Incidental Mutation 'IGL02015:Olfr572'
ID183690
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr572
Ensembl Gene ENSMUSG00000073963
Gene Nameolfactory receptor 572
SynonymsGA_x6K02T2PBJ9-5638785-5639741, MOR10-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL02015
Quality Score
Status
Chromosome7
Chromosomal Location102924409-102928608 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 102928192 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 188 (R188H)
Ref Sequence ENSEMBL: ENSMUSP00000149174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098214] [ENSMUST00000214096] [ENSMUST00000215782]
Predicted Effect probably benign
Transcript: ENSMUST00000098214
AA Change: R188H

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000095816
Gene: ENSMUSG00000073963
AA Change: R188H

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 3.6e-119 PFAM
Pfam:7TM_GPCR_Srsx 37 309 2e-7 PFAM
Pfam:7tm_1 43 294 1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214096
AA Change: R188H

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000215782
AA Change: R188H

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9l C A 9: 44,508,801 probably null Het
C1qtnf12 A G 4: 155,962,744 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
D430041D05Rik A G 2: 104,230,404 Y1382H probably damaging Het
Fut1 A T 7: 45,618,975 M118L probably damaging Het
Fzd5 A T 1: 64,736,342 C87S probably damaging Het
Gmcl1 A G 6: 86,707,457 V361A possibly damaging Het
Inpp4a T G 1: 37,389,712 F700V probably damaging Het
Klk1b21 A T 7: 44,104,358 Q22L probably benign Het
Lrp2 T A 2: 69,527,578 Q369L probably benign Het
Mtor C T 4: 148,540,113 Q2117* probably null Het
Naip2 A T 13: 100,161,607 S640R possibly damaging Het
Nt5e T C 9: 88,367,237 I408T probably damaging Het
Olfr509 T A 7: 108,646,013 N188Y probably damaging Het
Olfr924 T C 9: 38,848,794 S227P probably damaging Het
Plxna1 A G 6: 89,342,451 L590P probably damaging Het
Ppp1r35 T C 5: 137,780,031 probably benign Het
Prmt2 G A 10: 76,226,255 Q39* probably null Het
Ptprg A T 14: 12,237,782 N1413I possibly damaging Het
Ranbp10 C A 8: 105,779,990 G233C probably damaging Het
Rapgef2 A G 3: 79,092,064 probably benign Het
Rilpl2 T C 5: 124,469,813 T115A probably benign Het
Scaf4 T C 16: 90,258,846 S108G unknown Het
Scn10a C T 9: 119,664,951 V430M probably benign Het
Sf3b3 T C 8: 110,816,290 E845G possibly damaging Het
Skint2 C T 4: 112,624,128 R63* probably null Het
Slc35b4 A T 6: 34,170,548 V35D probably damaging Het
Slc6a3 A T 13: 73,544,714 Y151F possibly damaging Het
Susd1 G A 4: 59,315,745 T689I possibly damaging Het
Tbx21 T C 11: 97,098,914 D484G probably benign Het
Tln2 C T 9: 67,361,439 probably benign Het
Traf3 A G 12: 111,252,740 N242S probably benign Het
Xiap T A X: 42,096,610 probably benign Het
Zcchc6 A G 13: 59,789,258 Y790H probably damaging Het
Other mutations in Olfr572
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01567:Olfr572 APN 7 102928416 missense probably benign 0.03
IGL02466:Olfr572 APN 7 102928516 missense possibly damaging 0.88
R0632:Olfr572 UTSW 7 102928604 splice site probably null
R1852:Olfr572 UTSW 7 102928441 missense probably damaging 1.00
R2033:Olfr572 UTSW 7 102928408 missense probably benign 0.00
R2679:Olfr572 UTSW 7 102928031 nonsense probably null
R4520:Olfr572 UTSW 7 102928557 missense probably benign
R4596:Olfr572 UTSW 7 102928251 missense possibly damaging 0.74
R5538:Olfr572 UTSW 7 102928521 missense probably damaging 1.00
R6477:Olfr572 UTSW 7 102928378 missense probably damaging 1.00
R7028:Olfr572 UTSW 7 102927942 missense probably damaging 1.00
R8034:Olfr572 UTSW 7 102928566 nonsense probably null
Z1177:Olfr572 UTSW 7 102927644 missense probably damaging 1.00
Posted On2014-05-07