Incidental Mutation 'IGL02969:Pramel47'
ID 365738
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pramel47
Ensembl Gene ENSMUSG00000079424
Gene Name PRAME like 47
Synonyms Gm3259
Accession Numbers
Essential gene? Not available question?
Stock # IGL02969
Quality Score
Status
Chromosome 5
Chromosomal Location 95453782-95491434 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 95489258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 234 (P234S)
Ref Sequence ENSEMBL: ENSMUSP00000141099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101015] [ENSMUST00000160045] [ENSMUST00000185432]
AlphaFold D3YUK0
Predicted Effect probably benign
Transcript: ENSMUST00000101015
AA Change: P234S

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000098577
Gene: ENSMUSG00000079424
AA Change: P234S

DomainStartEndE-ValueType
SCOP:d1a4ya_ 199 388 4e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160045
SMART Domains Protein: ENSMUSP00000124254
Gene: ENSMUSG00000079424

DomainStartEndE-ValueType
SCOP:d1a4ya_ 62 191 1e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161225
Predicted Effect probably benign
Transcript: ENSMUST00000185432
AA Change: P234S

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141099
Gene: ENSMUSG00000079424
AA Change: P234S

DomainStartEndE-ValueType
SCOP:d1a4ya_ 199 359 2e-4 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A G 8: 79,946,866 (GRCm39) probably benign Het
Acsbg3 A T 17: 57,190,751 (GRCm39) T440S probably damaging Het
Akap12 T A 10: 4,304,864 (GRCm39) V558E probably damaging Het
Atg4c T C 4: 99,146,624 (GRCm39) probably benign Het
Atg7 T A 6: 114,701,884 (GRCm39) N673K possibly damaging Het
Brpf3 A G 17: 29,040,279 (GRCm39) D900G probably benign Het
C2cd5 T C 6: 143,025,669 (GRCm39) Y176C probably damaging Het
Cep70 A T 9: 99,180,557 (GRCm39) I571F possibly damaging Het
Cir1 C T 2: 73,134,120 (GRCm39) G150R probably null Het
Cyp46a1 T C 12: 108,309,296 (GRCm39) V68A probably damaging Het
Dlgap2 A G 8: 14,881,579 (GRCm39) T883A possibly damaging Het
Dnah2 C A 11: 69,412,013 (GRCm39) K249N possibly damaging Het
Dnajc11 A G 4: 152,062,503 (GRCm39) K434R probably benign Het
Eri3 A G 4: 117,506,508 (GRCm39) Y279C probably damaging Het
Hectd4 T A 5: 121,503,116 (GRCm39) Y4362N possibly damaging Het
Ilk A G 7: 105,389,547 (GRCm39) K85E possibly damaging Het
Insrr G T 3: 87,721,498 (GRCm39) G1135* probably null Het
Itgax T A 7: 127,748,295 (GRCm39) M1108K probably benign Het
Mpzl3 C T 9: 44,979,514 (GRCm39) T155I probably benign Het
Or4f57 A T 2: 111,790,912 (GRCm39) C169S probably damaging Het
Or6c212 A T 10: 129,559,065 (GRCm39) M116K probably damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polr2h A G 16: 20,537,807 (GRCm39) Y68C probably damaging Het
Rhobtb3 A G 13: 76,091,550 (GRCm39) S2P probably damaging Het
Slc24a5 T C 2: 124,925,147 (GRCm39) S263P probably damaging Het
Spz1 T G 13: 92,711,851 (GRCm39) K208N possibly damaging Het
Tbpl2 C A 2: 23,981,105 (GRCm39) C231F probably damaging Het
Tdrd6 T C 17: 43,938,440 (GRCm39) I869M probably damaging Het
Tesk1 G A 4: 43,447,027 (GRCm39) E472K possibly damaging Het
Tesk1 C A 4: 43,447,026 (GRCm39) C471* probably null Het
Thoc2l C T 5: 104,667,209 (GRCm39) T577I probably benign Het
Tmem213 T A 6: 38,092,601 (GRCm39) V111E probably damaging Het
Tmem232 A T 17: 65,563,558 (GRCm39) Y612N possibly damaging Het
Ttn T C 2: 76,729,707 (GRCm39) probably benign Het
Vmn2r113 G A 17: 23,177,591 (GRCm39) V792I probably benign Het
Wdfy1 A G 1: 79,691,588 (GRCm39) V273A probably benign Het
Wwp1 A G 4: 19,623,200 (GRCm39) S762P probably damaging Het
Other mutations in Pramel47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03148:Pramel47 APN 5 95,489,177 (GRCm39) missense possibly damaging 0.94
R0904:Pramel47 UTSW 5 95,489,186 (GRCm39) missense probably damaging 1.00
R6019:Pramel47 UTSW 5 95,488,072 (GRCm39) missense probably damaging 0.99
R7527:Pramel47 UTSW 5 95,490,409 (GRCm39) missense probably benign 0.03
R8493:Pramel47 UTSW 5 95,488,092 (GRCm39) missense possibly damaging 0.84
Posted On 2015-12-18