Incidental Mutation 'R8980:Pramel38'
ID 683683
Institutional Source Beutler Lab
Gene Symbol Pramel38
Ensembl Gene ENSMUSG00000096259
Gene Name PRAME like 38
Synonyms Gm3106
MMRRC Submission 068813-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.223) question?
Stock # R8980 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 94365864-94369869 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94366035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 51 (L51P)
Ref Sequence ENSEMBL: ENSMUSP00000137294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179743]
AlphaFold J3QPH3
Predicted Effect probably damaging
Transcript: ENSMUST00000179743
AA Change: L51P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137294
Gene: ENSMUSG00000096259
AA Change: L51P

DomainStartEndE-ValueType
SCOP:d1a4ya_ 273 402 3e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 G C 16: 14,278,961 (GRCm39) M1090I probably damaging Het
Ak7 T A 12: 105,747,158 (GRCm39) V675E probably benign Het
Ano10 T A 9: 122,090,558 (GRCm39) I252L probably benign Het
Ano6 A G 15: 95,865,563 (GRCm39) Y828C probably damaging Het
Aurkaip1 T G 4: 155,916,873 (GRCm39) S40R probably damaging Het
Bcl2l11 T A 2: 128,000,200 (GRCm39) I181N possibly damaging Het
Cdh23 T C 10: 60,173,625 (GRCm39) Y1621C probably benign Het
Cep68 A T 11: 20,190,390 (GRCm39) N207K probably benign Het
Clock T C 5: 76,402,286 (GRCm39) I125V probably benign Het
Efcab8 G C 2: 153,646,861 (GRCm39) V397L unknown Het
Ephb6 C T 6: 41,590,293 (GRCm39) A15V probably benign Het
Eps15l1 A T 8: 73,127,734 (GRCm39) H614Q probably benign Het
Gm29106 G A 1: 118,127,114 (GRCm39) G269R possibly damaging Het
Hexb A G 13: 97,330,689 (GRCm39) V108A probably damaging Het
Ibtk G T 9: 85,614,783 (GRCm39) C185* probably null Het
Josd2 A G 7: 44,117,702 (GRCm39) probably benign Het
Krt76 C T 15: 101,800,990 (GRCm39) G102D unknown Het
Nrap T A 19: 56,343,970 (GRCm39) S645C probably damaging Het
Or7g12 A G 9: 18,899,423 (GRCm39) I46M probably damaging Het
Prl2c5 T A 13: 13,360,470 (GRCm39) F46I probably benign Het
Prss16 C T 13: 22,187,212 (GRCm39) V453I probably benign Het
Psd A G 19: 46,310,657 (GRCm39) L464P possibly damaging Het
Ptprb T C 10: 116,119,526 (GRCm39) L220P probably benign Het
Rab7 A T 6: 87,977,502 (GRCm39) V180E probably benign Het
Rc3h1 A G 1: 160,782,595 (GRCm39) I691M probably benign Het
Rnf150 A G 8: 83,717,087 (GRCm39) N198S probably benign Het
Sema4g A T 19: 44,981,583 (GRCm39) M100L probably benign Het
Slc25a21 A G 12: 56,816,949 (GRCm39) S106P probably benign Het
Slc27a5 C A 7: 12,725,090 (GRCm39) R452S probably benign Het
St8sia5 A G 18: 77,333,761 (GRCm39) probably null Het
Themis3 A T 17: 66,862,536 (GRCm39) I474N probably damaging Het
Uckl1 C A 2: 181,216,157 (GRCm39) probably benign Het
Vmn1r177 A G 7: 23,565,144 (GRCm39) V244A probably damaging Het
Vmn2r1 T A 3: 64,010,501 (GRCm39) Y580N Het
Zfp1006 G A 8: 129,945,680 (GRCm39) P382S probably damaging Het
Zfp11 T A 5: 129,737,843 (GRCm39) M1L probably benign Het
Zfp462 TACCACCACCACCACCACCACCA TACCACCACCACCACCACCA 4: 55,009,681 (GRCm39) probably benign Het
Zfp521 C A 18: 13,979,137 (GRCm39) L425F probably damaging Het
Zfp827 T C 8: 79,803,092 (GRCm39) S555P probably benign Het
Other mutations in Pramel38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03121:Pramel38 APN 5 94,368,912 (GRCm39) missense possibly damaging 0.89
PIT4515001:Pramel38 UTSW 5 94,368,831 (GRCm39) missense probably benign 0.11
R4473:Pramel38 UTSW 5 94,366,029 (GRCm39) missense probably benign 0.01
R6891:Pramel38 UTSW 5 94,365,978 (GRCm39) missense probably damaging 1.00
R7190:Pramel38 UTSW 5 94,366,096 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTAAATGCTTCCCCAGGAGC -3'
(R):5'- AGGACAAAGCCATTCTCCCTG -3'

Sequencing Primer
(F):5'- CCCAGGAGCCTTCTTCCTG -3'
(R):5'- CCTGGCAATGTCTACTGTGTAC -3'
Posted On 2021-10-11