Incidental Mutation 'R6909:Pramel12'
ID 538914
Institutional Source Beutler Lab
Gene Symbol Pramel12
Ensembl Gene ENSMUSG00000046862
Gene Name PRAME like 12
Synonyms Pramef8, 4732496O08Rik
MMRRC Submission 045001-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R6909 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 143138996-143147661 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143144479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 275 (L275P)
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: L275P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041323
Gene: ENSMUSG00000046862
AA Change: L275P

DomainStartEndE-ValueType
SCOP:d1a4ya_ 205 410 3e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000059790
AA Change: L275P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058676
Gene: ENSMUSG00000046862
AA Change: L275P

DomainStartEndE-ValueType
SCOP:d1a4ya_ 205 410 3e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132915
Predicted Effect probably benign
Transcript: ENSMUST00000155157
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 G T 11: 110,006,323 (GRCm39) Q1261K probably benign Het
Acp3 T C 9: 104,178,164 (GRCm39) Y329C probably damaging Het
Agrn G T 4: 156,261,464 (GRCm39) H585N possibly damaging Het
Ano1 G A 7: 144,209,468 (GRCm39) T211M probably damaging Het
Atic T G 1: 71,616,005 (GRCm39) probably null Het
Catsperd T A 17: 56,957,781 (GRCm39) S229R probably damaging Het
Ccdc168 C T 1: 44,098,935 (GRCm39) R721Q possibly damaging Het
Cfap210 A T 2: 69,612,192 (GRCm39) probably null Het
Cfap251 A G 5: 123,425,815 (GRCm39) Y418C probably damaging Het
Cibar1 T C 4: 12,168,309 (GRCm39) T97A probably benign Het
Cmya5 T C 13: 93,227,760 (GRCm39) T2443A probably benign Het
Dysf A T 6: 84,169,920 (GRCm39) E1772V probably damaging Het
Eps8l1 T A 7: 4,472,899 (GRCm39) L107* probably null Het
Fpr3 T A 17: 18,191,429 (GRCm39) F233L probably benign Het
Gjc2 A T 11: 59,067,918 (GRCm39) V188E unknown Het
Gm45861 T A 8: 28,017,109 (GRCm39) Y690N unknown Het
Gsdma2 T A 11: 98,543,383 (GRCm39) C224* probably null Het
Gucy2d T A 7: 98,116,832 (GRCm39) Y881N probably damaging Het
Hcn3 A G 3: 89,059,936 (GRCm39) probably null Het
Hectd1 G T 12: 51,810,945 (GRCm39) probably null Het
Ifitm5 A G 7: 140,529,172 (GRCm39) F146L probably benign Het
Impg2 T C 16: 56,024,947 (GRCm39) F18S probably damaging Het
Ino80c T A 18: 24,241,812 (GRCm39) probably benign Het
Itga10 A G 3: 96,569,915 (GRCm39) H1109R probably benign Het
Kdm3b T A 18: 34,960,381 (GRCm39) probably null Het
Klra8 T G 6: 130,102,123 (GRCm39) N104T probably benign Het
Llgl2 G A 11: 115,741,625 (GRCm39) C585Y probably damaging Het
Lmod2 T A 6: 24,604,157 (GRCm39) D377E probably benign Het
Lrat G A 3: 82,810,961 (GRCm39) S20F probably damaging Het
Lrrc43 T A 5: 123,638,482 (GRCm39) H363Q probably benign Het
Lyst T G 13: 13,917,960 (GRCm39) I3340S probably damaging Het
Magi1 C A 6: 93,674,301 (GRCm39) G948W probably damaging Het
Map3k4 A C 17: 12,489,872 (GRCm39) F520V probably damaging Het
Mcm4 A T 16: 15,446,561 (GRCm39) N607K probably damaging Het
Mta3 T C 17: 84,073,980 (GRCm39) V216A possibly damaging Het
Ncor1 C A 11: 62,220,312 (GRCm39) G2131V probably damaging Het
Or10ag2 A G 2: 87,248,959 (GRCm39) H189R probably damaging Het
Or2z9 T A 8: 72,854,372 (GRCm39) V256E possibly damaging Het
Or5d16 A G 2: 87,773,034 (GRCm39) S313P probably benign Het
Or9k7 T A 10: 130,046,622 (GRCm39) I126L probably benign Het
Ptpn2 A T 18: 67,809,041 (GRCm39) probably null Het
Scn10a A G 9: 119,438,856 (GRCm39) I1671T probably damaging Het
Scyl2 A T 10: 89,481,604 (GRCm39) S622T probably benign Het
Sim1 C T 10: 50,785,506 (GRCm39) R192C possibly damaging Het
Skor2 A G 18: 76,948,252 (GRCm39) H658R possibly damaging Het
Slc10a5 A G 3: 10,400,655 (GRCm39) S2P possibly damaging Het
Slc37a4 A T 9: 44,311,331 (GRCm39) K207N possibly damaging Het
Syne2 G T 12: 76,110,969 (GRCm39) V5768L probably benign Het
Tdpoz3 T A 3: 93,733,772 (GRCm39) V149E probably damaging Het
Tekt5 T C 16: 10,176,165 (GRCm39) N460S probably damaging Het
Tk2 G T 8: 104,963,442 (GRCm39) Y142* probably null Het
Tkfc T A 19: 10,573,630 (GRCm39) Q236L probably benign Het
Tln2 G A 9: 67,299,814 (GRCm39) T148I probably damaging Het
Trim62 A G 4: 128,778,021 (GRCm39) D20G probably damaging Het
Tspan14 A C 14: 40,635,398 (GRCm39) V166G probably benign Het
Ttn A T 2: 76,712,065 (GRCm39) probably benign Het
Vmn1r217 T A 13: 23,298,108 (GRCm39) M265L probably benign Het
Vmn2r117 C G 17: 23,698,479 (GRCm39) Q31H possibly damaging Het
Zfp87 T C 13: 74,519,861 (GRCm39) T406A 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
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
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
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'- TGTTCCAGCCAGACAGCATC -3'
(R):5'- GTTGTAATGACTCCATCACTGTGAC -3'

Sequencing Primer
(F):5'- TTGGAACTAAATACAGGTTGGAGCC -3'
(R):5'- TAATGACTCCATCACTGTGACTCCAC -3'
Posted On 2018-11-06