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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.108) 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	Y66*	probably null	Het
2810474O19Rik	T	A	6: 149,327,878	N807K	probably damaging	Het
Ak3	A	G	19: 29,026,227	V183A	probably damaging	Het
Ano10	G	T	9: 122,259,564	Q397K	possibly damaging	Het
Atg7	C	A	6: 114,671,097		probably null	Het
Brpf3	A	C	17: 28,810,659	N531T	probably benign	Het
Casp2	T	C	6: 42,268,051	V128A	probably benign	Het
Cdcp2	T	C	4: 107,107,086	C378R	probably benign	Het
Cfap54	T	A	10: 92,868,734	D2828V	unknown	Het
Col6a3	T	C	1: 90,779,439	D1984G	unknown	Het
Csnk2a1	A	G	2: 152,258,688	T93A	probably benign	Het
Ddx54	T	A	5: 120,626,503	D758E	possibly damaging	Het
Dlx2	A	G	2: 71,546,227	S56P	probably damaging	Het
Dna2	T	A	10: 62,973,294	I1055N	possibly damaging	Het
Dnah10	A	G	5: 124,805,805	Y2909C	probably damaging	Het
Dnm3	A	G	1: 162,318,687	F296L	probably benign	Het
Fat1	A	G	8: 44,953,046	T945A	probably benign	Het
Herpud1	T	C	8: 94,392,526		probably null	Het
Iqub	T	A	6: 24,449,745	N707I	probably damaging	Het
Kif26b	C	G	1: 178,917,287	S1649R	possibly damaging	Het
Lamp5	C	G	2: 136,059,563	N102K	possibly damaging	Het
Ltbr	A	G	6: 125,308,068	S290P	probably benign	Het
Map4k1	T	G	7: 29,002,396	S803A	possibly damaging	Het
Mef2c	T	A	13: 83,625,406	C134S	possibly damaging	Het
Myo15	A	G	11: 60,492,992	I1622V	probably benign	Het
Nbea	A	G	3: 56,005,502	Y955H	probably benign	Het
Ndor1	A	G	2: 25,249,890	F142S	possibly damaging	Het
Nynrin	A	G	14: 55,864,478	T535A	possibly damaging	Het
Olfr1176	G	A	2: 88,340,242	V226I	probably benign	Het
Olfr1290	T	A	2: 111,490,109		probably null	Het
Olfr205	C	T	16: 59,328,598	V304I	probably benign	Het
Olfr916	A	T	9: 38,657,777	I205N	possibly damaging	Het
Pcdhb13	T	G	18: 37,444,775	H735Q	probably benign	Het
Pcdhb7	A	T	18: 37,341,906	M32L	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Per2	C	T	1: 91,427,949	E696K	probably damaging	Het
Pld4	T	C	12: 112,765,051	S213P	probably damaging	Het
Prkg1	T	A	19: 30,993,084	H209L	probably benign	Het
Psg16	T	C	7: 17,090,396	L35P	probably damaging	Het
Pxn	C	T	5: 115,551,896	L160F	probably benign	Het
Rab3a	A	G	8: 70,756,448	D77G	probably damaging	Het
Rgma	A	T	7: 73,417,320	T108S	probably damaging	Het
Rxrg	A	G	1: 167,613,805	S51G	probably benign	Het
S1pr3	A	T	13: 51,419,439	I219F	probably damaging	Het
Sec23b	A	T	2: 144,559,189		probably null	Het
Sfrp5	G	T	19: 42,201,827	T62K	probably benign	Het
Slco1a6	T	A	6: 142,103,100	Y318F	probably damaging	Het
Slit1	A	C	19: 41,614,870	S931A	possibly damaging	Het
Sorl1	A	T	9: 42,071,201	V361E	probably damaging	Het
St6galnac2	A	G	11: 116,684,387	S209P	probably benign	Het
Supt6	C	A	11: 78,231,800	R199L	possibly damaging	Het
Tas2r107	A	C	6: 131,659,384	M234R	probably benign	Het
Tmem72	C	G	6: 116,698,349	V61L	probably benign	Het
Trpm5	C	A	7: 143,069,318		probably benign	Het
Ttn	T	G	2: 76,720,112	T23282P	probably damaging	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210		probably benign	Het
Ubr3	A	T	2: 69,956,049	R836W	probably benign	Het
Umodl1	A	G	17: 30,986,299		probably null	Het
Ythdf1	A	G	2: 180,919,133		probably null	Het
Zfp780b	T	C	7: 27,971,641	T81A	possibly damaging	Het
Zfp811	T	C	17: 32,797,842	E407G	probably 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
R6703:Olfr727	UTSW	14	50127231	missense	probably damaging	1.00
R7497:Olfr727	UTSW	14	50127495	missense	probably benign	0.20
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'- AGTCGCCGTGTATGTATCATTC -3'
(R):5'- AGAACACAGCAAGGACTTTGTC -3'

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

Posted On

2018-07-24