Incidental Mutation 'R5441:Pramel34'
ID 427169
Institutional Source Beutler Lab
Gene Symbol Pramel34
Ensembl Gene ENSMUSG00000070686
Gene Name PRAME like 34
Synonyms C87414
MMRRC Submission 043006-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R5441 (G1)
Quality Score 104
Status Not validated
Chromosome 5
Chromosomal Location 93783041-93819368 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 93784456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 139 (M139K)
Ref Sequence ENSEMBL: ENSMUSP00000075662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076321] [ENSMUST00000159578] [ENSMUST00000160382] [ENSMUST00000162964]
AlphaFold E9PWI7
Predicted Effect possibly damaging
Transcript: ENSMUST00000076321
AA Change: M139K

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000075662
Gene: ENSMUSG00000070686
AA Change: M139K

DomainStartEndE-ValueType
SCOP:d1a4ya_ 67 191 1e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159578
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159691
Predicted Effect probably benign
Transcript: ENSMUST00000160382
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161919
Predicted Effect probably benign
Transcript: ENSMUST00000162964
AA Change: M336K

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124780
Gene: ENSMUSG00000070686
AA Change: M336K

DomainStartEndE-ValueType
SCOP:d1a4ya_ 199 388 1e-9 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 98% (56/57)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,334,215 (GRCm39) Y1096H probably damaging Het
Aspa A T 11: 73,196,420 (GRCm39) F261I probably damaging Het
Atm C A 9: 53,427,767 (GRCm39) G448* probably null Het
Atmin T A 8: 117,684,696 (GRCm39) D785E probably damaging Het
Car1 G C 3: 14,841,364 (GRCm39) R90G probably damaging Het
Cdh11 T C 8: 103,374,178 (GRCm39) D520G probably benign Het
Cers5 T A 15: 99,649,119 (GRCm39) K50* probably null Het
Chad A T 11: 94,459,118 (GRCm39) D340V probably benign Het
Cspg5 T C 9: 110,075,711 (GRCm39) I68T probably benign Het
Fcgbpl1 C T 7: 27,856,339 (GRCm39) T2042M probably damaging Het
Fcrla T A 1: 170,752,991 (GRCm39) probably benign Het
Fer1l4 T A 2: 155,865,177 (GRCm39) D1608V probably benign Het
Fzd5 T A 1: 64,774,576 (GRCm39) Q395L probably benign Het
Gm7664 T A 13: 62,676,464 (GRCm39) probably benign Het
Hk3 T C 13: 55,162,869 (GRCm39) E2G probably damaging Het
Hmcn2 G A 2: 31,296,428 (GRCm39) E2677K possibly damaging Het
Hydin T C 8: 111,291,741 (GRCm39) L3411P possibly damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Lysmd2 C T 9: 75,533,254 (GRCm39) H70Y possibly damaging Het
Msi2 A G 11: 88,370,818 (GRCm39) probably benign Het
Msi2 G A 11: 88,608,921 (GRCm39) probably benign Het
Napsa T A 7: 44,230,817 (GRCm39) probably benign Het
Nlrp4a T A 7: 26,153,578 (GRCm39) L710M probably damaging Het
Or10g1 T A 14: 52,647,414 (GRCm39) K305M probably benign Het
Or12d13 T C 17: 37,647,159 (GRCm39) probably null Het
Or5m13 T A 2: 85,748,934 (GRCm39) F222I probably benign Het
Or6ae1 T C 7: 139,742,564 (GRCm39) T100A probably benign Het
Or9a2 C T 6: 41,748,782 (GRCm39) M150I probably benign Het
Plbd2 T A 5: 120,637,147 (GRCm39) Y105F probably benign Het
Plppr5 A T 3: 117,456,120 (GRCm39) I214F possibly damaging Het
Ptcd3 A G 6: 71,858,505 (GRCm39) V655A possibly damaging Het
Ptpn14 T C 1: 189,530,767 (GRCm39) L78P probably damaging Het
Ralgapa1 A C 12: 55,766,408 (GRCm39) D1295E probably damaging Het
Rnf213 G A 11: 119,299,846 (GRCm39) D192N probably damaging Het
Ropn1 A G 16: 34,487,167 (GRCm39) I34M probably damaging Het
Rpe65 G T 3: 159,310,038 (GRCm39) G104C probably damaging Het
Scgb2b27 T C 7: 33,712,582 (GRCm39) probably benign Het
Sh3bgr T C 16: 96,007,117 (GRCm39) I29T possibly damaging Het
Smg1 T C 7: 117,794,304 (GRCm39) probably benign Het
Stim2 T A 5: 54,232,712 (GRCm39) C68* probably null Het
Syne2 G A 12: 76,035,917 (GRCm39) V3736I possibly damaging Het
Tbx19 T C 1: 164,981,249 (GRCm39) N82D probably damaging Het
Tdp1 T A 12: 99,876,544 (GRCm39) V353D probably damaging Het
Tg T A 15: 66,568,369 (GRCm39) I1352K possibly damaging Het
Thsd4 T C 9: 59,887,066 (GRCm39) T919A probably damaging Het
Tmprss11f A T 5: 86,676,062 (GRCm39) M373K probably damaging Het
Tmprss15 T A 16: 78,868,335 (GRCm39) probably null Het
Tpd52 A T 3: 9,068,466 (GRCm39) Y16* probably null Het
Ube2o G A 11: 116,435,268 (GRCm39) R507C probably damaging Het
Unc93b1 T C 19: 3,993,703 (GRCm39) F382L probably benign Het
Vav2 A T 2: 27,160,122 (GRCm39) probably benign Het
Vmn1r207 T C 13: 22,910,686 (GRCm39) noncoding transcript Het
Zan T A 5: 137,435,013 (GRCm39) I2127F unknown Het
Zfp748 C A 13: 67,688,737 (GRCm39) C841F probably damaging Het
Zic4 C A 9: 91,266,253 (GRCm39) P299Q probably damaging Het
Other mutations in Pramel34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Pramel34 APN 5 93,784,336 (GRCm39) missense probably damaging 1.00
IGL01642:Pramel34 APN 5 93,784,154 (GRCm39) missense possibly damaging 0.84
IGL02735:Pramel34 APN 5 93,786,503 (GRCm39) missense possibly damaging 0.94
PIT4466001:Pramel34 UTSW 5 93,784,147 (GRCm39) missense probably damaging 1.00
R1830:Pramel34 UTSW 5 93,785,545 (GRCm39) missense probably benign 0.03
R2071:Pramel34 UTSW 5 93,784,375 (GRCm39) missense probably damaging 1.00
R4404:Pramel34 UTSW 5 93,785,572 (GRCm39) missense possibly damaging 0.81
R4606:Pramel34 UTSW 5 93,784,461 (GRCm39) missense probably damaging 0.96
R4672:Pramel34 UTSW 5 93,784,182 (GRCm39) missense probably damaging 0.99
R5056:Pramel34 UTSW 5 93,786,784 (GRCm39) start gained probably benign
R5118:Pramel34 UTSW 5 93,785,656 (GRCm39) missense probably benign 0.03
R5288:Pramel34 UTSW 5 93,785,607 (GRCm39) missense possibly damaging 0.86
R6190:Pramel34 UTSW 5 93,785,937 (GRCm39) missense probably benign 0.14
R6513:Pramel34 UTSW 5 93,785,391 (GRCm39) splice site probably null
R7464:Pramel34 UTSW 5 93,784,099 (GRCm39) missense probably damaging 1.00
R7941:Pramel34 UTSW 5 93,785,887 (GRCm39) missense probably benign 0.04
R7961:Pramel34 UTSW 5 93,784,543 (GRCm39) missense probably damaging 1.00
R8130:Pramel34 UTSW 5 93,784,597 (GRCm39) missense probably damaging 1.00
R8389:Pramel34 UTSW 5 93,785,587 (GRCm39) missense probably benign 0.10
R8725:Pramel34 UTSW 5 93,784,316 (GRCm39) missense probably damaging 1.00
R8742:Pramel34 UTSW 5 93,785,935 (GRCm39) missense probably damaging 0.96
R8812:Pramel34 UTSW 5 93,785,660 (GRCm39) missense possibly damaging 0.84
R8849:Pramel34 UTSW 5 93,784,197 (GRCm39) missense probably benign 0.01
R8930:Pramel34 UTSW 5 93,785,944 (GRCm39) missense probably benign 0.39
R8932:Pramel34 UTSW 5 93,785,944 (GRCm39) missense probably benign 0.39
R8976:Pramel34 UTSW 5 93,785,977 (GRCm39) missense probably damaging 0.99
R9201:Pramel34 UTSW 5 93,785,937 (GRCm39) missense probably benign 0.14
R9229:Pramel34 UTSW 5 93,784,089 (GRCm39) nonsense probably null
R9287:Pramel34 UTSW 5 93,785,969 (GRCm39) missense possibly damaging 0.77
R9347:Pramel34 UTSW 5 93,786,697 (GRCm39) missense probably damaging 0.96
R9536:Pramel34 UTSW 5 93,784,289 (GRCm39) missense probably damaging 1.00
RF006:Pramel34 UTSW 5 93,784,562 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- TGCTGGAAAAGGGCCTTCAG -3'
(R):5'- GGGCCCCTGGTTTATTCTAC -3'

Sequencing Primer
(F):5'- CTTCAGGGTGCACATGGAG -3'
(R):5'- ACTACTTTTTAGAACTAACCCTCTGG -3'
Posted On 2016-09-01