Incidental Mutation 'R0833:Ccnt2'
ID 77601
Institutional Source Beutler Lab
Gene Symbol Ccnt2
Ensembl Gene ENSMUSG00000026349
Gene Name cyclin T2
Synonyms 2900041I18Rik, CycT2
MMRRC Submission 039012-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0833 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 127701901-127732574 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127730131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 336 (M336K)
Ref Sequence ENSEMBL: ENSMUSP00000108189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027587] [ENSMUST00000112570]
AlphaFold Q7TQK0
Predicted Effect probably benign
Transcript: ENSMUST00000027587
AA Change: M336K

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000027587
Gene: ENSMUSG00000026349
AA Change: M336K

DomainStartEndE-ValueType
CYCLIN 42 141 4.27e-14 SMART
CYCLIN 154 242 4.51e0 SMART
low complexity region 531 543 N/A INTRINSIC
low complexity region 621 653 N/A INTRINSIC
low complexity region 658 664 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112570
AA Change: M336K

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000108189
Gene: ENSMUSG00000026349
AA Change: M336K

DomainStartEndE-ValueType
CYCLIN 42 141 4.27e-14 SMART
CYCLIN 154 242 4.51e0 SMART
low complexity region 531 543 N/A INTRINSIC
low complexity region 621 634 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153359
Meta Mutation Damage Score 0.0854 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.6%
Validation Efficiency 100% (97/97)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin and its kinase partner CDK9 were found to be subunits of the transcription elongation factor p-TEFb. The p-TEFb complex containing this cyclin was reported to interact with, and act as a negative regulator of human immunodeficiency virus type 1 (HIV-1) Tat protein. A pseudogene of this gene is found on chromosome 1. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a gene trap allele die prior to the 4-cell stage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,000,931 (GRCm39) L41P probably damaging Het
3110082I17Rik A G 5: 139,349,875 (GRCm39) V58A possibly damaging Het
4932415M13Rik A T 17: 54,031,374 (GRCm39) noncoding transcript Het
Aldh1a7 C T 19: 20,679,607 (GRCm39) V390M probably damaging Het
Alg14 A G 3: 121,092,259 (GRCm39) H34R probably damaging Het
Ankrd27 A G 7: 35,307,772 (GRCm39) N337S probably damaging Het
Apoa2 T A 1: 171,052,948 (GRCm39) probably benign Het
Arl2 T G 19: 6,186,052 (GRCm39) K126T probably damaging Het
Ascc3 T C 10: 50,721,762 (GRCm39) W2072R probably benign Het
Astl T C 2: 127,184,339 (GRCm39) F21L probably benign Het
Asxl3 A G 18: 22,649,097 (GRCm39) D362G probably damaging Het
Bdp1 A T 13: 100,172,333 (GRCm39) H2094Q probably benign Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Ccdc85a T A 11: 28,533,296 (GRCm39) I83F probably damaging Het
Cd226 A C 18: 89,225,144 (GRCm39) probably benign Het
Ceacam23 C A 7: 17,638,906 (GRCm39) A301E possibly damaging Het
Ces1f A T 8: 93,996,652 (GRCm39) S214T probably damaging Het
Clip1 T C 5: 123,768,784 (GRCm39) D605G probably benign Het
Col26a1 A G 5: 136,794,154 (GRCm39) probably null Het
Crtc1 A G 8: 70,845,663 (GRCm39) V306A probably benign Het
D130043K22Rik G A 13: 25,047,563 (GRCm39) probably benign Het
D17H6S53E A T 17: 35,346,385 (GRCm39) probably null Het
Dnah11 G A 12: 118,160,397 (GRCm39) A111V probably benign Het
Dyrk2 T C 10: 118,697,027 (GRCm39) H77R probably benign Het
Epha3 A G 16: 63,423,882 (GRCm39) probably benign Het
Epn2 T C 11: 61,410,317 (GRCm39) N611S probably benign Het
Erich6 A C 3: 58,526,365 (GRCm39) probably benign Het
Fam217b T C 2: 178,062,782 (GRCm39) S249P probably benign Het
Fam219b A G 9: 57,445,299 (GRCm39) probably benign Het
Fryl A T 5: 73,246,424 (GRCm39) probably benign Het
Ftdc2 G A 16: 58,455,886 (GRCm39) S129L probably damaging Het
Gm14496 T C 2: 181,638,059 (GRCm39) W378R probably damaging Het
Gm57858 A G 3: 36,074,362 (GRCm39) probably benign Het
Gm8674 A T 13: 50,058,611 (GRCm39) noncoding transcript Het
Grap T A 11: 61,551,065 (GRCm39) D32E possibly damaging Het
Grk2 C A 19: 4,339,385 (GRCm39) L428F probably damaging Het
Grm8 T A 6: 27,363,178 (GRCm39) E779V probably damaging Het
Hipk1 A G 3: 103,661,612 (GRCm39) S670P probably damaging Het
Ilrun A T 17: 28,005,112 (GRCm39) S148R probably damaging Het
Itgae A T 11: 73,020,032 (GRCm39) M845L probably benign Het
Itih1 A T 14: 30,663,512 (GRCm39) V164E probably damaging Het
Itpka T A 2: 119,581,312 (GRCm39) N448K probably damaging Het
Jak3 A C 8: 72,136,622 (GRCm39) N643T probably damaging Het
Lrfn5 A C 12: 61,886,454 (GRCm39) T81P probably damaging Het
Lrrc45 T A 11: 120,609,019 (GRCm39) probably null Het
Marchf6 T C 15: 31,480,437 (GRCm39) Y562C probably benign Het
Mcrs1 T C 15: 99,141,330 (GRCm39) probably benign Het
Meis1 G A 11: 18,831,767 (GRCm39) H424Y possibly damaging Het
Mst1r A G 9: 107,791,975 (GRCm39) N837S probably benign Het
Mst1r G A 9: 107,790,366 (GRCm39) V660I probably benign Het
Mthfd2l T C 5: 91,094,801 (GRCm39) V90A probably damaging Het
Mtnr1a A T 8: 45,540,974 (GRCm39) I312F probably benign Het
Or10g3b T C 14: 52,586,835 (GRCm39) I223V probably benign Het
Or51g1 C A 7: 102,634,043 (GRCm39) L109F possibly damaging Het
Or8b12b T C 9: 37,684,372 (GRCm39) V139A probably benign Het
Otog C T 7: 45,918,786 (GRCm39) T954I possibly damaging Het
Pdcd6 A G 13: 74,464,443 (GRCm39) probably benign Het
Phlpp2 A G 8: 110,663,738 (GRCm39) T926A probably damaging Het
Plec GGCAGCAG GGCAGCAGCAG 15: 76,066,107 (GRCm39) probably benign Het
Plekha5 T A 6: 140,535,360 (GRCm39) probably benign Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Pramel18 G A 4: 101,767,294 (GRCm39) C181Y probably damaging Het
Pramel23 A T 4: 143,425,056 (GRCm39) M129K probably benign Het
Rab27b T C 18: 70,120,112 (GRCm39) probably benign Het
Rapsn T C 2: 90,867,153 (GRCm39) Y152H probably damaging Het
Rasd1 A T 11: 59,855,379 (GRCm39) F85I probably damaging Het
Rgs1 A T 1: 144,123,671 (GRCm39) S85T probably damaging Het
Samd9l T C 6: 3,372,725 (GRCm39) E1512G possibly damaging Het
Sgsm1 C T 5: 113,427,050 (GRCm39) A127T probably benign Het
Shc1 A G 3: 89,330,276 (GRCm39) D70G probably damaging Het
Slc26a1 T A 5: 108,821,389 (GRCm39) T167S probably benign Het
Slc26a7 A T 4: 14,593,873 (GRCm39) Y81N probably damaging Het
Slc2a12 T C 10: 22,577,915 (GRCm39) probably benign Het
Slc30a7 T A 3: 115,783,789 (GRCm39) probably null Het
Slc44a5 T C 3: 153,971,111 (GRCm39) S654P probably damaging Het
Stard9 T G 2: 120,527,480 (GRCm39) S1246A possibly damaging Het
Stxbp5 A T 10: 9,740,843 (GRCm39) S116R probably damaging Het
Syvn1 C T 19: 6,102,483 (GRCm39) P517L probably benign Het
Tas2r105 T C 6: 131,664,393 (GRCm39) I12V probably benign Het
Tas2r121 A G 6: 132,677,325 (GRCm39) S216P probably damaging Het
Tcof1 T C 18: 60,978,904 (GRCm39) D48G probably damaging Het
Tgm3 C T 2: 129,868,602 (GRCm39) probably benign Het
Tle2 T C 10: 81,424,781 (GRCm39) F667L probably damaging Het
Tnfaip3 C A 10: 18,878,697 (GRCm39) A704S probably benign Het
Trabd2b A G 4: 114,437,519 (GRCm39) Q232R probably benign Het
Ttc28 T A 5: 111,378,947 (GRCm39) I1144N probably damaging Het
Ucp3 T A 7: 100,128,748 (GRCm39) C25* probably null Het
Ugt3a1 A G 15: 9,370,236 (GRCm39) D460G probably damaging Het
Urb1 T C 16: 90,592,336 (GRCm39) D308G possibly damaging Het
Ush1g G T 11: 115,209,694 (GRCm39) R167S possibly damaging Het
Vav3 A G 3: 109,554,995 (GRCm39) N81S possibly damaging Het
Vmn2r108 A T 17: 20,691,721 (GRCm39) D267E probably benign Het
Zng1 A G 19: 24,918,203 (GRCm39) probably benign Het
Other mutations in Ccnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00807:Ccnt2 APN 1 127,725,628 (GRCm39) splice site probably benign
IGL01370:Ccnt2 APN 1 127,731,250 (GRCm39) missense possibly damaging 0.49
IGL02055:Ccnt2 APN 1 127,719,447 (GRCm39) missense possibly damaging 0.46
IGL02169:Ccnt2 APN 1 127,702,126 (GRCm39) splice site probably benign
R0526:Ccnt2 UTSW 1 127,727,182 (GRCm39) missense probably damaging 1.00
R0538:Ccnt2 UTSW 1 127,730,902 (GRCm39) missense probably damaging 0.98
R0744:Ccnt2 UTSW 1 127,730,131 (GRCm39) missense probably benign 0.42
R0836:Ccnt2 UTSW 1 127,730,131 (GRCm39) missense probably benign 0.42
R1763:Ccnt2 UTSW 1 127,727,143 (GRCm39) missense possibly damaging 0.94
R2037:Ccnt2 UTSW 1 127,731,136 (GRCm39) missense probably damaging 1.00
R2159:Ccnt2 UTSW 1 127,702,891 (GRCm39) missense probably benign 0.00
R4585:Ccnt2 UTSW 1 127,730,766 (GRCm39) missense probably damaging 0.99
R5342:Ccnt2 UTSW 1 127,719,470 (GRCm39) splice site silent
R5527:Ccnt2 UTSW 1 127,730,401 (GRCm39) missense probably benign 0.00
R5698:Ccnt2 UTSW 1 127,730,965 (GRCm39) missense probably benign 0.00
R6606:Ccnt2 UTSW 1 127,730,978 (GRCm39) missense probably benign 0.00
R6821:Ccnt2 UTSW 1 127,731,072 (GRCm39) missense probably damaging 0.99
R6979:Ccnt2 UTSW 1 127,702,873 (GRCm39) missense probably damaging 0.97
R7512:Ccnt2 UTSW 1 127,730,031 (GRCm39) missense possibly damaging 0.85
R8743:Ccnt2 UTSW 1 127,702,020 (GRCm39) missense probably damaging 1.00
R9334:Ccnt2 UTSW 1 127,723,046 (GRCm39) missense probably damaging 0.99
R9722:Ccnt2 UTSW 1 127,729,925 (GRCm39) missense probably damaging 1.00
X0019:Ccnt2 UTSW 1 127,702,877 (GRCm39) missense probably damaging 1.00
X0027:Ccnt2 UTSW 1 127,702,025 (GRCm39) missense probably damaging 0.98
Z1177:Ccnt2 UTSW 1 127,730,795 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGAGACACCACTGCTTGGTTCATC -3'
(R):5'- AAGGGTTTCCAGCTTCCGCTTC -3'

Sequencing Primer
(F):5'- CACTGCTTGGTTCATCTTTGG -3'
(R):5'- GAATGATCAGCAACTTTGTCCG -3'
Posted On 2013-10-16