Mutagenetix > Incidental Mutation

Incidental Mutation 'R2221:Or4a71'

241472

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

040223-MU

Accession Numbers

Essential gene?

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

Stock #

R2221 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89357835-89358752 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 89358281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 158 (V158I)

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: V158I

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

SMART Domains

Protein: ENSMUSP00000097363
Gene: ENSMUSG00000075084
AA Change: V158I

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: V158I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216635

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (58/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	C	4: 86,306,762 (GRCm39)	D1392A	probably benign	Het
Afdn	T	C	17: 14,103,999 (GRCm39)		probably benign	Het
Aph1b	A	T	9: 66,691,921 (GRCm39)	M121K	probably damaging	Het
Aspg	G	A	12: 112,080,868 (GRCm39)	A120T	probably damaging	Het
Bicd1	A	G	6: 149,418,503 (GRCm39)	T725A	probably damaging	Het
Cd1d2	A	T	3: 86,895,847 (GRCm39)	I292F	probably damaging	Het
Cdcp3	A	T	7: 130,849,186 (GRCm39)		probably null	Het
Cdk13	A	G	13: 17,894,120 (GRCm39)	V495A	probably damaging	Het
Cfd	A	T	10: 79,728,039 (GRCm39)		probably null	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Cradd	A	C	10: 95,011,735 (GRCm39)	V135G	probably benign	Het
Cry1	A	G	10: 84,979,617 (GRCm39)	C460R	probably damaging	Het
Ctu2	A	G	8: 123,207,649 (GRCm39)	E375G	probably damaging	Het
Dym	T	G	18: 75,363,236 (GRCm39)	I580S	probably damaging	Het
Eif3e	A	G	15: 43,114,943 (GRCm39)	L411P	possibly damaging	Het
Emsy	T	C	7: 98,239,982 (GRCm39)	E1091G	possibly damaging	Het
Enkur	A	G	2: 21,194,130 (GRCm39)		probably benign	Het
Fam184a	G	A	10: 53,531,175 (GRCm39)	T733M	probably damaging	Het
Frem2	G	A	3: 53,424,278 (GRCm39)	A3053V	probably benign	Het
Gbgt1	T	C	2: 28,388,435 (GRCm39)	L40P	probably damaging	Het
Gm5174	T	A	10: 86,492,372 (GRCm39)		noncoding transcript	Het
Gys2	G	T	6: 142,402,148 (GRCm39)	D230E	probably damaging	Het
Herc2	T	A	7: 55,818,766 (GRCm39)		probably null	Het
Hps3	A	T	3: 20,056,527 (GRCm39)	S815R	probably benign	Het
Igf1r	C	A	7: 67,851,710 (GRCm39)	S983R	probably damaging	Het
Itsn1	T	A	16: 91,650,656 (GRCm39)		probably benign	Het
Kcnc2	A	G	10: 112,292,431 (GRCm39)	N91D	probably damaging	Het
Kif28	C	A	1: 179,560,676 (GRCm39)	A210S	possibly damaging	Het
Klri2	T	A	6: 129,717,272 (GRCm39)	Q37L	probably damaging	Het
Lrrc38	T	A	4: 143,096,419 (GRCm39)	C243*	probably null	Het
Map3k5	T	C	10: 19,943,666 (GRCm39)	V590A	possibly damaging	Het
Mdn1	C	A	4: 32,763,306 (GRCm39)	F5135L	probably benign	Het
Megf11	G	A	9: 64,567,713 (GRCm39)	G401S	possibly damaging	Het
Mst1r	T	C	9: 107,785,547 (GRCm39)	F402L	probably damaging	Het
Ntrk3	T	C	7: 77,848,600 (GRCm39)	I759V	probably damaging	Het
Nup188	T	C	2: 30,226,936 (GRCm39)		probably benign	Het
Or8b12i	T	C	9: 20,082,388 (GRCm39)	S160G	possibly damaging	Het
Prdm2	T	C	4: 142,861,469 (GRCm39)	N607S	possibly damaging	Het
Prl2a1	T	A	13: 27,990,369 (GRCm39)		probably null	Het
Serpina9	T	A	12: 103,964,523 (GRCm39)	I305F	probably damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc19a1	C	T	10: 76,878,320 (GRCm39)	T285I	probably benign	Het
Snap91	T	C	9: 86,674,580 (GRCm39)	T544A	possibly damaging	Het
Srgap3	A	G	6: 112,923,454 (GRCm39)	S2P	probably damaging	Het
Tcof1	A	G	18: 60,970,973 (GRCm39)	V210A	possibly damaging	Het
Tex261	A	G	6: 83,748,497 (GRCm39)	I136T	probably benign	Het
Trpa1	A	T	1: 14,973,480 (GRCm39)	F279L	probably null	Het
Ttc39b	T	C	4: 83,150,999 (GRCm39)	N532S	probably benign	Het
Ttn	T	C	2: 76,572,438 (GRCm39)	T26152A	probably damaging	Het
Ube2w	A	G	1: 16,668,183 (GRCm39)	S97P	possibly damaging	Het
Vmn1r25	A	C	6: 57,956,223 (GRCm39)	L22R	probably damaging	Het
Vmn1r64	T	C	7: 5,887,448 (GRCm39)	I32V	probably benign	Het
Vmn2r112	T	G	17: 22,820,214 (GRCm39)	M29R	possibly damaging	Het
Vmn2r71	T	A	7: 85,273,301 (GRCm39)	M705K	probably benign	Het
Vps13b	G	A	15: 35,884,743 (GRCm39)	V3139I	probably benign	Het
Zfp628	T	C	7: 4,923,830 (GRCm39)	V684A	probably benign	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
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
R8013:Or4a71	UTSW	2	89,358,280 (GRCm39)	missense	probably benign	0.05
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'- TACAGGTGGACAGAGCTTTGC -3'
(R):5'- TGCATGCTCCAGCTCTTTGTAG -3'

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

Posted On

2014-10-15