Incidental Mutation 'R5059:Pramel28'
ID 386506
Institutional Source Beutler Lab
Gene Symbol Pramel28
Ensembl Gene ENSMUSG00000078510
Gene Name PRAME like 28
Synonyms Gm13101
MMRRC Submission 042649-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R5059 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 143691088-143693520 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 143691565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 386 (V386A)
Ref Sequence ENSEMBL: ENSMUSP00000101389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105763]
AlphaFold A2ASJ0
Predicted Effect probably damaging
Transcript: ENSMUST00000105763
AA Change: V386A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101389
Gene: ENSMUSG00000078510
AA Change: V386A

DomainStartEndE-ValueType
SCOP:d1a4ya_ 210 414 2e-9 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b T A 8: 43,973,637 (GRCm39) N455I probably damaging Het
Alg12 A G 15: 88,695,659 (GRCm39) F279S probably damaging Het
Angpt4 A G 2: 151,776,360 (GRCm39) D296G probably damaging Het
Ank1 T A 8: 23,586,204 (GRCm39) S437T probably damaging Het
Apol7a G A 15: 77,274,012 (GRCm39) probably benign Het
Arhgef38 T A 3: 132,843,175 (GRCm39) Y465F probably damaging Het
Atp8a2 T G 14: 59,928,986 (GRCm39) T1023P probably benign Het
Cdh20 C A 1: 109,993,430 (GRCm39) A295E probably damaging Het
Cela3b T C 4: 137,152,181 (GRCm39) E92G probably benign Het
Cntnap5a T C 1: 116,356,224 (GRCm39) S752P probably benign Het
Dlx2 T C 2: 71,376,585 (GRCm39) H51R probably damaging Het
Dnm2 T C 9: 21,415,874 (GRCm39) I736T probably damaging Het
Dst A G 1: 34,202,427 (GRCm39) T252A possibly damaging Het
Fbxo40 T C 16: 36,790,658 (GRCm39) R151G possibly damaging Het
Gapdhs C T 7: 30,431,410 (GRCm39) A357T probably benign Het
Gon4l T A 3: 88,807,319 (GRCm39) M1671K probably benign Het
Gpi1 T C 7: 33,907,113 (GRCm39) Y327C probably damaging Het
Gucy2g T C 19: 55,214,503 (GRCm39) R542G probably benign Het
Hectd3 A G 4: 116,854,361 (GRCm39) K308E possibly damaging Het
Hip1 A G 5: 135,478,675 (GRCm39) F178S probably damaging Het
Hydin A G 8: 111,232,401 (GRCm39) D1640G probably damaging Het
Il18r1 G A 1: 40,520,227 (GRCm39) probably null Het
Kdm3b T C 18: 34,910,250 (GRCm39) S23P possibly damaging Het
Lactb T C 9: 66,882,426 (GRCm39) E83G probably benign Het
Larp4 A T 15: 99,903,171 (GRCm39) D414V probably damaging Het
Map2k5 T C 9: 63,164,296 (GRCm39) H336R probably benign Het
Mast4 T C 13: 102,887,071 (GRCm39) E1006G probably damaging Het
Mbd5 T C 2: 49,146,467 (GRCm39) S226P probably damaging Het
Micall1 A T 15: 79,007,034 (GRCm39) probably benign Het
Mtpap T A 18: 4,375,827 (GRCm39) probably benign Het
Or52ae7 A T 7: 103,119,488 (GRCm39) K81* probably null Het
Or5p58 A G 7: 107,694,522 (GRCm39) L85P probably damaging Het
Pnrc1 G A 4: 33,246,072 (GRCm39) Q296* probably null Het
Poc1a G T 9: 106,227,012 (GRCm39) probably benign Het
Prkcsh T A 9: 21,924,046 (GRCm39) L439Q probably damaging Het
Prkdc T C 16: 15,655,882 (GRCm39) L3970P probably damaging Het
Ptcd1 G A 5: 145,089,034 (GRCm39) P542L probably benign Het
Rps6ka5 G A 12: 100,520,634 (GRCm39) T631I probably damaging Het
Rxfp1 T C 3: 79,570,619 (GRCm39) N271S probably benign Het
Taf6 A G 5: 138,177,709 (GRCm39) M541T probably benign Het
Tek T A 4: 94,692,551 (GRCm39) C169S probably benign Het
Tgfbr3l T A 8: 4,299,343 (GRCm39) probably null Het
Trpv3 A G 11: 73,186,149 (GRCm39) N647D probably benign Het
Ube3c A G 5: 29,836,293 (GRCm39) K638R probably null Het
Vmn1r191 G A 13: 22,363,163 (GRCm39) A197V probably damaging Het
Vmn2r6 T C 3: 64,445,044 (GRCm39) T894A possibly damaging Het
Vstm4 T G 14: 32,585,687 (GRCm39) Y85D probably damaging Het
Wnt7a A G 6: 91,371,482 (GRCm39) I160T probably benign Het
Zc3h7a TAGAGAG TAGAGAGAG 16: 10,978,985 (GRCm39) probably null Het
Zfp988 A T 4: 147,416,372 (GRCm39) K269* probably null 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
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
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'- TGCCTAACAGTGCAAAGTGTG -3'
(R):5'- TTGCCCAGTGTCAGAGTCTC -3'

Sequencing Primer
(F):5'- CAAAGTGTGTTCATGAGCTCAG -3'
(R):5'- ATCTCAAACACCTGCATTTGG -3'
Posted On 2016-06-06