Mutagenetix > Incidental Mutation

Incidental Mutation 'R8013:Or4a71'

616977

Institutional Source

Beutler Lab

Gene Symbol

Or4a71

Ensembl Gene

ENSMUSG00000075084

Gene Name

olfactory receptor family 4 subfamily A member 71

Synonyms

Olfr1243, MOR231-4, GA_x6K02T2Q125-50972538-50971621

MMRRC Submission

067453-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R8013 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89357835-89358752 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89358280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 158 (V158A)

Ref Sequence

ENSEMBL: ENSMUSP00000149464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099775] [ENSMUST00000144885]

AlphaFold

Q8VGM7

Predicted Effect

probably benign
Transcript: ENSMUST00000099775
AA Change: V158A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000097363
Gene: ENSMUSG00000075084
AA Change: V158A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	3.5e-45	PFAM
Pfam:7TM_GPCR_Srsx	33	300	1.2e-5	PFAM
Pfam:7tm_1	39	285	2.1e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144885
AA Change: V158A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	C	A	15: 12,824,615 (GRCm39)	D7Y	probably benign	Het
Ahnak	A	G	19: 8,986,699 (GRCm39)	D2661G	unknown	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Apob	T	A	12: 8,060,798 (GRCm39)	N3093K	possibly damaging	Het
Baz2a	C	T	10: 127,961,157 (GRCm39)	R1627C	probably benign	Het
Baz2a	T	G	10: 127,961,161 (GRCm39)	V1628G	possibly damaging	Het
Bbs7	A	T	3: 36,648,536 (GRCm39)	I404K	probably damaging	Het
Cacna1g	T	C	11: 94,347,796 (GRCm39)	Y764C	probably damaging	Het
Casr	G	A	16: 36,330,006 (GRCm39)	L443F	probably benign	Het
Cfap43	T	A	19: 47,761,548 (GRCm39)	I849F	probably damaging	Het
Cntn3	A	T	6: 102,176,278 (GRCm39)	H812Q	probably benign	Het
Cog1	A	G	11: 113,546,990 (GRCm39)	D528G	probably damaging	Het
Depdc5	C	T	5: 33,131,186 (GRCm39)	T1229M	probably benign	Het
Dis3	T	A	14: 99,314,835 (GRCm39)	R954W	possibly damaging	Het
Disp2	T	A	2: 118,620,163 (GRCm39)	Y298*	probably null	Het
Dnai3	T	C	3: 145,787,040 (GRCm39)	T332A	probably damaging	Het
Dock2	A	C	11: 34,596,677 (GRCm39)	I393S	probably damaging	Het
Dtd1	A	G	2: 144,459,252 (GRCm39)	D92G	probably damaging	Het
Eef2	T	A	10: 81,014,030 (GRCm39)	V121D	probably damaging	Het
Eml1	T	A	12: 108,487,938 (GRCm39)	I550N	probably benign	Het
Entpd7	A	G	19: 43,716,494 (GRCm39)	D496G	probably benign	Het
Ets2	T	A	16: 95,517,144 (GRCm39)	L292Q	probably damaging	Het
Ext1	T	C	15: 52,939,283 (GRCm39)	I589V	possibly damaging	Het
Fam20a	T	A	11: 109,576,332 (GRCm39)	E142D	possibly damaging	Het
Farp1	T	A	14: 121,479,813 (GRCm39)	I368N	probably damaging	Het
Fars2	C	T	13: 36,389,068 (GRCm39)	Q186*	probably null	Het
Fbn2	T	C	18: 58,237,153 (GRCm39)	T617A	possibly damaging	Het
Fbxo38	T	C	18: 62,663,882 (GRCm39)	E203G	possibly damaging	Het
Fcgbpl1	G	A	7: 27,836,966 (GRCm39)	R295H	probably benign	Het
Fhdc1	A	T	3: 84,381,946 (GRCm39)	M1K	probably null	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gm28363	A	G	1: 117,654,534 (GRCm39)	R58G	probably benign	Het
Gm8356	A	T	14: 17,692,450 (GRCm39)	N58K	probably damaging	Het
Grsf1	A	G	5: 88,823,615 (GRCm39)		probably null	Het
Hephl1	T	A	9: 14,965,905 (GRCm39)	D1016V	possibly damaging	Het
Hrob	A	G	11: 102,148,725 (GRCm39)	N379D	probably benign	Het
Kcnma1	T	A	14: 23,423,211 (GRCm39)	I831F	probably benign	Het
Krt78	T	C	15: 101,856,977 (GRCm39)	R377G	probably damaging	Het
Lama2	T	C	10: 27,220,494 (GRCm39)	H457R	probably benign	Het
Lmnb1	T	A	18: 56,841,431 (GRCm39)	Y83N	probably damaging	Het
Loxl4	A	G	19: 42,596,115 (GRCm39)	C113R	probably damaging	Het
Lrba	A	T	3: 86,325,278 (GRCm39)	D1912V	probably damaging	Het
Macf1	T	A	4: 123,420,619 (GRCm39)	T212S	probably benign	Het
Map3k4	A	T	17: 12,489,918 (GRCm39)	C504*	probably null	Het
Map4k4	T	C	1: 40,001,372 (GRCm39)	I53T	unknown	Het
Mtcl2	A	G	2: 156,872,706 (GRCm39)		probably null	Het
Myo5b	C	T	18: 74,893,970 (GRCm39)	Q1700*	probably null	Het
Npas2	T	C	1: 39,377,146 (GRCm39)	F503L	probably benign	Het
Nrg1	A	T	8: 32,439,951 (GRCm39)	S149T	probably benign	Het
Or13c7	T	A	4: 43,854,958 (GRCm39)	F216L	probably benign	Het
Or2ag15	C	T	7: 106,340,824 (GRCm39)	V106I	probably benign	Het
Or9r7	T	A	10: 129,962,647 (GRCm39)	K93M	probably damaging	Het
Pdia6	T	C	12: 17,323,966 (GRCm39)	L66S	probably damaging	Het
Prss35	T	C	9: 86,637,478 (GRCm39)	S83P	probably damaging	Het
Psme4	G	A	11: 30,754,320 (GRCm39)	M192I	probably benign	Het
Ptprs	A	C	17: 56,742,994 (GRCm39)	S383A	probably damaging	Het
Resf1	T	G	6: 149,230,368 (GRCm39)	V1138G	probably damaging	Het
Sar1b	C	T	11: 51,670,621 (GRCm39)	P55L	possibly damaging	Het
Sgsh	A	G	11: 119,243,521 (GRCm39)	V67A	probably damaging	Het
Slc16a4	A	G	3: 107,218,794 (GRCm39)	Y465C	probably damaging	Het
Stard9	T	C	2: 120,518,582 (GRCm39)	I502T	probably damaging	Het
Sugp2	T	A	8: 70,704,292 (GRCm39)	Y610N	probably damaging	Het
Tbc1d24	G	A	17: 24,401,795 (GRCm39)	P385S	possibly damaging	Het
Tm4sf1	T	C	3: 57,200,319 (GRCm39)	I99V	probably benign	Het
Tpr	G	T	1: 150,274,359 (GRCm39)	V163L	probably benign	Het
Usp31	T	C	7: 121,248,480 (GRCm39)	S988G	probably damaging	Het
Zbtb26	T	A	2: 37,327,013 (GRCm39)		probably null	Het
Zfp536	T	C	7: 37,269,035 (GRCm39)	N127S	probably damaging	Het
Zfp750	T	A	11: 121,403,843 (GRCm39)	D344V	possibly damaging	Het
Zmym5	T	A	14: 57,031,883 (GRCm39)	K408N	possibly damaging	Het

Other mutations in Or4a71

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Or4a71	APN	2	89,358,551 (GRCm39)	missense	probably damaging	1.00
IGL01940:Or4a71	APN	2	89,358,154 (GRCm39)	missense	probably damaging	0.99
IGL02553:Or4a71	APN	2	89,358,275 (GRCm39)	missense	probably benign
R0105:Or4a71	UTSW	2	89,358,707 (GRCm39)	missense	probably benign	0.00
R0105:Or4a71	UTSW	2	89,358,707 (GRCm39)	missense	probably benign	0.00
R0607:Or4a71	UTSW	2	89,358,451 (GRCm39)	missense	possibly damaging	0.88
R0764:Or4a71	UTSW	2	89,358,340 (GRCm39)	missense	probably benign	0.05
R1779:Or4a71	UTSW	2	89,357,989 (GRCm39)	missense	probably benign	0.15
R2221:Or4a71	UTSW	2	89,358,281 (GRCm39)	missense	probably benign	0.05
R3853:Or4a71	UTSW	2	89,357,917 (GRCm39)	missense	possibly damaging	0.94
R3886:Or4a71	UTSW	2	89,358,076 (GRCm39)	missense	possibly damaging	0.81
R3887:Or4a71	UTSW	2	89,358,076 (GRCm39)	missense	possibly damaging	0.81
R3888:Or4a71	UTSW	2	89,358,076 (GRCm39)	missense	possibly damaging	0.81
R4431:Or4a71	UTSW	2	89,357,987 (GRCm39)	missense	probably damaging	1.00
R4479:Or4a71	UTSW	2	89,358,514 (GRCm39)	missense	possibly damaging	0.89
R6807:Or4a71	UTSW	2	89,357,932 (GRCm39)	missense	probably damaging	1.00
R7025:Or4a71	UTSW	2	89,357,948 (GRCm39)	missense	probably damaging	0.98
R7094:Or4a71	UTSW	2	89,357,902 (GRCm39)	missense	probably damaging	1.00
R7144:Or4a71	UTSW	2	89,357,901 (GRCm39)	missense	probably damaging	1.00
R7972:Or4a71	UTSW	2	89,357,948 (GRCm39)	missense	probably benign	0.02
R9101:Or4a71	UTSW	2	89,358,721 (GRCm39)	missense	possibly damaging	0.93
R9112:Or4a71	UTSW	2	89,358,337 (GRCm39)	missense	probably damaging	1.00
R9179:Or4a71	UTSW	2	89,358,494 (GRCm39)	nonsense	probably null
R9193:Or4a71	UTSW	2	89,357,987 (GRCm39)	missense	probably damaging	1.00
R9708:Or4a71	UTSW	2	89,358,214 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACAGGTGGACAGAGCTTTG -3'
(R):5'- GCATGCTCCAGCTCTTTGTAG -3'

Sequencing Primer
(F):5'- GACAGAGCTTTGCGCCTTC -3'
(R):5'- CTCTTTGTAGAGCACTTATTTGGAG -3'

Posted On

2020-01-23