Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02553:Or4a71'

298551

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or4a71

Ensembl Gene

ENSMUSG00000075084

Gene Name

olfactory receptor family 4 subfamily A member 71

Synonyms

Olfr1243, MOR231-4, GA_x6K02T2Q125-50972538-50971621

Accession Numbers

Essential gene?

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

Stock #

IGL02553

Quality Score

Status

Chromosome

Chromosomal Location

89357835-89358752 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89358275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 160 (T160A)

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: T160A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097363
Gene: ENSMUSG00000075084
AA Change: T160A

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: T160A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216635

Coding Region Coverage

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,242,750 (GRCm39)	S1326P	probably damaging	Het
Alpk1	A	T	3: 127,466,970 (GRCm39)	L1103Q	probably damaging	Het
Arhgap11a	A	C	2: 113,667,906 (GRCm39)		probably benign	Het
Arl6ip6	A	G	2: 53,082,226 (GRCm39)	Y31C	possibly damaging	Het
Arpin	G	T	7: 79,577,395 (GRCm39)	D217E	possibly damaging	Het
Atp13a4	C	T	16: 29,241,521 (GRCm39)	V735I	probably benign	Het
Ccdc146	A	T	5: 21,502,631 (GRCm39)	F753L	probably benign	Het
Cdh3	T	A	8: 107,270,880 (GRCm39)	L511*	probably null	Het
Chrna1	A	T	2: 73,397,206 (GRCm39)	I361N	possibly damaging	Het
Clk2	G	A	3: 89,083,020 (GRCm39)	R432H	probably damaging	Het
Col9a1	T	C	1: 24,261,018 (GRCm39)		probably benign	Het
Cstf1	G	T	2: 172,219,774 (GRCm39)	R295L	probably benign	Het
Dsg2	A	G	18: 20,725,467 (GRCm39)	D526G	probably damaging	Het
Dsg4	T	A	18: 20,595,577 (GRCm39)	H593Q	probably benign	Het
Dysf	T	C	6: 84,107,109 (GRCm39)	Y1171H	possibly damaging	Het
Erbb4	A	G	1: 68,345,023 (GRCm39)	L566P	probably benign	Het
Fam185a	T	A	5: 21,660,829 (GRCm39)	D281E	probably damaging	Het
Fam185a	T	A	5: 21,634,839 (GRCm39)		probably benign	Het
Fam91a1	T	A	15: 58,304,831 (GRCm39)		probably null	Het
Fat2	A	G	11: 55,202,109 (GRCm39)	W322R	probably damaging	Het
Fbxw8	T	A	5: 118,204,125 (GRCm39)		probably benign	Het
Ganc	A	G	2: 120,288,615 (GRCm39)	T874A	probably benign	Het
Gm3543	T	C	14: 41,802,048 (GRCm39)	I145M	probably benign	Het
Gtf2i	G	A	5: 134,274,015 (GRCm39)	T712I	probably damaging	Het
Hk1	A	G	10: 62,131,552 (GRCm39)	S268P	possibly damaging	Het
Hmcn1	A	G	1: 150,868,774 (GRCm39)	V10A	probably benign	Het
Hsd17b4	C	T	18: 50,295,164 (GRCm39)		probably benign	Het
Ighv1-75	A	T	12: 115,797,725 (GRCm39)	W66R	probably damaging	Het
Kif21b	G	T	1: 136,081,859 (GRCm39)	D636Y	probably damaging	Het
Kif5b	A	T	18: 6,220,914 (GRCm39)	I398N	probably benign	Het
Metap2	T	C	10: 93,701,311 (GRCm39)	M165V	probably damaging	Het
Mterf2	A	C	10: 84,956,331 (GRCm39)	L98V	probably damaging	Het
Muc16	A	G	9: 18,409,849 (GRCm39)		probably null	Het
Myo3b	A	G	2: 69,925,568 (GRCm39)	M12V	probably benign	Het
Nat10	C	A	2: 103,583,013 (GRCm39)	R136I	probably damaging	Het
Nsd2	T	G	5: 34,003,542 (GRCm39)	S231A	probably damaging	Het
Or4k37	A	T	2: 111,159,333 (GRCm39)	M190L	probably benign	Het
Pcdhb14	T	A	18: 37,581,071 (GRCm39)	L59*	probably null	Het
Pias4	A	G	10: 80,999,621 (GRCm39)	L144P	probably damaging	Het
Plxna2	T	A	1: 194,433,746 (GRCm39)	N598K	probably benign	Het
Polq	A	G	16: 36,862,130 (GRCm39)	Y550C	probably damaging	Het
Pot1b	T	A	17: 56,002,024 (GRCm39)		probably benign	Het
Proz	T	C	8: 13,115,260 (GRCm39)	V92A	probably benign	Het
Rab4a	T	C	8: 124,550,561 (GRCm39)	F14L	probably benign	Het
Riok3	T	A	18: 12,276,073 (GRCm39)	C256*	probably null	Het
Slc6a1	T	A	6: 114,279,451 (GRCm39)		probably benign	Het
Socs5	C	T	17: 87,442,419 (GRCm39)	T453M	probably damaging	Het
Spata3	T	C	1: 85,952,211 (GRCm39)	L135P	probably damaging	Het
Spata46	A	G	1: 170,139,534 (GRCm39)	K178E	probably damaging	Het
Spr	T	C	6: 85,114,430 (GRCm39)	N100D	probably damaging	Het
Srrm4	C	T	5: 116,582,624 (GRCm39)		probably benign	Het
Stard3	T	C	11: 98,267,389 (GRCm39)	F169S	possibly damaging	Het
Tbx1	T	A	16: 18,402,847 (GRCm39)	D222V	probably damaging	Het
Trbv23	C	T	6: 41,193,279 (GRCm39)	Q56*	probably null	Het
Tsc22d1	A	G	14: 76,654,838 (GRCm39)	N357S	possibly damaging	Het
Ugt1a6a	C	T	1: 88,066,811 (GRCm39)	P206S	probably benign	Het
Utp20	A	G	10: 88,600,657 (GRCm39)	V19A	probably damaging	Het
Vps13b	A	G	15: 35,646,447 (GRCm39)	N1517S	probably benign	Het
Washc2	T	C	6: 116,218,571 (GRCm39)	I672T	probably 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
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
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

Posted On

2015-04-16