Incidental Mutation 'R4029:Pramel28'
ID 313125
Institutional Source Beutler Lab
Gene Symbol Pramel28
Ensembl Gene ENSMUSG00000078510
Gene Name PRAME like 28
Synonyms Gm13101
MMRRC Submission 040959-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R4029 (G1)
Quality Score 225
Status 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: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (31/31)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,293,008 (GRCm39) K46R probably benign Het
Ank A G 15: 27,544,343 (GRCm39) N35D probably damaging Het
Atp9a A T 2: 168,531,245 (GRCm39) I174N probably damaging Het
Bfsp1 G A 2: 143,673,749 (GRCm39) probably benign Het
Cenpq T C 17: 41,238,140 (GRCm39) T125A probably damaging Het
Dcun1d4 A G 5: 73,691,980 (GRCm39) D89G probably damaging Het
Dip2b A G 15: 100,084,053 (GRCm39) Y892C probably damaging Het
Dmrt2 T G 19: 25,655,498 (GRCm39) S366A probably damaging Het
Exoc7 C T 11: 116,197,814 (GRCm39) probably benign Het
Gabra4 G T 5: 71,729,532 (GRCm39) T390K probably benign Het
Gpr68 A G 12: 100,845,475 (GRCm39) L23P probably damaging Het
Krt17 T A 11: 100,148,349 (GRCm39) N364I probably damaging Het
Lefty1 T C 1: 180,765,346 (GRCm39) S305P probably benign Het
Ly6g6d T A 17: 35,290,636 (GRCm39) Q98L probably benign Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Nck2 T C 1: 43,593,251 (GRCm39) F153L probably benign Het
Niban1 G A 1: 151,571,441 (GRCm39) V239I probably benign Het
Nme4 T C 17: 26,313,196 (GRCm39) probably null Het
Nup35 A G 2: 80,483,318 (GRCm39) D172G probably benign 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
Phlpp1 T A 1: 106,320,279 (GRCm39) S1425T probably damaging Het
Pkd1l3 T A 8: 110,350,603 (GRCm39) S483T possibly damaging Het
Pld2 A G 11: 70,445,731 (GRCm39) N655S probably damaging Het
Psmd2 G A 16: 20,481,955 (GRCm39) G896D 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
Ston2 T C 12: 91,615,037 (GRCm39) Q457R possibly damaging Het
Syt10 T C 15: 89,698,741 (GRCm39) E201G probably benign Het
Ube4a G A 9: 44,861,198 (GRCm39) probably benign Het
Wdr49 C A 3: 75,230,972 (GRCm39) L563F probably benign 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
R4028: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