Mutagenetix > Incidental Mutation

Incidental Mutation 'R9640:Or2l13'

725940

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R9640 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19305590-19306528 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19305761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 58 (M58L)

Ref Sequence

ENSEMBL: ENSMUSP00000150568 (fasta)

Gene Model

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

AlphaFold

Q8VGX2

Predicted Effect

SMART Domains

Protein: ENSMUSP00000074299
Gene: ENSMUSG00000056822
AA Change: M58L

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: M58L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216465
AA Change: M58L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	T	C	16: 14,436,589 (GRCm39)	V214A		Het
A830018L16Rik	A	G	1: 12,021,200 (GRCm39)	K403R	probably damaging	Het
Aadacl4fm4	T	A	4: 144,412,809 (GRCm39)	R44W	possibly damaging	Het
Abhd17c	A	T	7: 83,800,814 (GRCm39)	L80Q	probably damaging	Het
Adam30	T	A	3: 98,069,620 (GRCm39)	D484E	probably damaging	Het
Aspm	T	A	1: 139,408,010 (GRCm39)	V2299E	possibly damaging	Het
Atp6v1c1	C	T	15: 38,689,381 (GRCm39)	R281W	probably damaging	Het
Bclaf1	T	C	10: 20,201,553 (GRCm39)		probably null	Het
Ccdc50	T	C	16: 27,225,461 (GRCm39)	V58A	probably damaging	Het
Cep162	A	G	9: 87,126,352 (GRCm39)	S187P	probably benign	Het
Clip4	C	T	17: 72,163,264 (GRCm39)	T612M	possibly damaging	Het
Corin	C	T	5: 72,592,597 (GRCm39)	V267I	probably benign	Het
Cyp2c37	T	A	19: 40,000,180 (GRCm39)	I434K	probably benign	Het
Ddx43	T	G	9: 78,303,389 (GRCm39)	D76E	probably benign	Het
Dusp5	A	G	19: 53,526,051 (GRCm39)	E231G	probably damaging	Het
Fam114a1	G	A	5: 65,166,394 (GRCm39)	V242I	probably damaging	Het
Frem1	T	A	4: 82,831,896 (GRCm39)	R1973S	probably benign	Het
Gas2l3	A	T	10: 89,266,774 (GRCm39)	D55E	probably damaging	Het
Grwd1	T	C	7: 45,477,303 (GRCm39)	I195V	probably benign	Het
H2-M1	G	T	17: 36,983,031 (GRCm39)	T20K	probably benign	Het
H2-Q2	T	G	17: 35,562,206 (GRCm39)	L151R	probably damaging	Het
Hbegf	T	C	18: 36,640,643 (GRCm39)	Y138C	probably damaging	Het
Hectd1	C	A	12: 51,795,197 (GRCm39)	E2411*	probably null	Het
Igkv11-125	T	A	6: 67,890,783 (GRCm39)	S34T	possibly damaging	Het
Jam2	A	T	16: 84,609,960 (GRCm39)	T191S	probably benign	Het
Kcnh8	T	C	17: 53,185,089 (GRCm39)	I457T	probably damaging	Het
Khk	A	G	5: 31,079,303 (GRCm39)	D15G	probably damaging	Het
Lrba	T	A	3: 86,526,875 (GRCm39)	Y2244*	probably null	Het
Lrp1b	T	C	2: 41,078,929 (GRCm39)	N1841S		Het
Lrp4	A	G	2: 91,316,296 (GRCm39)	T805A	probably benign	Het
Lrp6	C	T	6: 134,441,414 (GRCm39)	R1184Q	probably damaging	Het
Map3k1	A	T	13: 111,900,699 (GRCm39)	L442*	probably null	Het
Mapk8ip3	T	C	17: 25,155,647 (GRCm39)	N61S	possibly damaging	Het
Matcap2	A	T	9: 22,351,228 (GRCm39)	I457L	possibly damaging	Het
Mdn1	T	A	4: 32,754,539 (GRCm39)	V4685E	probably damaging	Het
Mib2	T	C	4: 155,745,325 (GRCm39)	E134G	possibly damaging	Het
Mtss2	T	C	8: 111,464,575 (GRCm39)	V403A	probably benign	Het
Ndst4	C	A	3: 125,232,196 (GRCm39)	T255K	probably damaging	Het
Or1i2	G	C	10: 78,448,311 (GRCm39)	L55V	probably damaging	Het
Or5ae2	G	A	7: 84,506,114 (GRCm39)	C181Y	probably damaging	Het
Or8g20	A	G	9: 39,396,396 (GRCm39)	L51P	probably damaging	Het
Pak1	T	A	7: 97,515,355 (GRCm39)	D126E	probably benign	Het
Rgl1	T	C	1: 152,397,142 (GRCm39)	T675A	probably damaging	Het
Rgs1	T	C	1: 144,121,116 (GRCm39)	D185G	probably damaging	Het
Rnase2a	G	A	14: 51,493,117 (GRCm39)	R83C	probably damaging	Het
Sfmbt2	A	G	2: 10,583,994 (GRCm39)	T784A	probably damaging	Het
Slc6a21	A	T	7: 44,937,189 (GRCm39)	T272S		Het
Sorcs2	G	T	5: 36,222,765 (GRCm39)	S330*	probably null	Het
Spdef	G	T	17: 27,936,183 (GRCm39)	H253Q		Het
Tas2r144	A	G	6: 42,192,428 (GRCm39)	E56G	probably benign	Het
Trim66	A	G	7: 109,074,825 (GRCm39)	C479R	probably damaging	Het
Ttc36	A	T	9: 44,714,034 (GRCm39)	L28Q	probably benign	Het
Ugt1a5	T	C	1: 88,094,098 (GRCm39)	S109P	possibly damaging	Het
Vamp5	G	A	6: 72,347,276 (GRCm39)		probably benign	Het
Wwox	A	G	8: 115,166,540 (GRCm39)	D10G	possibly damaging	Het
Zfp40	T	C	17: 23,394,493 (GRCm39)	Y698C	probably damaging	Het
Zfp62	A	G	11: 49,106,458 (GRCm39)	D183G	probably benign	Het
Zfp932	T	C	5: 110,157,064 (GRCm39)	V254A	probably benign	Het
Zfp943	T	A	17: 22,209,899 (GRCm39)	L57H	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
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
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'- GCTTTTAGGTCACACGTTTCAAG -3'
(R):5'- ATCATAAGCCATGGAAGCCAAG -3'

Sequencing Primer
(F):5'- GGTCACACGTTTCAAGAAATATAAAG -3'
(R):5'- GAGCAAGCCCTCAGAACATG -3'

Posted On

2022-09-12