Incidental Mutation 'R0502:Ccar2'
ID 47223
Institutional Source Beutler Lab
Gene Symbol Ccar2
Ensembl Gene ENSMUSG00000033712
Gene Name cell cycle activator and apoptosis regulator 2
Synonyms Dbc1, 2610301G19Rik
MMRRC Submission 038697-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.528) question?
Stock # R0502 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 70375613-70391260 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70378431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 625 (S625P)
Ref Sequence ENSEMBL: ENSMUSP00000036924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022680] [ENSMUST00000035612]
AlphaFold Q8VDP4
Predicted Effect probably benign
Transcript: ENSMUST00000022680
SMART Domains Protein: ENSMUSP00000022680
Gene: ENSMUSG00000022089

DomainStartEndE-ValueType
BAR 5 225 2.05e-55 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000035612
AA Change: S625P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000036924
Gene: ENSMUSG00000033712
AA Change: S625P

DomainStartEndE-ValueType
low complexity region 23 37 N/A INTRINSIC
Pfam:S1-like 55 112 1.3e-29 PFAM
DBC1 339 462 8.48e-73 SMART
low complexity region 496 507 N/A INTRINSIC
low complexity region 534 545 N/A INTRINSIC
low complexity region 563 601 N/A INTRINSIC
low complexity region 627 640 N/A INTRINSIC
low complexity region 647 660 N/A INTRINSIC
SCOP:d2mysb_ 703 747 2e-3 SMART
Blast:HDc 704 758 7e-7 BLAST
coiled coil region 828 898 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227589
Meta Mutation Damage Score 0.0604 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (63/63)
MGI Phenotype PHENOTYPE: Homozygous null mice on a high fat diet are resistant to hepatic steatosis and associated liver inflammation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,838,322 (GRCm39) H755R possibly damaging Het
Ano1 A G 7: 144,150,952 (GRCm39) L821P probably damaging Het
Apol10b T A 15: 77,476,349 (GRCm39) probably benign Het
Atp2c2 A G 8: 120,461,316 (GRCm39) E279G probably null Het
Ccdc110 A G 8: 46,387,761 (GRCm39) probably benign Het
Cep350 A T 1: 155,776,629 (GRCm39) probably null Het
Chd3 A G 11: 69,244,931 (GRCm39) V1203A probably damaging Het
Col24a1 A G 3: 145,251,071 (GRCm39) probably benign Het
Col6a6 A T 9: 105,644,550 (GRCm39) M1246K probably benign Het
Crot A G 5: 9,026,075 (GRCm39) V304A possibly damaging Het
Dapk1 T A 13: 60,878,662 (GRCm39) probably null Het
Dicer1 A T 12: 104,671,319 (GRCm39) S984T probably damaging Het
Dmbt1 G A 7: 130,699,403 (GRCm39) probably null Het
Dnah7b A T 1: 46,258,704 (GRCm39) E1965V probably damaging Het
Dpp4 G T 2: 62,195,332 (GRCm39) N315K probably damaging Het
Eeig2 G A 3: 108,900,001 (GRCm39) R116C probably damaging Het
Fat4 T A 3: 39,057,073 (GRCm39) S4256R probably damaging Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Gpatch4 A G 3: 87,962,672 (GRCm39) D295G probably benign Het
Gpbar1 A T 1: 74,318,551 (GRCm39) I265F probably benign Het
Gria1 T G 11: 57,080,542 (GRCm39) V175G probably damaging Het
Hacl1 A T 14: 31,344,941 (GRCm39) probably benign Het
Hnrnpc A G 14: 52,312,629 (GRCm39) probably benign Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Ifnar1 T A 16: 91,298,639 (GRCm39) C419S probably damaging Het
Irx4 T A 13: 73,414,703 (GRCm39) probably null Het
Itga2 T G 13: 114,982,392 (GRCm39) N1038H probably benign Het
Kif16b C T 2: 142,554,075 (GRCm39) D908N probably benign Het
Lamc1 A G 1: 153,122,678 (GRCm39) probably benign Het
Lrig3 A G 10: 125,844,605 (GRCm39) T690A probably damaging Het
Lrp2 T C 2: 69,341,361 (GRCm39) K940E probably damaging Het
Macf1 A G 4: 123,363,608 (GRCm39) S1775P probably damaging Het
Mrps27 G T 13: 99,546,303 (GRCm39) probably benign Het
Ncam1 A G 9: 49,481,118 (GRCm39) probably benign Het
Nopchap1 A G 10: 83,197,920 (GRCm39) D42G probably damaging Het
Or2z2 T C 11: 58,346,140 (GRCm39) I212V possibly damaging Het
Or51a5 A T 7: 102,771,643 (GRCm39) M112K possibly damaging Het
Pbrm1 T G 14: 30,786,777 (GRCm39) D631E probably benign Het
Pdc A T 1: 150,204,165 (GRCm39) probably benign Het
Pkd1 T C 17: 24,793,766 (GRCm39) S1818P probably damaging Het
Ptpru T C 4: 131,520,954 (GRCm39) N784S probably benign Het
Rab35 G A 5: 115,783,723 (GRCm39) R170Q probably benign Het
Rerg A T 6: 137,033,305 (GRCm39) C123* probably null Het
Ros1 A G 10: 52,070,919 (GRCm39) probably benign Het
Siglece A G 7: 43,309,355 (GRCm39) Y68H probably damaging Het
Slc28a2 T A 2: 122,288,762 (GRCm39) probably null Het
Slc4a11 T C 2: 130,530,077 (GRCm39) K234E probably damaging Het
Sqor C T 2: 122,639,970 (GRCm39) P158S probably benign Het
Tcerg1 C T 18: 42,656,021 (GRCm39) P110S unknown Het
Tm6sf2 T A 8: 70,530,591 (GRCm39) Y224N probably damaging Het
Tmem39b A C 4: 129,580,779 (GRCm39) Y238D possibly damaging Het
Ttll10 T C 4: 156,132,005 (GRCm39) probably benign Het
Ubap2l A T 3: 89,916,520 (GRCm39) L898Q probably damaging Het
Uggt1 A T 1: 36,199,027 (GRCm39) V1207E probably damaging Het
Uhrf2 A G 19: 30,070,176 (GRCm39) D775G probably damaging Het
Utp25 A T 1: 192,797,136 (GRCm39) probably benign Het
Vmn1r196 G A 13: 22,477,557 (GRCm39) M65I probably benign Het
Vmn1r87 T G 7: 12,865,583 (GRCm39) T235P probably damaging Het
Vmn2r96 T A 17: 18,804,262 (GRCm39) M504K probably benign Het
Zdbf2 A T 1: 63,344,449 (GRCm39) I943F possibly damaging Het
Zfp78 A G 7: 6,376,157 (GRCm39) D22G probably damaging Het
Zfp827 C T 8: 79,905,706 (GRCm39) probably null Het
Zfyve9 A T 4: 108,576,961 (GRCm39) L40* probably null Het
Other mutations in Ccar2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Ccar2 APN 14 70,379,980 (GRCm39) nonsense probably null
IGL01351:Ccar2 APN 14 70,383,311 (GRCm39) missense probably benign 0.03
IGL01450:Ccar2 APN 14 70,377,200 (GRCm39) splice site probably benign
IGL02306:Ccar2 APN 14 70,379,471 (GRCm39) missense probably benign 0.01
IGL03403:Ccar2 APN 14 70,377,517 (GRCm39) missense probably damaging 1.00
R0332:Ccar2 UTSW 14 70,379,384 (GRCm39) splice site probably benign
R0827:Ccar2 UTSW 14 70,377,287 (GRCm39) missense probably benign 0.00
R1022:Ccar2 UTSW 14 70,377,964 (GRCm39) missense probably damaging 1.00
R1024:Ccar2 UTSW 14 70,377,964 (GRCm39) missense probably damaging 1.00
R1160:Ccar2 UTSW 14 70,377,218 (GRCm39) missense probably benign 0.42
R1258:Ccar2 UTSW 14 70,390,122 (GRCm39) missense probably benign 0.24
R1389:Ccar2 UTSW 14 70,377,558 (GRCm39) missense possibly damaging 0.46
R1532:Ccar2 UTSW 14 70,380,405 (GRCm39) missense probably benign 0.01
R1870:Ccar2 UTSW 14 70,377,946 (GRCm39) missense probably damaging 1.00
R2127:Ccar2 UTSW 14 70,377,100 (GRCm39) missense probably benign 0.33
R4233:Ccar2 UTSW 14 70,388,540 (GRCm39) missense possibly damaging 0.76
R4569:Ccar2 UTSW 14 70,389,359 (GRCm39) splice site probably null
R4799:Ccar2 UTSW 14 70,377,003 (GRCm39) missense probably damaging 0.99
R5026:Ccar2 UTSW 14 70,379,951 (GRCm39) missense possibly damaging 0.89
R5435:Ccar2 UTSW 14 70,376,776 (GRCm39) missense probably damaging 1.00
R5893:Ccar2 UTSW 14 70,388,800 (GRCm39) missense probably benign 0.28
R6446:Ccar2 UTSW 14 70,380,518 (GRCm39) missense probably benign 0.31
R6594:Ccar2 UTSW 14 70,377,925 (GRCm39) missense probably damaging 1.00
R6648:Ccar2 UTSW 14 70,376,674 (GRCm39) missense probably benign 0.29
R7103:Ccar2 UTSW 14 70,379,426 (GRCm39) missense probably damaging 0.99
R7594:Ccar2 UTSW 14 70,379,243 (GRCm39) nonsense probably null
R7679:Ccar2 UTSW 14 70,376,684 (GRCm39) nonsense probably null
R7975:Ccar2 UTSW 14 70,380,918 (GRCm39) missense possibly damaging 0.51
R8071:Ccar2 UTSW 14 70,389,902 (GRCm39) missense probably benign 0.26
R9360:Ccar2 UTSW 14 70,379,445 (GRCm39) missense probably damaging 1.00
R9574:Ccar2 UTSW 14 70,381,105 (GRCm39) missense probably benign 0.01
R9631:Ccar2 UTSW 14 70,389,344 (GRCm39) missense probably damaging 1.00
R9705:Ccar2 UTSW 14 70,380,383 (GRCm39) missense probably damaging 1.00
R9749:Ccar2 UTSW 14 70,388,728 (GRCm39) missense probably benign 0.28
V5088:Ccar2 UTSW 14 70,388,738 (GRCm39) missense probably damaging 0.99
V5622:Ccar2 UTSW 14 70,388,738 (GRCm39) missense probably damaging 0.99
V5622:Ccar2 UTSW 14 70,388,738 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCTTAAGAGGAAGCTACCACAGCC -3'
(R):5'- GCGAGGGAAGTGTGTCTAATAAGCC -3'

Sequencing Primer
(F):5'- CAGCCCCTGAGAGCCAC -3'
(R):5'- GTGTACAACTAAGACTGACTCCTGAG -3'
Posted On 2013-06-12