Incidental Mutation 'IGL01457:Olfr571'
ID84849
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr571
Ensembl Gene ENSMUSG00000043310
Gene Nameolfactory receptor 571
SynonymsMOR21-1, GA_x6K02T2PBJ9-5620890-5619922
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.145) question?
Stock #IGL01457
Quality Score
Status
Chromosome7
Chromosomal Location102905090-102917536 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 102909719 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 40 (I40T)
Ref Sequence ENSEMBL: ENSMUSP00000148964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061738] [ENSMUST00000214160] [ENSMUST00000215773]
Predicted Effect possibly damaging
Transcript: ENSMUST00000061738
AA Change: I40T

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000062385
Gene: ENSMUSG00000043310
AA Change: I40T

DomainStartEndE-ValueType
Pfam:7tm_4 39 318 8.9e-91 PFAM
Pfam:7TM_GPCR_Srsx 43 177 3.1e-8 PFAM
Pfam:7tm_1 49 299 1.6e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214160
AA Change: I40T

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215773
AA Change: I40T

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,660,951 Y1019F probably benign Het
4930455H04Rik T G 3: 116,968,551 probably benign Het
4930548H24Rik A T 5: 31,487,427 I175L probably benign Het
4932415D10Rik C A 10: 82,284,734 K4147N probably damaging Het
9830107B12Rik A T 17: 48,128,583 probably benign Het
Abcc8 A G 7: 46,135,493 V737A possibly damaging Het
Adamts20 T A 15: 94,331,448 Y930F probably damaging Het
Alkbh8 T A 9: 3,369,825 F365I probably damaging Het
App G A 16: 85,103,239 H108Y probably damaging Het
Bfsp1 T C 2: 143,827,644 probably benign Het
Cabin1 T C 10: 75,742,429 N478S probably damaging Het
Camsap3 G A 8: 3,604,795 V796I probably damaging Het
Carns1 A T 19: 4,166,499 probably null Het
Clca1 C T 3: 145,007,778 M697I probably benign Het
Cltc C T 11: 86,702,248 M1600I probably benign Het
Cnot1 T A 8: 95,741,009 N1499Y probably damaging Het
Crebbp T A 16: 4,124,768 I196L probably damaging Het
Drc3 C A 11: 60,358,649 probably benign Het
Fam161a T A 11: 23,020,702 Y234* probably null Het
Il1r1 C A 1: 40,313,170 P500Q probably damaging Het
Katnal1 G T 5: 148,893,797 probably benign Het
Klhdc2 A G 12: 69,297,053 N20S probably benign Het
Kmt2e A T 5: 23,502,019 T1527S possibly damaging Het
Magi1 C T 6: 93,747,224 G270D probably damaging Het
Mdn1 T A 4: 32,715,922 S2035T possibly damaging Het
Mki67 A T 7: 135,699,546 M1253K probably benign Het
Myh7 T C 14: 54,988,879 M435V possibly damaging Het
Myh8 A G 11: 67,292,679 I739V probably benign Het
Npnt T C 3: 132,885,982 K430R probably damaging Het
Nrd1 A G 4: 109,047,660 N696S probably benign Het
Oit3 T C 10: 59,425,484 probably benign Het
Olfr1350 A G 7: 6,570,212 T74A probably benign Het
Olfr478 A T 7: 108,032,121 I74K possibly damaging Het
Olfr642 A G 7: 104,050,169 Y62H probably damaging Het
Pkd1 G A 17: 24,594,821 probably null Het
Plat A G 8: 22,776,828 M279V probably benign Het
Prkd1 A T 12: 50,392,910 L378* probably null Het
Rasgef1a C T 6: 118,084,545 T157I probably benign Het
Rbm22 A G 18: 60,560,857 N11S probably damaging Het
Ros1 T C 10: 52,046,330 probably benign Het
Sema6d T A 2: 124,653,642 F3Y unknown Het
Sis T C 3: 72,961,021 D112G probably benign Het
Slit1 C A 19: 41,611,044 G1023C probably damaging Het
Sptb T C 12: 76,612,555 probably benign Het
Sspo T C 6: 48,498,343 I4881T probably benign Het
Supt6 C A 11: 78,221,143 D1038Y probably damaging Het
Tbc1d2b A T 9: 90,205,091 L945Q probably damaging Het
Tgfbr3 G T 5: 107,149,898 A212E probably damaging Het
Tipin A G 9: 64,304,408 T259A probably benign Het
Traip T C 9: 107,970,472 S365P probably benign Het
Tst T C 15: 78,399,767 T287A probably benign Het
Tube1 C T 10: 39,145,722 probably benign Het
Uhrf1bp1l T C 10: 89,805,762 S932P probably benign Het
Vmn1r37 T A 6: 66,731,409 N6K probably damaging Het
Vmn2r111 C A 17: 22,571,985 E111* probably null Het
Vmn2r17 C T 5: 109,453,032 T732I probably benign Het
Vmn2r69 A T 7: 85,406,628 D767E possibly damaging Het
Other mutations in Olfr571
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Olfr571 APN 7 102909272 missense probably damaging 1.00
IGL01962:Olfr571 APN 7 102909847 utr 5 prime probably benign
IGL02110:Olfr571 APN 7 102909195 missense probably benign 0.13
R0306:Olfr571 UTSW 7 102909803 missense probably benign
R0790:Olfr571 UTSW 7 102909636 missense probably benign 0.02
R3791:Olfr571 UTSW 7 102909032 missense probably benign 0.14
R6461:Olfr571 UTSW 7 102909028 missense possibly damaging 0.62
R6793:Olfr571 UTSW 7 102909728 missense probably benign 0.00
Posted On2013-11-11