Incidental Mutation 'R5520:Pramel32'
ID 431492
Institutional Source Beutler Lab
Gene Symbol Pramel32
Ensembl Gene ENSMUSG00000038330
Gene Name PRAME like 32
Synonyms C87499
MMRRC Submission 043079-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.394) question?
Stock # R5520 (G1)
Quality Score 222
Status Not validated
Chromosome 4
Chromosomal Location 88545557-88552423 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 88548277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 43 (S43A)
Ref Sequence ENSEMBL: ENSMUSP00000102760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053304] [ENSMUST00000107142] [ENSMUST00000107143] [ENSMUST00000134155] [ENSMUST00000156062]
AlphaFold Q3UX49
Predicted Effect probably damaging
Transcript: ENSMUST00000053304
AA Change: S43A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056691
Gene: ENSMUSG00000038330
AA Change: S43A

DomainStartEndE-ValueType
SCOP:d1a4ya_ 223 425 4e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107142
AA Change: S43A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000107143
AA Change: S43A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000134155
Predicted Effect probably benign
Transcript: ENSMUST00000156062
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.6%
  • 10x: 94.8%
  • 20x: 88.6%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 T A 4: 144,504,594 (GRCm39) T186S probably benign Het
AI467606 C T 7: 126,691,998 (GRCm39) P191L probably benign Het
Aoc1l1 C A 6: 48,952,728 (GRCm39) Q218K possibly damaging Het
Arl9 T C 5: 77,154,440 (GRCm39) V56A probably damaging Het
Cacng5 T C 11: 107,768,248 (GRCm39) Q253R probably benign Het
Cc2d1b T C 4: 108,483,556 (GRCm39) M331T possibly damaging Het
Cep97 A G 16: 55,735,659 (GRCm39) S380P probably benign Het
Clpx A T 9: 65,224,730 (GRCm39) K153* probably null Het
Dclk2 A G 3: 86,827,147 (GRCm39) S111P probably damaging Het
E2f7 A G 10: 110,595,806 (GRCm39) E167G probably damaging Het
Edn1 T C 13: 42,455,436 (GRCm39) probably null Het
Farp1 C T 14: 121,472,489 (GRCm39) P208L probably damaging Het
Fbxw18 G T 9: 109,520,589 (GRCm39) H257N probably benign Het
Ftsj3 T C 11: 106,146,414 (GRCm39) T22A probably benign Het
Gm17019 A T 5: 15,082,819 (GRCm39) M45K possibly damaging Het
Gpr162 T C 6: 124,837,876 (GRCm39) D258G probably damaging Het
Grk1 T A 8: 13,459,305 (GRCm39) D285E probably benign Het
Herc6 A T 6: 57,624,105 (GRCm39) D625V possibly damaging Het
Igkv1-135 C T 6: 67,587,324 (GRCm39) P65L possibly damaging Het
Lepr T C 4: 101,602,734 (GRCm39) L174P probably benign Het
Nphp3 A G 9: 103,901,872 (GRCm39) S689G probably benign Het
Or14c44 T A 7: 86,062,064 (GRCm39) S165T probably benign Het
Or5w20 T C 2: 87,726,753 (GRCm39) probably benign Het
Phf8-ps A G 17: 33,284,367 (GRCm39) Y812H probably benign Het
Plxnb2 T G 15: 89,051,746 (GRCm39) T158P possibly damaging Het
R3hcc1 T A 14: 69,936,057 (GRCm39) K437* probably null Het
Rnf213 C A 11: 119,324,325 (GRCm39) H1428Q probably damaging Het
Ro60 A T 1: 143,646,509 (GRCm39) S79T probably benign Het
Spata31e2 A T 1: 26,724,900 (GRCm39) N93K probably benign Het
Ssx2ip G A 3: 146,143,066 (GRCm39) R548H probably benign Het
Trim23 C T 13: 104,324,035 (GRCm39) R165C probably damaging Het
Ulk2 T G 11: 61,698,970 (GRCm39) T405P probably damaging Het
Unkl G A 17: 25,424,584 (GRCm39) V204I probably damaging Het
Vmn1r43 T C 6: 89,846,728 (GRCm39) T253A probably damaging Het
Zfp534 T C 4: 147,759,887 (GRCm39) I261V possibly damaging 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
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
R6366:Pramel32 UTSW 4 88,547,102 (GRCm39) missense probably damaging 0.99
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'- GCACAGCCTTCAAAGTCTCC -3'
(R):5'- GGCTGATCAACTTGATAAACTGAG -3'

Sequencing Primer
(F):5'- AGCCTTCAAAGTCTCCAGGTTGG -3'
(R):5'- TACTCATCAGCAGTGATCTAGC -3'
Posted On 2016-10-05