Incidental Mutation 'R8192:Pramel27'
ID 635209
Institutional Source Beutler Lab
Gene Symbol Pramel27
Ensembl Gene ENSMUSG00000029451
Gene Name PRAME like 27
Synonyms Gm13103
MMRRC Submission 067615-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R8192 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 143573067-143580207 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 143578109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 123 (W123*)
Ref Sequence ENSEMBL: ENSMUSP00000092099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094522] [ENSMUST00000105768] [ENSMUST00000139747]
AlphaFold Q4VAD2
Predicted Effect probably null
Transcript: ENSMUST00000094522
AA Change: W123*
SMART Domains Protein: ENSMUSP00000092099
Gene: ENSMUSG00000029451
AA Change: W123*

DomainStartEndE-ValueType
low complexity region 403 413 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000105768
AA Change: W123*
Predicted Effect probably null
Transcript: ENSMUST00000139747
AA Change: W72*
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A T 8: 44,103,970 (GRCm39) D558E probably damaging Het
Alox15 T A 11: 70,241,736 (GRCm39) E48D probably benign Het
Alyref T C 11: 120,488,522 (GRCm39) E102G probably benign Het
Bach2 A G 4: 32,562,294 (GRCm39) S254G probably benign Het
Bcl2l13 A G 6: 120,853,267 (GRCm39) E184G possibly damaging Het
Best1 T A 19: 9,963,664 (GRCm39) I506F possibly damaging Het
Cd177 T A 7: 24,453,727 (GRCm39) D388V probably benign Het
Cep350 T C 1: 155,816,529 (GRCm39) K329E possibly damaging Het
Clasrp T C 7: 19,329,387 (GRCm39) N65S possibly damaging Het
Cobl T C 11: 12,199,745 (GRCm39) R1301G probably benign Het
Cul9 T C 17: 46,849,273 (GRCm39) E624G probably benign Het
Cyp21a1 A T 17: 35,022,633 (GRCm39) Y109N probably damaging Het
Dbf4 A G 5: 8,448,134 (GRCm39) S359P probably benign Het
Ddx60 A G 8: 62,431,002 (GRCm39) T846A probably damaging Het
Dnah11 A G 12: 117,976,181 (GRCm39) V2746A probably benign Het
Dnah12 G A 14: 26,428,036 (GRCm39) A221T probably benign Het
Dnajb8 C T 6: 88,199,940 (GRCm39) R159C possibly damaging Het
Dock2 A G 11: 34,623,166 (GRCm39) probably null Het
Dpy19l1 T C 9: 24,362,023 (GRCm39) I119V possibly damaging Het
Dsg1c A G 18: 20,399,255 (GRCm39) T120A probably damaging Het
Dzank1 T C 2: 144,332,145 (GRCm39) H397R probably benign Het
Gaa G T 11: 119,161,235 (GRCm39) A93S possibly damaging Het
Galnt4 G A 10: 98,945,118 (GRCm39) R281H probably benign Het
Gm3250 T C 10: 77,618,291 (GRCm39) E29G unknown Het
H13 T G 2: 152,511,522 (GRCm39) D7E probably benign Het
H60c T A 10: 3,209,781 (GRCm39) I140F probably benign Het
Hsd3b2 T C 3: 98,620,908 (GRCm39) N49S probably benign Het
Klhl11 G T 11: 100,354,922 (GRCm39) P300T probably benign Het
Knop1 C A 7: 118,452,369 (GRCm39) V117L Het
Lgalsl2 T A 7: 5,362,595 (GRCm39) D75E possibly damaging Het
Lrrc38 G A 4: 143,077,303 (GRCm39) G189R probably damaging Het
Lrrc9 A T 12: 72,496,163 (GRCm39) I13F probably damaging Het
Macf1 A G 4: 123,334,390 (GRCm39) S4456P probably damaging Het
Mkrn1 A T 6: 39,376,289 (GRCm39) V439D probably damaging Het
Muc2 T A 7: 141,305,215 (GRCm39) V612D Het
Nrxn3 A G 12: 90,171,569 (GRCm39) N967D probably benign Het
Oprm1 C T 10: 6,788,417 (GRCm39) P391S probably benign Het
Or10g7 T A 9: 39,905,467 (GRCm39) D120E probably damaging Het
Or5d43 A C 2: 88,105,288 (GRCm39) V35G probably damaging Het
Parp14 T A 16: 35,691,584 (GRCm39) E47V probably benign Het
Pikfyve A G 1: 65,285,554 (GRCm39) E931G possibly damaging Het
Plcz1 A T 6: 139,968,986 (GRCm39) C151S probably damaging Het
Pramel20 T G 4: 143,298,530 (GRCm39) Y158D probably benign Het
Rbm26 A G 14: 105,380,125 (GRCm39) probably null Het
Rffl G T 11: 82,703,549 (GRCm39) probably null Het
Sc5d T C 9: 42,171,094 (GRCm39) I32V probably benign Het
Scube1 A G 15: 83,513,583 (GRCm39) probably null Het
Shld2 A T 14: 33,967,173 (GRCm39) S680T probably benign Het
Slc12a6 A G 2: 112,181,722 (GRCm39) Y714C probably damaging Het
Slc26a3 A G 12: 31,518,541 (GRCm39) I670V probably benign Het
Slc8a3 A T 12: 81,246,455 (GRCm39) V866D probably damaging Het
Slco3a1 A T 7: 73,970,338 (GRCm39) M423K probably benign Het
Smc6 A G 12: 11,349,336 (GRCm39) E773G probably benign Het
Son A G 16: 91,452,437 (GRCm39) T395A possibly damaging Het
Ss18l1 T C 2: 179,701,155 (GRCm39) S290P probably damaging Het
Tcof1 A C 18: 60,976,375 (GRCm39) V78G probably damaging Het
Thsd1 G A 8: 22,733,918 (GRCm39) V322M probably benign Het
Tln2 A T 9: 67,253,811 (GRCm39) C753* probably null Het
Trav6n-6 T A 14: 53,370,497 (GRCm39) F83I probably damaging Het
Ttc39d A G 17: 80,524,007 (GRCm39) H222R probably damaging Het
Ugt2b35 T A 5: 87,149,302 (GRCm39) S184R probably damaging Het
Upf1 A G 8: 70,793,294 (GRCm39) L288P probably benign Het
Zfp442 T C 2: 150,250,629 (GRCm39) I424M unknown Het
Zfp580 T C 7: 5,056,114 (GRCm39) V100A probably benign Het
Zfpm1 C A 8: 123,058,833 (GRCm39) P151Q probably damaging Het
Zfr2 C T 10: 81,078,649 (GRCm39) P294S possibly damaging Het
Other mutations in Pramel27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01363:Pramel27 APN 4 143,579,846 (GRCm39) missense probably benign 0.01
IGL01383:Pramel27 APN 4 143,573,102 (GRCm39) utr 5 prime probably benign
IGL01735:Pramel27 APN 4 143,578,401 (GRCm39) missense probably damaging 1.00
IGL01976:Pramel27 APN 4 143,579,363 (GRCm39) missense probably benign 0.17
IGL03096:Pramel27 APN 4 143,577,485 (GRCm39) missense probably benign 0.01
IGL03280:Pramel27 APN 4 143,578,489 (GRCm39) missense possibly damaging 0.74
IGL03295:Pramel27 APN 4 143,579,759 (GRCm39) missense probably damaging 1.00
FR4342:Pramel27 UTSW 4 143,578,213 (GRCm39) frame shift probably null
PIT4687001:Pramel27 UTSW 4 143,573,103 (GRCm39) start gained probably benign
R0218:Pramel27 UTSW 4 143,578,401 (GRCm39) missense probably damaging 1.00
R0612:Pramel27 UTSW 4 143,578,658 (GRCm39) unclassified probably benign
R1755:Pramel27 UTSW 4 143,577,380 (GRCm39) missense probably damaging 1.00
R2509:Pramel27 UTSW 4 143,578,561 (GRCm39) missense probably benign 0.01
R2510:Pramel27 UTSW 4 143,578,561 (GRCm39) missense probably benign 0.01
R2511:Pramel27 UTSW 4 143,578,561 (GRCm39) missense probably benign 0.01
R4603:Pramel27 UTSW 4 143,579,451 (GRCm39) missense probably benign 0.01
R4694:Pramel27 UTSW 4 143,579,530 (GRCm39) missense probably damaging 0.97
R4856:Pramel27 UTSW 4 143,579,873 (GRCm39) missense probably benign 0.00
R4886:Pramel27 UTSW 4 143,579,873 (GRCm39) missense probably benign 0.00
R4927:Pramel27 UTSW 4 143,578,187 (GRCm39) missense probably damaging 1.00
R5168:Pramel27 UTSW 4 143,579,768 (GRCm39) missense probably benign 0.02
R5270:Pramel27 UTSW 4 143,578,468 (GRCm39) missense probably damaging 0.97
R5402:Pramel27 UTSW 4 143,578,225 (GRCm39) critical splice donor site probably null
R5618:Pramel27 UTSW 4 143,577,263 (GRCm39) missense possibly damaging 0.92
R6078:Pramel27 UTSW 4 143,578,155 (GRCm39) missense possibly damaging 0.58
R6138:Pramel27 UTSW 4 143,578,155 (GRCm39) missense possibly damaging 0.58
R6362:Pramel27 UTSW 4 143,579,435 (GRCm39) missense probably damaging 0.99
R6526:Pramel27 UTSW 4 143,579,384 (GRCm39) missense probably damaging 1.00
R6555:Pramel27 UTSW 4 143,578,140 (GRCm39) missense possibly damaging 0.58
R6595:Pramel27 UTSW 4 143,579,326 (GRCm39) missense probably damaging 1.00
R6675:Pramel27 UTSW 4 143,579,828 (GRCm39) missense probably damaging 0.98
R7216:Pramel27 UTSW 4 143,578,399 (GRCm39) missense probably damaging 0.96
R7282:Pramel27 UTSW 4 143,578,451 (GRCm39) missense possibly damaging 0.85
R7424:Pramel27 UTSW 4 143,579,779 (GRCm39) missense probably benign 0.01
R7511:Pramel27 UTSW 4 143,573,116 (GRCm39) missense possibly damaging 0.68
R7591:Pramel27 UTSW 4 143,577,481 (GRCm39) missense probably benign 0.01
R7868:Pramel27 UTSW 4 143,578,154 (GRCm39) missense possibly damaging 0.58
R8244:Pramel27 UTSW 4 143,579,854 (GRCm39) missense probably damaging 1.00
R8256:Pramel27 UTSW 4 143,578,255 (GRCm39) missense probably benign 0.05
R8531:Pramel27 UTSW 4 143,579,601 (GRCm39) missense probably benign 0.00
R8540:Pramel27 UTSW 4 143,579,496 (GRCm39) missense probably benign 0.00
R8793:Pramel27 UTSW 4 143,577,627 (GRCm39) intron probably benign
R8880:Pramel27 UTSW 4 143,573,140 (GRCm39) critical splice donor site probably null
R9069:Pramel27 UTSW 4 143,578,345 (GRCm39) missense probably benign 0.00
R9603:Pramel27 UTSW 4 143,578,267 (GRCm39) missense
R9748:Pramel27 UTSW 4 143,579,892 (GRCm39) makesense probably null
R9797:Pramel27 UTSW 4 143,579,818 (GRCm39) missense possibly damaging 0.79
U15987:Pramel27 UTSW 4 143,578,155 (GRCm39) missense possibly damaging 0.58
Z1176:Pramel27 UTSW 4 143,579,680 (GRCm39) missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- AGGATTAAAGATGCCCCTCTTG -3'
(R):5'- GGTCCACTCCAACAAGTATGTG -3'

Sequencing Primer
(F):5'- GGATTAAAGATGCCCCTCTTGCAAAG -3'
(R):5'- GTGTCAGATTCATTAAGTCTGCC -3'
Posted On 2020-07-13