Incidental Mutation 'R4028:Pramel28'
ID 313083
Institutional Source Beutler Lab
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 # R4028 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 143691088-143693520 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 143692354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 216 (T216S)
Ref Sequence ENSEMBL: ENSMUSP00000101389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105763]
AlphaFold A2ASJ0
Predicted Effect probably benign
Transcript: ENSMUST00000105763
AA Change: T216S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000101389
Gene: ENSMUSG00000078510
AA Change: T216S

DomainStartEndE-ValueType
SCOP:d1a4ya_ 210 414 2e-9 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 A T 7: 133,531,725 (GRCm39) N503K probably damaging Het
Anapc2 T A 2: 25,167,750 (GRCm39) I439N probably damaging Het
Ank A G 15: 27,544,343 (GRCm39) N35D probably damaging Het
Birc2 T C 9: 7,819,352 (GRCm39) N520S probably benign Het
C030005K15Rik T C 10: 97,561,404 (GRCm39) Y109C unknown Het
Chrna5 T C 9: 54,905,370 (GRCm39) W61R probably damaging Het
Clec1b G A 6: 129,378,774 (GRCm39) R87H probably benign Het
Cox7a2l A G 17: 83,810,069 (GRCm39) I123T probably benign Het
Cyp2j5 A T 4: 96,529,653 (GRCm39) Y239* probably null Het
Dnajc6 G A 4: 101,474,054 (GRCm39) C485Y probably damaging Het
Dync1i1 C T 6: 5,961,842 (GRCm39) S341F probably damaging Het
Fbln1 A G 15: 85,111,317 (GRCm39) N157S probably benign Het
Get1 T C 16: 95,946,784 (GRCm39) probably null Het
Gpatch2 A G 1: 186,958,337 (GRCm39) S231G possibly damaging Het
Grin2b T C 6: 135,713,433 (GRCm39) D816G probably damaging Het
Kndc1 T A 7: 139,509,941 (GRCm39) F1261Y probably damaging Het
Lefty1 T C 1: 180,765,346 (GRCm39) S305P probably benign Het
Ltbp3 G A 19: 5,804,050 (GRCm39) R854Q probably benign Het
Mrc1 T C 2: 14,243,059 (GRCm39) S62P probably damaging Het
Ntrk3 T C 7: 77,842,458 (GRCm39) E790G probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Oog4 A T 4: 143,166,770 (GRCm39) N11K probably benign Het
Or4c3 T C 2: 89,851,567 (GRCm39) N281S probably damaging Het
Or52k2 A T 7: 102,254,500 (GRCm39) D313V possibly damaging Het
Pibf1 A G 14: 99,416,777 (GRCm39) E450G probably damaging Het
Pkd1l3 T A 8: 110,350,603 (GRCm39) S483T possibly damaging Het
Pkdrej A T 15: 85,701,693 (GRCm39) N1414K probably benign Het
Pld2 A G 11: 70,445,731 (GRCm39) N655S probably damaging Het
Rcn1 G T 2: 105,229,395 (GRCm39) Y52* probably null Het
Reck T C 4: 43,922,931 (GRCm39) I402T probably damaging Het
Shisal2a G T 4: 108,240,412 (GRCm39) C43* probably null Het
Slc28a3 T C 13: 58,758,570 (GRCm39) S18G probably benign Het
Slc7a1 C A 5: 148,282,622 (GRCm39) C75F probably benign Het
Snrnp200 A G 2: 127,079,486 (GRCm39) D1865G probably damaging Het
Tnrc6a T A 7: 122,769,344 (GRCm39) I378N probably damaging Het
Trim3 A G 7: 105,267,452 (GRCm39) V309A probably benign Het
Tshz1 T C 18: 84,032,954 (GRCm39) K485E possibly damaging Het
Zdhhc11 T C 13: 74,125,390 (GRCm39) L210P probably 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
IGL02508:Pramel28 APN 4 143,691,590 (GRCm39) missense probably benign 0.13
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
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
Predicted Primers PCR Primer
(F):5'- CGAGATGCTGGAGACTGTTG -3'
(R):5'- CTAAGGAGACGTTTAAAGGTGGTC -3'

Sequencing Primer
(F):5'- AGACTGTTGAGTTTGGGGAAC -3'
(R):5'- ACGTTTAAAGGTGGTCACTGAC -3'
Posted On 2015-04-30