Mutagenetix > Incidental Mutation

Incidental Mutation 'R9755:Or12e7'

732664

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

Accession Numbers

Essential gene?

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

Stock #

R9755 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87287511-87288455 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87287719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 70 (A70E)

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: A70E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071313
Gene: ENSMUSG00000058194
AA Change: A70E

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: A70E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.1%
20x: 97.8%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	A	T	14: 54,889,292 (GRCm39)	M774K	probably damaging	Het
Adamts9	T	C	6: 92,856,922 (GRCm39)	R906G	probably benign	Het
Adgrl4	A	T	3: 151,216,418 (GRCm39)	T534S	probably benign	Het
Amph	A	T	13: 19,297,325 (GRCm39)	D357V	probably damaging	Het
Arhgap33	C	T	7: 30,227,926 (GRCm39)	V452I	possibly damaging	Het
B4galnt2	G	A	11: 95,774,801 (GRCm39)	Q160*	probably null	Het
C1galt1	T	G	6: 7,867,019 (GRCm39)	N288K	probably benign	Het
Cacna1c	T	C	6: 118,651,559 (GRCm39)	D967G	probably damaging	Het
Cacul1	C	T	19: 60,533,955 (GRCm39)	E216K	probably damaging	Het
Cenpq	A	T	17: 41,243,712 (GRCm39)	S45R	probably benign	Het
Cfap54	T	A	10: 92,757,230 (GRCm39)	M2216L	unknown	Het
Cfhr1	A	G	1: 139,487,889 (GRCm39)	F3S	probably benign	Het
Csf2rb	T	G	15: 78,232,824 (GRCm39)	Y710*	probably null	Het
Dhh	A	G	15: 98,792,939 (GRCm39)	V107A	possibly damaging	Het
Etl4	A	T	2: 20,790,048 (GRCm39)	T849S	probably benign	Het
Gnrh1	G	A	14: 67,986,699 (GRCm39)	E78K	possibly damaging	Het
Golga3	A	G	5: 110,340,847 (GRCm39)	T514A	probably benign	Het
Gramd1c	T	A	16: 43,803,879 (GRCm39)	K393N	probably benign	Het
Kcp	T	C	6: 29,492,460 (GRCm39)	Y844C	probably damaging	Het
Lrrc15	T	A	16: 30,093,147 (GRCm39)	H64L	possibly damaging	Het
Mak	G	T	13: 41,199,623 (GRCm39)	Q339K	probably benign	Het
Mdfic	G	T	6: 15,799,758 (GRCm39)	C295F	probably damaging	Het
Mdfic2	A	T	6: 98,225,147 (GRCm39)	N45K	probably benign	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Miip	A	T	4: 147,950,319 (GRCm39)	Y92*	probably null	Het
Mycbp2	A	T	14: 103,551,806 (GRCm39)	S175T	probably benign	Het
Nacad	A	G	11: 6,549,374 (GRCm39)		probably null	Het
Ndnf	T	G	6: 65,680,502 (GRCm39)	D260E	probably benign	Het
Nphp1	G	A	2: 127,595,951 (GRCm39)	Q505*	probably null	Het
Or8g29-ps1	A	G	9: 39,200,970 (GRCm39)	V72A	possibly damaging	Het
Plcg1	G	A	2: 160,573,780 (GRCm39)	G15D	probably benign	Het
Ppm1h	A	G	10: 122,638,165 (GRCm39)	Y145C	probably damaging	Het
Prickle2	C	T	6: 92,399,319 (GRCm39)	C186Y	probably damaging	Het
Prmt6	A	C	3: 110,157,359 (GRCm39)	L310R	probably damaging	Het
Psg25	A	T	7: 18,260,460 (GRCm39)	I146N	probably benign	Het
Sapcd1	A	G	17: 35,245,400 (GRCm39)	S128P	probably benign	Het
Scart2	T	A	7: 139,841,544 (GRCm39)		probably null	Het
Sema3b	T	C	9: 107,478,784 (GRCm39)	S331G	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Skil	A	G	3: 31,151,544 (GRCm39)	E22G	probably benign	Het
Slc13a1	T	C	6: 24,134,407 (GRCm39)	I159V	probably benign	Het
Slc44a4	A	G	17: 35,136,331 (GRCm39)	I41V	probably benign	Het
Taar2	T	C	10: 23,817,038 (GRCm39)	F193L	probably damaging	Het
Taar8a	A	G	10: 23,952,995 (GRCm39)	I200V	probably benign	Het
Trpc4	A	G	3: 54,223,215 (GRCm39)	Y717C	probably damaging	Het
Vmn2r116	A	T	17: 23,620,065 (GRCm39)	T600S	probably damaging	Het
Vwa1	G	A	4: 155,857,336 (GRCm39)	P154L	probably damaging	Het
Zfp318	A	G	17: 46,722,055 (GRCm39)	T1353A	probably damaging	Het
Zfp830	C	T	11: 82,655,805 (GRCm39)	T203I	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
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
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

Predicted Primers

PCR Primer
(F):5'- GACAATGCTTCCACTGTGACAG -3'
(R):5'- TCATGACCAGAGGATAGTGCAG -3'

Sequencing Primer
(F):5'- AATGCTTCCACTGTGACAGAGTTTC -3'
(R):5'- TTGCAGATGGCCACATAGC -3'

Posted On

2022-11-14