Incidental Mutation 'IGL02002:Olfr472'
ID183075
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr472
Ensembl Gene ENSMUSG00000073893
Gene Nameolfactory receptor 472
SynonymsMOR204-5, GA_x6K02T2PBJ9-10231953-10232885
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL02002
Quality Score
Status
Chromosome7
Chromosomal Location107897902-107907762 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 107903290 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 191 (D191V)
Gene Model predicted gene model for transcript(s): [ENSMUST00000209670] [ENSMUST00000210420] [ENSMUST00000216937]
Predicted Effect possibly damaging
Transcript: ENSMUST00000084760
AA Change: D191V

PolyPhen 2 Score 0.810 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081815
Gene: ENSMUSG00000063120
AA Change: D191V

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.6e-49 PFAM
Pfam:7tm_1 41 290 8.1e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000209670
AA Change: D191V

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000210420
AA Change: D191V

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210856
Predicted Effect possibly damaging
Transcript: ENSMUST00000216937
AA Change: D191V

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A T 7: 28,152,796 Y1248F probably damaging Het
Abcg5 G T 17: 84,682,051 Y76* probably null Het
Acadsb T A 7: 131,428,529 V135E probably damaging Het
Acap1 A G 11: 69,884,460 Y326H probably damaging Het
Actl11 T A 9: 107,929,330 V284D probably benign Het
Adcy10 G T 1: 165,521,843 D428Y probably damaging Het
Akap8 A G 17: 32,309,496 C481R probably damaging Het
Amotl2 G A 9: 102,725,117 A26T probably damaging Het
Apob T C 12: 7,994,822 V814A probably benign Het
Casp8ap2 T A 4: 32,639,391 N148K probably damaging Het
Ccdc149 G A 5: 52,406,079 T124M probably damaging Het
Cd320 A G 17: 33,843,240 probably benign Het
Clca4b T C 3: 144,932,433 T23A probably benign Het
Col22a1 A G 15: 71,811,097 probably benign Het
Col24a1 T A 3: 145,356,944 F675I possibly damaging Het
Col6a3 A G 1: 90,782,136 probably benign Het
Dap3 A T 3: 88,936,228 M19K probably benign Het
Dsg2 A G 18: 20,579,176 D123G probably damaging Het
Dysf T A 6: 84,210,787 probably benign Het
Erbb4 A G 1: 68,080,726 S853P probably damaging Het
Fbn2 A G 18: 58,114,553 M423T probably benign Het
Fgfr1 T C 8: 25,555,711 Y112H probably damaging Het
Gbp7 G A 3: 142,538,900 A203T probably damaging Het
Gon4l C T 3: 88,895,336 P1085S possibly damaging Het
Gsdma2 T C 11: 98,650,974 F176L probably damaging Het
Haghl A G 17: 25,784,265 F131S probably damaging Het
Hmcn1 G A 1: 150,615,298 P4167S probably damaging Het
Hscb T C 5: 110,830,954 N199D probably benign Het
Lmbr1l T A 15: 98,904,785 N428Y probably damaging Het
Mc2r T A 18: 68,407,434 M263L probably benign Het
Metap1 T A 3: 138,462,389 T325S probably damaging Het
Mff A G 1: 82,741,975 R225G probably damaging Het
Naprt A T 15: 75,891,372 L474Q probably damaging Het
Nin A T 12: 70,062,699 Y155* probably null Het
Nrg3 A T 14: 38,370,767 C612* probably null Het
Olfr170 T C 16: 19,606,550 I39M possibly damaging Het
Olfr781 T A 10: 129,333,127 I82K probably damaging Het
Pdilt A T 7: 119,500,444 F200L probably damaging Het
Ppard T G 17: 28,298,903 F315C probably damaging Het
Ror1 T A 4: 100,441,184 S585T probably damaging Het
Spdye4a T A 5: 143,225,705 I35F possibly damaging Het
Tenm2 T C 11: 36,207,095 K442R probably benign Het
Tln2 A G 9: 67,356,698 I553T probably damaging Het
Tmem269 T A 4: 119,214,141 I26F probably benign Het
Tsen2 T C 6: 115,559,607 V108A probably benign Het
Ttyh3 A T 5: 140,629,483 D383E probably damaging Het
Usp13 T C 3: 32,847,825 S102P probably damaging Het
Vmn2r118 T G 17: 55,592,619 S762R probably damaging Het
Washc4 A G 10: 83,579,543 N799S possibly damaging Het
Zcchc6 A G 13: 59,782,096 S1042P possibly damaging Het
Zdhhc17 C T 10: 110,967,689 V256I probably benign Het
Zfp51 T A 17: 21,463,959 F279I probably damaging Het
Zzz3 A G 3: 152,451,369 T223A probably damaging Het
Other mutations in Olfr472
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00225:Olfr472 APN 7 107903104 missense probably damaging 1.00
IGL02320:Olfr472 APN 7 107902831 missense possibly damaging 0.78
IGL02701:Olfr472 APN 7 107903442 missense probably benign 0.42
IGL03022:Olfr472 APN 7 107902981 missense probably benign 0.18
IGL03214:Olfr472 APN 7 107902966 missense probably benign 0.00
IGL03257:Olfr472 APN 7 107902756 missense probably benign 0.01
IGL03372:Olfr472 APN 7 107903370 missense probably damaging 1.00
R0081:Olfr472 UTSW 7 107903005 missense probably benign 0.00
R0669:Olfr472 UTSW 7 107903239 missense probably damaging 1.00
R0932:Olfr472 UTSW 7 107903190 missense possibly damaging 0.94
R1158:Olfr472 UTSW 7 107902923 missense possibly damaging 0.75
R1746:Olfr472 UTSW 7 107902886 missense probably benign 0.01
R3777:Olfr472 UTSW 7 107902747 missense probably benign
R3778:Olfr472 UTSW 7 107902747 missense probably benign
R4605:Olfr472 UTSW 7 107903238 missense probably benign 0.24
R4661:Olfr472 UTSW 7 107902981 missense probably benign 0.18
R4675:Olfr472 UTSW 7 107903360 missense probably damaging 1.00
R5374:Olfr472 UTSW 7 107903491 missense possibly damaging 0.52
R5686:Olfr472 UTSW 7 107902912 missense probably damaging 0.99
R6030:Olfr472 UTSW 7 107903413 missense probably benign 0.06
R6030:Olfr472 UTSW 7 107903413 missense probably benign 0.06
R6164:Olfr472 UTSW 7 107903388 missense probably benign 0.01
R6347:Olfr472 UTSW 7 107902950 missense possibly damaging 0.68
R6995:Olfr472 UTSW 7 107903622 missense probably benign 0.13
R7035:Olfr472 UTSW 7 107902933 missense probably benign
Posted On2014-05-07