Incidental Mutation 'IGL01800:Pramel12'
ID 155481
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pramel12
Ensembl Gene ENSMUSG00000046862
Gene Name PRAME like 12
Synonyms Pramef8, 4732496O08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL01800
Quality Score
Status
Chromosome 4
Chromosomal Location 143138996-143147661 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143145650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 373 (L373P)
Ref Sequence ENSEMBL: ENSMUSP00000058676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037356] [ENSMUST00000059790] [ENSMUST00000132915] [ENSMUST00000155157]
AlphaFold Q8CE24
Predicted Effect probably damaging
Transcript: ENSMUST00000037356
AA Change: L373P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000041323
Gene: ENSMUSG00000046862
AA Change: L373P

DomainStartEndE-ValueType
SCOP:d1a4ya_ 205 410 3e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000059790
AA Change: L373P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000058676
Gene: ENSMUSG00000046862
AA Change: L373P

DomainStartEndE-ValueType
SCOP:d1a4ya_ 205 410 3e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126398
Predicted Effect probably benign
Transcript: ENSMUST00000132915
Predicted Effect probably benign
Transcript: ENSMUST00000155157
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A G 19: 43,772,734 (GRCm39) Y48C possibly damaging Het
Acsm3 T C 7: 119,373,866 (GRCm39) S251P possibly damaging Het
Ano5 G A 7: 51,222,823 (GRCm39) probably null Het
Ccdc65 C T 15: 98,606,946 (GRCm39) A51V probably benign Het
Cspg5 A G 9: 110,080,218 (GRCm39) probably benign Het
Dhx30 A G 9: 109,914,581 (GRCm39) V935A possibly damaging Het
Disp3 T A 4: 148,334,258 (GRCm39) K1012* probably null Het
Dock2 T C 11: 34,647,100 (GRCm39) N18S probably damaging Het
Dst A T 1: 34,301,173 (GRCm39) I1180F probably damaging Het
Elp2 A G 18: 24,750,548 (GRCm39) Y295C probably benign Het
Eml2 A G 7: 18,935,122 (GRCm39) probably benign Het
Fat4 A G 3: 39,035,878 (GRCm39) T3177A probably damaging Het
Flrt2 A T 12: 95,746,462 (GRCm39) I267F probably damaging Het
Gm5611 T G 9: 16,941,767 (GRCm39) noncoding transcript Het
Gstcd A G 3: 132,790,335 (GRCm39) probably null Het
Gucy1b2 T C 14: 62,649,104 (GRCm39) M476V probably benign Het
Jak2 A G 19: 29,263,693 (GRCm39) probably benign Het
Kcnt1 T C 2: 25,778,137 (GRCm39) F85S probably damaging Het
Kcnu1 G A 8: 26,427,528 (GRCm39) V282M probably damaging Het
Lancl1 T G 1: 67,060,029 (GRCm39) E132A probably benign Het
Or4g7 T C 2: 111,309,209 (GRCm39) F27L probably benign Het
Or5b106 A G 19: 13,123,993 (GRCm39) F10S probably damaging Het
Pigm G A 1: 172,204,770 (GRCm39) A169T probably damaging Het
Ppargc1a A G 5: 51,652,063 (GRCm39) Y212H probably damaging Het
Ppp1r13l A T 7: 19,111,936 (GRCm39) probably benign Het
Rictor T C 15: 6,804,182 (GRCm39) I554T probably damaging Het
Sbno1 G A 5: 124,519,568 (GRCm39) probably benign Het
Sesn2 G T 4: 132,226,418 (GRCm39) L194I probably damaging Het
Slc26a2 A T 18: 61,334,801 (GRCm39) Y217* probably null Het
Sptbn5 G T 2: 119,886,908 (GRCm39) probably benign Het
Tmem184a A T 5: 139,798,899 (GRCm39) S17T possibly damaging Het
Trhr T C 15: 44,092,603 (GRCm39) M280T possibly damaging Het
Ube2j1 A T 4: 33,045,115 (GRCm39) E129D probably benign Het
Ube4b A T 4: 149,415,951 (GRCm39) S3T probably damaging Het
Vmn2r49 A T 7: 9,710,601 (GRCm39) C710* probably null Het
Vmn2r82 C T 10: 79,192,581 (GRCm39) R53C probably benign Het
Zdhhc2 T C 8: 40,917,284 (GRCm39) L227P probably damaging Het
Zfp995 A C 17: 22,099,972 (GRCm39) H87Q possibly damaging Het
Other mutations in Pramel12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Pramel12 APN 4 143,143,237 (GRCm39) start codon destroyed probably null 1.00
IGL01483:Pramel12 APN 4 143,144,047 (GRCm39) missense probably damaging 0.99
IGL02063:Pramel12 APN 4 143,144,421 (GRCm39) missense probably benign 0.00
IGL02216:Pramel12 APN 4 143,144,298 (GRCm39) splice site probably null
IGL02236:Pramel12 APN 4 143,143,512 (GRCm39) missense probably benign 0.07
IGL03013:Pramel12 APN 4 143,144,037 (GRCm39) missense possibly damaging 0.64
R0658:Pramel12 UTSW 4 143,144,170 (GRCm39) missense probably damaging 1.00
R1485:Pramel12 UTSW 4 143,144,188 (GRCm39) missense probably benign 0.01
R2049:Pramel12 UTSW 4 143,143,441 (GRCm39) missense probably damaging 1.00
R2518:Pramel12 UTSW 4 143,144,473 (GRCm39) missense possibly damaging 0.89
R3720:Pramel12 UTSW 4 143,145,949 (GRCm39) missense probably benign 0.10
R3738:Pramel12 UTSW 4 143,143,212 (GRCm39) utr 5 prime probably benign
R3961:Pramel12 UTSW 4 143,145,888 (GRCm39) missense probably benign 0.00
R4583:Pramel12 UTSW 4 143,143,324 (GRCm39) missense probably damaging 1.00
R5135:Pramel12 UTSW 4 143,145,579 (GRCm39) missense probably benign 0.01
R5348:Pramel12 UTSW 4 143,143,351 (GRCm39) missense probably damaging 1.00
R5473:Pramel12 UTSW 4 143,145,874 (GRCm39) missense probably damaging 1.00
R5977:Pramel12 UTSW 4 143,144,229 (GRCm39) missense probably benign 0.02
R6909:Pramel12 UTSW 4 143,144,479 (GRCm39) missense probably damaging 1.00
R7441:Pramel12 UTSW 4 143,145,410 (GRCm39) missense probably benign 0.00
R7777:Pramel12 UTSW 4 143,144,331 (GRCm39) missense possibly damaging 0.88
R8053:Pramel12 UTSW 4 143,144,208 (GRCm39) missense probably benign 0.01
R8218:Pramel12 UTSW 4 143,145,706 (GRCm39) missense probably benign 0.01
R8345:Pramel12 UTSW 4 143,143,438 (GRCm39) missense probably benign 0.18
R8963:Pramel12 UTSW 4 143,144,229 (GRCm39) missense probably benign 0.02
R9047:Pramel12 UTSW 4 143,145,673 (GRCm39) missense possibly damaging 0.93
R9395:Pramel12 UTSW 4 143,145,605 (GRCm39) missense probably benign 0.23
R9570:Pramel12 UTSW 4 143,144,514 (GRCm39) missense probably benign 0.02
Posted On 2014-02-04