Mutagenetix > Incidental Mutation

Incidental Mutation 'R4988:Or2m13'

385975

Institutional Source

Beutler Lab

Gene Symbol

Or2m13

Ensembl Gene

ENSMUSG00000050158

Gene Name

olfactory receptor family 2 subfamily M member 13

Synonyms

Olfr165, MOR279-1, GA_x54KRFPKG5P-15855164-15854223

MMRRC Submission

042582-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R4988 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19224994-19241884 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19225860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 302 (M302K)

Ref Sequence

ENSEMBL: ENSMUSP00000145668 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052516] [ENSMUST00000206110] [ENSMUST00000206410]

AlphaFold

Q8VFA2

Predicted Effect

probably benign
Transcript: ENSMUST00000052516
AA Change: M302K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000062079
Gene: ENSMUSG00000050158
AA Change: M302K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	309	5.6e-48	PFAM
Pfam:7TM_GPCR_Srsx	36	306	6e-10	PFAM
Pfam:7tm_1	42	291	4e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000103984

Predicted Effect

probably benign
Transcript: ENSMUST00000206110
AA Change: M302K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000206410
AA Change: M303K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0766

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

100% (58/58)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	G	A	1: 130,670,447 (GRCm39)	G223E	probably damaging	Het
Abcb11	T	C	2: 69,154,236 (GRCm39)	N110S	probably benign	Het
Acaca	T	A	11: 84,154,121 (GRCm39)	H947Q	probably damaging	Het
Akap13	T	C	7: 75,380,276 (GRCm39)	M2202T	probably damaging	Het
Amy2b	T	C	3: 113,058,550 (GRCm39)		noncoding transcript	Het
Arhgef4	A	T	1: 34,762,535 (GRCm39)	H597L	unknown	Het
Asgr2	A	G	11: 69,988,665 (GRCm39)	I119M	probably benign	Het
Casc3	T	G	11: 98,712,700 (GRCm39)		probably null	Het
Cbr1b	A	G	16: 93,426,884 (GRCm39)	T162A	probably benign	Het
Ccdc7b	T	A	8: 129,872,013 (GRCm39)	M239K	possibly damaging	Het
Cdc27	A	G	11: 104,416,950 (GRCm39)	S334P	possibly damaging	Het
Ces1c	T	C	8: 93,827,336 (GRCm39)	E476G	probably damaging	Het
Clec3a	T	A	8: 115,144,827 (GRCm39)	M1K	probably null	Het
Col9a1	T	C	1: 24,224,273 (GRCm39)	S152P	unknown	Het
Cpd	A	G	11: 76,705,656 (GRCm39)	S359P	probably damaging	Het
Ctnnal1	A	T	4: 56,847,854 (GRCm39)	L95*	probably null	Het
Dhx57	T	C	17: 80,558,827 (GRCm39)	D1044G	probably damaging	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Efcab5	A	G	11: 77,028,078 (GRCm39)	S418P	probably damaging	Het
Elp5	T	C	11: 69,870,668 (GRCm39)	D59G	probably benign	Het
Fam210a	G	A	18: 68,409,218 (GRCm39)	R31C	probably benign	Het
Farp1	A	G	14: 121,513,019 (GRCm39)	T792A	probably damaging	Het
Fmc1	A	T	6: 38,511,917 (GRCm39)	Y37F	probably benign	Het
Gm10717	T	A	9: 3,026,368 (GRCm39)	L72M	probably benign	Het
Gm1758	A	T	16: 14,320,067 (GRCm39)		noncoding transcript	Het
Gm4553	G	A	7: 141,718,729 (GRCm39)		probably benign	Het
Gpr156	A	G	16: 37,768,577 (GRCm39)	T33A	possibly damaging	Het
Hhat	A	T	1: 192,339,602 (GRCm39)		probably benign	Het
Hint2	T	C	4: 43,654,953 (GRCm39)	I59V	possibly damaging	Het
Hps4	C	T	5: 112,526,019 (GRCm39)		probably benign	Het
Hsd17b8	A	G	17: 34,246,262 (GRCm39)	F137S	probably damaging	Het
Klrc2	A	T	6: 129,633,426 (GRCm39)	C192S	probably benign	Het
Map1a	C	T	2: 121,133,531 (GRCm39)	T1211I	probably benign	Het
Mtus1	T	C	8: 41,537,578 (GRCm39)	N46S	probably benign	Het
Myo18a	T	C	11: 77,736,347 (GRCm39)		probably null	Het
Nbas	T	C	12: 13,458,266 (GRCm39)	S1258P	probably benign	Het
Ndst1	C	T	18: 60,836,005 (GRCm39)	G426D	probably damaging	Het
Nepro	A	G	16: 44,554,905 (GRCm39)	E327G	possibly damaging	Het
Nutm2	C	T	13: 50,626,379 (GRCm39)	T322I	possibly damaging	Het
Or10s1	G	A	9: 39,985,961 (GRCm39)	M123I	probably damaging	Het
Or1j18	T	C	2: 36,624,996 (GRCm39)	I221T	possibly damaging	Het
Or6c66	T	C	10: 129,461,930 (GRCm39)		probably null	Het
Pcdhb15	G	A	18: 37,608,855 (GRCm39)	A696T	probably damaging	Het
Polm	C	A	11: 5,787,618 (GRCm39)	R45L	probably damaging	Het
Pon3	G	A	6: 5,254,582 (GRCm39)	R27*	probably null	Het
Proser1	T	C	3: 53,387,046 (GRCm39)	I845T	probably damaging	Het
Rassf8	A	G	6: 145,762,870 (GRCm39)	N406D	possibly damaging	Het
Skint10	A	T	4: 112,586,069 (GRCm39)	C182*	probably null	Het
Slc6a19	C	T	13: 73,833,959 (GRCm39)	W366*	probably null	Het
St7	T	C	6: 17,934,225 (GRCm39)	F470L	probably damaging	Het
St8sia4	T	A	1: 95,519,522 (GRCm39)	Y322F	possibly damaging	Het
Trav8n-2	A	T	14: 53,975,814 (GRCm39)		probably benign	Het
Vwa8	A	T	14: 79,435,723 (GRCm39)	H1811L	probably benign	Het
Zfp14	G	A	7: 29,737,482 (GRCm39)	T501I	probably benign	Het

Other mutations in Or2m13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01353:Or2m13	APN	16	19,226,333 (GRCm39)	missense	probably benign	0.03
IGL01355:Or2m13	APN	16	19,226,333 (GRCm39)	missense	probably benign	0.03
IGL01363:Or2m13	APN	16	19,226,333 (GRCm39)	missense	probably benign	0.03
IGL01467:Or2m13	APN	16	19,226,539 (GRCm39)	missense	probably benign	0.24
IGL02267:Or2m13	APN	16	19,225,914 (GRCm39)	missense	possibly damaging	0.80
R1194:Or2m13	UTSW	16	19,225,930 (GRCm39)	missense	possibly damaging	0.75
R1624:Or2m13	UTSW	16	19,226,454 (GRCm39)	missense	probably benign	0.06
R2248:Or2m13	UTSW	16	19,225,944 (GRCm39)	missense	probably damaging	0.98
R4865:Or2m13	UTSW	16	19,226,051 (GRCm39)	missense	probably damaging	0.98
R5384:Or2m13	UTSW	16	19,226,547 (GRCm39)	missense	probably damaging	1.00
R5858:Or2m13	UTSW	16	19,225,975 (GRCm39)	missense	possibly damaging	0.91
R5997:Or2m13	UTSW	16	19,226,694 (GRCm39)	missense	probably benign	0.10
R6301:Or2m13	UTSW	16	19,226,167 (GRCm39)	missense	possibly damaging	0.96
R6570:Or2m13	UTSW	16	19,226,068 (GRCm39)	missense	probably benign	0.00
R6703:Or2m13	UTSW	16	19,226,122 (GRCm39)	missense	probably benign	0.03
R6953:Or2m13	UTSW	16	19,226,278 (GRCm39)	missense	probably benign	0.04
R7424:Or2m13	UTSW	16	19,225,944 (GRCm39)	missense	probably damaging	0.98
R7975:Or2m13	UTSW	16	19,226,301 (GRCm39)	missense	probably damaging	1.00
R8312:Or2m13	UTSW	16	19,225,987 (GRCm39)	missense	probably benign	0.11
R8880:Or2m13	UTSW	16	19,226,396 (GRCm39)	nonsense	probably null
R9008:Or2m13	UTSW	16	19,226,173 (GRCm39)	missense	probably benign	0.00
R9394:Or2m13	UTSW	16	19,226,019 (GRCm39)	missense	probably benign
R9698:Or2m13	UTSW	16	19,226,342 (GRCm39)	nonsense	probably null
Z1176:Or2m13	UTSW	16	19,226,485 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GATAATAATACATTGAGCTGGTGACA -3'
(R):5'- TCTCACGTCATGGTGGTGGTAA -3'

Sequencing Primer
(F):5'- TTCTTAGTCGAACCTCACAGGGAAG -3'
(R):5'- ATATACTATGGGGCAGCCATGTTC -3'

Posted On

2016-05-10