Incidental Mutation 'R6511:Prdm12'
ID 519901
Institutional Source Beutler Lab
Gene Symbol Prdm12
Ensembl Gene ENSMUSG00000079466
Gene Name PR domain containing 12
Synonyms LOC381359
MMRRC Submission 044639-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6511 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 31530049-31545807 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31530321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 71 (S71P)
Ref Sequence ENSEMBL: ENSMUSP00000109098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113470]
AlphaFold A2AJ77
Predicted Effect probably damaging
Transcript: ENSMUST00000113470
AA Change: S71P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109098
Gene: ENSMUSG00000079466
AA Change: S71P

DomainStartEndE-ValueType
SET 86 209 1.24e-4 SMART
ZnF_C2H2 243 265 5.5e-3 SMART
ZnF_C2H2 271 293 1.82e-3 SMART
ZnF_C2H2 299 323 2.17e-1 SMART
low complexity region 329 362 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145389
Meta Mutation Damage Score 0.0848 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,195,344 (GRCm39) H718Y probably damaging Het
Abcc8 G A 7: 45,800,285 (GRCm39) T499I possibly damaging Het
Azin2 C A 4: 128,828,259 (GRCm39) R316L probably damaging Het
Cep85l C T 10: 53,154,188 (GRCm39) V702I probably benign Het
Cfap69 A T 5: 5,667,220 (GRCm39) C442S probably damaging Het
Commd3 G A 2: 18,679,650 (GRCm39) G148R probably benign Het
Cyfip2 T C 11: 46,087,135 (GRCm39) T1252A probably benign Het
Cyp4a30b A T 4: 115,313,905 (GRCm39) D162V probably damaging Het
Exoc3l G T 8: 106,019,887 (GRCm39) T346K probably benign Het
Gas8 T C 8: 124,250,896 (GRCm39) V123A probably benign Het
Hmcn2 T G 2: 31,246,354 (GRCm39) D774E possibly damaging Het
Itga1 G T 13: 115,129,037 (GRCm39) S540R probably damaging Het
Itpr2 T C 6: 146,231,225 (GRCm39) N1145S probably damaging Het
Kcnc2 C T 10: 112,297,972 (GRCm39) probably benign Het
Lrp5 G A 19: 3,702,296 (GRCm39) R174W probably damaging Het
Lrrn4 T G 2: 132,712,246 (GRCm39) S526R probably benign Het
Map3k6 G A 4: 132,975,389 (GRCm39) R708H probably damaging Het
Mefv T C 16: 3,533,810 (GRCm39) T154A probably benign Het
Mrtfb T A 16: 13,197,714 (GRCm39) S66R probably damaging Het
Mtif2 G T 11: 29,486,949 (GRCm39) A320S possibly damaging Het
Nos2 A G 11: 78,846,290 (GRCm39) probably null Het
Or4k15b A G 14: 50,272,266 (GRCm39) L198P probably damaging Het
Or9g4 A G 2: 85,505,184 (GRCm39) S104P possibly damaging Het
Pip5k1c T C 10: 81,146,651 (GRCm39) Y44H probably damaging Het
Ppp1r13b T C 12: 111,798,001 (GRCm39) E972G probably damaging Het
Prkag2 G T 5: 25,305,286 (GRCm39) probably benign Het
Ptprb T C 10: 116,182,725 (GRCm39) L1467P probably damaging Het
Rnf43 G A 11: 87,622,989 (GRCm39) V697I probably benign Het
Rpl7 C A 1: 16,173,889 (GRCm39) A12S probably benign Het
Slc25a54 T G 3: 109,001,572 (GRCm39) I120S possibly damaging Het
Slc41a2 T C 10: 83,119,652 (GRCm39) H370R probably damaging Het
Speer1d A G 5: 11,307,275 (GRCm39) Y51C probably benign Het
Sv2c C T 13: 96,185,033 (GRCm39) V215I probably benign Het
Synpo2l T C 14: 20,712,518 (GRCm39) E34G probably damaging Het
Tubgcp5 T A 7: 55,467,140 (GRCm39) C703* probably null Het
Vmn1r158 T C 7: 22,490,116 (GRCm39) K31R probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfp2 A T 11: 50,791,234 (GRCm39) C270S probably damaging Het
Other mutations in Prdm12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0674:Prdm12 UTSW 2 31,533,924 (GRCm39) missense probably benign 0.23
R1424:Prdm12 UTSW 2 31,533,823 (GRCm39) missense probably damaging 1.00
R1434:Prdm12 UTSW 2 31,530,319 (GRCm39) missense possibly damaging 0.73
R1495:Prdm12 UTSW 2 31,530,205 (GRCm39) missense probably damaging 1.00
R1509:Prdm12 UTSW 2 31,544,186 (GRCm39) missense probably damaging 1.00
R2135:Prdm12 UTSW 2 31,530,325 (GRCm39) missense possibly damaging 0.73
R2432:Prdm12 UTSW 2 31,541,864 (GRCm39) missense probably benign 0.02
R3801:Prdm12 UTSW 2 31,541,959 (GRCm39) missense probably damaging 0.96
R6092:Prdm12 UTSW 2 31,533,889 (GRCm39) missense probably damaging 1.00
R6311:Prdm12 UTSW 2 31,544,321 (GRCm39) missense probably benign 0.14
R7252:Prdm12 UTSW 2 31,532,386 (GRCm39) missense possibly damaging 0.92
R7292:Prdm12 UTSW 2 31,533,862 (GRCm39) missense probably damaging 1.00
R7686:Prdm12 UTSW 2 31,530,229 (GRCm39) missense probably damaging 0.96
R7747:Prdm12 UTSW 2 31,543,883 (GRCm39) splice site probably null
R7872:Prdm12 UTSW 2 31,530,231 (GRCm39) missense probably damaging 1.00
R8077:Prdm12 UTSW 2 31,532,316 (GRCm39) missense probably damaging 0.99
R9108:Prdm12 UTSW 2 31,533,929 (GRCm39) missense possibly damaging 0.95
R9231:Prdm12 UTSW 2 31,530,265 (GRCm39) missense probably benign 0.05
R9391:Prdm12 UTSW 2 31,544,162 (GRCm39) missense probably benign 0.30
X0023:Prdm12 UTSW 2 31,530,292 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCAAAACAGGGCTGAAGGC -3'
(R):5'- TAATGCCAGGAAACCGCCAG -3'

Sequencing Primer
(F):5'- CTGAAGGCTCCGGGGTTG -3'
(R):5'- TTCCATGAGGCCGTTGCAAC -3'
Posted On 2018-06-06