Mutagenetix > Incidental Mutations

Incidental Mutation 'R5521:Olfr71'

431535

Institutional Source

Beutler Lab

Gene Symbol

Olfr71

Ensembl Gene

ENSMUSG00000046450

Gene Name

olfactory receptor 71

Synonyms

GA_x6K02T2N78B-16230286-16231224, mOR17, MOR262-4

MMRRC Submission

043080-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R5521 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43704562-43710255 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43705788 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 260 (M260K)

Ref Sequence

ENSEMBL: ENSMUSP00000149725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055401] [ENSMUST00000055545] [ENSMUST00000107862] [ENSMUST00000217544]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055401
AA Change: M260K

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000060230
Gene: ENSMUSG00000046450
AA Change: M260K

Domain	Start	End	E-Value	Type
Pfam:7tm_1	41	290	2.4e-34	PFAM
Pfam:7tm_4	139	283	4.5e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000055545

SMART Domains

Protein: ENSMUSP00000060748
Gene: ENSMUSG00000050215

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	306	9.6e-51	PFAM
Pfam:7tm_1	41	289	3.4e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107862
AA Change: M260K

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103494
Gene: ENSMUSG00000046450
AA Change: M260K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	2.2e-52	PFAM
Pfam:7tm_1	41	290	7.5e-25	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217544
AA Change: M260K

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 97.5%
10x: 94.4%
20x: 87.5%

Validation Efficiency

94% (72/77)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	G	9: 44,279,683		probably benign	Het
Abhd14a	G	T	9: 106,443,834	D107E	probably damaging	Het
Acat1	T	A	9: 53,583,507	K362*	probably null	Het
Adad2	T	A	8: 119,612,789	S3R	probably benign	Het
Adcy8	C	A	15: 64,815,350	R435M	probably damaging	Het
Adgrv1	A	T	13: 81,419,389	S5222T	probably benign	Het
Ankk1	A	T	9: 49,420,448	M182K	probably benign	Het
Apba1	C	T	19: 23,893,593	P263L	probably damaging	Het
Arhgap39	G	A	15: 76,765,494	S26L	possibly damaging	Het
Ccng1	G	A	11: 40,752,266	T118I	possibly damaging	Het
Cenpe	T	C	3: 135,269,065	S2329P	probably damaging	Het
Chil4	A	G	3: 106,203,697	Y294H	possibly damaging	Het
Chst8	A	C	7: 34,675,245	S390A	probably benign	Het
Dars	T	C	1: 128,373,973	D308G	probably benign	Het
Dlec1	A	C	9: 119,143,401	Q1458P	possibly damaging	Het
Dvl2	G	A	11: 70,006,407	E312K	probably damaging	Het
Fchsd1	T	C	18: 37,966,484	H219R	probably damaging	Het
Foxd4	A	C	19: 24,899,643	C398G	probably damaging	Het
Gm10719	T	A	9: 3,018,970	F72I	probably damaging	Het
Gm5414	T	C	15: 101,627,987	I68V	probably benign	Het
Gmip	C	T	8: 69,817,399	T684I	probably damaging	Het
Gpr137c	T	C	14: 45,278,694	I295T	possibly damaging	Het
Hivep1	T	A	13: 42,158,328	M1348K	probably damaging	Het
Igkv6-23	T	C	6: 70,260,613	D48G	probably benign	Het
Il3	G	A	11: 54,267,132	T40M	possibly damaging	Het
Ing2	T	C	8: 47,669,213	E100G	probably damaging	Het
Itpr3	C	A	17: 27,107,334	H1359Q	probably benign	Het
Lama1	T	A	17: 67,780,894	Y1502*	probably null	Het
Mamdc2	C	A	19: 23,310,938	G579W	probably damaging	Het
Mapk6	G	A	9: 75,393,316		probably benign	Het
Mapk8ip2	C	T	15: 89,458,804	R616W	probably damaging	Het
Mc5r	T	A	18: 68,339,677	L369H	possibly damaging	Het
Meis1	T	C	11: 18,988,260		probably benign	Het
Mmp8	A	G	9: 7,560,643	K107R	probably benign	Het
Mn1	C	T	5: 111,421,769	H1202Y	possibly damaging	Het
Naip2	A	G	13: 100,154,914	L1172P	probably damaging	Het
Nek9	C	T	12: 85,327,445	D273N	probably benign	Het
Nlrp4e	A	T	7: 23,321,765	D559V	probably benign	Het
Nlrp4g	T	C	9: 124,350,020		noncoding transcript	Het
Oit3	G	T	10: 59,435,914	A207E	probably benign	Het
Olfr1140	A	G	2: 87,747,062	I289V	probably benign	Het
Olfr298	A	T	7: 86,488,631	C307S	probably benign	Het
Olfr462	A	T	11: 87,889,719	M59K	probably damaging	Het
Pde4c	T	C	8: 70,747,382		probably null	Het
Ppp1r26	A	G	2: 28,451,426	E356G	probably benign	Het
Pramef12	A	G	4: 144,395,971	M1T	probably null	Het
Ptges3-ps	T	A	6: 85,844,321		noncoding transcript	Het
Ptpn13	T	G	5: 103,501,428	F232L	probably benign	Het
Reps1	T	C	10: 18,104,234	S114P	probably damaging	Het
Scarf2	T	A	16: 17,803,602		probably null	Het
Sdha	A	T	13: 74,350,099		probably benign	Het
Secisbp2l	A	T	2: 125,752,977	V146D	possibly damaging	Het
Slc26a8	T	A	17: 28,654,859	T385S	probably benign	Het
Slc4a1	G	A	11: 102,353,266	T679M	probably benign	Het
Tbc1d14	T	A	5: 36,520,552	E353V	probably damaging	Het
Thap2	T	A	10: 115,372,760	K152*	probably null	Het
Thbd	A	T	2: 148,407,735	I71N	probably damaging	Het
V1ra8	T	A	6: 90,203,054	W80R	probably damaging	Het
Vmn1r218	A	G	13: 23,136,573	Y30C	probably benign	Het
Vmn2r60	C	A	7: 42,195,625	T804K	probably damaging	Het
Vmn2r68	A	T	7: 85,233,718	D275E	probably benign	Het
Vps13c	A	G	9: 67,951,439	I2724V	probably benign	Het
Xrcc5	C	A	1: 72,346,271	P507Q	probably damaging	Het
Zfp120	A	T	2: 150,117,579	Y274*	probably null	Het
Zfp780b	C	A	7: 27,974,748		probably null	Het

Other mutations in Olfr71

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02317:Olfr71	APN	4	43706172	missense	probably damaging	1.00
PIT4453001:Olfr71	UTSW	4	43706464	missense	probably damaging	1.00
R0597:Olfr71	UTSW	4	43706592	unclassified	probably null
R0610:Olfr71	UTSW	4	43706400	missense	possibly damaging	0.69
R1588:Olfr71	UTSW	4	43705923	missense	probably damaging	0.98
R1619:Olfr71	UTSW	4	43706292	missense	probably damaging	1.00
R1779:Olfr71	UTSW	4	43706041	missense	probably damaging	1.00
R2871:Olfr71	UTSW	4	43706458	missense	probably benign	0.30
R2871:Olfr71	UTSW	4	43706458	missense	probably benign	0.30
R4723:Olfr71	UTSW	4	43705785	missense	probably damaging	1.00
R4891:Olfr71	UTSW	4	43706194	missense	probably damaging	0.99
R5049:Olfr71	UTSW	4	43706259	missense	probably damaging	1.00
R5151:Olfr71	UTSW	4	43706518	missense	probably damaging	0.99
R5491:Olfr71	UTSW	4	43705990	missense	probably damaging	1.00
R6225:Olfr71	UTSW	4	43705698	missense	probably damaging	1.00
R6518:Olfr71	UTSW	4	43706334	missense	probably benign	0.05
R6883:Olfr71	UTSW	4	43705723	missense	possibly damaging	0.93
R7185:Olfr71	UTSW	4	43706082	missense	possibly damaging	0.82
R7339:Olfr71	UTSW	4	43706080	missense	probably benign	0.05
R7502:Olfr71	UTSW	4	43706316	missense	probably damaging	0.97
R8052:Olfr71	UTSW	4	43705884	missense	probably damaging	0.97
X0017:Olfr71	UTSW	4	43705990	missense	probably damaging	1.00
X0021:Olfr71	UTSW	4	43706326	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGCTGATCCACATAACAAGGG -3'
(R):5'- TGACACCTCAGTCAGCGATG -3'

Sequencing Primer
(F):5'- TACCCATGCAGAGCCCTG -3'
(R):5'- AGTCAGCGATGCCTTCCTG -3'

Posted On

2016-10-05