Mutagenetix > Incidental Mutation

Incidental Mutation 'R7497:Olfr727'

581160

Institutional Source

Beutler Lab

Gene Symbol

Olfr727

Ensembl Gene

ENSMUSG00000059488

Gene Name

olfactory receptor 727

Synonyms

GA_x6K02T2PMLR-5817082-5818056, MOR246-2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R7497 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50123186-50128746 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50127495 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 306 (L306Q)

Ref Sequence

ENSEMBL: ENSMUSP00000149886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079142] [ENSMUST00000215317]

AlphaFold

A2RTN7

Predicted Effect

probably benign
Transcript: ENSMUST00000079142
AA Change: L306Q

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000078145
Gene: ENSMUSG00000059488
AA Change: L306Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	8.5e-49	PFAM
Pfam:7TM_GPCR_Srsx	36	290	1.5e-7	PFAM
Pfam:7tm_1	41	287	1.1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215317
AA Change: L306Q

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.2180

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (70/70)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	A	15: 91,191,176	I145F	probably benign	Het
Acvr2b	T	A	9: 119,433,286	V455E	probably benign	Het
Adgrv1	A	T	13: 81,440,225	V4414E	possibly damaging	Het
Agap2	T	C	10: 127,090,965	V977A	probably damaging	Het
Als2cr12	T	A	1: 58,678,308	D148V	probably damaging	Het
Aph1b	A	C	9: 66,794,119	S79A	probably damaging	Het
Atm	G	A	9: 53,511,891	S645L	probably benign	Het
Ccdc173	A	C	2: 69,758,448	N439K	probably benign	Het
Cdh11	T	C	8: 102,673,824	R171G	probably benign	Het
Ces2f	T	A	8: 104,954,698	D556E	probably benign	Het
Cyp26b1	C	A	6: 84,576,982	V218L	possibly damaging	Het
D11Wsu47e	T	A	11: 113,692,397	W517R	probably damaging	Het
Diaph1	T	C	18: 37,895,300		probably null	Het
Dock1	A	G	7: 134,765,274	I482V	probably benign	Het
Dok4	A	T	8: 94,867,425	D47E	possibly damaging	Het
Dqx1	T	A	6: 83,059,047	L120Q	probably damaging	Het
Duxf3	A	T	10: 58,230,736	V157E	probably damaging	Het
Eif2a	C	A	3: 58,548,681	P367Q	probably damaging	Het
Elp2	C	T	18: 24,611,928	R102C	probably damaging	Het
Erich2	T	C	2: 70,534,322	S347P	probably damaging	Het
Fgfr3	GGACCTCTCCGTG	GG	5: 33,735,422		probably null	Het
Gadl1	A	T	9: 116,074,087	I495L	probably benign	Het
Gcnt4	A	G	13: 96,946,960	T255A	possibly damaging	Het
Gm10972	A	G	3: 94,643,580	K21E	unknown	Het
Gm11639	T	C	11: 104,762,690		probably null	Het
Gm7361	C	A	5: 26,261,190	H183Q	probably benign	Het
Gp2	C	T	7: 119,454,606	C44Y	probably damaging	Het
Hcar2	C	T	5: 123,865,186	V85I	probably benign	Het
Hira	T	C	16: 18,952,079	V822A	probably damaging	Het
Ighv1-5	T	A	12: 114,513,536	T49S	probably damaging	Het
Ints1	C	T	5: 139,768,976	V603M	probably damaging	Het
Kdm2a	A	C	19: 4,324,376	L909R	probably damaging	Het
Klkb1	T	A	8: 45,294,790		probably benign	Het
Krit1	A	G	5: 3,812,349	H168R	possibly damaging	Het
Map3k21	A	T	8: 125,927,601	E386D	probably damaging	Het
Muc16	C	T	9: 18,645,089	E3303K	unknown	Het
Muc5b	T	G	7: 141,861,513	V2732G	possibly damaging	Het
Myo5a	T	C	9: 75,197,701	L189P		Het
Nlrc5	T	C	8: 94,521,970	L1740S	probably damaging	Het
Nolc1	A	G	19: 46,082,818	K402R	probably benign	Het
Olfr1272	T	A	2: 90,281,754	T274S	possibly damaging	Het
Olfr52	T	C	2: 86,182,073	I13V	probably benign	Het
Olfr601	T	C	7: 103,359,012	M61V	probably damaging	Het
Pnmal2	A	G	7: 16,944,949		probably benign	Het
Pnpt1	A	T	11: 29,130,860	M35L	probably benign	Het
Postn	A	G	3: 54,362,670	K57E	probably damaging	Het
Ppp1r9a	A	C	6: 4,905,775	D110A	probably damaging	Het
Pptc7	G	A	5: 122,284,879	V71M	possibly damaging	Het
Prdm11	T	A	2: 93,012,707	I136F	possibly damaging	Het
Rfc1	A	G	5: 65,279,498	L613P	probably damaging	Het
Ryr3	T	C	2: 112,730,473	D2981G	probably benign	Het
Sbf2	C	A	7: 110,614,716	E16*	probably null	Het
Scara3	T	C	14: 65,931,202	E322G	probably damaging	Het
Sema5b	T	A	16: 35,661,330	C893S	probably damaging	Het
Setdb1	T	C	3: 95,341,828	D323G	probably damaging	Het
Slc19a3	T	C	1: 83,013,928	Y453C	probably damaging	Het
Snx5	T	C	2: 144,257,974	K137E	probably damaging	Het
Taar8c	G	A	10: 24,101,218	T232I	probably benign	Het
Taok2	G	A	7: 126,874,878	T352I	probably damaging	Het
Ttc3	C	A	16: 94,418,682	R489S	possibly damaging	Het
Usp12	A	T	5: 146,752,454		probably null	Het
Usp16	T	A	16: 87,466,286	C125*	probably null	Het
Vmn2r106	C	T	17: 20,267,939	E733K	probably damaging	Het
Vps13b	T	A	15: 35,876,697	I2832K	probably benign	Het
Vps13c	A	G	9: 67,840,479	Y18C	probably damaging	Het
Zfp160	T	A	17: 21,026,193	I335K	probably benign	Het
Zfp788	A	T	7: 41,648,851	I304F	possibly damaging	Het

Other mutations in Olfr727

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Olfr727	APN	14	50126757	missense	probably damaging	1.00
IGL01306:Olfr727	APN	14	50126582	missense	probably benign	0.00
ANU23:Olfr727	UTSW	14	50126582	missense	probably benign	0.00
R0498:Olfr727	UTSW	14	50127293	missense	probably damaging	1.00
R0574:Olfr727	UTSW	14	50126682	missense	probably damaging	1.00
R1201:Olfr727	UTSW	14	50127356	missense	probably damaging	1.00
R2112:Olfr727	UTSW	14	50126623	missense	probably damaging	1.00
R2435:Olfr727	UTSW	14	50126754	missense	probably damaging	1.00
R4238:Olfr727	UTSW	14	50127432	missense	probably benign
R4611:Olfr727	UTSW	14	50127073	missense	probably benign	0.12
R4663:Olfr727	UTSW	14	50127482	missense	probably benign	0.00
R4672:Olfr727	UTSW	14	50127257	missense	probably benign	0.02
R5022:Olfr727	UTSW	14	50127012	missense	possibly damaging	0.78
R5062:Olfr727	UTSW	14	50127437	missense	probably damaging	1.00
R5924:Olfr727	UTSW	14	50126682	missense	probably damaging	1.00
R6702:Olfr727	UTSW	14	50127231	missense	probably damaging	1.00
R6703:Olfr727	UTSW	14	50127231	missense	probably damaging	1.00
R7615:Olfr727	UTSW	14	50126989	missense	probably benign	0.07
R7798:Olfr727	UTSW	14	50127438	missense	probably damaging	1.00
R8413:Olfr727	UTSW	14	50127370	missense	probably benign	0.19
R8439:Olfr727	UTSW	14	50127147	missense	probably benign
R8841:Olfr727	UTSW	14	50127209	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGTTCCTCTGCTAGCATGG -3'
(R):5'- GTAGTAAGCCTTTAAACAGCCCCAC -3'

Sequencing Primer
(F):5'- TCTGCTAGCATGGCCAAG -3'
(R):5'- ACAGCCCCACATATTAAATAACTAAC -3'

Posted On

2019-10-17