Mutagenetix > Incidental Mutation

Incidental Mutation 'R7242:Or12e8'

563260

Institutional Source

Beutler Lab

Gene Symbol

Or12e8

Ensembl Gene

ENSMUSG00000081234

Gene Name

olfactory receptor family 12 subfamily E member 8

Synonyms

Olfr1120, MOR264-2, GA_x6K02T2Q125-48849180-48850100

MMRRC Submission

045349-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.275) question?

Stock #

R7242 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87187790-87188734 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87188426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 213 (V213I)

Ref Sequence

ENSEMBL: ENSMUSP00000149911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058737] [ENSMUST00000215163]

AlphaFold

Q8VGT7

Predicted Effect

probably benign
Transcript: ENSMUST00000058737
AA Change: V213I

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000051931
Gene: ENSMUSG00000081234
AA Change: V213I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	314	1.1e-54	PFAM
Pfam:7tm_1	47	296	7.2e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215163
AA Change: V213I

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (73/73)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,121,677 (GRCm39)	I74N	probably damaging	Het
Abca6	A	T	11: 110,132,479 (GRCm39)	V272D	possibly damaging	Het
Acot11	A	T	4: 106,619,690 (GRCm39)	S163R	probably benign	Het
Adcy5	T	C	16: 34,977,205 (GRCm39)	L246P	probably damaging	Het
Adgra1	A	T	7: 139,427,573 (GRCm39)		probably null	Het
Adgra2	A	G	8: 27,612,055 (GRCm39)	T1335A	probably damaging	Het
Aoc1l2	A	T	6: 48,908,062 (GRCm39)	Y354F	probably damaging	Het
Armt1	T	C	10: 4,403,475 (GRCm39)	S187P	probably damaging	Het
Azin1	T	C	15: 38,501,749 (GRCm39)	M1V	probably null	Het
B430305J03Rik	C	T	3: 61,271,256 (GRCm39)	C163Y	unknown	Het
Cables1	T	C	18: 11,973,064 (GRCm39)	S68P	possibly damaging	Het
Cacna1d	A	G	14: 29,900,663 (GRCm39)	F341L	probably benign	Het
Ccdc90b	T	A	7: 92,221,776 (GRCm39)	H118Q	probably damaging	Het
Ccn5	T	C	2: 163,670,772 (GRCm39)	F93S	probably benign	Het
Celf1	T	A	2: 90,833,602 (GRCm39)	C119*	probably null	Het
Cfap57	C	T	4: 118,450,293 (GRCm39)	V610M	possibly damaging	Het
Chrm4	T	A	2: 91,757,595 (GRCm39)	M1K	probably null	Het
Chrnd	C	T	1: 87,125,201 (GRCm39)	T418I	probably damaging	Het
Coch	G	T	12: 51,640,344 (GRCm39)		probably benign	Het
Cop1	A	G	1: 159,112,118 (GRCm39)	T345A	probably benign	Het
Cops6	A	G	5: 138,161,842 (GRCm39)	T96A	probably benign	Het
Corin	T	C	5: 72,462,398 (GRCm39)	I945V	probably benign	Het
Cyp2c67	G	T	19: 39,605,783 (GRCm39)	T371N	probably benign	Het
Dap	T	A	15: 31,273,454 (GRCm39)	*103R	probably null	Het
Defb35	T	A	8: 22,430,773 (GRCm39)	V49E	unknown	Het
Dmtf1	T	A	5: 9,199,016 (GRCm39)	D39V	possibly damaging	Het
Dmtn	T	C	14: 70,855,460 (GRCm39)	T10A	probably damaging	Het
Dnajc1	C	T	2: 18,298,783 (GRCm39)	E264K	probably benign	Het
Dtx3l	A	T	16: 35,753,771 (GRCm39)	N278K	possibly damaging	Het
Fam161a	T	A	11: 22,970,037 (GRCm39)	S72T	possibly damaging	Het
Fnbp4	T	A	2: 90,576,140 (GRCm39)	S114T	unknown	Het
Focad	T	G	4: 88,228,143 (GRCm39)	I784S	unknown	Het
Fzd8	A	T	18: 9,214,171 (GRCm39)	T418S	probably damaging	Het
Gclc	A	G	9: 77,692,653 (GRCm39)	Y264C	probably benign	Het
Ggn	G	A	7: 28,872,459 (GRCm39)	C649Y	possibly damaging	Het
Gys1	A	G	7: 45,089,092 (GRCm39)		probably null	Het
Hsd3b1	T	C	3: 98,760,526 (GRCm39)	Y155C	probably damaging	Het
Htatip2	A	G	7: 49,422,354 (GRCm39)	K191E	probably benign	Het
Ik	A	T	18: 36,881,275 (GRCm39)	S79C	probably null	Het
Kin	G	A	2: 10,096,604 (GRCm39)	R151Q	probably benign	Het
Kpna2rt	G	A	17: 90,217,563 (GRCm39)	T61I	probably benign	Het
Mast4	A	G	13: 102,874,986 (GRCm39)	S1461P	probably damaging	Het
Melk	T	A	4: 44,360,885 (GRCm39)	V555E	probably damaging	Het
Met	G	A	6: 17,491,316 (GRCm39)	C26Y	probably damaging	Het
Mfsd6	A	T	1: 52,748,633 (GRCm39)	F77L	probably damaging	Het
Mib1	T	A	18: 10,741,011 (GRCm39)	D86E	probably damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Or56b1b	T	G	7: 108,164,919 (GRCm39)	S28R	probably benign	Het
Or7a36	A	T	10: 78,820,331 (GRCm39)	K236*	probably null	Het
Or8g21	A	G	9: 38,906,437 (GRCm39)	I98T	probably benign	Het
Patj	A	T	4: 98,480,170 (GRCm39)	I1296L	probably benign	Het
Pcdh1	C	T	18: 38,336,270 (GRCm39)	V122M	probably benign	Het
Pcdhac2	A	T	18: 37,277,946 (GRCm39)	I309F	possibly damaging	Het
Phf8-ps	A	G	17: 33,286,101 (GRCm39)	Y234H	probably damaging	Het
Phtf1	A	G	3: 103,906,012 (GRCm39)	S565G	probably damaging	Het
Plekha2	A	C	8: 25,578,411 (GRCm39)	F30V	probably damaging	Het
Ptbp1	A	G	10: 79,692,222 (GRCm39)	M20V	unknown	Het
Pth2r	A	G	1: 65,427,779 (GRCm39)	D484G	probably benign	Het
Rapgef2	G	A	3: 78,995,210 (GRCm39)	Q665*	probably null	Het
Scamp1	G	A	13: 94,369,648 (GRCm39)	T59I	probably benign	Het
Sema4a	T	A	3: 88,357,416 (GRCm39)	D230V	probably damaging	Het
Snw1	C	T	12: 87,515,415 (GRCm39)	G45R	possibly damaging	Het
Sox30	T	A	11: 45,875,347 (GRCm39)		probably null	Het
Sspo	T	A	6: 48,450,886 (GRCm39)	I2665K	probably benign	Het
Stx5a	T	A	19: 8,732,641 (GRCm39)	W437R	unknown	Het
Tln1	A	G	4: 43,542,602 (GRCm39)	V1402A	probably benign	Het
Tpm1	A	G	9: 66,935,383 (GRCm39)	L244P	probably benign	Het
Try5	T	A	6: 41,290,388 (GRCm39)	E32V	probably benign	Het
Ttn	T	C	2: 76,552,073 (GRCm39)	N31188S	probably benign	Het
Tulp1	T	C	17: 28,582,379 (GRCm39)		probably null	Het
Usp13	T	G	3: 32,919,892 (GRCm39)		probably null	Het
Vax2	A	G	6: 83,688,298 (GRCm39)	E7G	possibly damaging	Het
Vmn2r45	A	T	7: 8,488,612 (GRCm39)	Y139*	probably null	Het
Zfp423	T	C	8: 88,631,155 (GRCm39)	D21G	probably benign	Het

Other mutations in Or12e8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01142:Or12e8	APN	2	87,187,889 (GRCm39)	missense	possibly damaging	0.82
IGL01680:Or12e8	APN	2	87,188,249 (GRCm39)	missense	probably damaging	1.00
IGL02210:Or12e8	APN	2	87,188,347 (GRCm39)	missense	probably damaging	1.00
R0624:Or12e8	UTSW	2	87,188,026 (GRCm39)	nonsense	probably null
R0849:Or12e8	UTSW	2	87,188,609 (GRCm39)	missense	probably benign	0.00
R1298:Or12e8	UTSW	2	87,188,414 (GRCm39)	missense	probably benign	0.20
R2309:Or12e8	UTSW	2	87,188,298 (GRCm39)	missense	probably damaging	1.00
R4237:Or12e8	UTSW	2	87,188,597 (GRCm39)	missense	probably damaging	1.00
R4291:Or12e8	UTSW	2	87,188,419 (GRCm39)	missense	probably benign	0.00
R5679:Or12e8	UTSW	2	87,187,889 (GRCm39)	missense	possibly damaging	0.82
R5939:Or12e8	UTSW	2	87,188,048 (GRCm39)	missense	possibly damaging	0.55
R6269:Or12e8	UTSW	2	87,677,218 (GRCm39)	missense	possibly damaging	0.65
R6551:Or12e8	UTSW	2	87,677,005 (GRCm39)	missense	possibly damaging	0.89
R7024:Or12e8	UTSW	2	87,188,066 (GRCm39)	missense	probably benign	0.06
R7359:Or12e8	UTSW	2	87,188,555 (GRCm39)	missense	possibly damaging	0.77
R7444:Or12e8	UTSW	2	87,188,444 (GRCm39)	missense	possibly damaging	0.94
R7488:Or12e8	UTSW	2	87,188,597 (GRCm39)	missense	probably damaging	1.00
R7646:Or12e8	UTSW	2	87,188,102 (GRCm39)	missense	probably benign	0.00
R7711:Or12e8	UTSW	2	87,187,871 (GRCm39)	missense	probably benign	0.02
R8963:Or12e8	UTSW	2	87,187,950 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGGTCATGAATCCAACAAAGTGC -3'
(R):5'- GAATGAATGGACTTTGGCCTC -3'

Sequencing Primer
(F):5'- AAAGTGCACTCAGCTGGCTG -3'
(R):5'- AATGGACTTTGGCCTCAAGTAG -3'

Posted On

2019-06-26