Mutagenetix > Incidental Mutation

Incidental Mutation 'R7494:Or12e7'

580974

Institutional Source

Beutler Lab

Gene Symbol

Or12e7

Ensembl Gene

ENSMUSG00000058194

Gene Name

olfactory receptor family 12 subfamily E member 7

Synonyms

Olfr1126, MOR264-5, GA_x6K02T2Q125-48959068-48960012

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R7494 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87287511-87288455 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87287912 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 134 (N134K)

Ref Sequence

ENSEMBL: ENSMUSP00000150504 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071355] [ENSMUST00000213366]

AlphaFold

Q7TR49

Predicted Effect

probably damaging
Transcript: ENSMUST00000071355
AA Change: N134K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071313
Gene: ENSMUSG00000058194
AA Change: N134K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	314	8.6e-52	PFAM
Pfam:7tm_1	47	296	8.9e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213366
AA Change: N134K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	G	A	11: 110,099,571 (GRCm39)	T992I	possibly damaging	Het
Adamts10	T	A	17: 33,768,352 (GRCm39)	C841*	probably null	Het
AI661453	C	T	17: 47,779,105 (GRCm39)	P944S	unknown	Het
Als2	G	A	1: 59,222,325 (GRCm39)		probably null	Het
Anapc2	A	G	2: 25,166,376 (GRCm39)	E381G	possibly damaging	Het
Ank3	T	C	10: 69,824,756 (GRCm39)	Y1142H		Het
Apip	A	T	2: 102,922,896 (GRCm39)	N238I	probably benign	Het
Cblc	A	T	7: 19,526,737 (GRCm39)	V165D	possibly damaging	Het
Cep295nl	T	A	11: 118,224,758 (GRCm39)	M29L	probably benign	Het
Clec12a	A	G	6: 129,330,362 (GRCm39)	I47V	possibly damaging	Het
Dpp9	T	C	17: 56,507,619 (GRCm39)	Y350C	probably damaging	Het
Enpp2	C	T	15: 54,773,554 (GRCm39)	G56R	probably damaging	Het
Epsti1	G	T	14: 78,166,194 (GRCm39)	E82D	probably benign	Het
Eri2	C	A	7: 119,385,304 (GRCm39)	C399F	probably damaging	Het
Ern1	T	C	11: 106,298,361 (GRCm39)	T672A	probably damaging	Het
Fbxo21	T	A	5: 118,138,388 (GRCm39)	C445S	possibly damaging	Het
Folh1	G	T	7: 86,368,907 (GRCm39)	T740K	probably damaging	Het
Gapt	A	G	13: 110,490,262 (GRCm39)	Y134H	probably damaging	Het
Gm19410	T	C	8: 36,262,684 (GRCm39)	S874P	probably damaging	Het
Gm2431	G	A	7: 141,811,547 (GRCm39)	P119L	unknown	Het
Gzmc	G	A	14: 56,469,785 (GRCm39)	Q172*	probably null	Het
Hoxa1	C	A	6: 52,134,571 (GRCm39)	V211F	probably damaging	Het
Hyou1	G	T	9: 44,300,706 (GRCm39)	R925L	probably benign	Het
Ift70a1	A	C	2: 75,810,242 (GRCm39)	F614V	probably damaging	Het
Ilvbl	A	G	10: 78,414,857 (GRCm39)	Y240C	possibly damaging	Het
Lama1	T	A	17: 68,118,441 (GRCm39)	F2551Y		Het
Lrrtm3	A	G	10: 63,924,958 (GRCm39)	Y70H	probably damaging	Het
Naa38	T	A	11: 69,287,126 (GRCm39)	C69S	probably damaging	Het
Or2t46	T	C	11: 58,472,038 (GRCm39)	S123P	probably damaging	Het
Or8k25	A	T	2: 86,243,592 (GRCm39)	I268N	probably benign	Het
Panx3	A	G	9: 37,572,608 (GRCm39)	L314P	probably damaging	Het
Polr2f	T	C	15: 79,028,865 (GRCm39)		probably null	Het
Prkcd	C	A	14: 30,331,150 (GRCm39)	R75L	probably benign	Het
Psap	A	C	10: 60,135,275 (GRCm39)	L313F	probably benign	Het
Psen1	T	A	12: 83,775,017 (GRCm39)	C263S	probably benign	Het
Ptma	GGAAGAAG	GGAAGAAGAAG	1: 86,457,261 (GRCm39)		probably benign	Het
Pura	T	A	18: 36,420,942 (GRCm39)	M243K	probably damaging	Het
Sec16b	T	C	1: 157,388,369 (GRCm39)	S579P	probably benign	Het
Septin1	T	A	7: 126,814,122 (GRCm39)	E338V	probably damaging	Het
Sgms1	A	G	19: 32,107,091 (GRCm39)	F255L	probably benign	Het
Slc4a2	A	G	5: 24,637,862 (GRCm39)	T353A	possibly damaging	Het
Smg6	T	C	11: 74,820,449 (GRCm39)	V240A	probably benign	Het
Sntg2	T	G	12: 30,279,633 (GRCm39)	D340A	possibly damaging	Het
Sun1	C	T	5: 139,221,475 (GRCm39)	P553S	probably benign	Het
Tas2r140	T	C	6: 40,468,254 (GRCm39)	V28A	probably damaging	Het
Tfcp2l1	T	C	1: 118,592,686 (GRCm39)	F323S	probably damaging	Het
Thoc2l	T	C	5: 104,666,284 (GRCm39)	Y269H	possibly damaging	Het
Tpcn2	G	A	7: 144,832,586 (GRCm39)	T90I	possibly damaging	Het
Ttn	A	T	2: 76,720,321 (GRCm39)	Y6968*	probably null	Het
Vmn2r44	A	T	7: 8,386,122 (GRCm39)	L39*	probably null	Het

Other mutations in Or12e7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Or12e7	APN	2	87,288,271 (GRCm39)	missense	probably damaging	1.00
IGL01875:Or12e7	APN	2	87,287,654 (GRCm39)	missense	probably damaging	0.99
IGL02207:Or12e7	APN	2	87,287,794 (GRCm39)	missense	probably benign	0.22
R0238:Or12e7	UTSW	2	87,288,381 (GRCm39)	missense	probably benign	0.00
R0238:Or12e7	UTSW	2	87,288,381 (GRCm39)	missense	probably benign	0.00
R0239:Or12e7	UTSW	2	87,288,381 (GRCm39)	missense	probably benign	0.00
R0239:Or12e7	UTSW	2	87,288,381 (GRCm39)	missense	probably benign	0.00
R0478:Or12e7	UTSW	2	87,288,370 (GRCm39)	missense	probably damaging	0.99
R1055:Or12e7	UTSW	2	87,287,781 (GRCm39)	small deletion	probably benign
R1438:Or12e7	UTSW	2	87,288,336 (GRCm39)	missense	probably benign	0.00
R1625:Or12e7	UTSW	2	87,288,016 (GRCm39)	missense	probably damaging	1.00
R1912:Or12e7	UTSW	2	87,287,727 (GRCm39)	missense	probably damaging	1.00
R3052:Or12e7	UTSW	2	87,288,247 (GRCm39)	missense	probably damaging	1.00
R4638:Or12e7	UTSW	2	87,288,327 (GRCm39)	missense	possibly damaging	0.60
R5102:Or12e7	UTSW	2	87,288,138 (GRCm39)	missense	probably benign
R5526:Or12e7	UTSW	2	87,288,109 (GRCm39)	missense	probably benign	0.01
R5825:Or12e7	UTSW	2	87,287,794 (GRCm39)	missense	probably benign	0.22
R5965:Or12e7	UTSW	2	87,288,381 (GRCm39)	missense	probably benign	0.14
R6505:Or12e7	UTSW	2	87,288,271 (GRCm39)	missense	probably damaging	1.00
R8081:Or12e7	UTSW	2	87,287,513 (GRCm39)	start codon destroyed	probably null	0.63
R9228:Or12e7	UTSW	2	87,287,907 (GRCm39)	missense	possibly damaging	0.87
R9337:Or12e7	UTSW	2	87,287,527 (GRCm39)	missense	probably benign
R9755:Or12e7	UTSW	2	87,287,719 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACTAGAATTGATCCTGCACTACAG -3'
(R):5'- ACAGGCCAGCTTGAGAATGG -3'

Sequencing Primer
(F):5'- CTCTGGAAATCTGTTATGTATCAGTC -3'
(R):5'- CCAGCTTGAGAATGGGAGGTAAGTC -3'

Posted On

2019-10-17