Mutagenetix > Incidental Mutation

Incidental Mutation 'R8986:Or12e13'

684009

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

Accession Numbers

Essential gene?

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

Stock #

R8986 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87663385-87664329 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87663655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 91 (I91F)

Ref Sequence

ENSEMBL: ENSMUSP00000149438 (fasta)

Gene Model

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

AlphaFold

Q7TR35

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077580
AA Change: I91F

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000076778
Gene: ENSMUSG00000061875
AA Change: I91F

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

possibly damaging
Transcript: ENSMUST00000215230
AA Change: I91F

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (57/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Adamts10	C	T	17: 33,762,668 (GRCm39)	A549V	probably benign	Het
Akap13	T	C	7: 75,259,074 (GRCm39)	M566T	probably benign	Het
Alb	A	G	5: 90,615,225 (GRCm39)	T246A	probably benign	Het
Cyfip1	C	T	7: 55,558,140 (GRCm39)	R806C	probably damaging	Het
Cyp11a1	T	A	9: 57,925,644 (GRCm39)	I195N	probably damaging	Het
Dclre1a	C	G	19: 56,526,826 (GRCm39)	Q863H		Het
Ddx19a	A	G	8: 111,705,188 (GRCm39)	V311A	probably benign	Het
Dnajc13	A	T	9: 104,057,330 (GRCm39)	F1557I	probably damaging	Het
Eml6	T	A	11: 29,755,181 (GRCm39)	T865S	possibly damaging	Het
Esrrg	T	A	1: 187,943,104 (GRCm39)	I382K	possibly damaging	Het
Fam149a	G	A	8: 45,811,837 (GRCm39)	T22M		Het
Fam227b	A	T	2: 125,958,019 (GRCm39)	Y249N	probably damaging	Het
Fanci	G	A	7: 79,095,472 (GRCm39)	V1217I	probably benign	Het
Fermt2	A	G	14: 45,742,023 (GRCm39)	Y108H	probably benign	Het
Gkn1	A	T	6: 87,325,160 (GRCm39)	V83E	probably damaging	Het
Glmp	T	A	3: 88,233,002 (GRCm39)	S47T	probably benign	Het
Greb1	T	C	12: 16,734,457 (GRCm39)	H1511R	probably damaging	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Htra3	A	T	5: 35,836,372 (GRCm39)	C107S	probably damaging	Het
Ighv1-58	T	C	12: 115,275,835 (GRCm39)	Q101R	probably benign	Het
Ighv6-5	A	T	12: 114,380,382 (GRCm39)	L45*	probably null	Het
Igtp	T	A	11: 58,096,947 (GRCm39)		probably null	Het
Il1rap	T	C	16: 26,533,696 (GRCm39)	S531P	probably damaging	Het
Kcnd3	A	T	3: 105,367,039 (GRCm39)	H303L	probably damaging	Het
Kcnj3	G	T	2: 55,485,039 (GRCm39)	S379I	probably benign	Het
Lrrc36	T	C	8: 106,176,093 (GRCm39)	S156P	possibly damaging	Het
Mical3	G	T	6: 120,991,822 (GRCm39)	D250E		Het
Msh3	T	C	13: 92,483,334 (GRCm39)	T270A	probably damaging	Het
Myrfl	A	G	10: 116,658,746 (GRCm39)	W404R	probably damaging	Het
Nol7	T	C	13: 43,554,985 (GRCm39)	F206S	probably damaging	Het
Obi1	T	C	14: 104,745,418 (GRCm39)	H86R	probably damaging	Het
Or2ag1	A	G	7: 106,473,050 (GRCm39)	I134T	probably benign	Het
Paox	A	G	7: 139,706,503 (GRCm39)	E141G	probably benign	Het
Plod1	A	T	4: 147,997,734 (GRCm39)	H658Q	probably damaging	Het
Pou4f1	T	C	14: 104,704,087 (GRCm39)	D115G	probably damaging	Het
Ppp1r26	G	T	2: 28,342,802 (GRCm39)	E811*	probably null	Het
Qsox1	C	T	1: 155,666,829 (GRCm39)	R220K	probably damaging	Het
Rabgap1l	C	T	1: 160,085,105 (GRCm39)	V781I	probably damaging	Het
Rad50	T	C	11: 53,541,354 (GRCm39)	D1294G	possibly damaging	Het
Rbp7	C	T	4: 149,537,371 (GRCm39)	V97I	probably benign	Het
Rrad	C	T	8: 105,355,222 (GRCm39)	R262Q	possibly damaging	Het
Sdcbp2	T	C	2: 151,429,150 (GRCm39)	V183A	probably benign	Het
Slfn2	C	G	11: 82,960,427 (GRCm39)	I135M	possibly damaging	Het
Sntg1	T	A	1: 8,484,491 (GRCm39)	D443V	possibly damaging	Het
Tas2r105	G	A	6: 131,663,913 (GRCm39)	Q172*	probably null	Het
Tfdp2	A	G	9: 96,172,637 (GRCm39)	R44G	probably damaging	Het
Thbd	A	T	2: 148,248,480 (GRCm39)	C463S	probably damaging	Het
Tnxb	T	C	17: 34,897,646 (GRCm39)	V807A	possibly damaging	Het
Trim68	T	A	7: 102,327,808 (GRCm39)	K382*	probably null	Het
Vmn2r110	T	A	17: 20,803,823 (GRCm39)	I251F	probably damaging	Het
Vmn2r61	A	T	7: 41,915,325 (GRCm39)	R91*	probably null	Het
Vmn2r-ps117	G	A	17: 19,044,943 (GRCm39)	W453*	probably null	Het
Zc3h18	T	C	8: 123,134,193 (GRCm39)	V553A	unknown	Het
Zfp609	C	T	9: 65,610,561 (GRCm39)	A801T	possibly damaging	Het
Zfp791	A	G	8: 85,837,327 (GRCm39)	F179S	probably benign	Het
Zyg11a	A	T	4: 108,041,628 (GRCm39)		probably null	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
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
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'- CTCCAAGGATTTCTATTTGCAGTG -3'
(R):5'- TATCTGGACTGGGATGCCTC -3'

Sequencing Primer
(F):5'- CAAGGATTTCTATTTGCAGTGTTTTC -3'
(R):5'- CTGCCAGCTGTGTGCACTTTG -3'

Posted On

2021-10-11