Incidental Mutation 'IGL02864:Pramel46'
ID 362266
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pramel46
Ensembl Gene ENSMUSG00000096066
Gene Name PRAME like 46
Synonyms Gm10424
Accession Numbers
Essential gene? Not available question?
Stock # IGL02864
Quality Score
Status
Chromosome 5
Chromosomal Location 95416588-95420614 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 95418543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 151 (A151E)
Ref Sequence ENSEMBL: ENSMUSP00000144603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000180232] [ENSMUST00000201031]
AlphaFold A0A0J9YVD0
Predicted Effect probably benign
Transcript: ENSMUST00000180232
AA Change: A151E

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000136878
Gene: ENSMUSG00000096066
AA Change: A151E

DomainStartEndE-ValueType
SCOP:d1a4ya_ 210 401 2e-13 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000201031
AA Change: A151E

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000144603
Gene: ENSMUSG00000096066
AA Change: A151E

DomainStartEndE-ValueType
SCOP:d1a4ya_ 210 401 7e-14 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,937,080 (GRCm39) R347G probably damaging Het
Actl11 G A 9: 107,806,186 (GRCm39) A170T probably benign Het
Alpk2 T C 18: 65,440,670 (GRCm39) D241G probably benign Het
Arap2 A T 5: 62,835,308 (GRCm39) W745R probably damaging Het
Arhgef7 G A 8: 11,865,247 (GRCm39) V401I possibly damaging Het
Cacna1d A G 14: 29,773,663 (GRCm39) V1709A probably benign Het
Ccl20 T C 1: 83,095,799 (GRCm39) probably null Het
Cd209d C T 8: 3,927,122 (GRCm39) V48I probably benign Het
Cttnbp2 T C 6: 18,374,548 (GRCm39) N1559S probably benign Het
Dnah9 T C 11: 65,951,829 (GRCm39) Y1890C probably damaging Het
Dsel A T 1: 111,786,944 (GRCm39) M1197K probably damaging Het
Dtl A T 1: 191,288,938 (GRCm39) S259T probably benign Het
Fbxw10 G A 11: 62,764,349 (GRCm39) G672D probably damaging Het
Fhod1 C T 8: 106,063,796 (GRCm39) probably benign Het
Gstk1 A G 6: 42,224,687 (GRCm39) Y135C possibly damaging Het
Gtpbp2 G A 17: 46,476,520 (GRCm39) C282Y probably benign Het
Hapln3 A T 7: 78,767,812 (GRCm39) W113R probably benign Het
Ifng A G 10: 118,278,561 (GRCm39) Y74C probably damaging Het
Kyat1 C A 2: 30,082,089 (GRCm39) probably benign Het
Las1l A T X: 94,991,446 (GRCm39) D308E possibly damaging Het
Mdh1b T A 1: 63,760,762 (GRCm39) T100S probably benign Het
Nrap A T 19: 56,338,806 (GRCm39) M810K probably damaging Het
Otof T C 5: 30,543,685 (GRCm39) D593G probably damaging Het
Pnma5 A T X: 72,079,457 (GRCm39) D408E probably benign Het
Psen2 T C 1: 180,073,268 (GRCm39) T18A probably benign Het
Ptk7 A T 17: 46,883,659 (GRCm39) V802E probably damaging Het
Setd1b G A 5: 123,297,002 (GRCm39) probably benign Het
Snap91 T C 9: 86,720,141 (GRCm39) N132S possibly damaging Het
Spag9 A G 11: 93,997,487 (GRCm39) H675R probably damaging Het
Tpra1 C A 6: 88,888,868 (GRCm39) P350H probably damaging Het
Trim43a C T 9: 88,470,165 (GRCm39) R324C probably benign Het
Ttn T C 2: 76,566,675 (GRCm39) I28073V probably benign Het
Ttn G T 2: 76,767,095 (GRCm39) H3023Q probably benign Het
Vmn1r21 A G 6: 57,820,661 (GRCm39) V261A probably benign Het
Vwa5b1 G A 4: 138,336,286 (GRCm39) P103S probably benign Het
Wars1 A G 12: 108,848,791 (GRCm39) M52T probably benign Het
Zcchc2 C T 1: 105,943,814 (GRCm39) H460Y probably damaging Het
Zscan12 G T 13: 21,552,730 (GRCm39) V185F probably benign Het
Other mutations in Pramel46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01860:Pramel46 APN 5 95,418,510 (GRCm39) missense probably benign 0.17
R6493:Pramel46 UTSW 5 95,418,684 (GRCm39) missense probably damaging 1.00
R7546:Pramel46 UTSW 5 95,418,171 (GRCm39) missense possibly damaging 0.68
R8765:Pramel46 UTSW 5 95,419,447 (GRCm39) start codon destroyed probably null 1.00
R9168:Pramel46 UTSW 5 95,418,133 (GRCm39) missense probably benign 0.00
R9181:Pramel46 UTSW 5 95,418,414 (GRCm39) missense probably benign 0.20
Posted On 2015-12-18