Mutagenetix > Incidental Mutation

Incidental Mutation 'R7880:Or12e1'

608676

Institutional Source

Beutler Lab

Gene Symbol

Or12e1

Ensembl Gene

ENSMUSG00000044487

Gene Name

olfactory receptor family 12 subfamily E member 1

Synonyms

MOR264-6, GA_x6K02T2Q125-48676316-48677272, Olfr1112

MMRRC Submission

045932-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R7880 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87022033-87022989 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 87022434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 134 (C134*)

Ref Sequence

ENSEMBL: ENSMUSP00000149960 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053050] [ENSMUST00000216772]

AlphaFold

A2ATA0

Predicted Effect

probably null
Transcript: ENSMUST00000053050
AA Change: C134*

SMART Domains

Protein: ENSMUSP00000052341
Gene: ENSMUSG00000044487
AA Change: C134*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	38	315	2.4e-52	PFAM
Pfam:7tm_1	48	297	1.4e-22	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000216772
AA Change: C134*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	T	A	7: 133,511,691 (GRCm39)	D703V	possibly damaging	Het
Adamts1	G	A	16: 85,594,940 (GRCm39)	R340*	probably null	Het
Akap13	A	G	7: 75,235,964 (GRCm39)	T180A	probably damaging	Het
Arhgap31	G	A	16: 38,423,087 (GRCm39)	A993V	probably benign	Het
Asxl3	C	T	18: 22,655,208 (GRCm39)	P1073S	possibly damaging	Het
Bmp3	T	G	5: 99,020,434 (GRCm39)	S286A	probably damaging	Het
Cacna2d4	C	T	6: 119,326,116 (GRCm39)	S1078F	probably damaging	Het
Cd101	A	G	3: 100,915,182 (GRCm39)	L799P	probably benign	Het
Chst13	C	T	6: 90,302,062 (GRCm39)	R28H	possibly damaging	Het
CN725425	T	A	15: 91,130,308 (GRCm39)	C390*	probably null	Het
Crabp1	C	A	9: 54,672,942 (GRCm39)	C82*	probably null	Het
Cyp2b23	A	C	7: 26,372,559 (GRCm39)	V352G	probably damaging	Het
Dmrta1	T	A	4: 89,577,081 (GRCm39)	V179E	possibly damaging	Het
Ect2l	T	C	10: 18,012,702 (GRCm39)	D839G	possibly damaging	Het
Espnl	A	T	1: 91,272,488 (GRCm39)	E616V	possibly damaging	Het
Fam50b	C	A	13: 34,930,802 (GRCm39)	Q93K	probably benign	Het
Focad	C	T	4: 88,319,407 (GRCm39)	R1539C	unknown	Het
Gm14443	T	A	2: 175,011,163 (GRCm39)	I428L	probably benign	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gramd1c	C	G	16: 43,812,439 (GRCm39)	A193P	probably benign	Het
Gsn	A	G	2: 35,173,939 (GRCm39)	H54R	probably damaging	Het
Gucy2g	T	A	19: 55,194,712 (GRCm39)	I902F	probably damaging	Het
H2-T9	T	A	17: 36,438,761 (GRCm39)	H210L	possibly damaging	Het
Heg1	T	C	16: 33,539,879 (GRCm39)	S280P	possibly damaging	Het
Herc1	G	T	9: 66,415,506 (GRCm39)	R4827L	probably damaging	Het
Igsf21	A	G	4: 139,884,819 (GRCm39)	C46R	probably damaging	Het
Kansl1	G	T	11: 104,314,979 (GRCm39)	A353D	probably damaging	Het
Kcnab3	A	G	11: 69,222,290 (GRCm39)	Y311C	probably damaging	Het
Kctd18	A	G	1: 58,006,778 (GRCm39)	I24T	possibly damaging	Het
Lpcat4	C	A	2: 112,070,376 (GRCm39)	H30N	probably benign	Het
Lrrc4c	A	G	2: 97,461,143 (GRCm39)	I590V	probably benign	Het
Lrrc69	T	C	4: 14,703,946 (GRCm39)	I291M	possibly damaging	Het
Nsun6	A	C	2: 15,001,190 (GRCm39)	C455W	probably damaging	Het
Or4c3	A	T	2: 89,852,381 (GRCm39)	F10I	probably damaging	Het
Or5ak22	G	T	2: 85,230,379 (GRCm39)	S166Y	possibly damaging	Het
Or7g19	T	G	9: 18,856,024 (GRCm39)	L27V	probably benign	Het
Orc6	T	C	8: 86,031,873 (GRCm39)	I162T	probably benign	Het
Pex13	A	T	11: 23,599,369 (GRCm39)	S381T	probably benign	Het
Ppil1	G	A	17: 29,480,762 (GRCm39)	H54Y	probably damaging	Het
Prrt4	T	C	6: 29,170,155 (GRCm39)	I766V	probably benign	Het
Rab32	C	T	10: 10,422,159 (GRCm39)	V187M	probably damaging	Het
Sema5a	T	A	15: 32,686,954 (GRCm39)	I1022N	probably damaging	Het
Sipa1l2	T	C	8: 126,191,132 (GRCm39)	T953A	probably damaging	Het
Snapc3	T	C	4: 83,353,431 (GRCm39)	S157P	probably damaging	Het
Spink5	A	G	18: 44,119,393 (GRCm39)	R235G	probably benign	Het
Stx5a	G	A	19: 8,719,692 (GRCm39)	G19D	probably damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Taf4	G	A	2: 179,577,726 (GRCm39)	R532*	probably null	Het
Tmpo	T	A	10: 91,001,892 (GRCm39)	K106*	probably null	Het
Trnt1	T	C	6: 106,746,517 (GRCm39)		probably null	Het
Vmn1r228	A	T	17: 20,996,672 (GRCm39)	I282N	probably damaging	Het
Vps13d	A	T	4: 144,907,684 (GRCm39)		probably null	Het
Zfp703	A	G	8: 27,468,718 (GRCm39)	I51V	unknown	Het
Zfp787	A	G	7: 6,135,190 (GRCm39)	F354L	probably benign	Het
Znrf2	T	C	6: 54,794,332 (GRCm39)	V111A	probably benign	Het
Zwint	G	T	10: 72,492,924 (GRCm39)	R182L	probably benign	Het

Other mutations in Or12e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01453:Or12e1	APN	2	87,022,192 (GRCm39)	missense	probably benign	0.00
R0665:Or12e1	UTSW	2	87,022,652 (GRCm39)	missense	probably damaging	1.00
R1698:Or12e1	UTSW	2	87,022,081 (GRCm39)	missense	probably benign	0.00
R1717:Or12e1	UTSW	2	87,022,247 (GRCm39)	missense	probably benign	0.38
R1768:Or12e1	UTSW	2	87,022,042 (GRCm39)	missense	probably benign
R1872:Or12e1	UTSW	2	87,022,222 (GRCm39)	missense	possibly damaging	0.96
R3441:Or12e1	UTSW	2	87,022,162 (GRCm39)	missense	probably benign	0.00
R4017:Or12e1	UTSW	2	87,022,846 (GRCm39)	missense	probably benign	0.03
R4895:Or12e1	UTSW	2	87,022,192 (GRCm39)	missense	probably benign	0.00
R5451:Or12e1	UTSW	2	87,022,796 (GRCm39)	missense	probably damaging	1.00
R6171:Or12e1	UTSW	2	87,022,709 (GRCm39)	missense	possibly damaging	0.77
R6851:Or12e1	UTSW	2	87,022,813 (GRCm39)	missense	probably benign	0.37
R7263:Or12e1	UTSW	2	87,022,476 (GRCm39)	nonsense	probably null
R7622:Or12e1	UTSW	2	87,022,594 (GRCm39)	missense	probably benign	0.01
R7659:Or12e1	UTSW	2	87,022,709 (GRCm39)	missense	possibly damaging	0.77
R7798:Or12e1	UTSW	2	87,022,636 (GRCm39)	missense	probably benign	0.00
R8430:Or12e1	UTSW	2	87,022,564 (GRCm39)	missense	possibly damaging	0.70
R8503:Or12e1	UTSW	2	87,022,653 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATAAGAGCTGACCCTTCCCTGC -3'
(R):5'- GGACTGGAGGTATGTCACAG -3'

Sequencing Primer
(F):5'- TCCCTGCAAACTCCCATGTAC -3'
(R):5'- TGTCACAGAAAAAGTGATTCAGCTG -3'

Posted On

2019-12-20