Incidental Mutation 'IGL00225:Olfr472'
ID2333
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: 0.083) question?
Stock #IGL00225
Quality Score
Status
Chromosome7
Chromosomal Location107897902-107907762 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 107903104 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 129 (P129L)
Ref Sequence ENSEMBL: ENSMUSP00000150404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000209670] [ENSMUST00000210420] [ENSMUST00000216937]
Predicted Effect probably damaging
Transcript: ENSMUST00000084760
AA Change: P129L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081815
Gene: ENSMUSG00000063120
AA Change: P129L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.6e-49 PFAM
Pfam:7tm_1 41 290 8.1e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209670
AA Change: P129L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000210420
AA Change: P129L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210856
AA Change: P129L
Predicted Effect probably damaging
Transcript: ENSMUST00000216937
AA Change: P129L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Flii T C 11: 60,723,415 N93D probably benign Het
Gm8356 T C 14: 6,537,141 K24E probably damaging Het
Hars G A 18: 36,768,172 T409M probably damaging Het
Ivns1abp A G 1: 151,351,112 probably null Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Kdm4c T G 4: 74,345,567 V696G probably benign Het
Klrb1f T A 6: 129,053,175 probably benign Het
Lrp4 G A 2: 91,495,026 V1399I probably benign Het
Mki67 A G 7: 135,690,120 V3168A probably benign Het
Nf1 T A 11: 79,395,905 I177K probably damaging Het
Nnt A T 13: 119,369,997 N371K probably damaging Het
Olfr60 A G 7: 140,345,210 Y260H probably damaging Het
Oraov1 G A 7: 144,917,668 G86D possibly damaging Het
Prkdc G T 16: 15,809,644 V3389L possibly damaging Het
Prr16 T A 18: 51,303,120 Y224N possibly damaging Het
Ptgs1 G A 2: 36,237,219 C39Y probably damaging Het
Sla T C 15: 66,782,630 D269G possibly damaging Het
Stk38l T A 6: 146,758,473 M1K probably null Het
Trim24 T A 6: 37,903,648 N160K possibly damaging Het
Zfp451 A G 1: 33,786,540 probably benign Het
Other mutations in Olfr472
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02002:Olfr472 APN 7 107903290 missense possibly damaging 0.81
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
R7818:Olfr472 UTSW 7 107903023 missense probably benign 0.01
R7890:Olfr472 UTSW 7 107903043 missense probably benign 0.01
R8189:Olfr472 UTSW 7 107902732 missense probably damaging 0.99
R8301:Olfr472 UTSW 7 107903626 missense probably benign 0.24
Z1176:Olfr472 UTSW 7 107903058 missense probably damaging 1.00
Posted On2011-12-09