Mutagenetix > Incidental Mutation

Incidental Mutation 'R6367:Or12e13'

512728

Institutional Source

Beutler Lab

Gene Symbol

Or12e13

Ensembl Gene

ENSMUSG00000061875

Gene Name

olfactory receptor family 12 subfamily E member 13

Synonyms

Olfr1148, MOR264-7, GA_x6K02T2Q125-49334566-49335510

MMRRC Submission

044517-MU

Accession Numbers

Essential gene?

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

Stock #

R6367 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87663385-87664329 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87663937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 185 (C185R)

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: C185R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076778
Gene: ENSMUSG00000061875
AA Change: C185R

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: C185R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

98% (44/45)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,166,248 (GRCm39)	N54D	possibly damaging	Het
Abca4	A	C	3: 121,897,229 (GRCm39)	Q636P	probably damaging	Het
Agk	T	C	6: 40,363,875 (GRCm39)	F285S	probably benign	Het
Als2	C	A	1: 59,238,299 (GRCm39)	V678L	probably benign	Het
Arhgap17	T	C	7: 122,907,586 (GRCm39)	*231W	probably null	Het
Atp11b	A	G	3: 35,838,686 (GRCm39)	T89A	probably damaging	Het
Axl	A	T	7: 25,486,858 (GRCm39)	C50S	probably damaging	Het
Cachd1	A	G	4: 100,860,167 (GRCm39)	D1246G	probably damaging	Het
Dip2b	A	T	15: 100,013,795 (GRCm39)	Q57L	possibly damaging	Het
Dnah14	A	G	1: 181,582,951 (GRCm39)		probably null	Het
Enpep	G	T	3: 129,125,730 (GRCm39)	T134N	possibly damaging	Het
Ets1	C	T	9: 32,645,256 (GRCm39)	Q168*	probably null	Het
Fanci	T	C	7: 79,075,943 (GRCm39)	C529R	probably damaging	Het
Fbxw28	A	G	9: 109,168,599 (GRCm39)		probably null	Het
Gucy2c	C	T	6: 136,686,776 (GRCm39)	E796K	probably damaging	Het
Igsf9b	G	A	9: 27,220,821 (GRCm39)	W62*	probably null	Het
Kcng1	C	A	2: 168,104,572 (GRCm39)	V425L	probably damaging	Het
Kndc1	T	C	7: 139,493,422 (GRCm39)	S463P	probably damaging	Het
Lrba	G	C	3: 86,275,869 (GRCm39)	A1746P	probably benign	Het
Mgat4c	G	T	10: 102,221,015 (GRCm39)		probably null	Het
Nckap1l	G	A	15: 103,384,149 (GRCm39)	M582I	probably benign	Het
Oacyl	G	T	18: 65,858,515 (GRCm39)	R207L	probably damaging	Het
Or2m12	C	T	16: 19,104,822 (GRCm39)	V224M	probably damaging	Het
Or4c52	A	G	2: 89,845,360 (GRCm39)	I29V	probably benign	Het
Or51f5	C	A	7: 102,424,036 (GRCm39)	Q102K	possibly damaging	Het
Pacsin2	C	T	15: 83,266,033 (GRCm39)	A55T	probably benign	Het
Plekhm2	T	C	4: 141,367,016 (GRCm39)	D208G	probably damaging	Het
Ptpru	T	C	4: 131,501,663 (GRCm39)	D1181G	probably benign	Het
Safb	A	G	17: 56,900,845 (GRCm39)		probably benign	Het
Scp2	T	A	4: 107,969,447 (GRCm39)	Y35F	probably damaging	Het
Secisbp2	A	G	13: 51,836,177 (GRCm39)	Y757C	probably damaging	Het
Sp110	C	T	1: 85,522,013 (GRCm39)	V97M	probably benign	Het
Ssx2ip	A	G	3: 146,124,921 (GRCm39)	Y82C	probably benign	Het
Svopl	A	T	6: 37,996,614 (GRCm39)	W288R	possibly damaging	Het
Tdg	T	C	10: 82,483,822 (GRCm39)	Y345H	possibly damaging	Het
Tmem109	A	G	19: 10,851,727 (GRCm39)	F53S	possibly damaging	Het
Tpsab1	G	T	17: 25,562,448 (GRCm39)	T293N	probably damaging	Het
Trpm8	A	G	1: 88,287,405 (GRCm39)	D796G	probably damaging	Het
Tuba1c	T	C	15: 98,935,334 (GRCm39)	I265T	probably damaging	Het
Unc80	T	C	1: 66,711,925 (GRCm39)	V2749A	probably benign	Het
Utrn	A	G	10: 12,623,719 (GRCm39)	L173P	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wbp2	G	T	11: 115,974,741 (GRCm39)	T31N	probably benign	Het
Wdr1	G	T	5: 38,703,189 (GRCm39)	A129D	possibly damaging	Het
Yod1	G	A	1: 130,645,275 (GRCm39)	G19S	probably damaging	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
IGL02247:Or12e13	APN	2	87,663,873 (GRCm39)	missense	probably damaging	0.97
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
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

Predicted Primers

PCR Primer
(F):5'- TGTCCTGTGCTACACAACTG -3'
(R):5'- ATGTGGAGAAGGCTTTTCCCC -3'

Sequencing Primer
(F):5'- ATGTCCTATGACCGATATGTGGCC -3'
(R):5'- CCCGACCTTTGGCTGTTGG -3'

Posted On

2018-04-27