Mutagenetix > Incidental Mutation

Incidental Mutation 'R8052:Olfr71'

619096

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R8052 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43704562-43710255 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43705884 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 228 (V228E)

Ref Sequence

ENSEMBL: ENSMUSP00000103494 (fasta)

Gene Model

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

AlphaFold

Q9QZ18

Predicted Effect

probably damaging
Transcript: ENSMUST00000055401
AA Change: V228E

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000060230
Gene: ENSMUSG00000046450
AA Change: V228E

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 damaging
Transcript: ENSMUST00000107862
AA Change: V228E

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103494
Gene: ENSMUSG00000046450
AA Change: V228E

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

probably damaging
Transcript: ENSMUST00000217544
AA Change: V228E

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	TCC	TCCGCC	6: 96,165,097		probably benign	Het
1700123L14Rik	TCC	TCCCCC	6: 96,165,103		probably benign	Het
2010111I01Rik	G	A	13: 63,068,251	V446I	probably damaging	Het
Abi1	T	C	2: 22,953,543	T297A	probably benign	Het
Acadl	G	T	1: 66,853,178	T162K	probably benign	Het
Aldoart2	A	T	12: 55,565,751	I154F	probably damaging	Het
Alkbh8	G	A	9: 3,385,478	R625H	probably damaging	Het
Ankrd31	T	A	13: 96,832,528	V891E	probably benign	Het
Atp8b5	C	T	4: 43,356,982	R577*	probably null	Het
Capn3	G	T	2: 120,486,386	E285D	probably benign	Het
Cd79b	G	T	11: 106,313,700	P87T	probably damaging	Het
Celsr2	T	G	3: 108,412,655	D947A	probably damaging	Het
Csmd3	A	C	15: 47,706,387	S1213R		Het
Cyp2j5	T	C	4: 96,664,004	M3V	probably benign	Het
Ddi1	C	T	9: 6,265,787	R194K	probably benign	Het
Decr1	T	C	4: 15,933,019	K49R	probably benign	Het
Dnah10	A	C	5: 124,828,511	E4130A	probably benign	Het
Dst	A	G	1: 34,284,363	D4648G	probably damaging	Het
Ecd	A	G	14: 20,329,952		probably null	Het
Erbin	A	T	13: 103,834,356	Y917*	probably null	Het
Evpl	T	C	11: 116,223,163	K1234E	probably benign	Het
F11r	T	A	1: 171,461,623	Y218N	possibly damaging	Het
Fam43a	C	G	16: 30,601,804	T402S	probably benign	Het
Frem2	T	C	3: 53,549,643	N2096S	probably benign	Het
Gm7697	A	T	8: 69,522,752	Y21N	possibly damaging	Het
Gpd2	T	A	2: 57,306,950	Y172*	probably null	Het
Hscb	A	G	5: 110,835,978	V90A	probably benign	Het
Iqgap2	T	C	13: 95,657,879	D1195G	probably damaging	Het
Map2k2	T	C	10: 81,115,066	I115T	probably damaging	Het
Mast2	C	T	4: 116,312,975	R707H	probably damaging	Het
Mindy4	A	G	6: 55,300,992	N607S	probably damaging	Het
Mrpl9	T	A	3: 94,443,743	Y77N	probably damaging	Het
Muc16	G	A	9: 18,659,051	T724I	unknown	Het
Nat3	A	T	8: 67,547,826	Y119F	possibly damaging	Het
Nol7	T	C	13: 43,401,514	S208P	probably damaging	Het
Notch3	A	T	17: 32,146,571	C1056S	probably damaging	Het
Olfr1039	A	T	2: 86,131,377	Y95*	probably null	Het
Olfr146	G	T	9: 39,019,487	T18K	probably damaging	Het
Olfr399	T	A	11: 74,054,475	I95F	probably benign	Het
Osbpl3	A	C	6: 50,346,015	L288R	probably damaging	Het
Oscp1	A	C	4: 126,088,323	D352A	possibly damaging	Het
Pcdh9	G	A	14: 93,885,786	R983C	probably benign	Het
Pcdhgb8	T	C	18: 37,763,502	S542P	probably benign	Het
Pi4ka	T	C	16: 17,356,166	T490A		Het
Pkd1l1	A	T	11: 8,947,315	D531E		Het
Prr3	G	T	17: 35,979,161	D26E	possibly damaging	Het
Psmd8	T	C	7: 29,180,576	K24E	probably benign	Het
Rasgrp4	G	A	7: 29,149,937	C583Y	probably damaging	Het
Rest	A	G	5: 77,268,324	I128M	probably benign	Het
Rftn1	A	T	17: 50,086,579	F144I	probably damaging	Het
Rusc2	T	C	4: 43,421,851	F757S	probably benign	Het
Ryr1	A	G	7: 29,083,385	S1942P	probably benign	Het
Sdk2	C	T	11: 113,854,351	R706Q	probably damaging	Het
Sergef	G	T	7: 46,614,638	T275K	probably damaging	Het
Serpina10	T	C	12: 103,628,310	T217A	probably damaging	Het
Shd	G	C	17: 55,976,235	S288T	probably damaging	Het
Siglec15	C	A	18: 78,048,588	A133S	possibly damaging	Het
Stat4	C	T	1: 52,079,773	P325L	probably damaging	Het
Syt8	G	A	7: 142,440,144	G344D	probably damaging	Het
Tes	A	G	6: 17,097,292	E133G	probably benign	Het
Tmprss2	T	C	16: 97,568,416	Y386C	probably damaging	Het
Tnfrsf11b	A	T	15: 54,252,106	L365Q	probably damaging	Het
Tns1	T	A	1: 73,953,437	D67V	probably damaging	Het
Tns2	T	C	15: 102,112,845	S982P	probably damaging	Het
Tpcn2	A	T	7: 145,260,946	F473I	probably benign	Het
Tsg101	A	T	7: 46,892,509	I232N	probably damaging	Het
Ttc3	T	C	16: 94,467,989	S1977P	probably benign	Het
Ttll11	T	A	2: 35,979,515	E37V	unknown	Het
Ttn	A	T	2: 76,818,816	V12716E	possibly damaging	Het
Vmn2r70	A	C	7: 85,563,715	S495A	probably benign	Het
Zfp974	A	G	7: 27,911,272	C343R	probably damaging	Het
Zfy1	A	T	Y: 726,004	I587N	possibly damaging	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	splice site	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
R5521:Olfr71	UTSW	4	43705788	missense	possibly damaging	0.88
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
R8797:Olfr71	UTSW	4	43706455	missense	probably damaging	1.00
R9701:Olfr71	UTSW	4	43705793	missense	probably benign	0.00
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'- TAGATAATGGGGTTCAGCATGG -3'
(R):5'- TCAAGTCAGTGGCAGAGACG -3'

Sequencing Primer
(F):5'- TTCAGCATGGGGGTCACCAC -3'
(R):5'- TCAGTGGCAGAGACGGTCATC -3'

Posted On

2020-01-23