Incidental Mutation 'IGL00983:Or52b4i'
ID 306660
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52b4i
Ensembl Gene ENSMUSG00000073978
Gene Name olfactory receptor family 52 subfamily B member 4I
Synonyms Olfr548, MOR31-13, GA_x6K02T2PBJ9-5263046-5263989
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL00983
Quality Score
Status
Chromosome 7
Chromosomal Location 102191145-102192086 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102191593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 150 (I150N)
Ref Sequence ENSEMBL: ENSMUSP00000147923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098228] [ENSMUST00000210064]
AlphaFold A0A1B0GSG0
Predicted Effect possibly damaging
Transcript: ENSMUST00000098228
AA Change: I150N

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131106
Gene: ENSMUSG00000073978
AA Change: I150N

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 6.8e-104 PFAM
Pfam:7TM_GPCR_Srsx 37 280 1.6e-9 PFAM
Pfam:7tm_1 43 294 2.1e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000098228
AA Change: I150N

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000210064
AA Change: I150N

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C T 11: 58,771,438 (GRCm39) Q307* probably null Het
Acss3 A T 10: 106,802,825 (GRCm39) C473* probably null Het
Adgrg1 T A 8: 95,731,871 (GRCm39) S178T probably damaging Het
Anxa7 C A 14: 20,508,749 (GRCm39) L386F possibly damaging Het
Calcrl T C 2: 84,200,798 (GRCm39) E82G probably benign Het
Ccr9 C T 9: 123,608,351 (GRCm39) P11L probably benign Het
Cep164 C A 9: 45,686,554 (GRCm39) V887L possibly damaging Het
Dctn6 A G 8: 34,559,747 (GRCm39) L136P probably damaging Het
Dnase1 T C 16: 3,857,417 (GRCm39) V238A possibly damaging Het
Fat1 A G 8: 45,486,427 (GRCm39) Y3304C probably damaging Het
Fbxo31 A T 8: 122,281,069 (GRCm39) V359D possibly damaging Het
Gpr182 A G 10: 127,586,657 (GRCm39) I98T possibly damaging Het
Gspt1 C T 16: 11,048,861 (GRCm39) probably benign Het
Itgam C A 7: 127,667,839 (GRCm39) T70K probably damaging Het
Itpr2 A G 6: 146,212,479 (GRCm39) probably benign Het
Kank3 T A 17: 34,040,791 (GRCm39) M458K probably damaging Het
Kcnd2 A G 6: 21,714,153 (GRCm39) K379E possibly damaging Het
Macf1 C T 4: 123,275,915 (GRCm39) V4206I probably damaging Het
Mdn1 T C 4: 32,735,525 (GRCm39) L3397S probably damaging Het
Msh3 A T 13: 92,436,785 (GRCm39) N508K probably damaging Het
Mttp C A 3: 137,820,890 (GRCm39) probably benign Het
Nme5 G T 18: 34,700,181 (GRCm39) Q155K probably benign Het
Or13p3 A T 4: 118,567,119 (GRCm39) N172Y probably damaging Het
Or2r11 A T 6: 42,437,029 (GRCm39) I308N probably benign Het
Pfkp A T 13: 6,631,603 (GRCm39) W151R probably damaging Het
Pkd1l1 T A 11: 8,794,585 (GRCm39) T1859S probably benign Het
Pmvk T C 3: 89,374,890 (GRCm39) W96R probably damaging Het
Prdx6b T A 2: 80,123,539 (GRCm39) M116K probably damaging Het
Ptpro A C 6: 137,395,246 (GRCm39) L876F probably benign Het
Sdcbp G T 4: 6,392,953 (GRCm39) E197* probably null Het
Serpinb1c A T 13: 33,068,207 (GRCm39) S188R possibly damaging Het
Sorcs1 A T 19: 50,164,566 (GRCm39) D988E probably damaging Het
Tmbim1 C A 1: 74,334,422 (GRCm39) G46V probably damaging Het
Ubl4b C T 3: 107,461,756 (GRCm39) G168E unknown Het
Vmn2r91 T C 17: 18,325,820 (GRCm39) F146S probably benign Het
Zdhhc20 T C 14: 58,076,613 (GRCm39) N335D possibly damaging Het
Zzz3 T G 3: 152,161,447 (GRCm39) probably benign Het
Other mutations in Or52b4i
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01532:Or52b4i APN 7 102,191,863 (GRCm39) missense probably damaging 1.00
R0114:Or52b4i UTSW 7 102,191,938 (GRCm39) missense probably benign 0.32
R0398:Or52b4i UTSW 7 102,191,899 (GRCm39) missense probably damaging 1.00
R0426:Or52b4i UTSW 7 102,191,893 (GRCm39) missense probably damaging 1.00
R0616:Or52b4i UTSW 7 102,191,761 (GRCm39) missense possibly damaging 0.70
R1511:Or52b4i UTSW 7 102,191,332 (GRCm39) missense probably damaging 1.00
R1570:Or52b4i UTSW 7 102,191,177 (GRCm39) missense probably damaging 0.99
R4668:Or52b4i UTSW 7 102,191,811 (GRCm39) missense possibly damaging 0.95
R4825:Or52b4i UTSW 7 102,191,587 (GRCm39) missense possibly damaging 0.90
R6030:Or52b4i UTSW 7 102,191,817 (GRCm39) missense probably benign 0.01
R6030:Or52b4i UTSW 7 102,191,817 (GRCm39) missense probably benign 0.01
R6427:Or52b4i UTSW 7 102,191,895 (GRCm39) missense probably benign 0.05
R7108:Or52b4i UTSW 7 102,191,199 (GRCm39) missense probably damaging 0.99
R7451:Or52b4i UTSW 7 102,191,461 (GRCm39) missense probably benign 0.01
R7622:Or52b4i UTSW 7 102,191,830 (GRCm39) missense probably benign 0.00
R7940:Or52b4i UTSW 7 102,191,515 (GRCm39) missense possibly damaging 0.60
R8074:Or52b4i UTSW 7 102,191,830 (GRCm39) missense probably benign 0.00
R8133:Or52b4i UTSW 7 102,192,065 (GRCm39) missense probably benign 0.01
R8145:Or52b4i UTSW 7 102,191,830 (GRCm39) missense probably benign 0.00
X0058:Or52b4i UTSW 7 102,192,033 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16