Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02247:Or12e13'

286218

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or12e13

Ensembl Gene

ENSMUSG00000061875

Gene Name

olfactory receptor family 12 subfamily E member 13

Synonyms

Olfr1148, MOR264-7, GA_x6K02T2Q125-49334566-49335510

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL02247

Quality Score

Status

Chromosome

Chromosomal Location

87663385-87664329 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87663873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 163 (I163M)

Ref Sequence

ENSEMBL: ENSMUSP00000149438 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077580] [ENSMUST00000215230]

AlphaFold

Q7TR35

Predicted Effect

probably damaging
Transcript: ENSMUST00000077580
AA Change: I163M

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076778
Gene: ENSMUSG00000061875
AA Change: I163M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	314	4.1e-54	PFAM
Pfam:7tm_1	47	296	4.4e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215230
AA Change: I163M

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	A	G	2: 26,974,905 (GRCm39)	R177G	probably damaging	Het
Ap3b1	T	C	13: 94,531,303 (GRCm39)		probably null	Het
Ascc3	A	C	10: 50,526,686 (GRCm39)	K595T	probably damaging	Het
Cnpy4	A	G	5: 138,191,125 (GRCm39)	T234A	probably benign	Het
Col13a1	T	C	10: 61,797,124 (GRCm39)	Y101C	probably damaging	Het
Crybg3	A	G	16: 59,323,513 (GRCm39)	I2809T	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dgkz	T	C	2: 91,767,805 (GRCm39)	S824G	probably benign	Het
Dsg1c	T	A	18: 20,397,373 (GRCm39)	I27N	probably damaging	Het
Efhb	C	T	17: 53,708,652 (GRCm39)	V673I	probably benign	Het
Egr1	T	C	18: 34,995,916 (GRCm39)	Y233H	possibly damaging	Het
Fam184a	T	C	10: 53,551,256 (GRCm39)	E237G	probably damaging	Het
Galt	A	G	4: 41,755,623 (GRCm39)		probably benign	Het
Gm4795	T	C	10: 44,883,211 (GRCm39)		noncoding transcript	Het
Gm6563	G	A	19: 23,653,392 (GRCm39)	E61K	possibly damaging	Het
Igkv1-133	G	A	6: 67,702,590 (GRCm39)	V103M	probably damaging	Het
Iqcb1	T	A	16: 36,660,258 (GRCm39)	H140Q	probably benign	Het
Itpk1	G	T	12: 102,589,668 (GRCm39)	P74Q	probably damaging	Het
Itpr3	T	A	17: 27,317,153 (GRCm39)	W803R	probably damaging	Het
Lgr4	A	T	2: 109,832,846 (GRCm39)	D312V	probably benign	Het
Lgr4	C	T	2: 109,838,420 (GRCm39)		probably benign	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Mllt6	C	A	11: 97,561,158 (GRCm39)	A282E	probably benign	Het
Mtif2	T	C	11: 29,490,642 (GRCm39)	S449P	possibly damaging	Het
Nrg3	T	C	14: 38,093,269 (GRCm39)	I533M	probably damaging	Het
Nynrin	C	T	14: 56,109,167 (GRCm39)	Q1425*	probably null	Het
Or1e1f	A	T	11: 73,855,688 (GRCm39)	M85L	probably benign	Het
Or4n4b	T	A	14: 50,536,571 (GRCm39)	N65I	probably damaging	Het
Or4p22	C	T	2: 88,317,771 (GRCm39)	H232Y	probably benign	Het
Or56a3	T	A	7: 104,735,530 (GRCm39)	Y202*	probably null	Het
Or5b3	T	A	19: 13,388,831 (GRCm39)	S299R	probably benign	Het
Or7e175	G	A	9: 20,048,516 (GRCm39)	V35I	probably benign	Het
Plcb4	C	T	2: 135,836,245 (GRCm39)	T20I	possibly damaging	Het
Ppp1r12b	G	T	1: 134,763,721 (GRCm39)	T771K	probably benign	Het
Prss22	T	C	17: 24,215,363 (GRCm39)	T138A	probably benign	Het
Ros1	A	T	10: 52,005,677 (GRCm39)	S907T	probably damaging	Het
Rtel1	T	A	2: 180,993,134 (GRCm39)	Y521*	probably null	Het
Sacs	T	C	14: 61,429,984 (GRCm39)	F678S	probably damaging	Het
Smtnl1	A	T	2: 84,647,372 (GRCm39)		probably benign	Het
Sumf2	T	C	5: 129,888,986 (GRCm39)	V258A	probably damaging	Het
Tas1r2	A	T	4: 139,396,827 (GRCm39)	Y722F	probably damaging	Het
Tecpr1	A	G	5: 144,143,372 (GRCm39)	F668L	possibly damaging	Het
Timd4	T	C	11: 46,706,558 (GRCm39)	F120S	probably damaging	Het
Tnnt3	T	C	7: 142,062,062 (GRCm39)		probably benign	Het
Trp53bp1	G	A	2: 121,067,070 (GRCm39)	S552F	probably damaging	Het
Txlnb	G	A	10: 17,706,090 (GRCm39)	R333Q	possibly damaging	Het
Txlnb	A	G	10: 17,717,276 (GRCm39)		probably benign	Het
Uroc1	A	G	6: 90,324,910 (GRCm39)	E461G	probably benign	Het
Vps45	G	A	3: 95,950,236 (GRCm39)	T231I	probably damaging	Het
Zfp648	T	A	1: 154,079,923 (GRCm39)	S27R	probably benign	Het

Other mutations in Or12e13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01727:Or12e13	APN	2	87,663,844 (GRCm39)	missense	probably damaging	1.00
IGL01893:Or12e13	APN	2	87,664,207 (GRCm39)	nonsense	probably null
IGL02286:Or12e13	APN	2	87,663,592 (GRCm39)	missense	probably damaging	0.99
IGL02645:Or12e13	APN	2	87,663,959 (GRCm39)	missense	probably benign	0.21
R1304:Or12e13	UTSW	2	87,664,049 (GRCm39)	missense	possibly damaging	0.51
R1762:Or12e13	UTSW	2	87,664,009 (GRCm39)	missense	probably damaging	0.98
R1770:Or12e13	UTSW	2	87,663,643 (GRCm39)	missense	probably benign	0.05
R4308:Or12e13	UTSW	2	87,663,614 (GRCm39)	missense	probably damaging	0.99
R4721:Or12e13	UTSW	2	87,663,515 (GRCm39)	missense	probably damaging	1.00
R6011:Or12e13	UTSW	2	87,664,259 (GRCm39)	missense	probably damaging	1.00
R6225:Or12e13	UTSW	2	87,663,661 (GRCm39)	missense	probably benign	0.04
R6243:Or12e13	UTSW	2	87,663,385 (GRCm39)	start codon destroyed	probably null	0.00
R6367:Or12e13	UTSW	2	87,663,937 (GRCm39)	missense	probably damaging	1.00
R7379:Or12e13	UTSW	2	87,664,123 (GRCm39)	missense	probably damaging	1.00
R7510:Or12e13	UTSW	2	87,663,872 (GRCm39)	missense	probably damaging	0.97
R7967:Or12e13	UTSW	2	87,663,863 (GRCm39)	missense	possibly damaging	0.76
R8003:Or12e13	UTSW	2	87,664,081 (GRCm39)	missense	probably benign	0.00
R8177:Or12e13	UTSW	2	87,663,512 (GRCm39)	missense	probably benign	0.07
R8986:Or12e13	UTSW	2	87,663,655 (GRCm39)	missense	possibly damaging	0.71
R9149:Or12e13	UTSW	2	87,663,523 (GRCm39)	nonsense	probably null
R9308:Or12e13	UTSW	2	87,663,523 (GRCm39)	missense	probably damaging	1.00
R9489:Or12e13	UTSW	2	87,663,478 (GRCm39)	missense	probably benign	0.04
R9605:Or12e13	UTSW	2	87,663,478 (GRCm39)	missense	probably benign	0.04
R9740:Or12e13	UTSW	2	87,663,895 (GRCm39)	missense	probably damaging	1.00
X0050:Or12e13	UTSW	2	87,663,878 (GRCm39)	frame shift	probably null

Posted On

2015-04-16