably benign	Het
Nrde2	A	G	12: 100,098,492 (GRCm39)	V725A	possibly damaging	Het
Or11h23	T	A	14: 50,948,661 (GRCm39)	S291R	probably damaging	Het
Otud7a	C	T	7: 63,335,266 (GRCm39)	P101S	possibly damaging	Het
Pcdhb7	T	A	18: 37,475,410 (GRCm39)	L182Q	probably benign	Het
Pdss1	A	G	2: 22,805,425 (GRCm39)		probably null	Het
Ppargc1b	T	A	18: 61,444,512 (GRCm39)	H233L	probably damaging	Het
Ppm1b	A	G	17: 85,320,987 (GRCm39)		probably null	Het
Prdm14	A	T	1: 13,195,949 (GRCm39)	S37R	possibly damaging	Het
Prss45	A	G	9: 110,667,497 (GRCm39)	T39A	probably benign	Het
Qars1	T	C	9: 108,392,161 (GRCm39)		probably benign	Het
Rxfp2	T	G	5: 149,961,712 (GRCm39)	H77Q	probably benign	Het
Scd4	A	G	19: 44,329,685 (GRCm39)	M219V	probably benign	Het
Sec24b	G	T	3: 129,834,985 (GRCm39)	P71Q	probably benign	Het
Snd1	T	G	6: 28,886,576 (GRCm39)	V861G	probably benign	Het
Sspo	A	G	6: 48,441,876 (GRCm39)		probably null	Het
Tas2r129	A	G	6: 132,928,497 (GRCm39)	T145A	probably benign	Het
Tbc1d31	T	A	15: 57,833,120 (GRCm39)	I953N	possibly damaging	Het
Tlr4	A	G	4: 66,757,732 (GRCm39)	N175S	probably benign	Het
Tspyl4	A	G	10: 34,174,518 (GRCm39)	N337D	probably damaging	Het
Ttn	A	T	2: 76,642,545 (GRCm39)	L13330H	probably damaging	Het
Usp33	T	A	3: 152,089,756 (GRCm39)	Y765*	probably null	Het
Vmn2r59	T	A	7: 41,696,529 (GRCm39)	Y71F	probably benign	Het
Zbed6	A	G	1: 133,585,576 (GRCm39)	F587S	probably benign	Het
Zfhx4	T	C	3: 5,467,161 (GRCm39)	S2465P	probably damaging	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
IGL02105:Or2l13	APN	16	19,306,011 (GRCm39)	missense	probably benign	0.15
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
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

Predicted Primers

PCR Primer
(F):5'- GGCAACTCAGGAATGATCCACCTC -3'
(R):5'- GGCAACATGGCTGGAACATCACAG -3'

Sequencing Primer
(F):5'- AGGAATGATCCACCTCATTCGTG -3'
(R):5'- CATCACAGAAGAAATGGTTAATGGAC -3'

Posted On

2013-07-11