Incidental Mutation 'R6366:Pramel32'
ID 512679
Institutional Source Beutler Lab
Gene Symbol Pramel32
Ensembl Gene ENSMUSG00000038330
Gene Name PRAME like 32
Synonyms C87499
MMRRC Submission 044516-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.394) question?
Stock # R6366 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 88545557-88552423 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88547102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 106 (I106F)
Ref Sequence ENSEMBL: ENSMUSP00000138546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053304] [ENSMUST00000107142] [ENSMUST00000107143] [ENSMUST00000134155] [ENSMUST00000156062]
AlphaFold Q3UX49
Predicted Effect probably benign
Transcript: ENSMUST00000053304
AA Change: I277F

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000056691
Gene: ENSMUSG00000038330
AA Change: I277F

DomainStartEndE-ValueType
SCOP:d1a4ya_ 223 425 4e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107142
Predicted Effect probably benign
Transcript: ENSMUST00000107143
Predicted Effect probably damaging
Transcript: ENSMUST00000134155
AA Change: I106F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000156062
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.0%
  • 20x: 93.4%
Validation Efficiency
Allele List at MGI

All alleles(3) : Targeted(2) Gene trapped(1)

Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A G 3: 116,584,766 (GRCm39) F185L probably damaging Het
Ank3 A G 10: 69,835,188 (GRCm39) D131G probably damaging Het
Boc T C 16: 44,308,015 (GRCm39) K947E probably benign Het
Ccdc110 A G 8: 46,396,425 (GRCm39) E772G probably damaging Het
Ccdc7a A G 8: 129,582,473 (GRCm39) V1055A unknown Het
Chd1l A G 3: 97,501,476 (GRCm39) V190A probably benign Het
Chl1 C A 6: 103,706,197 (GRCm39) N396K possibly damaging Het
CN725425 T G 15: 91,131,124 (GRCm39) Y420D possibly damaging Het
Col6a1 A T 10: 76,546,804 (GRCm39) I806N unknown Het
Csmd2 A G 4: 128,377,245 (GRCm39) K2042E probably benign Het
Eif4a1 G T 11: 69,561,781 (GRCm39) D15E probably benign Het
Etfb T C 7: 43,102,365 (GRCm39) L119S probably damaging Het
Fbxo42 T A 4: 140,927,260 (GRCm39) S513R probably benign Het
Gys2 C A 6: 142,409,120 (GRCm39) C45F probably benign Het
Hspa1a G A 17: 35,189,500 (GRCm39) P468S probably damaging Het
Kdm2a G T 19: 4,374,960 (GRCm39) Q724K probably benign Het
Lama3 G T 18: 12,615,194 (GRCm39) G1373W probably damaging Het
Lhx1 A T 11: 84,413,034 (GRCm39) F84Y probably damaging Het
Lpxn G A 19: 12,802,163 (GRCm39) V163M probably benign Het
Lrrc7 T C 3: 157,841,012 (GRCm39) Q1389R probably benign Het
Lrtm2 T C 6: 119,294,238 (GRCm39) R298G probably damaging Het
Ltv1 A G 10: 13,056,739 (GRCm39) V268A probably benign Het
Mgat4d T A 8: 84,095,580 (GRCm39) probably null Het
Mknk2 C A 10: 80,507,767 (GRCm39) R33L probably damaging Het
Ms4a1 A G 19: 11,236,062 (GRCm39) S42P probably damaging Het
Muc16 T C 9: 18,557,340 (GRCm39) I2984M unknown Het
Mup12 A C 4: 60,696,657 (GRCm39) F74V probably damaging Het
Nacad A C 11: 6,551,196 (GRCm39) L665R probably benign Het
Pde6a T A 18: 61,398,142 (GRCm39) probably null Het
Plb1 A G 5: 32,471,429 (GRCm39) N579D possibly damaging Het
Podn T A 4: 107,876,001 (GRCm39) I552F possibly damaging Het
Potefam1 A G 2: 110,999,937 (GRCm39) probably null Het
Prl3b1 A T 13: 27,427,875 (GRCm39) M62L probably benign Het
Ptpn13 G T 5: 103,698,919 (GRCm39) R1134L probably damaging Het
Rpl37 T A 15: 5,147,990 (GRCm39) probably null Het
Samd4 T A 14: 47,311,607 (GRCm39) probably null Het
Sh3rf2 T C 18: 42,286,130 (GRCm39) V541A probably benign Het
Shcbp1 A G 8: 4,799,380 (GRCm39) V335A probably damaging Het
Slc7a7 T C 14: 54,612,057 (GRCm39) Y282C probably damaging Het
Spag7 T C 11: 70,555,418 (GRCm39) K125E possibly damaging Het
Spata31e4 T C 13: 50,855,972 (GRCm39) Y537H probably benign Het
Sptan1 T C 2: 29,910,467 (GRCm39) S1831P possibly damaging Het
Stab1 T C 14: 30,863,395 (GRCm39) K2097R probably benign Het
Stk38 A G 17: 29,193,338 (GRCm39) W364R probably benign Het
Tectb G A 19: 55,170,350 (GRCm39) G67D probably damaging Het
Ttll9 G T 2: 152,833,525 (GRCm39) D208Y probably damaging Het
Tyro3 G A 2: 119,647,156 (GRCm39) D758N probably damaging Het
Tyw1 T C 5: 130,310,792 (GRCm39) probably benign Het
Unc5b C T 10: 60,614,091 (GRCm39) A253T probably benign Het
Wtap A T 17: 13,186,945 (GRCm39) probably null Het
Other mutations in Pramel32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Pramel32 APN 4 88,547,307 (GRCm39) missense probably benign 0.43
IGL00229:Pramel32 APN 4 88,547,290 (GRCm39) missense probably damaging 0.99
IGL01938:Pramel32 APN 4 88,547,600 (GRCm39) missense possibly damaging 0.90
IGL02321:Pramel32 APN 4 88,548,340 (GRCm39) missense probably benign 0.33
IGL02351:Pramel32 APN 4 88,546,127 (GRCm39) missense probably damaging 1.00
IGL02358:Pramel32 APN 4 88,546,127 (GRCm39) missense probably damaging 1.00
P0005:Pramel32 UTSW 4 88,546,187 (GRCm39) missense probably damaging 1.00
R0521:Pramel32 UTSW 4 88,547,559 (GRCm39) missense probably damaging 0.96
R0578:Pramel32 UTSW 4 88,552,376 (GRCm39) missense probably benign 0.01
R0600:Pramel32 UTSW 4 88,547,536 (GRCm39) missense probably damaging 1.00
R0750:Pramel32 UTSW 4 88,545,905 (GRCm39) missense probably benign 0.01
R1483:Pramel32 UTSW 4 88,547,071 (GRCm39) missense probably damaging 1.00
R1502:Pramel32 UTSW 4 88,546,269 (GRCm39) missense probably benign 0.00
R1911:Pramel32 UTSW 4 88,548,309 (GRCm39) missense possibly damaging 0.93
R2204:Pramel32 UTSW 4 88,546,355 (GRCm39) missense probably damaging 0.99
R2507:Pramel32 UTSW 4 88,547,448 (GRCm39) missense possibly damaging 0.89
R2512:Pramel32 UTSW 4 88,547,195 (GRCm39) missense probably damaging 0.99
R4299:Pramel32 UTSW 4 88,546,419 (GRCm39) missense probably damaging 0.97
R4498:Pramel32 UTSW 4 88,547,129 (GRCm39) splice site probably null
R4656:Pramel32 UTSW 4 88,548,202 (GRCm39) missense probably benign 0.41
R4787:Pramel32 UTSW 4 88,547,450 (GRCm39) nonsense probably null
R4823:Pramel32 UTSW 4 88,547,452 (GRCm39) missense probably damaging 1.00
R4885:Pramel32 UTSW 4 88,546,219 (GRCm39) missense possibly damaging 0.50
R4948:Pramel32 UTSW 4 88,547,185 (GRCm39) missense probably damaging 1.00
R4967:Pramel32 UTSW 4 88,547,432 (GRCm39) missense probably damaging 1.00
R5229:Pramel32 UTSW 4 88,548,372 (GRCm39) missense possibly damaging 0.92
R5426:Pramel32 UTSW 4 88,547,647 (GRCm39) intron probably benign
R5520:Pramel32 UTSW 4 88,548,277 (GRCm39) missense probably damaging 1.00
R5574:Pramel32 UTSW 4 88,546,280 (GRCm39) missense probably benign 0.10
R5596:Pramel32 UTSW 4 88,548,292 (GRCm39) missense probably damaging 1.00
R6282:Pramel32 UTSW 4 88,548,291 (GRCm39) missense probably damaging 1.00
R6808:Pramel32 UTSW 4 88,548,291 (GRCm39) missense probably damaging 1.00
R6866:Pramel32 UTSW 4 88,545,977 (GRCm39) missense probably damaging 1.00
R7105:Pramel32 UTSW 4 88,548,339 (GRCm39) missense probably damaging 0.98
R7117:Pramel32 UTSW 4 88,547,195 (GRCm39) missense probably damaging 0.99
R7319:Pramel32 UTSW 4 88,548,184 (GRCm39) missense probably benign 0.25
R7345:Pramel32 UTSW 4 88,546,416 (GRCm39) missense possibly damaging 0.88
R7399:Pramel32 UTSW 4 88,546,202 (GRCm39) missense probably benign 0.01
R7626:Pramel32 UTSW 4 88,548,279 (GRCm39) missense probably damaging 1.00
R7751:Pramel32 UTSW 4 88,547,356 (GRCm39) missense probably benign 0.05
R8044:Pramel32 UTSW 4 88,548,212 (GRCm39) missense possibly damaging 0.47
R8849:Pramel32 UTSW 4 88,546,014 (GRCm39) missense probably benign 0.03
R9334:Pramel32 UTSW 4 88,548,186 (GRCm39) missense probably damaging 0.99
R9515:Pramel32 UTSW 4 88,546,219 (GRCm39) missense possibly damaging 0.50
RF012:Pramel32 UTSW 4 88,546,006 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- ATGCTTGTGCCTGGTCATAC -3'
(R):5'- TGCAAACTGTGTGCAGGAG -3'

Sequencing Primer
(F):5'- AGCTCATCTGCTCAGATATGCTATG -3'
(R):5'- TGTGCAGGAGCTGGAGC -3'
Posted On 2018-04-27