Mutagenetix > Incidental Mutation

Incidental Mutation 'R5102:Or12e7'

392402

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

MMRRC Submission

042690-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R5102 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87287511-87288455 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87288138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 210 (M210L)

Ref Sequence

ENSEMBL: ENSMUSP00000150504 (fasta)

Gene Model

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

AlphaFold

Q7TR49

Predicted Effect

probably benign
Transcript: ENSMUST00000071355
AA Change: M210L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000071313
Gene: ENSMUSG00000058194
AA Change: M210L

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 benign
Transcript: ENSMUST00000213366
AA Change: M210L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.3%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox4	C	T	1: 58,279,937 (GRCm39)	R518C	probably damaging	Het
Apbb2	A	T	5: 66,469,592 (GRCm39)		probably null	Het
Arhgap45	C	T	10: 79,857,262 (GRCm39)	P254S	probably benign	Het
Arl4c	T	C	1: 88,629,322 (GRCm39)	D22G	probably damaging	Het
Asxl1	A	G	2: 153,242,875 (GRCm39)	T1142A	probably benign	Het
BC035044	T	C	6: 128,861,949 (GRCm39)		probably benign	Het
Bmp4	T	C	14: 46,621,458 (GRCm39)	N362S	probably damaging	Het
Cbll1	G	T	12: 31,537,912 (GRCm39)	T280N	probably damaging	Het
Cdh10	A	T	15: 18,986,971 (GRCm39)	T401S	probably benign	Het
Cmklr2	A	G	1: 63,222,326 (GRCm39)	V303A	probably damaging	Het
Cps1	A	T	1: 67,245,952 (GRCm39)	M1148L	probably benign	Het
Crybg1	T	C	10: 43,873,832 (GRCm39)	D1092G	probably damaging	Het
Cyth2	A	G	7: 45,460,126 (GRCm39)	S173P	probably damaging	Het
D6Ertd527e	A	T	6: 87,088,793 (GRCm39)	I319F	unknown	Het
Dchs1	A	T	7: 105,421,384 (GRCm39)	H345Q	probably benign	Het
Ddx50	A	T	10: 62,476,640 (GRCm39)	V211E	probably damaging	Het
Dlx6	AGG	AG	6: 6,865,180 (GRCm39)		probably null	Het
Dnajb5	G	A	4: 42,956,639 (GRCm39)	D109N	possibly damaging	Het
Dner	A	T	1: 84,383,691 (GRCm39)	N564K	probably damaging	Het
Fam234b	T	C	6: 135,186,282 (GRCm39)	S97P	probably benign	Het
Fam53b	G	A	7: 132,317,684 (GRCm39)	R60*	probably null	Het
Fmo3	T	G	1: 162,791,546 (GRCm39)	K244Q	probably benign	Het
Golim4	A	G	3: 75,810,579 (GRCm39)	I192T	possibly damaging	Het
Gprin1	T	C	13: 54,887,576 (GRCm39)	M233V	probably benign	Het
Gtf2f1	A	T	17: 57,310,626 (GRCm39)	V443D	probably damaging	Het
Hmgcs2	T	C	3: 98,187,786 (GRCm39)		probably benign	Het
Ide	T	A	19: 37,292,383 (GRCm39)	I271L	unknown	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Kif14	A	G	1: 136,444,141 (GRCm39)	I1378V	probably benign	Het
Lhx3	TCCTACGGGCCGGCCC	TCC	2: 26,091,435 (GRCm39)		probably null	Het
Lhx6	T	C	2: 35,984,222 (GRCm39)		probably null	Het
Lrp2	C	T	2: 69,319,502 (GRCm39)	G2007D	probably damaging	Het
Lrp5	T	C	19: 3,709,304 (GRCm39)	K142R	probably damaging	Het
Macroh2a1	C	G	13: 56,243,936 (GRCm39)		probably null	Het
Mrpl2	G	A	17: 46,960,964 (GRCm39)	R286Q	probably benign	Het
Mtrfr	A	G	5: 124,476,954 (GRCm39)	N83D	probably damaging	Het
Nacad	T	A	11: 6,548,528 (GRCm39)	D1402V	probably damaging	Het
Ndfip2	T	C	14: 105,535,539 (GRCm39)	I275T	possibly damaging	Het
Neb	A	C	2: 52,116,582 (GRCm39)	V4131G	possibly damaging	Het
Nfe2l1	G	A	11: 96,712,934 (GRCm39)	A83V	probably damaging	Het
Nos3	A	G	5: 24,576,625 (GRCm39)	D418G	probably damaging	Het
Or1n1b	T	A	2: 36,780,056 (GRCm39)	K268M	possibly damaging	Het
Plcd4	A	G	1: 74,604,313 (GRCm39)	T764A	probably damaging	Het
Plppr3	G	T	10: 79,701,220 (GRCm39)	P541T	possibly damaging	Het
Polr2a	A	G	11: 69,637,771 (GRCm39)	I191T	possibly damaging	Het
Pramel18	T	C	4: 101,766,436 (GRCm39)	F40S	probably damaging	Het
Rab11fip1	T	C	8: 27,646,402 (GRCm39)	K225E	probably damaging	Het
Rara	A	T	11: 98,857,185 (GRCm39)	Q64L	possibly damaging	Het
Rtkn	G	A	6: 83,126,754 (GRCm39)	V305M	probably damaging	Het
Sh2b1	A	C	7: 126,070,408 (GRCm39)	F399V	probably benign	Het
Slc7a4	T	C	16: 17,393,482 (GRCm39)	T106A	probably damaging	Het
Srcap	G	A	7: 127,129,795 (GRCm39)	G539D	probably damaging	Het
Stab1	C	T	14: 30,869,974 (GRCm39)		probably null	Het
Zfp267	G	A	3: 36,216,814 (GRCm39)	C55Y	possibly damaging	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
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
R7494:Or12e7	UTSW	2	87,287,912 (GRCm39)	missense	probably damaging	0.99
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'- GGTCATGAACCCAACAAAGTGC -3'
(R):5'- AGAATGGGTGGACTTTGGCC -3'

Sequencing Primer
(F):5'- AAAGTGCACTCAGCTGGC -3'
(R):5'- CCTCAAGTAGGTAATAGTAGCTGATC -3'

Posted On

2016-06-15