Incidental Mutation 'R2082:Cdk9'
ID 230055
Institutional Source Beutler Lab
Gene Symbol Cdk9
Ensembl Gene ENSMUSG00000009555
Gene Name cyclin dependent kinase 9
Synonyms PITALRE
MMRRC Submission 040087-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2082 (G1)
Quality Score 183
Status Not validated
Chromosome 2
Chromosomal Location 32595796-32603088 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32599513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 189 (L189P)
Ref Sequence ENSEMBL: ENSMUSP00000113327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009699] [ENSMUST00000120105] [ENSMUST00000123170] [ENSMUST00000155205] [ENSMUST00000154131]
AlphaFold Q99J95
Predicted Effect probably damaging
Transcript: ENSMUST00000009699
AA Change: L240P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000009699
Gene: ENSMUSG00000009555
AA Change: L240P

DomainStartEndE-ValueType
S_TKc 19 315 9.28e-92 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120105
AA Change: L189P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113327
Gene: ENSMUSG00000009555
AA Change: L189P

DomainStartEndE-ValueType
Pfam:Pkinase 1 264 9.8e-58 PFAM
Pfam:Pkinase_Tyr 2 215 1.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125058
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128265
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130399
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175539
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198213
Predicted Effect probably benign
Transcript: ENSMUST00000155205
SMART Domains Protein: ENSMUSP00000115299
Gene: ENSMUSG00000009555

DomainStartEndE-ValueType
Pfam:Pkinase 1 54 8.4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154131
SMART Domains Protein: ENSMUSP00000120857
Gene: ENSMUSG00000009555

DomainStartEndE-ValueType
Pfam:Pkinase 19 61 8.6e-10 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and known as important cell cycle regulators. This kinase was found to be a component of the multiprotein complex TAK/P-TEFb, which is an elongation factor for RNA polymerase II-directed transcription and functions by phosphorylating the C-terminal domain of the largest subunit of RNA polymerase II. This protein forms a complex with and is regulated by its regulatory subunit cyclin T or cyclin K. HIV-1 Tat protein was found to interact with this protein and cyclin T, which suggested a possible involvement of this protein in AIDS. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik T A 2: 30,686,391 (GRCm39) probably null Het
4933427I04Rik A G 4: 123,754,769 (GRCm39) I228V probably benign Het
Aco2 T C 15: 81,797,896 (GRCm39) W657R possibly damaging Het
Acsm2 T A 7: 119,179,857 (GRCm39) H333Q probably benign Het
Adamts18 C T 8: 114,501,965 (GRCm39) V299I probably damaging Het
Adat2 G A 10: 13,435,907 (GRCm39) C84Y probably damaging Het
Arhgef11 C T 3: 87,633,303 (GRCm39) T690I possibly damaging Het
Cachd1 A G 4: 100,860,155 (GRCm39) D1242G probably damaging Het
Casp14 A G 10: 78,550,867 (GRCm39) M106T probably benign Het
Ccdc69 T A 11: 54,943,215 (GRCm39) I130F probably damaging Het
Cfhr1 C T 1: 139,478,624 (GRCm39) V249I possibly damaging Het
Chst1 T C 2: 92,444,335 (GRCm39) V269A possibly damaging Het
Col18a1 G T 10: 76,895,127 (GRCm39) P1178Q probably damaging Het
Col6a1 A G 10: 76,545,430 (GRCm39) L1014P probably damaging Het
Crisp3 T C 17: 40,536,751 (GRCm39) Y188C probably damaging Het
Dse G A 10: 34,031,936 (GRCm39) R363C probably damaging Het
Exoc5 T C 14: 49,253,044 (GRCm39) I525V probably benign Het
Fech A T 18: 64,591,260 (GRCm39) I388N probably damaging Het
Fmnl1 T C 11: 103,082,851 (GRCm39) L363P probably damaging Het
Gm10842 T A 11: 105,037,909 (GRCm39) L64Q unknown Het
Gm8225 C A 17: 26,762,670 (GRCm39) P287Q possibly damaging Het
Hsp90aa1 A T 12: 110,659,261 (GRCm39) L512H probably damaging Het
Ifi30 T C 8: 71,216,373 (GRCm39) probably benign Het
Iqsec1 A T 6: 90,671,556 (GRCm39) D115E probably damaging Het
Kcnu1 T A 8: 26,411,577 (GRCm39) L174H probably damaging Het
Krt10 A G 11: 99,279,701 (GRCm39) V153A probably damaging Het
Krt18 G A 15: 101,939,455 (GRCm39) probably null Het
Micu1 A G 10: 59,699,129 (GRCm39) T469A probably benign Het
Mtss2 T C 8: 111,452,889 (GRCm39) probably null Het
Myo10 T A 15: 25,786,079 (GRCm39) F1253L probably damaging Het
N4bp2 A T 5: 65,964,908 (GRCm39) T986S probably damaging Het
Naip6 C A 13: 100,440,852 (GRCm39) probably null Het
Nphp4 G A 4: 152,643,821 (GRCm39) V1117M probably benign Het
Oca2 C A 7: 55,946,885 (GRCm39) Q305K probably benign Het
Or56b34 C T 7: 104,937,710 (GRCm39) Q137* probably null Het
Or5k3 T A 16: 58,969,248 (GRCm39) F12I probably damaging Het
Or7g27 G A 9: 19,250,574 (GRCm39) V273I probably benign Het
P2rx7 A T 5: 122,782,158 (GRCm39) N8Y possibly damaging Het
Pag1 A T 3: 9,764,545 (GRCm39) S203T probably damaging Het
Pfn4 T A 12: 4,825,439 (GRCm39) probably null Het
Pip4k2c T C 10: 127,034,958 (GRCm39) D414G probably damaging Het
Pkp1 T G 1: 135,812,714 (GRCm39) Q329P possibly damaging Het
Polrmt A T 10: 79,579,346 (GRCm39) I135N probably benign Het
Ppa2 G A 3: 133,076,178 (GRCm39) R269H probably benign Het
Ppp3cb T C 14: 20,558,746 (GRCm39) T439A possibly damaging Het
Prkdc A G 16: 15,533,827 (GRCm39) Y1555C probably damaging Het
Ptprh T C 7: 4,553,774 (GRCm39) D859G probably damaging Het
Sema5a T A 15: 32,619,002 (GRCm39) M510K probably benign Het
Slc22a16 A G 10: 40,461,335 (GRCm39) E379G probably benign Het
Slc30a5 C A 13: 100,943,041 (GRCm39) probably null Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tbc1d9 A T 8: 83,997,616 (GRCm39) S1058C probably damaging Het
Tet2 A G 3: 133,191,488 (GRCm39) L982P possibly damaging Het
Tmem101 G T 11: 102,044,203 (GRCm39) T228K probably benign Het
Tshz2 G T 2: 169,728,135 (GRCm39) K441N probably damaging Het
Upf1 A T 8: 70,794,222 (GRCm39) I228N probably damaging Het
Usp32 A T 11: 84,921,338 (GRCm39) I692N probably damaging Het
Vmn2r117 A G 17: 23,679,230 (GRCm39) S665P possibly damaging Het
Vps13b T C 15: 35,910,892 (GRCm39) V3552A possibly damaging Het
Vps35 A T 8: 85,990,094 (GRCm39) M638K possibly damaging Het
Vps41 T G 13: 19,036,521 (GRCm39) I645S probably benign Het
Zfp703 T C 8: 27,469,016 (GRCm39) S227P probably benign Het
Other mutations in Cdk9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01970:Cdk9 APN 2 32,598,063 (GRCm39) missense possibly damaging 0.77
R0321:Cdk9 UTSW 2 32,602,698 (GRCm39) unclassified probably benign
R0615:Cdk9 UTSW 2 32,599,813 (GRCm39) missense possibly damaging 0.92
R0624:Cdk9 UTSW 2 32,599,836 (GRCm39) missense probably damaging 1.00
R0661:Cdk9 UTSW 2 32,599,832 (GRCm39) missense probably damaging 1.00
R1525:Cdk9 UTSW 2 32,600,521 (GRCm39) missense probably damaging 0.97
R4416:Cdk9 UTSW 2 32,598,084 (GRCm39) missense probably damaging 1.00
R6047:Cdk9 UTSW 2 32,598,285 (GRCm39) splice site probably null
R7391:Cdk9 UTSW 2 32,602,083 (GRCm39) missense probably damaging 0.96
R8127:Cdk9 UTSW 2 32,598,009 (GRCm39) missense probably benign
R8792:Cdk9 UTSW 2 32,598,269 (GRCm39) missense probably benign 0.12
R9040:Cdk9 UTSW 2 32,597,999 (GRCm39) missense probably benign
R9231:Cdk9 UTSW 2 32,598,006 (GRCm39) missense probably benign 0.00
R9238:Cdk9 UTSW 2 32,598,273 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- TCGGCAACAGAGAGCTCATAC -3'
(R):5'- GTGCCTTCAGCCTAGCTAAG -3'

Sequencing Primer
(F):5'- CCTACAGAGTGAGTTCCAGGAC -3'
(R):5'- GTGCCTTCAGCCTAGCTAAGAATAG -3'
Posted On 2014-09-18