Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02267:Or2m13'

286948

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or2m13

Ensembl Gene

ENSMUSG00000050158

Gene Name

olfactory receptor family 2 subfamily M member 13

Synonyms

Olfr165, MOR279-1, GA_x54KRFPKG5P-15855164-15854223

Accession Numbers

Essential gene?

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

Stock #

IGL02267

Quality Score

Status

Chromosome

Chromosomal Location

19224994-19241884 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19225914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 285 (L285Q)

Ref Sequence

ENSEMBL: ENSMUSP00000146100 (fasta)

Gene Model

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

AlphaFold

Q8VFA2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052516
AA Change: L284Q

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000062079
Gene: ENSMUSG00000050158
AA Change: L284Q

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

possibly damaging
Transcript: ENSMUST00000206110
AA Change: L284Q

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206410
AA Change: L285Q

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,683,505 (GRCm39)	Q929R	probably benign	Het
Aplf	A	T	6: 87,635,946 (GRCm39)	D122E	probably damaging	Het
Atp2a3	T	A	11: 72,878,810 (GRCm39)	L874Q	probably damaging	Het
Atp2b2	A	T	6: 113,770,691 (GRCm39)	L406Q	probably damaging	Het
Atp6v1b1	A	G	6: 83,733,891 (GRCm39)	D374G	probably benign	Het
Bcas1	T	A	2: 170,220,708 (GRCm39)	R239*	probably null	Het
Bhmt2	A	G	13: 93,805,854 (GRCm39)	V56A	probably damaging	Het
Cage1	T	C	13: 38,207,233 (GRCm39)	E204G	probably damaging	Het
Ccdc157	G	A	11: 4,094,035 (GRCm39)	A532V	probably benign	Het
Cd300lb	G	A	11: 114,819,303 (GRCm39)	R109*	probably null	Het
Clca4c-ps	T	C	3: 144,585,516 (GRCm39)		noncoding transcript	Het
Ctnna3	G	T	10: 64,781,777 (GRCm39)	V747F	probably benign	Het
Cyp2c29	A	T	19: 39,318,866 (GRCm39)	I488F	probably benign	Het
Cyp3a25	T	C	5: 145,935,362 (GRCm39)	M85V	possibly damaging	Het
Dnah7b	T	A	1: 46,266,090 (GRCm39)	Y2220N	probably damaging	Het
Espl1	A	G	15: 102,224,099 (GRCm39)	I1217V	probably benign	Het
Exoc2	A	G	13: 30,999,304 (GRCm39)	S918P	probably benign	Het
Fer1l4	T	A	2: 155,873,172 (GRCm39)	I1303F	possibly damaging	Het
Gm28047	A	T	15: 102,455,662 (GRCm39)	I234K	probably damaging	Het
Gpcpd1	A	G	2: 132,410,630 (GRCm39)	V19A	probably damaging	Het
Gprin3	A	G	6: 59,331,458 (GRCm39)	V283A	probably benign	Het
Grb14	A	G	2: 64,783,960 (GRCm39)	Y56H	probably damaging	Het
Greb1	A	G	12: 16,767,209 (GRCm39)	F331S	probably benign	Het
Iigp1c	T	G	18: 60,379,470 (GRCm39)	V335G	probably damaging	Het
Jkamp	A	G	12: 72,141,591 (GRCm39)	Y198C	probably damaging	Het
Klk1b11	G	T	7: 43,649,165 (GRCm39)	C234F	probably damaging	Het
Nacad	T	C	11: 6,552,649 (GRCm39)	T181A	probably benign	Het
Or1e23	A	G	11: 73,407,375 (GRCm39)	S217P	probably benign	Het
Or5ak4	T	A	2: 85,161,465 (GRCm39)	Y259F	probably damaging	Het
Pitpnm3	A	T	11: 71,962,274 (GRCm39)	I227N	probably benign	Het
Pnn	A	G	12: 59,116,995 (GRCm39)	E189G	probably damaging	Het
Pnpla2	C	A	7: 141,038,122 (GRCm39)	P197T	probably damaging	Het
Pnpla6	A	G	8: 3,567,327 (GRCm39)	T62A	probably benign	Het
Ptprq	G	T	10: 107,482,419 (GRCm39)	D1051E	probably damaging	Het
Rag2	C	T	2: 101,460,376 (GRCm39)	R229C	probably damaging	Het
Serinc1	A	T	10: 57,399,204 (GRCm39)	I196N	probably damaging	Het
Slc26a4	C	T	12: 31,578,853 (GRCm39)		probably benign	Het
Slc26a9	T	C	1: 131,680,583 (GRCm39)	C43R	probably damaging	Het
Slc2a3	A	T	6: 122,716,931 (GRCm39)	Y44N	probably benign	Het
Smad5	T	G	13: 56,883,603 (GRCm39)		probably benign	Het
Sugct	C	A	13: 17,819,450 (GRCm39)	V132F	possibly damaging	Het
Supt6	T	C	11: 78,117,030 (GRCm39)	E568G	possibly damaging	Het
Tfpt	T	C	7: 3,631,982 (GRCm39)	T43A	probably damaging	Het
Timp4	A	T	6: 115,224,240 (GRCm39)	V143E	possibly damaging	Het
Tns1	T	C	1: 74,031,290 (GRCm39)	D275G	possibly damaging	Het
Trib1	A	G	15: 59,523,449 (GRCm39)	E161G	probably damaging	Het
Trpc7	A	T	13: 57,008,743 (GRCm39)	L308Q	probably damaging	Het
Ush1c	A	T	7: 45,858,722 (GRCm39)	V522E	possibly damaging	Het
Usp28	T	C	9: 48,935,265 (GRCm39)	V449A	probably damaging	Het
Vmn1r82	A	G	7: 12,039,273 (GRCm39)	Y64C	probably damaging	Het
Wwox	G	A	8: 115,438,805 (GRCm39)	M290I	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
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
R4988:Or2m13	UTSW	16	19,225,860 (GRCm39)	missense	probably benign	0.00
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

Posted On

2015-04-16