Mutagenetix > Incidental Mutation

Incidental Mutation 'R6702:Olfr727'

528832

Institutional Source

Beutler Lab

Gene Symbol

Olfr727

Ensembl Gene

ENSMUSG00000059488

Gene Name

olfactory receptor 727

Synonyms

GA_x6K02T2PMLR-5817082-5818056, MOR246-2

MMRRC Submission

044820-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R6702 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50123186-50128746 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50127231 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 218 (Y218C)

Ref Sequence

ENSEMBL: ENSMUSP00000149886 (fasta)

Gene Model

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

AlphaFold

A2RTN7

Predicted Effect

probably damaging
Transcript: ENSMUST00000079142
AA Change: Y218C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078145
Gene: ENSMUSG00000059488
AA Change: Y218C

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 damaging
Transcript: ENSMUST00000215317
AA Change: Y218C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.2655

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

97% (59/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	A	10: 21,621,659 (GRCm38)	Y66*	probably null	Het
2810474O19Rik	T	A	6: 149,327,878 (GRCm38)	N807K	probably damaging	Het
Ak3	A	G	19: 29,026,227 (GRCm38)	V183A	probably damaging	Het
Ano10	G	T	9: 122,259,564 (GRCm38)	Q397K	possibly damaging	Het
Atg7	C	A	6: 114,671,097 (GRCm38)		probably null	Het
Brpf3	A	C	17: 28,810,659 (GRCm38)	N531T	probably benign	Het
Casp2	T	C	6: 42,268,051 (GRCm38)	V128A	probably benign	Het
Cdcp2	T	C	4: 107,107,086 (GRCm38)	C378R	probably benign	Het
Cfap54	T	A	10: 92,868,734 (GRCm38)	D2828V	unknown	Het
Col6a3	T	C	1: 90,779,439 (GRCm38)	D1984G	unknown	Het
Csnk2a1	A	G	2: 152,258,688 (GRCm38)	T93A	probably benign	Het
Ddx54	T	A	5: 120,626,503 (GRCm38)	D758E	possibly damaging	Het
Dlx2	A	G	2: 71,546,227 (GRCm38)	S56P	probably damaging	Het
Dna2	T	A	10: 62,973,294 (GRCm38)	I1055N	possibly damaging	Het
Dnah10	A	G	5: 124,805,805 (GRCm38)	Y2909C	probably damaging	Het
Dnm3	A	G	1: 162,318,687 (GRCm38)	F296L	probably benign	Het
Fat1	A	G	8: 44,953,046 (GRCm38)	T945A	probably benign	Het
Herpud1	T	C	8: 94,392,526 (GRCm38)		probably null	Het
Iqub	T	A	6: 24,449,745 (GRCm38)	N707I	probably damaging	Het
Kif26b	C	G	1: 178,917,287 (GRCm38)	S1649R	possibly damaging	Het
Lamp5	C	G	2: 136,059,563 (GRCm38)	N102K	possibly damaging	Het
Ltbr	A	G	6: 125,308,068 (GRCm38)	S290P	probably benign	Het
Map4k1	T	G	7: 29,002,396 (GRCm38)	S803A	possibly damaging	Het
Mef2c	T	A	13: 83,625,406 (GRCm38)	C134S	possibly damaging	Het
Myo15	A	G	11: 60,492,992 (GRCm38)	I1622V	probably benign	Het
Nbea	A	G	3: 56,005,502 (GRCm38)	Y955H	probably benign	Het
Ndor1	A	G	2: 25,249,890 (GRCm38)	F142S	possibly damaging	Het
Nynrin	A	G	14: 55,864,478 (GRCm38)	T535A	possibly damaging	Het
Olfr1176	G	A	2: 88,340,242 (GRCm38)	V226I	probably benign	Het
Olfr1290	T	A	2: 111,490,109 (GRCm38)		probably null	Het
Olfr205	C	T	16: 59,328,598 (GRCm38)	V304I	probably benign	Het
Olfr916	A	T	9: 38,657,777 (GRCm38)	I205N	possibly damaging	Het
Pcdhb13	T	G	18: 37,444,775 (GRCm38)	H735Q	probably benign	Het
Pcdhb7	A	T	18: 37,341,906 (GRCm38)	M32L	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm38)		probably benign	Het
Per2	C	T	1: 91,427,949 (GRCm38)	E696K	probably damaging	Het
Pld4	T	C	12: 112,765,051 (GRCm38)	S213P	probably damaging	Het
Prkg1	T	A	19: 30,993,084 (GRCm38)	H209L	probably benign	Het
Psg16	T	C	7: 17,090,396 (GRCm38)	L35P	probably damaging	Het
Pxn	C	T	5: 115,551,896 (GRCm38)	L160F	probably benign	Het
Rab3a	A	G	8: 70,756,448 (GRCm38)	D77G	probably damaging	Het
Rgma	A	T	7: 73,417,320 (GRCm38)	T108S	probably damaging	Het
Rxrg	A	G	1: 167,613,805 (GRCm38)	S51G	probably benign	Het
S1pr3	A	T	13: 51,419,439 (GRCm38)	I219F	probably damaging	Het
Sec23b	A	T	2: 144,559,189 (GRCm38)		probably null	Het
Sfrp5	G	T	19: 42,201,827 (GRCm38)	T62K	probably benign	Het
Slco1a6	T	A	6: 142,103,100 (GRCm38)	Y318F	probably damaging	Het
Slit1	A	C	19: 41,614,870 (GRCm38)	S931A	possibly damaging	Het
Sorl1	A	T	9: 42,071,201 (GRCm38)	V361E	probably damaging	Het
St6galnac2	A	G	11: 116,684,387 (GRCm38)	S209P	probably benign	Het
Supt6	C	A	11: 78,231,800 (GRCm38)	R199L	possibly damaging	Het
Tas2r107	A	C	6: 131,659,384 (GRCm38)	M234R	probably benign	Het
Tmem72	C	G	6: 116,698,349 (GRCm38)	V61L	probably benign	Het
Trpm5	C	A	7: 143,069,318 (GRCm38)		probably benign	Het
Ttn	T	G	2: 76,720,112 (GRCm38)	T23282P	probably damaging	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210 (GRCm38)		probably benign	Het
Ubr3	A	T	2: 69,956,049 (GRCm38)	R836W	probably benign	Het
Umodl1	A	G	17: 30,986,299 (GRCm38)		probably null	Het
Ythdf1	A	G	2: 180,919,133 (GRCm38)		probably null	Het
Zfp780b	T	C	7: 27,971,641 (GRCm38)	T81A	possibly damaging	Het
Zfp811	T	C	17: 32,797,842 (GRCm38)	E407G	probably damaging	Het

Other mutations in Olfr727

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Olfr727	APN	14	50,126,757 (GRCm38)	missense	probably damaging	1.00
IGL01306:Olfr727	APN	14	50,126,582 (GRCm38)	missense	probably benign	0.00
ANU23:Olfr727	UTSW	14	50,126,582 (GRCm38)	missense	probably benign	0.00
R0498:Olfr727	UTSW	14	50,127,293 (GRCm38)	missense	probably damaging	1.00
R0574:Olfr727	UTSW	14	50,126,682 (GRCm38)	missense	probably damaging	1.00
R1201:Olfr727	UTSW	14	50,127,356 (GRCm38)	missense	probably damaging	1.00
R2112:Olfr727	UTSW	14	50,126,623 (GRCm38)	missense	probably damaging	1.00
R2435:Olfr727	UTSW	14	50,126,754 (GRCm38)	missense	probably damaging	1.00
R4238:Olfr727	UTSW	14	50,127,432 (GRCm38)	missense	probably benign
R4611:Olfr727	UTSW	14	50,127,073 (GRCm38)	missense	probably benign	0.12
R4663:Olfr727	UTSW	14	50,127,482 (GRCm38)	missense	probably benign	0.00
R4672:Olfr727	UTSW	14	50,127,257 (GRCm38)	missense	probably benign	0.02
R5022:Olfr727	UTSW	14	50,127,012 (GRCm38)	missense	possibly damaging	0.78
R5062:Olfr727	UTSW	14	50,127,437 (GRCm38)	missense	probably damaging	1.00
R5924:Olfr727	UTSW	14	50,126,682 (GRCm38)	missense	probably damaging	1.00
R6703:Olfr727	UTSW	14	50,127,231 (GRCm38)	missense	probably damaging	1.00
R7497:Olfr727	UTSW	14	50,127,495 (GRCm38)	missense	probably benign	0.20
R7615:Olfr727	UTSW	14	50,126,989 (GRCm38)	missense	probably benign	0.07
R7798:Olfr727	UTSW	14	50,127,438 (GRCm38)	missense	probably damaging	1.00
R8413:Olfr727	UTSW	14	50,127,370 (GRCm38)	missense	probably benign	0.19
R8439:Olfr727	UTSW	14	50,127,147 (GRCm38)	missense	probably benign
R8841:Olfr727	UTSW	14	50,127,209 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCGCCGTGTATGTATCATTC -3'
(R):5'- AGAACACAGCAAGGACTTTGTC -3'

Sequencing Primer
(F):5'- ACTAGTCAGTTGGCATTCACTG -3'
(R):5'- CAGCAAGGACTTTGTCAACTG -3'

Posted On

2018-07-24