Incidental Mutation 'ANU05:Ccar1'
ID 262499
Institutional Source Beutler Lab
Gene Symbol Ccar1
Ensembl Gene ENSMUSG00000020074
Gene Name cell division cycle and apoptosis regulator 1
Synonyms 9430036H15Rik, 2610511G16Rik, Carp1
Accession Numbers
Essential gene? Probably essential (E-score: 0.946) question?
Stock # ANU05
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 62579707-62628065 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 62592428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 708 (E708V)
Ref Sequence ENSEMBL: ENSMUSP00000151895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020268] [ENSMUST00000219527]
AlphaFold Q8CH18
Predicted Effect probably damaging
Transcript: ENSMUST00000020268
AA Change: E708V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000020268
Gene: ENSMUSG00000020074
AA Change: E708V

DomainStartEndE-ValueType
low complexity region 43 59 N/A INTRINSIC
low complexity region 62 106 N/A INTRINSIC
Pfam:S1-like 144 201 1.7e-34 PFAM
low complexity region 236 254 N/A INTRINSIC
low complexity region 256 279 N/A INTRINSIC
low complexity region 311 358 N/A INTRINSIC
DBC1 475 606 4.46e-90 SMART
SAP 633 667 5.25e-9 SMART
Blast:HDc 753 784 1e-7 BLAST
coiled coil region 792 819 N/A INTRINSIC
low complexity region 871 895 N/A INTRINSIC
SCOP:d1hqva_ 898 964 5e-3 SMART
Blast:HDc 921 979 5e-17 BLAST
coiled coil region 1029 1111 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218552
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218786
Predicted Effect probably damaging
Transcript: ENSMUST00000219527
AA Change: E708V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220236
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency
Allele List at MGI

All alleles(45) : Targeted, other(4) Gene trapped(41)

Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Acaca A G 11: 84,206,678 (GRCm39) K1513E probably damaging Het
Acacb T A 5: 114,363,931 (GRCm39) F1464Y probably benign Het
Adgrg6 G A 10: 14,286,274 (GRCm39) A1114V possibly damaging Het
Agl A G 3: 116,566,438 (GRCm39) I975T possibly damaging Het
Akap7 T C 10: 25,147,451 (GRCm39) H93R probably damaging Het
Arhgef11 T C 3: 87,640,481 (GRCm39) W1213R probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cilp T C 9: 65,186,265 (GRCm39) S787P possibly damaging Het
Col6a3 G A 1: 90,730,014 (GRCm39) T1157I probably damaging Het
D630003M21Rik T C 2: 158,038,308 (GRCm39) Y1046C probably benign Het
Dock3 A G 9: 106,772,862 (GRCm39) S464P probably benign Het
Dusp19 A G 2: 80,454,618 (GRCm39) T113A probably benign Het
Dync1h1 A C 12: 110,615,538 (GRCm39) Y2957S probably benign Het
Epdr1 T C 13: 19,778,814 (GRCm39) Y94C probably damaging Het
Fcho1 A T 8: 72,165,191 (GRCm39) L422Q probably benign Het
Gca T A 2: 62,520,787 (GRCm39) Y210* probably null Het
Gpnmb T C 6: 49,032,615 (GRCm39) V513A probably benign Het
Irx4 A G 13: 73,415,786 (GRCm39) T192A probably damaging Het
Isca1 T C 13: 59,906,785 (GRCm39) T54A probably benign Het
Kif12 GGGGC GGGGCCTCCACCCGGCGGGC 4: 63,089,660 (GRCm39) probably benign Het
L3mbtl1 T C 2: 162,812,100 (GRCm39) V715A probably benign Het
Lama1 G A 17: 68,045,865 (GRCm39) D257N probably damaging Het
Lgr5 T C 10: 115,314,439 (GRCm39) H166R probably damaging Het
M6pr A G 6: 122,289,218 (GRCm39) R9G probably benign Het
Nmt2 T G 2: 3,315,731 (GRCm39) S240R probably benign Het
Npas3 A G 12: 54,114,857 (GRCm39) E593G possibly damaging Het
Or8k30 G A 2: 86,339,513 (GRCm39) A237T possibly damaging Het
Pank4 T C 4: 155,059,103 (GRCm39) M412T probably damaging Het
Psd A G 19: 46,303,186 (GRCm39) V100A possibly damaging Het
Rab11fip3 T C 17: 26,235,087 (GRCm39) T28A probably damaging Het
Rnpepl1 A T 1: 92,847,468 (GRCm39) D685V probably benign Het
Rrad T C 8: 105,357,283 (GRCm39) E88G probably benign Het
Sdk2 T A 11: 113,733,906 (GRCm39) M846L probably benign Het
Sparcl1 A T 5: 104,242,581 (GRCm39) V36E possibly damaging Het
Spmip5 A T 19: 58,777,545 (GRCm39) H80Q probably damaging Het
Srrm4 C T 5: 116,605,628 (GRCm39) E210K unknown Het
Stk25 A T 1: 93,551,145 (GRCm39) probably null Het
Tacr3 A T 3: 134,635,810 (GRCm39) Y338F probably damaging Het
Tap2 A T 17: 34,428,184 (GRCm39) Q286L probably benign Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tubgcp5 C A 7: 55,458,277 (GRCm39) A396E possibly damaging Het
Ube2o T C 11: 116,430,960 (GRCm39) D980G probably damaging Het
Vmn1r86 T C 7: 12,836,433 (GRCm39) M98V probably benign Het
Vmn2r58 T A 7: 41,513,935 (GRCm39) H236L probably benign Het
Zfp521 T C 18: 13,950,303 (GRCm39) H1217R probably damaging Het
Zfyve1 A T 12: 83,601,779 (GRCm39) F110I probably benign Het
Other mutations in Ccar1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Ccar1 APN 10 62,589,013 (GRCm39) missense unknown
IGL01291:Ccar1 APN 10 62,592,428 (GRCm39) missense probably damaging 1.00
IGL01364:Ccar1 APN 10 62,612,653 (GRCm39) splice site probably null
IGL01777:Ccar1 APN 10 62,616,356 (GRCm39) missense possibly damaging 0.71
IGL01958:Ccar1 APN 10 62,626,714 (GRCm39) missense possibly damaging 0.94
IGL03096:Ccar1 APN 10 62,600,112 (GRCm39) missense probably benign 0.20
Lonk UTSW 10 62,600,312 (GRCm39) missense probably damaging 1.00
1mM(1):Ccar1 UTSW 10 62,619,665 (GRCm39) missense probably benign 0.00
R0440:Ccar1 UTSW 10 62,616,236 (GRCm39) missense possibly damaging 0.94
R1295:Ccar1 UTSW 10 62,619,661 (GRCm39) critical splice donor site probably null
R1573:Ccar1 UTSW 10 62,586,434 (GRCm39) missense unknown
R1585:Ccar1 UTSW 10 62,586,780 (GRCm39) missense unknown
R1633:Ccar1 UTSW 10 62,586,793 (GRCm39) missense unknown
R1840:Ccar1 UTSW 10 62,599,289 (GRCm39) missense probably damaging 0.98
R1854:Ccar1 UTSW 10 62,600,296 (GRCm39) missense probably damaging 1.00
R1905:Ccar1 UTSW 10 62,612,437 (GRCm39) missense possibly damaging 0.85
R2011:Ccar1 UTSW 10 62,612,473 (GRCm39) missense probably benign 0.03
R2041:Ccar1 UTSW 10 62,601,827 (GRCm39) missense probably damaging 1.00
R2202:Ccar1 UTSW 10 62,581,066 (GRCm39) missense unknown
R2327:Ccar1 UTSW 10 62,600,161 (GRCm39) missense probably damaging 1.00
R2932:Ccar1 UTSW 10 62,612,538 (GRCm39) missense probably benign 0.08
R3040:Ccar1 UTSW 10 62,592,273 (GRCm39) missense possibly damaging 0.83
R4647:Ccar1 UTSW 10 62,583,196 (GRCm39) nonsense probably null
R4829:Ccar1 UTSW 10 62,581,114 (GRCm39) missense unknown
R4887:Ccar1 UTSW 10 62,588,997 (GRCm39) missense unknown
R4888:Ccar1 UTSW 10 62,588,997 (GRCm39) missense unknown
R5000:Ccar1 UTSW 10 62,586,784 (GRCm39) missense unknown
R5207:Ccar1 UTSW 10 62,589,060 (GRCm39) missense unknown
R5214:Ccar1 UTSW 10 62,606,740 (GRCm39) missense probably damaging 1.00
R5644:Ccar1 UTSW 10 62,607,757 (GRCm39) missense probably benign 0.16
R6035:Ccar1 UTSW 10 62,587,564 (GRCm39) missense unknown
R6035:Ccar1 UTSW 10 62,587,564 (GRCm39) missense unknown
R6063:Ccar1 UTSW 10 62,612,496 (GRCm39) missense possibly damaging 0.70
R6330:Ccar1 UTSW 10 62,600,312 (GRCm39) missense probably damaging 1.00
R6370:Ccar1 UTSW 10 62,600,308 (GRCm39) missense probably damaging 1.00
R6828:Ccar1 UTSW 10 62,600,209 (GRCm39) missense probably damaging 0.98
R6943:Ccar1 UTSW 10 62,582,715 (GRCm39) missense unknown
R8054:Ccar1 UTSW 10 62,583,215 (GRCm39) missense unknown
R8089:Ccar1 UTSW 10 62,626,770 (GRCm39) start codon destroyed probably null 0.33
R8202:Ccar1 UTSW 10 62,607,768 (GRCm39) missense possibly damaging 0.94
R8544:Ccar1 UTSW 10 62,586,358 (GRCm39) missense unknown
R8730:Ccar1 UTSW 10 62,601,191 (GRCm39) missense probably damaging 1.00
R9182:Ccar1 UTSW 10 62,621,347 (GRCm39) missense probably damaging 0.98
R9645:Ccar1 UTSW 10 62,602,369 (GRCm39) missense probably benign 0.09
V8831:Ccar1 UTSW 10 62,583,185 (GRCm39) missense unknown
X0017:Ccar1 UTSW 10 62,601,119 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACACCAAGAAGAACATGGAAGCAGT -3'
(R):5'- AAATGACAAAGAGTTAGGAGCCGTCTC -3'

Sequencing Primer
(F):5'- TGGAAGCAGTCAAAGAAACACTC -3'
(R):5'- gcagaaactagcctgatactcac -3'
Posted On 2015-02-04