Incidental Mutation 'IGL02508:Pramel28'
ID 296417
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pramel28
Ensembl Gene ENSMUSG00000078510
Gene Name PRAME like 28
Synonyms Gm13101
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL02508
Quality Score
Status
Chromosome 4
Chromosomal Location 143691088-143693520 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143691590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 378 (N378D)
Ref Sequence ENSEMBL: ENSMUSP00000101389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105763]
AlphaFold A2ASJ0
Predicted Effect probably benign
Transcript: ENSMUST00000105763
AA Change: N378D

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101389
Gene: ENSMUSG00000078510
AA Change: N378D

DomainStartEndE-ValueType
SCOP:d1a4ya_ 210 414 2e-9 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061I17Rik T A 3: 116,870,764 (GRCm39) noncoding transcript Het
Adgrv1 A T 13: 81,583,675 (GRCm39) probably benign Het
AI429214 T G 8: 37,461,240 (GRCm39) D129E probably benign Het
Alx1 G A 10: 102,858,054 (GRCm39) T215M probably damaging Het
Arhgap39 A G 15: 76,609,184 (GRCm39) *1079Q probably null Het
Brca2 T C 5: 150,466,773 (GRCm39) V2179A possibly damaging Het
Cdcp3 A G 7: 130,824,559 (GRCm39) E91G probably damaging Het
Celsr1 G A 15: 85,914,818 (GRCm39) Q1052* probably null Het
Chd5 A G 4: 152,447,481 (GRCm39) E510G probably damaging Het
Cntnap2 A G 6: 46,211,254 (GRCm39) D556G probably damaging Het
Cux2 G A 5: 121,998,885 (GRCm39) P1352S possibly damaging Het
Cyp4a31 A T 4: 115,428,261 (GRCm39) Y319F probably damaging Het
Dcaf12 C T 4: 41,296,310 (GRCm39) probably null Het
Dcc C A 18: 71,503,773 (GRCm39) A942S probably benign Het
Dyrk1a A T 16: 94,486,042 (GRCm39) D463V probably damaging Het
Eln T A 5: 134,733,422 (GRCm39) probably benign Het
Fbxl13 A G 5: 21,761,803 (GRCm39) probably null Het
Fndc3b T C 3: 27,512,900 (GRCm39) Y742C probably damaging Het
Furin G A 7: 80,042,269 (GRCm39) T442I probably benign Het
Gli1 T C 10: 127,172,961 (GRCm39) Q155R probably benign Het
Glra3 A G 8: 56,538,179 (GRCm39) E218G probably benign Het
Grb10 C T 11: 11,896,767 (GRCm39) V236M probably damaging Het
Grhl2 T C 15: 37,310,009 (GRCm39) probably benign Het
Hgfac A T 5: 35,204,564 (GRCm39) M579L probably damaging Het
Ifi202b A T 1: 173,802,338 (GRCm39) D165E probably benign Het
Klhl26 A T 8: 70,905,381 (GRCm39) D95E probably damaging Het
Klk12 T C 7: 43,419,113 (GRCm39) V26A probably benign Het
Lrp2 C T 2: 69,333,774 (GRCm39) G1489D probably benign Het
Lrrtm1 A T 6: 77,221,574 (GRCm39) S344C probably damaging Het
Lzts1 G A 8: 69,593,500 (GRCm39) R36* probably null Het
Mapkap1 T C 2: 34,408,681 (GRCm39) probably benign Het
Meis3 T A 7: 15,912,722 (GRCm39) probably null Het
Mtmr14 T A 6: 113,217,267 (GRCm39) C60S probably damaging Het
Nfkb1 T A 3: 135,296,579 (GRCm39) Y789F probably damaging Het
Nup54 G A 5: 92,565,398 (GRCm39) Q440* probably null Het
Ogdhl T G 14: 32,067,131 (GRCm39) M861R probably damaging Het
Or13c7b T C 4: 43,821,289 (GRCm39) E24G possibly damaging Het
Or4d10 G T 19: 12,051,251 (GRCm39) H248Q possibly damaging Het
Or4k42 C T 2: 111,320,180 (GRCm39) A108T probably damaging Het
Or52w1 A T 7: 105,017,743 (GRCm39) H61L possibly damaging Het
Or6c69b A G 10: 129,626,660 (GRCm39) V266A probably benign Het
Pde6c A G 19: 38,145,948 (GRCm39) K412R probably benign Het
Pex5l T C 3: 33,047,051 (GRCm39) probably benign Het
Pigr A T 1: 130,778,595 (GRCm39) I760L probably benign Het
Prr14l G A 5: 32,988,286 (GRCm39) A403V probably benign Het
Prrt3 T C 6: 113,471,268 (GRCm39) D968G probably damaging Het
Psmc5 T C 11: 106,153,869 (GRCm39) I401T possibly damaging Het
Ralyl T A 3: 14,172,332 (GRCm39) probably benign Het
Samd9l T C 6: 3,374,798 (GRCm39) E821G probably damaging Het
Serpinb3a T A 1: 106,973,802 (GRCm39) I370F probably damaging Het
Setd1a A G 7: 127,396,870 (GRCm39) probably benign Het
Slco2a1 T A 9: 102,951,615 (GRCm39) F381L probably benign Het
Strada A G 11: 106,059,182 (GRCm39) Y199H probably benign Het
Stxbp2 T C 8: 3,682,531 (GRCm39) I40T probably damaging Het
Tbx3 T C 5: 119,816,877 (GRCm39) V358A possibly damaging Het
Tenm3 A G 8: 48,752,674 (GRCm39) L896S probably benign Het
Tmem132a A G 19: 10,835,882 (GRCm39) S883P probably damaging Het
Trio A G 15: 27,818,190 (GRCm39) I496T possibly damaging Het
Unc79 C T 12: 103,078,535 (GRCm39) R1548W probably damaging Het
Unc79 T C 12: 103,078,277 (GRCm39) probably benign Het
Vmn2r9 T C 5: 108,996,067 (GRCm39) M194V possibly damaging Het
Other mutations in Pramel28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Pramel28 APN 4 143,693,184 (GRCm39) splice site probably benign
IGL00688:Pramel28 APN 4 143,692,392 (GRCm39) missense possibly damaging 0.62
IGL00690:Pramel28 APN 4 143,692,392 (GRCm39) missense possibly damaging 0.62
IGL00693:Pramel28 APN 4 143,692,392 (GRCm39) missense possibly damaging 0.62
IGL00694:Pramel28 APN 4 143,692,392 (GRCm39) missense possibly damaging 0.62
IGL01412:Pramel28 APN 4 143,691,565 (GRCm39) missense probably damaging 1.00
IGL01781:Pramel28 APN 4 143,692,299 (GRCm39) missense probably benign
IGL02426:Pramel28 APN 4 143,693,229 (GRCm39) missense possibly damaging 0.75
IGL03338:Pramel28 APN 4 143,692,608 (GRCm39) missense probably benign 0.03
IGL03338:Pramel28 APN 4 143,692,411 (GRCm39) missense probably benign 0.01
R0201:Pramel28 UTSW 4 143,691,460 (GRCm39) missense probably damaging 1.00
R0325:Pramel28 UTSW 4 143,693,310 (GRCm39) missense probably damaging 1.00
R0538:Pramel28 UTSW 4 143,691,653 (GRCm39) missense possibly damaging 0.76
R1471:Pramel28 UTSW 4 143,691,523 (GRCm39) missense probably benign 0.25
R1544:Pramel28 UTSW 4 143,692,632 (GRCm39) missense probably benign 0.00
R1891:Pramel28 UTSW 4 143,693,235 (GRCm39) missense probably damaging 1.00
R2012:Pramel28 UTSW 4 143,692,637 (GRCm39) missense probably benign 0.00
R2105:Pramel28 UTSW 4 143,692,390 (GRCm39) missense probably benign
R2939:Pramel28 UTSW 4 143,693,247 (GRCm39) missense probably benign 0.00
R2940:Pramel28 UTSW 4 143,693,247 (GRCm39) missense probably benign 0.00
R3723:Pramel28 UTSW 4 143,693,251 (GRCm39) missense probably benign
R3952:Pramel28 UTSW 4 143,692,356 (GRCm39) nonsense probably null
R4028:Pramel28 UTSW 4 143,692,354 (GRCm39) missense probably benign 0.02
R4029:Pramel28 UTSW 4 143,692,354 (GRCm39) missense probably benign 0.02
R4030:Pramel28 UTSW 4 143,692,354 (GRCm39) missense probably benign 0.02
R5059:Pramel28 UTSW 4 143,691,565 (GRCm39) missense probably damaging 0.99
R5222:Pramel28 UTSW 4 143,691,362 (GRCm39) missense possibly damaging 0.55
R5591:Pramel28 UTSW 4 143,691,530 (GRCm39) missense probably damaging 1.00
R5677:Pramel28 UTSW 4 143,691,708 (GRCm39) missense possibly damaging 0.59
R6021:Pramel28 UTSW 4 143,692,336 (GRCm39) missense probably benign
R6042:Pramel28 UTSW 4 143,692,631 (GRCm39) missense probably benign 0.04
R6155:Pramel28 UTSW 4 143,691,712 (GRCm39) missense probably benign 0.00
R6604:Pramel28 UTSW 4 143,692,567 (GRCm39) missense probably benign 0.02
R6807:Pramel28 UTSW 4 143,691,581 (GRCm39) missense probably damaging 1.00
R7244:Pramel28 UTSW 4 143,692,455 (GRCm39) missense probably benign
R7505:Pramel28 UTSW 4 143,691,556 (GRCm39) missense probably benign 0.00
R7526:Pramel28 UTSW 4 143,692,387 (GRCm39) missense probably benign 0.00
R8121:Pramel28 UTSW 4 143,691,611 (GRCm39) missense probably benign 0.01
R8408:Pramel28 UTSW 4 143,692,212 (GRCm39) missense probably benign
R8890:Pramel28 UTSW 4 143,691,494 (GRCm39) missense probably benign 0.10
R8989:Pramel28 UTSW 4 143,691,770 (GRCm39) missense probably benign 0.04
R9054:Pramel28 UTSW 4 143,692,314 (GRCm39) missense probably benign 0.18
R9622:Pramel28 UTSW 4 143,692,348 (GRCm39) missense probably benign 0.00
Z1088:Pramel28 UTSW 4 143,692,132 (GRCm39) missense probably benign
Z1177:Pramel28 UTSW 4 143,692,345 (GRCm39) missense probably benign 0.02
Z1177:Pramel28 UTSW 4 143,692,161 (GRCm39) missense probably benign 0.42
Posted On 2015-04-16