Incidental Mutation 'R7216:Pramel27'
ID 561447
Institutional Source Beutler Lab
Gene Symbol Pramel27
Ensembl Gene ENSMUSG00000029451
Gene Name PRAME like 27
Synonyms Gm13103
MMRRC Submission 045288-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R7216 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 143573067-143580207 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 143578399 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 220 (I220V)
Ref Sequence ENSEMBL: ENSMUSP00000092099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094522] [ENSMUST00000105768] [ENSMUST00000139747]
AlphaFold Q4VAD2
Predicted Effect probably damaging
Transcript: ENSMUST00000094522
AA Change: I220V

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000092099
Gene: ENSMUSG00000029451
AA Change: I220V

DomainStartEndE-ValueType
low complexity region 403 413 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105768
Predicted Effect probably benign
Transcript: ENSMUST00000139747
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 T A 12: 53,187,240 (GRCm39) N1551K probably benign Het
Amy2a1 T C 3: 113,324,090 (GRCm39) D150G possibly damaging Het
Atp2b1 T A 10: 98,822,839 (GRCm39) C165S probably benign Het
Atp2c1 A T 9: 105,344,930 (GRCm39) D102E probably benign Het
Capn8 C A 1: 182,426,363 (GRCm39) R233S possibly damaging Het
Cd48 T C 1: 171,523,390 (GRCm39) S78P probably damaging Het
Clasp1 T A 1: 118,475,648 (GRCm39) D944E probably benign Het
Clip2 A G 5: 134,531,771 (GRCm39) M678T probably benign Het
Clmp T C 9: 40,672,205 (GRCm39) Y12H possibly damaging Het
Col22a1 A T 15: 71,845,694 (GRCm39) V356D probably damaging Het
Copg2 A T 6: 30,862,535 (GRCm39) D101E probably damaging Het
Cpsf6 G A 10: 117,197,928 (GRCm39) P229S unknown Het
Dgke T C 11: 88,941,163 (GRCm39) D340G probably benign Het
Dlg1 TAAA TAA 16: 31,615,736 (GRCm39) probably null Het
Dlg5 G A 14: 24,186,706 (GRCm39) Q1865* probably null Het
Dnajc2 C T 5: 21,981,777 (GRCm39) R123Q probably damaging Het
Efcab3 A T 11: 104,771,375 (GRCm39) K2633N possibly damaging Het
Egln2 T C 7: 26,859,254 (GRCm39) D365G probably damaging Het
Epha4 T C 1: 77,421,621 (GRCm39) D287G probably damaging Het
Fat4 A G 3: 38,945,192 (GRCm39) T1362A probably damaging Het
Flt4 A G 11: 49,525,508 (GRCm39) T685A possibly damaging Het
Fras1 T C 5: 96,887,173 (GRCm39) Y2652H probably damaging Het
Gas2 A G 7: 51,547,005 (GRCm39) E52G possibly damaging Het
Gm5093 A T 17: 46,751,014 (GRCm39) D4E not run Het
Gm6370 A T 5: 146,430,723 (GRCm39) T303S probably benign Het
Gpr161 A G 1: 165,134,115 (GRCm39) I126V probably benign Het
Gpr63 T C 4: 25,008,038 (GRCm39) L254P probably damaging Het
H2-M9 C T 17: 36,951,594 (GRCm39) V294I probably benign Het
Insr T A 8: 3,253,034 (GRCm39) N375I possibly damaging Het
Ints1 T C 5: 139,754,739 (GRCm39) N600S possibly damaging Het
Ints10 A G 8: 69,274,809 (GRCm39) N628S probably damaging Het
Irf2 A G 8: 47,246,591 (GRCm39) T20A probably benign Het
Irs1 T A 1: 82,267,476 (GRCm39) T247S probably damaging Het
Islr C T 9: 58,064,250 (GRCm39) S419N unknown Het
Kcna2 T A 3: 107,012,109 (GRCm39) I230N probably damaging Het
Kif3c C A 12: 3,416,126 (GRCm39) A49E probably benign Het
Kifap3 A T 1: 163,623,558 (GRCm39) K108N probably damaging Het
Lama3 T A 18: 12,563,057 (GRCm39) F527I probably damaging Het
Layn A G 9: 50,988,352 (GRCm39) probably benign Het
Lims2 G T 18: 32,090,315 (GRCm39) W276L probably damaging Het
Lsp1 T C 7: 142,042,179 (GRCm39) L133S probably damaging Het
Map3k6 T G 4: 132,974,211 (GRCm39) V536G probably damaging Het
Med7 T A 11: 46,331,681 (GRCm39) L92H probably damaging Het
Mllt1 A G 17: 57,234,042 (GRCm39) V48A probably damaging Het
Mtcl2 T C 2: 156,860,290 (GRCm39) R1650G possibly damaging Het
Neurl4 T A 11: 69,801,088 (GRCm39) V1153E probably damaging Het
Nkx2-1 A C 12: 56,581,587 (GRCm39) C87G probably damaging Het
Nsun7 T C 5: 66,436,000 (GRCm39) S291P probably damaging Het
Or10n1 A T 9: 39,525,790 (GRCm39) Q309L probably benign Het
Or13a18 A T 7: 140,190,373 (GRCm39) N90I possibly damaging Het
Or1p1c A T 11: 74,160,550 (GRCm39) I112F probably damaging Het
Or4e1 G A 14: 52,700,945 (GRCm39) P174S probably damaging Het
Or7g17 T A 9: 18,768,632 (GRCm39) M237K probably benign Het
Pals1 G A 12: 78,844,006 (GRCm39) R70H probably damaging Het
Pbrm1 A G 14: 30,767,379 (GRCm39) Y331C possibly damaging Het
Pirb T A 7: 3,719,273 (GRCm39) T539S probably benign Het
Plch2 T G 4: 155,068,685 (GRCm39) T1314P probably benign Het
Polk T C 13: 96,644,728 (GRCm39) S133G probably benign Het
Prdm5 A T 6: 65,904,967 (GRCm39) K533* probably null Het
Prmt1 T A 7: 44,632,997 (GRCm39) Q35H probably benign Het
Pum3 A T 19: 27,401,625 (GRCm39) W142R probably damaging Het
Rest G A 5: 77,430,455 (GRCm39) R958H probably benign Het
Rictor C T 15: 6,798,782 (GRCm39) T343M probably damaging Het
Ripor2 G A 13: 24,855,886 (GRCm39) G109R probably damaging Het
Sec62 C T 3: 30,872,978 (GRCm39) Q354* probably null Het
Snx14 T C 9: 88,263,844 (GRCm39) Y847C probably damaging Het
Sox7 A T 14: 64,185,438 (GRCm39) D158V probably benign Het
Spag8 A G 4: 43,652,034 (GRCm39) V350A possibly damaging Het
Syngr1 A T 15: 79,995,934 (GRCm39) I158F probably damaging Het
Tacstd2 C A 6: 67,511,979 (GRCm39) V238L probably benign Het
Tex15 T C 8: 34,063,014 (GRCm39) S815P possibly damaging Het
Tmem117 A T 15: 94,612,793 (GRCm39) T110S possibly damaging Het
Tnrc6a T C 7: 122,770,718 (GRCm39) I836T probably benign Het
Trim30b C A 7: 104,006,569 (GRCm39) V96L probably benign Het
Tssk3 TGCTATCATGGGG TG 4: 129,383,106 (GRCm39) probably null Het
Tyk2 G T 9: 21,031,822 (GRCm39) H418N probably benign Het
Uap1 G T 1: 169,986,472 (GRCm39) T170K probably damaging Het
Vmn1r40 T C 6: 89,691,606 (GRCm39) V141A not run Het
Vmn1r54 T A 6: 90,246,647 (GRCm39) I187K probably damaging Het
Vmp1 C T 11: 86,492,859 (GRCm39) V317M probably damaging Het
Wnt8b A G 19: 44,500,511 (GRCm39) K366R probably benign Het
Zfp207 C T 11: 80,286,004 (GRCm39) P415L unknown Het
Zfp263 A G 16: 3,562,435 (GRCm39) E66G probably damaging Het
Zfp764l1 A G 7: 126,990,695 (GRCm39) S431P probably benign Het
Zfp985 T A 4: 147,667,913 (GRCm39) H260Q probably damaging Het
Zmiz1 GCC GC 14: 25,576,624 (GRCm39) probably null Het
Zmiz1 A G 14: 25,576,633 (GRCm39) R47G probably damaging Het
Zmiz1 A C 14: 25,576,631 (GRCm39) Q46P probably 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
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
R8192:Pramel27 UTSW 4 143,578,109 (GRCm39) nonsense probably null
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'- GCCTGGATCCCATGAAGTTG -3'
(R):5'- GCTGAGAAACCAATGTGATCATTC -3'

Sequencing Primer
(F):5'- GGATCCCATGAAGTTGAAGGTTTATC -3'
(R):5'- ACCAATGTGATCATTCTTTCCTCAAG -3'
Posted On 2019-06-26