Incidental Mutation 'R2570:Cdk12'
ID 252394
Institutional Source Beutler Lab
Gene Symbol Cdk12
Ensembl Gene ENSMUSG00000003119
Gene Name cyclin dependent kinase 12
Synonyms Crkrs, Crk7, D11Ertd752e, 1810022J16Rik
MMRRC Submission 040428-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2570 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 98093885-98169330 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 98094618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 142 (M142R)
Ref Sequence ENSEMBL: ENSMUSP00000103163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003203] [ENSMUST00000107538] [ENSMUST00000107539]
AlphaFold Q14AX6
Predicted Effect possibly damaging
Transcript: ENSMUST00000003203
AA Change: M142R

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000003203
Gene: ENSMUSG00000003119
AA Change: M142R

DomainStartEndE-ValueType
low complexity region 8 32 N/A INTRINSIC
low complexity region 40 51 N/A INTRINSIC
low complexity region 74 92 N/A INTRINSIC
low complexity region 103 123 N/A INTRINSIC
low complexity region 124 135 N/A INTRINSIC
low complexity region 166 177 N/A INTRINSIC
low complexity region 214 227 N/A INTRINSIC
low complexity region 286 384 N/A INTRINSIC
low complexity region 511 568 N/A INTRINSIC
low complexity region 623 633 N/A INTRINSIC
low complexity region 666 684 N/A INTRINSIC
S_TKc 723 1016 1.49e-95 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107538
AA Change: M142R

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103162
Gene: ENSMUSG00000003119
AA Change: M142R

DomainStartEndE-ValueType
low complexity region 8 32 N/A INTRINSIC
low complexity region 40 51 N/A INTRINSIC
low complexity region 74 92 N/A INTRINSIC
low complexity region 103 123 N/A INTRINSIC
low complexity region 124 135 N/A INTRINSIC
low complexity region 166 177 N/A INTRINSIC
low complexity region 214 227 N/A INTRINSIC
low complexity region 286 384 N/A INTRINSIC
low complexity region 511 568 N/A INTRINSIC
low complexity region 623 633 N/A INTRINSIC
low complexity region 666 684 N/A INTRINSIC
S_TKc 723 1016 1.49e-95 SMART
low complexity region 1252 1276 N/A INTRINSIC
low complexity region 1467 1483 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107539
AA Change: M142R

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103163
Gene: ENSMUSG00000003119
AA Change: M142R

DomainStartEndE-ValueType
low complexity region 8 32 N/A INTRINSIC
low complexity region 40 51 N/A INTRINSIC
low complexity region 74 92 N/A INTRINSIC
low complexity region 103 123 N/A INTRINSIC
low complexity region 124 135 N/A INTRINSIC
low complexity region 166 177 N/A INTRINSIC
low complexity region 214 227 N/A INTRINSIC
low complexity region 286 384 N/A INTRINSIC
low complexity region 511 568 N/A INTRINSIC
low complexity region 623 633 N/A INTRINSIC
low complexity region 666 684 N/A INTRINSIC
S_TKc 723 1016 1.49e-95 SMART
low complexity region 1253 1267 N/A INTRINSIC
low complexity region 1458 1474 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality between implantation and E6.5 with decreased proliferation and increased apoptosis in the inner cell mass. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T A 5: 121,768,267 (GRCm39) N763I probably damaging Het
Actr8 T C 14: 29,709,239 (GRCm39) V281A probably damaging Het
Adam1b A T 5: 121,639,811 (GRCm39) N411K probably damaging Het
Adamdec1 T A 14: 68,816,657 (GRCm39) Q77L probably damaging Het
Adgre4 T A 17: 56,085,878 (GRCm39) F59Y possibly damaging Het
Akr1c18 T C 13: 4,192,163 (GRCm39) N178S probably benign Het
Aldh1a7 T A 19: 20,677,320 (GRCm39) T434S probably benign Het
Bcl10 T A 3: 145,638,785 (GRCm39) N142K probably benign Het
C1qc T C 4: 136,617,402 (GRCm39) I231M probably benign Het
Cacna1b A T 2: 24,496,649 (GRCm39) L2307* probably null Het
Cadm2 G A 16: 66,612,271 (GRCm39) S106L probably damaging Het
Cdc42bpa G A 1: 179,977,742 (GRCm39) R1518Q possibly damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cspg4b C T 13: 113,455,121 (GRCm39) T389I probably benign Het
Cyp2c50 C G 19: 40,078,764 (GRCm39) H90D probably benign Het
Dach1 A G 14: 98,138,847 (GRCm39) M480T probably benign Het
Dennd1a A T 2: 37,734,795 (GRCm39) F57L probably damaging Het
Dhcr24 T C 4: 106,443,029 (GRCm39) F355L probably benign Het
Drc1 A G 5: 30,512,609 (GRCm39) R339G probably damaging Het
Efcab3 T A 11: 104,624,490 (GRCm39) S840R probably damaging Het
Efna5 A T 17: 63,188,023 (GRCm39) Y35N probably benign Het
Ehmt1 A G 2: 24,705,753 (GRCm39) V811A probably damaging Het
Fam135a A T 1: 24,061,045 (GRCm39) V1114E probably damaging Het
Frmd8 C A 19: 5,924,740 (GRCm39) R28L probably damaging Het
Gm9936 A G 5: 114,995,605 (GRCm39) probably benign Het
Hgsnat C T 8: 26,435,280 (GRCm39) W618* probably null Het
Itgal T C 7: 126,913,268 (GRCm39) F622L probably damaging Het
Kalrn C T 16: 34,130,865 (GRCm39) E451K probably damaging Het
Kat2a A T 11: 100,601,648 (GRCm39) F256I probably damaging Het
Lama4 A T 10: 38,951,354 (GRCm39) D1033V possibly damaging Het
Lama4 T A 10: 38,982,043 (GRCm39) D1757E probably damaging Het
Laptm5 T C 4: 130,659,358 (GRCm39) Y212H probably damaging Het
Lsm10 T C 4: 125,991,716 (GRCm39) L24P probably damaging Het
Mtcl3 A T 10: 29,022,761 (GRCm39) Q36L possibly damaging Het
Mtfp1 T C 11: 4,044,504 (GRCm39) E27G probably damaging Het
Ncaph2 C A 15: 89,254,678 (GRCm39) D399E probably benign Het
Ncor2 T C 5: 125,105,864 (GRCm39) probably null Het
Nek9 A C 12: 85,379,320 (GRCm39) Y195* probably null Het
Npas1 T C 7: 16,208,628 (GRCm39) D83G probably damaging Het
Nrsn2 A T 2: 152,211,741 (GRCm39) F97I possibly damaging Het
Oas1c T C 5: 120,943,503 (GRCm39) N10S probably benign Het
Or2ag12 A G 7: 106,276,874 (GRCm39) I273T probably benign Het
Or55b10 T C 7: 102,143,106 (GRCm39) N292S probably damaging Het
Or7e165 T A 9: 19,695,305 (GRCm39) L292Q probably damaging Het
Pcdha4 A T 18: 37,086,665 (GRCm39) T283S probably benign Het
Pdk1 A C 2: 71,703,904 (GRCm39) D64A possibly damaging Het
Pramel17 T C 4: 101,694,443 (GRCm39) T147A probably benign Het
Ptpdc1 C T 13: 48,739,539 (GRCm39) A631T probably benign Het
Rasal2 G T 1: 156,988,870 (GRCm39) A660E possibly damaging Het
Sgpp2 T A 1: 78,336,787 (GRCm39) V55E possibly damaging Het
Shank2 A T 7: 143,622,507 (GRCm39) I214F probably damaging Het
Slfn14 T C 11: 83,174,433 (GRCm39) N186S probably benign Het
Sptbn5 A T 2: 119,879,121 (GRCm39) noncoding transcript Het
Stradb C T 1: 59,027,743 (GRCm39) T91I probably damaging Het
Sulf2 T C 2: 165,927,721 (GRCm39) I359V probably benign Het
Tbl3 A T 17: 24,922,290 (GRCm39) M405K possibly damaging Het
Tecta G T 9: 42,243,848 (GRCm39) D2001E probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tgfbi T A 13: 56,786,521 (GRCm39) probably null Het
Tmem132a A T 19: 10,837,106 (GRCm39) L612Q probably null Het
Tnf T C 17: 35,419,476 (GRCm39) N102S probably damaging Het
Trib3 A T 2: 152,185,156 (GRCm39) V31D probably benign Het
Ube2q2 T A 9: 55,099,140 (GRCm39) F248L probably benign Het
Usf3 T C 16: 44,036,744 (GRCm39) V408A probably benign Het
Vmn1r159 T C 7: 22,542,307 (GRCm39) M242V probably benign Het
Vmn2r105 A T 17: 20,447,585 (GRCm39) L413H probably damaging Het
Zbtb2 T G 10: 4,318,673 (GRCm39) N451T probably damaging Het
Zfp593 C A 4: 133,972,869 (GRCm39) probably benign Het
Other mutations in Cdk12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Cdk12 APN 11 98,136,214 (GRCm39) missense unknown
IGL00718:Cdk12 APN 11 98,140,502 (GRCm39) intron probably benign
IGL00850:Cdk12 APN 11 98,113,491 (GRCm39) missense unknown
IGL01299:Cdk12 APN 11 98,101,272 (GRCm39) missense unknown
IGL01443:Cdk12 APN 11 98,136,295 (GRCm39) missense unknown
IGL01597:Cdk12 APN 11 98,141,090 (GRCm39) unclassified probably benign
capsized UTSW 11 98,132,611 (GRCm39) missense unknown
Listing UTSW 11 98,115,293 (GRCm39) nonsense probably null
Torpedoed UTSW 11 98,111,928 (GRCm39) missense unknown
R0124:Cdk12 UTSW 11 98,102,073 (GRCm39) splice site probably benign
R0157:Cdk12 UTSW 11 98,140,602 (GRCm39) unclassified probably benign
R0190:Cdk12 UTSW 11 98,132,657 (GRCm39) critical splice donor site probably null
R0230:Cdk12 UTSW 11 98,094,817 (GRCm39) missense probably damaging 1.00
R0467:Cdk12 UTSW 11 98,094,405 (GRCm39) missense probably damaging 0.99
R0577:Cdk12 UTSW 11 98,094,332 (GRCm39) missense probably damaging 0.99
R0671:Cdk12 UTSW 11 98,120,935 (GRCm39) splice site probably benign
R0834:Cdk12 UTSW 11 98,095,211 (GRCm39) missense probably benign 0.23
R1129:Cdk12 UTSW 11 98,136,201 (GRCm39) missense unknown
R1337:Cdk12 UTSW 11 98,136,497 (GRCm39) critical splice donor site probably null
R1344:Cdk12 UTSW 11 98,132,611 (GRCm39) missense unknown
R1418:Cdk12 UTSW 11 98,132,611 (GRCm39) missense unknown
R1729:Cdk12 UTSW 11 98,140,796 (GRCm39) unclassified probably benign
R1756:Cdk12 UTSW 11 98,132,587 (GRCm39) nonsense probably null
R1784:Cdk12 UTSW 11 98,140,796 (GRCm39) unclassified probably benign
R1807:Cdk12 UTSW 11 98,101,203 (GRCm39) missense unknown
R1956:Cdk12 UTSW 11 98,110,042 (GRCm39) missense probably benign 0.23
R1966:Cdk12 UTSW 11 98,094,916 (GRCm39) nonsense probably null
R2202:Cdk12 UTSW 11 98,101,464 (GRCm39) missense unknown
R2422:Cdk12 UTSW 11 98,109,900 (GRCm39) missense probably benign 0.23
R4574:Cdk12 UTSW 11 98,111,814 (GRCm39) intron probably benign
R4614:Cdk12 UTSW 11 98,140,603 (GRCm39) unclassified probably benign
R4882:Cdk12 UTSW 11 98,101,272 (GRCm39) missense unknown
R4921:Cdk12 UTSW 11 98,113,513 (GRCm39) missense unknown
R5151:Cdk12 UTSW 11 98,140,749 (GRCm39) unclassified probably benign
R5252:Cdk12 UTSW 11 98,134,335 (GRCm39) missense unknown
R5348:Cdk12 UTSW 11 98,095,118 (GRCm39) missense probably benign 0.23
R5620:Cdk12 UTSW 11 98,101,809 (GRCm39) missense unknown
R5779:Cdk12 UTSW 11 98,109,900 (GRCm39) missense probably benign 0.23
R6085:Cdk12 UTSW 11 98,134,255 (GRCm39) missense unknown
R6293:Cdk12 UTSW 11 98,115,379 (GRCm39) missense unknown
R6371:Cdk12 UTSW 11 98,136,114 (GRCm39) missense unknown
R6438:Cdk12 UTSW 11 98,115,293 (GRCm39) nonsense probably null
R6765:Cdk12 UTSW 11 98,115,355 (GRCm39) missense unknown
R6958:Cdk12 UTSW 11 98,132,525 (GRCm39) missense unknown
R7205:Cdk12 UTSW 11 98,115,451 (GRCm39) missense unknown
R7307:Cdk12 UTSW 11 98,140,626 (GRCm39) nonsense probably null
R7361:Cdk12 UTSW 11 98,101,294 (GRCm39) nonsense probably null
R7365:Cdk12 UTSW 11 98,111,910 (GRCm39) missense unknown
R7447:Cdk12 UTSW 11 98,136,106 (GRCm39) missense unknown
R7514:Cdk12 UTSW 11 98,113,484 (GRCm39) missense unknown
R7831:Cdk12 UTSW 11 98,140,653 (GRCm39) missense unknown
R7877:Cdk12 UTSW 11 98,131,661 (GRCm39) missense unknown
R7975:Cdk12 UTSW 11 98,111,928 (GRCm39) missense unknown
R8507:Cdk12 UTSW 11 98,141,111 (GRCm39) missense unknown
R8558:Cdk12 UTSW 11 98,101,915 (GRCm39) missense unknown
R8693:Cdk12 UTSW 11 98,141,133 (GRCm39) missense unknown
R9250:Cdk12 UTSW 11 98,101,398 (GRCm39) missense probably benign 0.23
R9517:Cdk12 UTSW 11 98,109,910 (GRCm39) missense unknown
R9562:Cdk12 UTSW 11 98,140,628 (GRCm39) missense unknown
R9565:Cdk12 UTSW 11 98,140,628 (GRCm39) missense unknown
R9792:Cdk12 UTSW 11 98,102,051 (GRCm39) missense unknown
R9793:Cdk12 UTSW 11 98,102,051 (GRCm39) missense unknown
R9795:Cdk12 UTSW 11 98,102,051 (GRCm39) missense unknown
Z1176:Cdk12 UTSW 11 98,094,767 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACGGCCTTCAAATCAGACCG -3'
(R):5'- TGGATCTCCGTTTAGGGCTAGC -3'

Sequencing Primer
(F):5'- CGGAGGGAGAACGAGGAAC -3'
(R):5'- GCTAGCCACGGTTTTGTAAC -3'
Posted On 2014-12-04