Incidental Mutation 'IGL01755:Olfr1472'
ID 153178
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1472
Ensembl Gene ENSMUSG00000095189
Gene Name olfactory receptor 1472
Synonyms GA_x6K02T2RE5P-3787124-3786180, MOR202-16
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.150) question?
Stock # IGL01755
Quality Score
Status
Chromosome 19
Chromosomal Location 13453280-13456086 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13453815 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 234 (K234R)
Ref Sequence ENSEMBL: ENSMUSP00000093915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077501] [ENSMUST00000096201]
AlphaFold Q7TQQ9
Predicted Effect probably damaging
Transcript: ENSMUST00000077501
AA Change: K234R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076707
Gene: ENSMUSG00000095189
AA Change: K234R

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.4e-51 PFAM
Pfam:7TM_GPCR_Srsx 33 303 5.2e-8 PFAM
Pfam:7tm_1 39 288 6.9e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000096201
AA Change: K234R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093915
Gene: ENSMUSG00000095189
AA Change: K234R

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 3.9e-53 PFAM
Pfam:7TM_GPCR_Srsx 34 304 2.6e-6 PFAM
Pfam:7tm_1 40 289 1.2e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213561
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik T A 17: 33,066,977 N284Y probably damaging Het
Atf6 A G 1: 170,788,611 I520T possibly damaging Het
Azgp1 A T 5: 137,989,847 K297M possibly damaging Het
Cyp2e1 A G 7: 140,774,556 probably null Het
Dapk1 C A 13: 60,761,175 L1201M probably damaging Het
Dapk1 T A 13: 60,761,176 L1201Q possibly damaging Het
Insrr A T 3: 87,814,186 D1133V probably damaging Het
Kcnc4 T C 3: 107,448,175 N319S probably damaging Het
Kctd1 A G 18: 15,062,637 C310R possibly damaging Het
Nefl A G 14: 68,086,077 D384G probably damaging Het
Nfatc3 A G 8: 106,127,921 N1029S probably benign Het
Nup107 T C 10: 117,774,493 Y348C probably damaging Het
Olfr1151 T A 2: 87,857,510 C112S possibly damaging Het
Phldb2 T C 16: 45,825,582 E212G probably damaging Het
Pirb A T 7: 3,717,170 N401K probably benign Het
Plcg2 T C 8: 117,621,241 F1183S possibly damaging Het
Plekhf2 A T 4: 10,991,308 N11K probably damaging Het
Slc7a11 A G 3: 50,424,067 Y241H probably benign Het
Sltm T G 9: 70,583,922 probably null Het
Taf4b A G 18: 14,897,985 T809A probably benign Het
Taf4b C A 18: 14,897,986 T809N probably benign Het
Tesk1 T C 4: 43,445,820 probably null Het
Tspan8 C T 10: 115,835,298 T120M probably damaging Het
Ttn T G 2: 76,721,383 D31275A probably damaging Het
Vcl C A 14: 20,995,970 Q334K probably damaging Het
Zfp94 G A 7: 24,311,481 probably benign Het
Zkscan17 A G 11: 59,487,415 F314S probably damaging Het
Other mutations in Olfr1472
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Olfr1472 APN 19 13453840 missense possibly damaging 0.46
IGL01885:Olfr1472 APN 19 13454085 missense probably benign 0.00
IGL02366:Olfr1472 APN 19 13454127 missense probably damaging 1.00
IGL03074:Olfr1472 APN 19 13454053 missense probably damaging 0.98
R0592:Olfr1472 UTSW 19 13453705 missense probably benign 0.00
R1085:Olfr1472 UTSW 19 13454230 missense possibly damaging 0.75
R4207:Olfr1472 UTSW 19 13454471 missense probably benign 0.15
R4856:Olfr1472 UTSW 19 13454521 splice site probably null
R4886:Olfr1472 UTSW 19 13454521 splice site probably null
R5061:Olfr1472 UTSW 19 13453985 nonsense probably null
R5167:Olfr1472 UTSW 19 13454377 missense probably damaging 1.00
R5509:Olfr1472 UTSW 19 13453968 missense probably damaging 1.00
R5586:Olfr1472 UTSW 19 13454382 missense probably benign 0.02
R5987:Olfr1472 UTSW 19 13453960 missense possibly damaging 0.57
R6631:Olfr1472 UTSW 19 13453821 missense probably benign 0.00
R7976:Olfr1472 UTSW 19 13454199 missense probably benign
Posted On 2014-02-04