Incidental Mutation 'IGL01351:Ccar2'
ID 75359
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccar2
Ensembl Gene ENSMUSG00000033712
Gene Name cell cycle activator and apoptosis regulator 2
Synonyms Dbc1, 2610301G19Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.528) question?
Stock # IGL01351
Quality Score
Status
Chromosome 14
Chromosomal Location 70375613-70391260 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70383311 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 229 (T229A)
Ref Sequence ENSEMBL: ENSMUSP00000036924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035612]
AlphaFold Q8VDP4
Predicted Effect probably benign
Transcript: ENSMUST00000035612
AA Change: T229A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000036924
Gene: ENSMUSG00000033712
AA Change: T229A

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
Coding Region Coverage
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,217,565 (GRCm39) S336P probably benign Het
Abca9 T C 11: 110,039,729 (GRCm39) Y428C probably damaging Het
Alpk1 T C 3: 127,466,011 (GRCm39) Q1165R probably damaging Het
Angel2 C A 1: 190,665,310 (GRCm39) N80K probably benign Het
Bmp6 T C 13: 38,653,610 (GRCm39) S226P probably damaging Het
Cdh12 G A 15: 21,237,989 (GRCm39) V75M probably damaging Het
Cdh6 G T 15: 13,034,326 (GRCm39) A778E possibly damaging Het
Corin A T 5: 72,496,334 (GRCm39) C540S probably damaging Het
Cyfip1 C A 7: 55,547,991 (GRCm39) Y530* probably null Het
Dock10 T G 1: 80,570,876 (GRCm39) K327N probably damaging Het
Dpy19l3 A G 7: 35,426,840 (GRCm39) probably benign Het
E2f8 T C 7: 48,516,899 (GRCm39) T827A probably benign Het
Edem3 T C 1: 151,668,136 (GRCm39) V305A possibly damaging Het
Fam170a T C 18: 50,414,845 (GRCm39) W164R probably benign Het
Fbxw14 T C 9: 109,103,640 (GRCm39) D24G possibly damaging Het
Gnmt T C 17: 47,037,606 (GRCm39) D124G probably benign Het
Gpx5 T C 13: 21,471,669 (GRCm39) D178G probably damaging Het
Gsdmd T A 15: 75,736,186 (GRCm39) I105N probably damaging Het
Hps5 C T 7: 46,410,856 (GRCm39) M1113I probably damaging Het
Hyal6 T C 6: 24,734,178 (GRCm39) F37S probably damaging Het
Il17c C T 8: 123,148,862 (GRCm39) T2I probably benign Het
Lyz1 A G 10: 117,127,093 (GRCm39) C48R probably damaging Het
Or52e18 T A 7: 104,609,946 (GRCm39) probably benign Het
Pafah1b3 G A 7: 24,994,570 (GRCm39) R215C possibly damaging Het
Psmb4 A T 3: 94,793,538 (GRCm39) probably null Het
Rnf213 T C 11: 119,373,944 (GRCm39) V5009A probably benign Het
Sema6a T C 18: 47,414,369 (GRCm39) K494E possibly damaging Het
Sfmbt1 T C 14: 30,491,777 (GRCm39) V17A probably benign Het
Speg T A 1: 75,387,920 (GRCm39) probably benign Het
Spint1 A G 2: 119,076,936 (GRCm39) D340G probably damaging Het
Tasor A G 14: 27,186,258 (GRCm39) E819G probably benign Het
Tctn3 T C 19: 40,596,081 (GRCm39) I309V probably benign Het
Tex19.1 T A 11: 121,038,072 (GRCm39) D143E probably damaging Het
Tktl2 A G 8: 66,965,548 (GRCm39) I369V probably benign Het
Tm2d2 A G 8: 25,510,573 (GRCm39) probably benign Het
Traf4 C A 11: 78,056,226 (GRCm39) R14L possibly damaging Het
Zfhx4 A G 3: 5,466,196 (GRCm39) Y2118C probably damaging Het
Zmynd15 C A 11: 70,354,416 (GRCm39) N425K probably benign Het
Other mutations in Ccar2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Ccar2 APN 14 70,379,980 (GRCm39) nonsense probably null
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
R0502:Ccar2 UTSW 14 70,378,431 (GRCm39) missense probably benign 0.00
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
Posted On 2013-10-07