Incidental Mutation 'R2173:Anapc2'
ID 237595
Institutional Source Beutler Lab
Gene Symbol Anapc2
Ensembl Gene ENSMUSG00000026965
Gene Name anaphase promoting complex subunit 2
Synonyms Emi4, expressed during mesenchymal induction 4, 9230107K09Rik, Imi4, APC2
MMRRC Submission 040175-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2173 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 25162490-25175927 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 25163288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 175 (V175G)
Ref Sequence ENSEMBL: ENSMUSP00000028341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028341] [ENSMUST00000028342] [ENSMUST00000114336] [ENSMUST00000129300]
AlphaFold Q8BZQ7
Predicted Effect probably benign
Transcript: ENSMUST00000028341
AA Change: V175G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000028341
Gene: ENSMUSG00000026965
AA Change: V175G

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
low complexity region 123 133 N/A INTRINSIC
low complexity region 153 164 N/A INTRINSIC
low complexity region 221 229 N/A INTRINSIC
low complexity region 456 467 N/A INTRINSIC
CULLIN 515 663 6.72e-9 SMART
APC2 772 832 3.67e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000028342
SMART Domains Protein: ENSMUSP00000028342
Gene: ENSMUSG00000026966

DomainStartEndE-ValueType
coiled coil region 13 70 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114336
SMART Domains Protein: ENSMUSP00000109975
Gene: ENSMUSG00000048707

DomainStartEndE-ValueType
Pfam:Phostensin_N 8 89 8.3e-38 PFAM
low complexity region 105 117 N/A INTRINSIC
internal_repeat_1 149 273 1.71e-5 PROSPERO
low complexity region 290 322 N/A INTRINSIC
low complexity region 401 410 N/A INTRINSIC
Pfam:Phostensin 506 645 1.8e-65 PFAM
low complexity region 647 665 N/A INTRINSIC
low complexity region 684 697 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127176
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129265
Predicted Effect probably benign
Transcript: ENSMUST00000129300
SMART Domains Protein: ENSMUSP00000115177
Gene: ENSMUSG00000026965

DomainStartEndE-ValueType
low complexity region 170 181 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133697
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137361
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141509
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141470
Meta Mutation Damage Score 0.1043 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 97% (66/68)
MGI Phenotype FUNCTION: This gene encodes a component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle by ubiquitinating its specific substrates, such as mitotic cyclins and anaphase inhibitor, for subsequent degradation by the proteasome. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality before E6.5. Conditional ablation in the liver results in liver failure and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 T A 3: 127,477,239 (GRCm39) H273L probably damaging Het
Alpk3 A G 7: 80,726,648 (GRCm39) Y111C probably damaging Het
Arhgap30 T C 1: 171,235,335 (GRCm39) S570P probably damaging Het
AU040320 T C 4: 126,686,069 (GRCm39) L215P probably benign Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Ccdc65 A G 15: 98,618,914 (GRCm39) N298D probably benign Het
Cfap70 T A 14: 20,458,630 (GRCm39) N727Y probably benign Het
Clcn7 A G 17: 25,364,583 (GRCm39) H63R probably benign Het
Corin A T 5: 72,661,422 (GRCm39) C24S probably benign Het
Cyp1a2 A G 9: 57,584,798 (GRCm39) W419R probably damaging Het
Dlgap4 C A 2: 156,604,732 (GRCm39) A256D probably damaging Het
Eif4enif1 A G 11: 3,192,367 (GRCm39) probably null Het
Eri2 A G 7: 119,385,766 (GRCm39) V245A possibly damaging Het
Erich6b T C 14: 75,896,332 (GRCm39) F73L probably benign Het
Fam110a A G 2: 151,812,429 (GRCm39) C114R probably damaging Het
Fam149a T C 8: 45,806,991 (GRCm39) D288G probably damaging Het
Fam171a1 T A 2: 3,226,656 (GRCm39) Y596* probably null Het
Fsd1 A G 17: 56,298,223 (GRCm39) T183A possibly damaging Het
Fut10 T A 8: 31,726,159 (GRCm39) Y305N probably damaging Het
Ganab A T 19: 8,879,624 (GRCm39) probably benign Het
Gm9922 G T 14: 101,967,012 (GRCm39) probably benign Het
Gp9 A G 6: 87,756,035 (GRCm39) T17A probably benign Het
Gxylt2 T C 6: 100,775,115 (GRCm39) Y345H probably damaging Het
Herc2 A G 7: 55,835,699 (GRCm39) H3269R probably benign Het
Hpx A T 7: 105,241,290 (GRCm39) S374T probably benign Het
Hspa5 T C 2: 34,664,674 (GRCm39) V376A probably damaging Het
Hyi T C 4: 118,219,381 (GRCm39) probably benign Het
Impdh2 G A 9: 108,442,593 (GRCm39) probably null Het
Kremen2 A C 17: 23,961,770 (GRCm39) W246G probably damaging Het
Krt87 A G 15: 101,385,818 (GRCm39) V259A probably damaging Het
L3mbtl4 A T 17: 68,894,188 (GRCm39) H398L probably damaging Het
Lama5 C A 2: 179,838,035 (GRCm39) V894L probably benign Het
Maml2 A G 9: 13,532,912 (GRCm39) probably benign Het
Nup153 A T 13: 46,855,076 (GRCm39) probably benign Het
Or10g6 T G 9: 39,934,550 (GRCm39) I287S probably damaging Het
Or2y15 G T 11: 49,350,967 (GRCm39) V154L probably benign Het
Or5k14 A G 16: 58,692,982 (GRCm39) F177S probably damaging Het
Or8b3b T C 9: 38,584,240 (GRCm39) I180V probably benign Het
Or9r7 G A 10: 129,962,372 (GRCm39) P185S probably benign Het
Otof C T 5: 30,543,718 (GRCm39) R582H probably damaging Het
Otud4 T C 8: 80,395,093 (GRCm39) S543P probably damaging Het
Pde6a A G 18: 61,387,453 (GRCm39) D448G probably damaging Het
Phgdh A G 3: 98,222,427 (GRCm39) V388A probably benign Het
Plin3 G T 17: 56,586,891 (GRCm39) D385E possibly damaging Het
Polg G T 7: 79,105,341 (GRCm39) D734E probably damaging Het
Pomt1 T C 2: 32,140,912 (GRCm39) Y515H probably damaging Het
Prr35 A C 17: 26,167,461 (GRCm39) H25Q probably damaging Het
Pwwp2a G A 11: 43,573,313 (GRCm39) A132T probably benign Het
Rbm6 A T 9: 107,729,390 (GRCm39) F419L possibly damaging Het
Rfx5 A G 3: 94,864,027 (GRCm39) probably null Het
Rnf135 G A 11: 80,080,066 (GRCm39) S119N probably benign Het
Scfd1 T A 12: 51,433,862 (GRCm39) D51E probably benign Het
Smox A T 2: 131,353,944 (GRCm39) E5D possibly damaging Het
Srpk2 T C 5: 23,723,613 (GRCm39) probably null Het
Syne2 T A 12: 76,147,763 (GRCm39) probably benign Het
Tcf20 A G 15: 82,738,893 (GRCm39) S853P possibly damaging Het
Tmem131l A G 3: 83,833,452 (GRCm39) F804L probably damaging Het
Ttll8 A G 15: 88,798,800 (GRCm39) L645P probably damaging Het
Ubr3 T A 2: 69,727,743 (GRCm39) H35Q probably benign Het
Uck1 GCCAACACC GCC 2: 32,146,088 (GRCm39) probably benign Het
Vmn2r70 A T 7: 85,214,290 (GRCm39) H287Q probably benign Het
Vps26a A T 10: 62,304,171 (GRCm39) I150N probably damaging Het
Zfp605 G A 5: 110,275,323 (GRCm39) R147H probably benign Het
Zfyve16 A G 13: 92,631,596 (GRCm39) M1333T probably damaging Het
Other mutations in Anapc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01367:Anapc2 APN 2 25,164,794 (GRCm39) missense possibly damaging 0.65
IGL01575:Anapc2 APN 2 25,175,188 (GRCm39) splice site probably benign
IGL01993:Anapc2 APN 2 25,164,725 (GRCm39) missense probably benign 0.00
IGL02586:Anapc2 APN 2 25,175,108 (GRCm39) missense probably benign 0.08
IGL02721:Anapc2 APN 2 25,164,680 (GRCm39) nonsense probably null
FR4976:Anapc2 UTSW 2 25,162,544 (GRCm39) unclassified probably benign
R0415:Anapc2 UTSW 2 25,168,337 (GRCm39) missense probably damaging 1.00
R1539:Anapc2 UTSW 2 25,163,075 (GRCm39) missense probably benign
R1675:Anapc2 UTSW 2 25,162,651 (GRCm39) missense possibly damaging 0.88
R1720:Anapc2 UTSW 2 25,164,724 (GRCm39) missense probably benign 0.13
R2150:Anapc2 UTSW 2 25,162,682 (GRCm39) missense probably benign 0.27
R4028:Anapc2 UTSW 2 25,167,750 (GRCm39) missense probably damaging 1.00
R4254:Anapc2 UTSW 2 25,163,357 (GRCm39) missense probably benign 0.08
R4643:Anapc2 UTSW 2 25,166,406 (GRCm39) missense probably benign
R4742:Anapc2 UTSW 2 25,163,555 (GRCm39) splice site probably null
R4824:Anapc2 UTSW 2 25,167,764 (GRCm39) missense probably damaging 1.00
R5039:Anapc2 UTSW 2 25,164,808 (GRCm39) missense possibly damaging 0.70
R5530:Anapc2 UTSW 2 25,174,595 (GRCm39) missense possibly damaging 0.81
R6456:Anapc2 UTSW 2 25,170,207 (GRCm39) missense probably damaging 1.00
R6479:Anapc2 UTSW 2 25,175,407 (GRCm39) missense probably benign 0.04
R6587:Anapc2 UTSW 2 25,162,550 (GRCm39) unclassified probably benign
R7164:Anapc2 UTSW 2 25,175,011 (GRCm39) missense probably damaging 1.00
R7494:Anapc2 UTSW 2 25,166,376 (GRCm39) missense possibly damaging 0.95
R7829:Anapc2 UTSW 2 25,167,753 (GRCm39) missense probably damaging 1.00
R7954:Anapc2 UTSW 2 25,164,712 (GRCm39) missense probably damaging 1.00
R7970:Anapc2 UTSW 2 25,163,299 (GRCm39) missense possibly damaging 0.85
R8015:Anapc2 UTSW 2 25,174,688 (GRCm39) missense probably benign 0.08
R8064:Anapc2 UTSW 2 25,166,418 (GRCm39) missense probably benign
R8838:Anapc2 UTSW 2 25,163,546 (GRCm39) missense probably benign 0.11
R8954:Anapc2 UTSW 2 25,170,490 (GRCm39) missense probably benign 0.00
R9180:Anapc2 UTSW 2 25,163,303 (GRCm39) missense probably benign 0.08
R9468:Anapc2 UTSW 2 25,163,132 (GRCm39) missense possibly damaging 0.67
R9525:Anapc2 UTSW 2 25,166,339 (GRCm39) missense probably damaging 1.00
R9750:Anapc2 UTSW 2 25,174,982 (GRCm39) missense possibly damaging 0.82
RF042:Anapc2 UTSW 2 25,162,573 (GRCm39) unclassified probably benign
RF043:Anapc2 UTSW 2 25,162,573 (GRCm39) unclassified probably benign
RF062:Anapc2 UTSW 2 25,162,549 (GRCm39) frame shift probably null
X0025:Anapc2 UTSW 2 25,169,290 (GRCm39) missense probably benign 0.01
Z1088:Anapc2 UTSW 2 25,163,380 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TATTGCCACGGAGTTCTGGAATG -3'
(R):5'- GAGGACTCTGCAAAAGTCGG -3'

Sequencing Primer
(F):5'- TCTGCGAGAAAACTCTGTCG -3'
(R):5'- CTCTGCAAAAGTCGGTAGTACCTG -3'
Posted On 2014-10-02