Incidental Mutation 'R8345:Pramel12'
ID 645153
Institutional Source Beutler Lab
Gene Symbol Pramel12
Ensembl Gene ENSMUSG00000046862
Gene Name PRAME like 12
Synonyms Pramef8, 4732496O08Rik
MMRRC Submission 067801-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R8345 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 143138996-143147661 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 143143438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 68 (T68I)
Ref Sequence ENSEMBL: ENSMUSP00000041323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037356] [ENSMUST00000059790] [ENSMUST00000132915] [ENSMUST00000155157]
AlphaFold Q8CE24
Predicted Effect probably benign
Transcript: ENSMUST00000037356
AA Change: T68I

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000041323
Gene: ENSMUSG00000046862
AA Change: T68I

DomainStartEndE-ValueType
SCOP:d1a4ya_ 205 410 3e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000059790
AA Change: T68I

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000058676
Gene: ENSMUSG00000046862
AA Change: T68I

DomainStartEndE-ValueType
SCOP:d1a4ya_ 205 410 3e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132915
Predicted Effect probably benign
Transcript: ENSMUST00000155157
AA Change: T68I

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf3 T C 8: 123,508,284 (GRCm39) V260A probably benign Het
Adgrv1 T C 13: 81,251,505 (GRCm39) D6204G probably damaging Het
Ago3 T A 4: 126,270,721 (GRCm39) K258* probably null Het
Aspm T G 1: 139,392,011 (GRCm39) Y787* probably null Het
Atp8b5 A C 4: 43,291,714 (GRCm39) D29A probably benign Het
Bdh2 A T 3: 135,001,013 (GRCm39) I128F probably damaging Het
Bmper T A 9: 23,136,126 (GRCm39) M69K probably benign Het
Ccdc7a C T 8: 129,525,245 (GRCm39) M1415I probably benign Het
Ccpg1 G A 9: 72,913,001 (GRCm39) R179H probably damaging Het
Cdc23 G A 18: 34,767,150 (GRCm39) T564I probably benign Het
Cemip T A 7: 83,591,373 (GRCm39) probably null Het
Cfap65 C T 1: 74,967,203 (GRCm39) G249R probably benign Het
Clec2m T A 6: 129,302,593 (GRCm39) N145Y probably damaging Het
Cpsf1 T A 15: 76,485,690 (GRCm39) T435S probably benign Het
Dennd5a T C 7: 109,504,477 (GRCm39) T879A possibly damaging Het
Diaph3 G A 14: 87,066,529 (GRCm39) Q955* probably null Het
Disp2 G A 2: 118,641,284 (GRCm39) V298M unknown Het
Dnah1 C A 14: 30,986,551 (GRCm39) D3671Y probably damaging Het
Dnmt3a T C 12: 3,885,234 (GRCm39) S13P unknown Het
Eci3 G A 13: 35,132,164 (GRCm39) T228I probably damaging Het
Ecm2 T C 13: 49,674,276 (GRCm39) L232P probably benign Het
Ednra G A 8: 78,415,813 (GRCm39) R145C probably damaging Het
Faap100 G T 11: 120,267,856 (GRCm39) H306N possibly damaging Het
Fam8a1 T A 13: 46,827,054 (GRCm39) I275K probably damaging Het
Fat3 C A 9: 15,910,570 (GRCm39) V1811L probably benign Het
Fbn2 C T 18: 58,191,503 (GRCm39) C1540Y probably damaging Het
Fcgbpl1 G A 7: 27,854,785 (GRCm39) V1804M probably damaging Het
Ffar3 A G 7: 30,554,789 (GRCm39) L177P probably damaging Het
Fmnl1 A G 11: 103,077,440 (GRCm39) T267A possibly damaging Het
Fsip1 T C 2: 118,070,952 (GRCm39) E246G probably damaging Het
Gemin4 A G 11: 76,101,605 (GRCm39) L1052P probably damaging Het
Gp2 C T 7: 119,042,010 (GRCm39) C505Y probably benign Het
Grm5 A T 7: 87,723,746 (GRCm39) I679F probably damaging Het
Hapln1 A T 13: 89,732,902 (GRCm39) D21V probably benign Het
Jak2 T C 19: 29,262,270 (GRCm39) S364P probably damaging Het
Kansl3 A G 1: 36,387,897 (GRCm39) probably null Het
Kntc1 T C 5: 123,924,993 (GRCm39) L1102S probably benign Het
Mbd3l2 A G 9: 18,355,779 (GRCm39) I35V probably benign Het
Mdfic G T 6: 15,799,653 (GRCm39) C260F probably damaging Het
Mroh2b T C 15: 4,973,808 (GRCm39) S1109P probably benign Het
Myocd A T 11: 65,077,958 (GRCm39) C612* probably null Het
Or4b13 A T 2: 90,082,561 (GRCm39) M257K possibly damaging Het
Or4c102 A G 2: 88,422,435 (GRCm39) M96V probably benign Het
Or4f17-ps1 T A 2: 111,357,864 (GRCm39) C86* probably null Het
Or52h7 T A 7: 104,213,431 (GRCm39) M1K probably null Het
Or5w22 A T 2: 87,362,691 (GRCm39) T105S probably benign Het
Or8k21 A T 2: 86,145,451 (GRCm39) Y60N probably damaging Het
Pard3 C T 8: 128,050,549 (GRCm39) R204W probably damaging Het
Per1 T A 11: 68,998,382 (GRCm39) N1031K possibly damaging Het
Plekhh3 A G 11: 101,055,105 (GRCm39) S583P unknown Het
Prex2 T A 1: 11,270,118 (GRCm39) C1268S possibly damaging Het
Prpf6 T C 2: 181,291,951 (GRCm39) I756T probably benign Het
Pum2 T C 12: 8,759,454 (GRCm39) V98A probably damaging Het
Rad50 A T 11: 53,574,968 (GRCm39) S652T probably benign Het
Rfng G T 11: 120,674,901 (GRCm39) P30T unknown Het
Rfx7 T C 9: 72,524,973 (GRCm39) I721T probably benign Het
Rpf1 G T 3: 146,213,431 (GRCm39) T240K probably benign Het
Ryr3 T C 2: 112,483,270 (GRCm39) N4189S probably benign Het
Samd15 G C 12: 87,248,212 (GRCm39) R299T probably benign Het
Scn3a A G 2: 65,329,335 (GRCm39) M765T possibly damaging Het
Scn9a G A 2: 66,324,966 (GRCm39) S1396L probably damaging Het
Sec24a C T 11: 51,634,605 (GRCm39) R107Q probably benign Het
Sema4b T A 7: 79,870,567 (GRCm39) V505E probably damaging Het
Siglec1 T A 2: 130,920,498 (GRCm39) T769S possibly damaging Het
Sit1 T C 4: 43,483,168 (GRCm39) E69G possibly damaging Het
Slc12a8 C A 16: 33,371,321 (GRCm39) D121E probably benign Het
Slc30a10 A T 1: 185,187,664 (GRCm39) Q135L probably benign Het
Suox A G 10: 128,507,200 (GRCm39) V276A probably benign Het
Tbc1d9b A G 11: 50,040,659 (GRCm39) D392G probably damaging Het
Tmed5 A G 5: 108,273,823 (GRCm39) W139R probably damaging Het
Tnks1bp1 C T 2: 84,893,226 (GRCm39) T389I possibly damaging Het
Vmn1r65 A T 7: 6,011,256 (GRCm39) I326K probably benign Het
Vmn2r43 A G 7: 8,256,601 (GRCm39) S421P possibly damaging Het
Vmn2r57 A T 7: 41,076,968 (GRCm39) N399K possibly damaging Het
Vmn2r90 T A 17: 17,933,127 (GRCm39) L229* probably null Het
Vwf A T 6: 125,656,265 (GRCm39) D2610V Het
Zfp646 C T 7: 127,483,082 (GRCm39) S1753L probably benign Het
Zfy2 C A Y: 2,107,096 (GRCm39) V513F possibly damaging Het
Zranb2 A T 3: 157,251,731 (GRCm39) I317F unknown 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
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
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'- ACTCCTGCAGCTGTCAGTAC -3'
(R):5'- AGCTATACTGGCTAGGGCTTC -3'

Sequencing Primer
(F):5'- TGTCAGTACAGAGACTACTGAGG -3'
(R):5'- GGGCTTCTGCAGTCTTCAAAATGAC -3'
Posted On 2020-09-02