Incidental Mutation 'R3961:Pramel12'
ID 312079
Institutional Source Beutler Lab
Gene Symbol Pramel12
Ensembl Gene ENSMUSG00000046862
Gene Name PRAME like 12
Synonyms Pramef8, 4732496O08Rik
MMRRC Submission 040836-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R3961 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 143138996-143147661 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 143145888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 452 (N452K)
Ref Sequence ENSEMBL: ENSMUSP00000058676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037356] [ENSMUST00000059790] [ENSMUST00000132915] [ENSMUST00000155157]
AlphaFold Q8CE24
Predicted Effect probably benign
Transcript: ENSMUST00000037356
AA Change: N452K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000041323
Gene: ENSMUSG00000046862
AA Change: N452K

DomainStartEndE-ValueType
SCOP:d1a4ya_ 205 410 3e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000059790
AA Change: N452K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000058676
Gene: ENSMUSG00000046862
AA Change: N452K

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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,838,803 (GRCm39) T595A possibly damaging Het
Bicral T C 17: 47,135,751 (GRCm39) I486M probably damaging Het
Btbd1 C A 7: 81,468,083 (GRCm39) E146* probably null Het
Cdcp1 T C 9: 123,011,446 (GRCm39) T344A possibly damaging Het
Cenpm A T 15: 82,118,574 (GRCm39) L180Q possibly damaging Het
Cers3 G T 7: 66,435,823 (GRCm39) A261S probably benign Het
Dazl A G 17: 50,595,161 (GRCm39) V91A probably damaging Het
Dsc2 C T 18: 20,184,284 (GRCm39) V35I probably damaging Het
Fras1 T C 5: 96,825,244 (GRCm39) probably null Het
Ltbp3 G A 19: 5,804,050 (GRCm39) R854Q probably benign Het
Minar1 G A 9: 89,483,963 (GRCm39) T478I probably damaging Het
Mme T A 3: 63,252,613 (GRCm39) M419K probably damaging Het
Ncan G A 8: 70,562,950 (GRCm39) T436M probably benign Het
Nphp3 G T 9: 103,880,241 (GRCm39) E88* probably null Het
Or5ak23 T C 2: 85,245,216 (GRCm39) I2M possibly damaging Het
Pdcl T C 2: 37,242,199 (GRCm39) M184V probably benign Het
Polr3b T C 10: 84,520,166 (GRCm39) M694T possibly damaging Het
Prkdc T G 16: 15,647,475 (GRCm39) probably null Het
Prss35 A G 9: 86,637,802 (GRCm39) M191V probably benign Het
Rtn3 T C 19: 7,435,510 (GRCm39) S142G probably damaging Het
Slc19a3 A T 1: 83,000,678 (GRCm39) F113Y probably damaging Het
Taf7 A G 18: 37,776,174 (GRCm39) V131A probably benign Het
Tesk1 A G 4: 43,445,133 (GRCm39) probably null Het
Tmem131 C T 1: 36,858,031 (GRCm39) D741N probably damaging Het
Tmem63a G A 1: 180,790,679 (GRCm39) D446N possibly damaging Het
Tpte A G 8: 22,849,431 (GRCm39) S553G probably damaging Het
Trpv3 A T 11: 73,178,246 (GRCm39) K438* probably null Het
Vmn2r107 G A 17: 20,595,717 (GRCm39) G757R probably 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
IGL01800:Pramel12 APN 4 143,145,650 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGGCTGTTCTAAAGGACCTTC -3'
(R):5'- TTGTGGTCTAACCCTCCAGC -3'

Sequencing Primer
(F):5'- GTTCTAAAGGACCTTCTGTATCACAC -3'
(R):5'- CCATTTGGGTTCCCAGATAATGAGC -3'
Posted On 2015-04-29