Incidental Mutation 'R0904:Pramel47'
ID 83243
Institutional Source Beutler Lab
Gene Symbol Pramel47
Ensembl Gene ENSMUSG00000079424
Gene Name PRAME like 47
Synonyms Gm3259
MMRRC Submission 039062-MU
Accession Numbers
Essential gene? Not available question?
Stock # R0904 (G1)
Quality Score 110
Status Not validated
Chromosome 5
Chromosomal Location 95453782-95491434 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 95489186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 210 (T210P)
Ref Sequence ENSEMBL: ENSMUSP00000141099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101015] [ENSMUST00000160045] [ENSMUST00000185432]
AlphaFold D3YUK0
Predicted Effect probably damaging
Transcript: ENSMUST00000101015
AA Change: T210P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000098577
Gene: ENSMUSG00000079424
AA Change: T210P

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 damaging
Transcript: ENSMUST00000185432
AA Change: T210P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141099
Gene: ENSMUSG00000079424
AA Change: T210P

DomainStartEndE-ValueType
SCOP:d1a4ya_ 199 359 2e-4 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 89% (34/38)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A G 8: 79,975,118 (GRCm39) probably benign Het
Abca13 T C 11: 9,248,740 (GRCm39) V2829A probably benign Het
Adk G T 14: 21,142,496 (GRCm39) D26Y probably damaging Het
Bpifb9a T C 2: 154,106,145 (GRCm39) probably benign Het
Dap G A 15: 31,272,526 (GRCm39) probably benign Het
Eqtn A T 4: 94,795,892 (GRCm39) S270T probably benign Het
Fam193a A G 5: 34,619,487 (GRCm39) D764G probably damaging Het
Fbxl6 A T 15: 76,421,283 (GRCm39) probably null Het
Gtf3c1 A T 7: 125,268,014 (GRCm39) probably benign Het
H2-D1 G C 17: 35,482,837 (GRCm39) M122I probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Map1s C A 8: 71,366,832 (GRCm39) P579Q probably damaging Het
Mapk10 A G 5: 103,135,146 (GRCm39) probably benign Het
Mllt6 C G 11: 97,555,824 (GRCm39) C51W probably damaging Het
Mzf1 C A 7: 12,786,698 (GRCm39) R124L possibly damaging Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Neurod2 G T 11: 98,218,147 (GRCm39) T339K probably benign Het
Nfya G A 17: 48,702,815 (GRCm39) Q29* probably null Het
Nipbl A T 15: 8,391,202 (GRCm39) D257E probably benign Het
Pate5 T C 9: 35,750,366 (GRCm39) D102G probably damaging Het
Pex5 G A 6: 124,376,896 (GRCm39) probably benign Het
Prx T A 7: 27,217,719 (GRCm39) F879Y probably damaging Het
Resf1 G A 6: 149,229,767 (GRCm39) A938T probably damaging Het
Scai G A 2: 38,965,164 (GRCm39) T560M possibly damaging Het
Slfn10-ps T C 11: 82,926,235 (GRCm39) noncoding transcript Het
Spdye4b A G 5: 143,181,423 (GRCm39) probably benign Het
Ss18l1 A G 2: 179,701,147 (GRCm39) Y287C probably damaging Het
Tpbg C A 9: 85,726,617 (GRCm39) F195L unknown Het
Trbv16 T C 6: 41,128,781 (GRCm39) probably benign Het
Unc5c A G 3: 141,509,601 (GRCm39) T620A probably benign Het
Vangl1 A G 3: 102,091,310 (GRCm39) S259P probably damaging Het
Vmn1r52 T A 6: 90,156,446 (GRCm39) M71K probably damaging Het
Vmn2r23 A T 6: 123,719,094 (GRCm39) I816F probably damaging Het
Zfp268 T C 4: 145,348,745 (GRCm39) Y61H possibly damaging Het
Other mutations in Pramel47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02969:Pramel47 APN 5 95,489,258 (GRCm39) missense probably benign 0.41
IGL03148:Pramel47 APN 5 95,489,177 (GRCm39) missense possibly damaging 0.94
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
Predicted Primers PCR Primer
(F):5'- GCAGCGTCTGAAGGTCATAGTCAAC -3'
(R):5'- GGCAGGCATCATGGACCACTAATC -3'

Sequencing Primer
(F):5'- GTCTGAAGGTCATAGTCAACCTGTC -3'
(R):5'- AGGACCTGATTCATGTAGTCTCTTAG -3'
Posted On 2013-11-08