Incidental Mutation 'R5435:Ccar2'
ID 428290
Institutional Source Beutler Lab
Gene Symbol Ccar2
Ensembl Gene ENSMUSG00000033712
Gene Name cell cycle activator and apoptosis regulator 2
Synonyms Dbc1, 2610301G19Rik
MMRRC Submission 043000-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.528) question?
Stock # R5435 (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 70376776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 856 (L856P)
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 damaging
Transcript: ENSMUST00000035612
AA Change: L856P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036924
Gene: ENSMUSG00000033712
AA Change: L856P

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: ENSMUST00000226385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228049
Meta Mutation Damage Score 0.4974 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (74/74)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,383,413 (GRCm39) F851L probably benign Het
Abca17 C T 17: 24,486,588 (GRCm39) V1480I possibly damaging Het
Acsbg1 G T 9: 54,523,153 (GRCm39) Y491* probably null Het
Acsf3 T A 8: 123,507,020 (GRCm39) N104K probably damaging Het
Adam23 T C 1: 63,585,612 (GRCm39) Y400H possibly damaging Het
Adgra3 G A 5: 50,147,468 (GRCm39) T524M probably damaging Het
Aff1 G A 5: 103,902,198 (GRCm39) probably benign Het
Anxa9 T C 3: 95,204,561 (GRCm39) Y321C probably damaging Het
Ap1g1 T A 8: 110,565,552 (GRCm39) Y329N probably damaging Het
Aph1c A T 9: 66,741,783 (GRCm39) I33N possibly damaging Het
B3galnt2 A G 13: 14,171,575 (GRCm39) E491G probably benign Het
Bdh1 C T 16: 31,275,475 (GRCm39) R235C probably damaging Het
Ccdc107 A T 4: 43,493,519 (GRCm39) D30V probably damaging Het
Ccdc116 G T 16: 16,960,626 (GRCm39) H64N probably benign Het
Ccl12 T C 11: 81,994,001 (GRCm39) I86T possibly damaging Het
Col2a1 T C 15: 97,898,391 (GRCm39) probably benign Het
Col4a4 T A 1: 82,431,728 (GRCm39) I1519F unknown Het
Ddx19b T C 8: 111,735,458 (GRCm39) Q416R possibly damaging Het
Dnah6 T A 6: 73,037,121 (GRCm39) M3374L probably benign Het
Dnajc6 A T 4: 101,463,807 (GRCm39) I119F probably damaging Het
Ensa C A 3: 95,529,769 (GRCm39) probably benign Het
Fbxo4 C T 15: 3,995,274 (GRCm39) V357I possibly damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Foxf1 G A 8: 121,811,231 (GRCm39) G32S probably damaging Het
Gls2 G A 10: 128,030,995 (GRCm39) probably benign Het
Gm13599 T A 2: 67,226,496 (GRCm39) noncoding transcript Het
Gmnn A G 13: 24,936,084 (GRCm39) S197P probably benign Het
Guf1 A T 5: 69,720,512 (GRCm39) H324L probably benign Het
H2-Q6 A G 17: 35,644,661 (GRCm39) D150G probably damaging Het
Herc3 T A 6: 58,832,791 (GRCm39) L152Q probably damaging Het
Hnrnpul2 T G 19: 8,797,682 (GRCm39) S13A probably benign Het
Ighv5-4 A G 12: 113,561,283 (GRCm39) F46L probably benign Het
Kank1 T G 19: 25,388,507 (GRCm39) S727A probably benign Het
Kcnma1 A T 14: 23,578,472 (GRCm39) Y201* probably null Het
Lyst A T 13: 13,951,649 (GRCm39) H3750L possibly damaging Het
Mettl25 A G 10: 105,615,447 (GRCm39) probably null Het
Mpdz A G 4: 81,201,724 (GRCm39) probably benign Het
Myh9 C T 15: 77,653,809 (GRCm39) V1280I probably benign Het
Neto1 A T 18: 86,416,388 (GRCm39) T32S probably benign Het
Nol7 C A 13: 43,554,848 (GRCm39) H187Q possibly damaging Het
Or5ak22 T A 2: 85,230,814 (GRCm39) N21I probably benign Het
Pcdha8 A G 18: 37,126,652 (GRCm39) D378G probably damaging Het
Peak1 A G 9: 56,113,770 (GRCm39) S694P probably damaging Het
Pih1d1 T A 7: 44,805,696 (GRCm39) probably null Het
Pik3c2g T G 6: 139,661,581 (GRCm39) probably null Het
Prkar2a A G 9: 108,617,682 (GRCm39) R247G probably damaging Het
Psg26 A G 7: 18,212,398 (GRCm39) I319T possibly damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rasa3 T C 8: 13,681,811 (GRCm39) E46G possibly damaging Het
Rbbp5 T A 1: 132,422,013 (GRCm39) H304Q probably damaging Het
Relch T A 1: 105,668,975 (GRCm39) probably benign Het
Scn1a T A 2: 66,103,878 (GRCm39) E1783V probably damaging Het
Stag1 A G 9: 100,835,603 (GRCm39) N151S probably benign Het
Tbc1d32 C A 10: 55,916,246 (GRCm39) A1191S probably damaging Het
Tchh C A 3: 93,350,979 (GRCm39) R140S possibly damaging Het
Trank1 A G 9: 111,220,958 (GRCm39) Y2565C probably benign Het
Ttn A T 2: 76,744,702 (GRCm39) V5449D probably damaging Het
Tubgcp2 G A 7: 139,575,985 (GRCm39) P893S possibly damaging Het
Wdfy4 A G 14: 32,742,268 (GRCm39) F2325S probably damaging Het
Wdr35 A G 12: 9,039,951 (GRCm39) D352G probably benign Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Ypel3 A G 7: 126,374,960 (GRCm39) probably benign Het
Zan T A 5: 137,402,024 (GRCm39) T4023S unknown Het
Zfp735 T A 11: 73,602,939 (GRCm39) C628S possibly damaging 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
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
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'- TTCACCAAAAGGAACTATGGCC -3'
(R):5'- CCGCCTATACCTGGAGAACAAG -3'

Sequencing Primer
(F):5'- GGAACTATGGCCACCCTTTAG -3'
(R):5'- GATTCACACACTGGAACTGAAGCTTG -3'
Posted On 2016-09-01