Mutagenetix > Incidental Mutation

Incidental Mutation 'R7263:Or12e1'

564727

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

045388-MU

Accession Numbers

Essential gene?

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

Stock #

R7263 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87022033-87022989 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 87022476 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 148 (C148*)

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: C148*

SMART Domains

Protein: ENSMUSP00000052341
Gene: ENSMUSG00000044487
AA Change: C148*

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: C148*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

96% (67/70)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	A	3: 121,847,843 (GRCm39)	H55N	probably damaging	Het
Acan	G	T	7: 78,742,066 (GRCm39)	V488L	probably damaging	Het
Adam12	T	C	7: 133,521,240 (GRCm39)	E638G	possibly damaging	Het
Adamts20	T	A	15: 94,220,772 (GRCm39)	Q1387L	possibly damaging	Het
Adamts3	G	T	5: 89,825,601 (GRCm39)	D1079E	probably benign	Het
Barx1	G	T	13: 48,818,555 (GRCm39)	G93C	probably damaging	Het
Carmil2	C	T	8: 106,419,677 (GRCm39)	R828C	probably damaging	Het
Catsper4	TTCTC	TTC	4: 133,954,423 (GRCm39)		probably null	Het
Ccdc159	T	C	9: 21,843,007 (GRCm39)	M148T	probably benign	Het
Cdk5rap1	T	A	2: 154,202,652 (GRCm39)	N193Y	probably benign	Het
Csnk1g2	G	A	10: 80,470,332 (GRCm39)	G15D	probably damaging	Het
Dach1	T	C	14: 98,406,295 (GRCm39)	S151G	probably benign	Het
Elf5	C	A	2: 103,269,645 (GRCm39)	N75K	probably benign	Het
Elp3	T	C	14: 65,802,782 (GRCm39)	D272G	probably damaging	Het
Epb41l1	T	A	2: 156,337,043 (GRCm39)		probably null	Het
Epha6	A	G	16: 59,596,028 (GRCm39)	Y888H	probably damaging	Het
Fibcd1	T	C	2: 31,707,222 (GRCm39)	Y345C	probably damaging	Het
Gjd3	C	T	11: 102,690,963 (GRCm39)	E347K	possibly damaging	Het
Gse1	A	G	8: 121,300,910 (GRCm39)	D892G	unknown	Het
Gtpbp6	A	T	5: 110,251,915 (GRCm39)	I506N	probably benign	Het
Hivep1	T	A	13: 42,311,668 (GRCm39)	F1303I	possibly damaging	Het
Il21r	A	G	7: 125,232,077 (GRCm39)	T502A	probably benign	Het
Ints1	T	C	5: 139,749,834 (GRCm39)	T997A	possibly damaging	Het
Invs	C	A	4: 48,396,381 (GRCm39)	N351K	probably damaging	Het
Iqcm	A	G	8: 76,489,701 (GRCm39)	T390A	probably benign	Het
Iqcn	A	G	8: 71,163,425 (GRCm39)	N873D	possibly damaging	Het
Kcnh4	C	T	11: 100,632,643 (GRCm39)	G948D	probably benign	Het
Kcnh7	T	A	2: 62,566,314 (GRCm39)		probably null	Het
Lrrc72	A	G	12: 36,258,611 (GRCm39)	V82A	probably damaging	Het
Macf1	A	T	4: 123,271,943 (GRCm39)	L6535Q	probably damaging	Het
Ncor2	G	C	5: 125,109,196 (GRCm39)	L585V		Het
Nipal2	G	C	15: 34,578,904 (GRCm39)	Y298*	probably null	Het
Nipsnap1	C	T	11: 4,832,960 (GRCm39)		probably benign	Het
Or4x12-ps1	T	C	2: 89,916,332 (GRCm39)	I158V	not run	Het
Or51g1	A	T	7: 102,633,524 (GRCm39)	Y282*	probably null	Het
Pcdhga4	C	T	18: 37,819,873 (GRCm39)	T474I	probably benign	Het
Pdp1	G	T	4: 11,960,821 (GRCm39)	Q516K	possibly damaging	Het
Pik3c2b	C	T	1: 133,017,940 (GRCm39)	P934L	probably damaging	Het
Pp2d1	A	G	17: 53,822,358 (GRCm39)	I236T	probably benign	Het
Pygm	G	A	19: 6,438,357 (GRCm39)	R278H	probably damaging	Het
Rb1	A	T	14: 73,520,363 (GRCm39)	C215*	probably null	Het
Rgs22	A	G	15: 36,015,789 (GRCm39)	S1156P	possibly damaging	Het
Rgs9bp	T	C	7: 35,284,126 (GRCm39)	T174A	probably damaging	Het
Rnf133	A	T	6: 23,649,667 (GRCm39)	Y130*	probably null	Het
Sctr	G	A	1: 119,949,955 (GRCm39)	R48Q	probably benign	Het
Serpinb6e	A	T	13: 34,022,923 (GRCm39)	F153L	probably benign	Het
Slc22a1	A	T	17: 12,885,587 (GRCm39)	Y200N	probably damaging	Het
Slc22a22	C	A	15: 57,113,107 (GRCm39)	M377I	probably benign	Het
Slc36a4	A	G	9: 15,633,452 (GRCm39)		probably null	Het
Slc39a6	A	G	18: 24,734,260 (GRCm39)	V143A	probably benign	Het
Slf2	G	A	19: 44,926,863 (GRCm39)		probably null	Het
Sowaha	T	C	11: 53,370,485 (GRCm39)	K84E	probably benign	Het
Spef2	T	G	15: 9,653,098 (GRCm39)		probably null	Het
Sphkap	A	T	1: 83,254,399 (GRCm39)	F1117I	probably damaging	Het
Tas2r113	T	C	6: 132,870,539 (GRCm39)	I189T	possibly damaging	Het
Tescl	T	C	7: 24,033,247 (GRCm39)	E26G	possibly damaging	Het
Trpm6	A	T	19: 18,854,150 (GRCm39)	I1847F	probably damaging	Het
Uba1y	T	A	Y: 822,200 (GRCm39)	C178S	possibly damaging	Het
Ush2a	T	A	1: 188,175,526 (GRCm39)	V1208D	possibly damaging	Het
Usp13	G	C	3: 32,949,000 (GRCm39)	A446P	probably damaging	Het
Usp7	A	T	16: 8,514,588 (GRCm39)	C722S	possibly damaging	Het
Vmn1r52	A	G	6: 90,156,535 (GRCm39)	S280G	probably benign	Het
Vmn2r84	T	C	10: 130,225,077 (GRCm39)	K478E	probably damaging	Het
Zfp112	C	A	7: 23,824,952 (GRCm39)	L311I	probably benign	Het
Zfp180	G	T	7: 23,805,125 (GRCm39)	E515*	probably null	Het
Zfp518b	A	G	5: 38,829,671 (GRCm39)	I778T	probably damaging	Het
Zfp800	A	T	6: 28,243,662 (GRCm39)	H434Q	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
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
R7880:Or12e1	UTSW	2	87,022,434 (GRCm39)	nonsense	probably null
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'- TGTGTCAGTCACTCTGCCAAG -3'
(R):5'- TTTCACATAAGATGCAAGGATCAGC -3'

Sequencing Primer
(F):5'- GTCACTCTGCCAAGGTTATTAACAG -3'
(R):5'- GGGCAATCACATAAATTAGCATCTC -3'

Posted On

2019-06-26