Mutagenetix > Incidental Mutation

Incidental Mutation 'R7659:Or12e1'

591412

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

045734-MU

Accession Numbers

Essential gene?

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

Stock #

R7659 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87022033-87022989 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87022709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 226 (V226E)

Ref Sequence

ENSEMBL: ENSMUSP00000149960 (fasta)

Gene Model

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

AlphaFold

A2ATA0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053050
AA Change: V226E

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000052341
Gene: ENSMUSG00000044487
AA Change: V226E

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

possibly damaging
Transcript: ENSMUST00000216772
AA Change: V226E

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh2	T	C	5: 121,707,023 (GRCm39)	E498G	probably damaging	Het
Ankar	T	C	1: 72,729,294 (GRCm39)	T284A	possibly damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Atp6v0a4	A	G	6: 38,048,907 (GRCm39)	I452T	probably damaging	Het
Azgp1	G	T	5: 137,985,775 (GRCm39)	A133S	probably damaging	Het
Bmp2k	T	C	5: 97,222,578 (GRCm39)	S667P	unknown	Het
C1qtnf9	T	A	14: 61,009,753 (GRCm39)	I3N	possibly damaging	Het
C530025M09Rik	T	G	2: 149,672,539 (GRCm39)	T199P	unknown	Het
Casc3	C	G	11: 98,700,699 (GRCm39)	R4G	unknown	Het
Cass4	A	G	2: 172,268,947 (GRCm39)	D343G	probably damaging	Het
Cenatac	T	C	9: 44,324,790 (GRCm39)	E164G	probably damaging	Het
Col6a3	T	A	1: 90,709,467 (GRCm39)	T2517S	unknown	Het
Dbr1	A	G	9: 99,458,663 (GRCm39)	T78A	probably damaging	Het
Dnah9	A	G	11: 65,880,606 (GRCm39)	F2664L	probably damaging	Het
Eif2ak1	T	C	5: 143,826,280 (GRCm39)	I431T	probably damaging	Het
Got1	A	G	19: 43,493,078 (GRCm39)	V281A	probably benign	Het
Gpld1	A	C	13: 25,163,964 (GRCm39)	R555S	probably benign	Het
Gpr149	T	C	3: 62,511,256 (GRCm39)	R248G	probably benign	Het
Hps3	G	A	3: 20,076,978 (GRCm39)	R395*	probably null	Het
Inpp5b	T	C	4: 124,689,219 (GRCm39)	L833P	probably damaging	Het
Itgb4	A	T	11: 115,870,557 (GRCm39)	S129C	probably damaging	Het
Kif1a	T	A	1: 92,974,542 (GRCm39)		probably benign	Het
Lgr4	T	A	2: 109,827,111 (GRCm39)	V205E	probably damaging	Het
Mbd3	T	C	10: 80,231,019 (GRCm39)	N96S	probably damaging	Het
Mcam	T	A	9: 44,048,067 (GRCm39)	C136S	unknown	Het
Mki67	A	G	7: 135,299,155 (GRCm39)	S1960P	probably damaging	Het
Mogs	G	A	6: 83,093,806 (GRCm39)		probably null	Het
Muc6	T	C	7: 141,216,973 (GRCm39)	T2567A	possibly damaging	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Nae1	A	G	8: 105,242,796 (GRCm39)	V432A	probably benign	Het
Nav3	T	G	10: 109,602,851 (GRCm39)	T1233P	probably benign	Het
Nme9	G	A	9: 99,352,910 (GRCm39)	A287T	possibly damaging	Het
Nmrk1	A	G	19: 18,613,499 (GRCm39)	I8V	probably benign	Het
Noa1	T	C	5: 77,457,237 (GRCm39)	N223D	not run	Het
Nr4a3	T	C	4: 48,051,269 (GRCm39)	Y8H	probably damaging	Het
Or1j15	T	A	2: 36,458,637 (GRCm39)	V9E	possibly damaging	Het
Or2b4	A	T	17: 38,116,054 (GRCm39)	Q6L	probably benign	Het
Or4n4b	T	C	14: 50,536,698 (GRCm39)	I23V	probably benign	Het
Or4p20	T	C	2: 88,254,270 (GRCm39)	Y33C	probably damaging	Het
Or52h2	T	C	7: 103,839,394 (GRCm39)	S7G	probably benign	Het
Or7g29	C	T	9: 19,286,854 (GRCm39)	A108T	probably benign	Het
Or8c9	T	C	9: 38,241,012 (GRCm39)	V40A	possibly damaging	Het
Otoa	T	A	7: 120,733,267 (GRCm39)	H711Q	probably benign	Het
Otogl	T	A	10: 107,612,981 (GRCm39)	E2048D	probably benign	Het
Paip1	C	T	13: 119,587,306 (GRCm39)	T390I	possibly damaging	Het
Pcdha3	A	G	18: 37,081,219 (GRCm39)	T654A	probably benign	Het
Pigg	G	A	5: 108,486,485 (GRCm39)	V713I	probably benign	Het
Ppt1	T	A	4: 122,730,126 (GRCm39)	H26Q	probably benign	Het
Prim1	T	C	10: 127,862,458 (GRCm39)		probably null	Het
Prmt7	G	T	8: 106,963,918 (GRCm39)	A271S	probably benign	Het
Ptprd	T	C	4: 76,047,153 (GRCm39)	D124G	probably benign	Het
Rad54l2	T	C	9: 106,590,777 (GRCm39)	K450E	probably benign	Het
Rasgrp2	G	T	19: 6,451,857 (GRCm39)	V13L	probably damaging	Het
Sapcd2	A	G	2: 25,265,978 (GRCm39)		probably null	Het
Siglecf	A	G	7: 43,001,194 (GRCm39)	Y54C	probably damaging	Het
Stk31	T	A	6: 49,400,340 (GRCm39)	N388K	probably benign	Het
Timm23	A	C	14: 31,920,935 (GRCm39)	Y52*	probably null	Het
Tm9sf1	A	T	14: 55,873,792 (GRCm39)	F569I	probably damaging	Het
Tmprss9	C	A	10: 80,728,843 (GRCm39)	A592E	probably damaging	Het
Trim30d	A	T	7: 104,121,554 (GRCm39)	V397E	probably benign	Het
Tshz1	A	T	18: 84,034,200 (GRCm39)	N69K	probably damaging	Het
Upk2	A	C	9: 44,364,808 (GRCm39)	S130R	probably damaging	Het
Vmn1r80	A	G	7: 11,926,977 (GRCm39)	Y29C	probably damaging	Het
Vmn2r96	T	C	17: 18,793,749 (GRCm39)	I31T	probably benign	Het
Zfp975	T	C	7: 42,311,848 (GRCm39)	Q255R	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
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'- GCAGCTGGCTGTTGGATAAG -3'
(R):5'- ATCATGGGGTTGAACAGTGG -3'

Sequencing Primer
(F):5'- AGGGTTCACATACTGGATCTTC -3'
(R):5'- GTTGAACAGTGGAGTCACAAC -3'

Posted On

2019-11-12