Incidental Mutation 'R2150:Anapc2'
ID 234176
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 040153-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2150 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 25162490-25175927 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25162682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 52 (L52P)
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: L52P

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028341
Gene: ENSMUSG00000026965
AA Change: L52P

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: ENSMUST00000137361
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133697
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141509
Meta Mutation Damage Score 0.3946 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 98% (59/60)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik C T 8: 88,312,691 (GRCm39) Q159* probably null Het
Abca12 C A 1: 71,302,647 (GRCm39) V2191L probably benign Het
Adam34 A G 8: 44,105,538 (GRCm39) Y36H probably benign Het
Adprm A G 11: 66,929,055 (GRCm39) V312A probably benign Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Apoc4 T A 7: 19,412,560 (GRCm39) T62S probably damaging Het
Arfgef1 C T 1: 10,270,103 (GRCm39) A349T probably benign Het
Arhgap32 A G 9: 32,027,436 (GRCm39) E2G possibly damaging Het
Atg4c C A 4: 99,109,463 (GRCm39) N143K possibly damaging Het
C1qtnf12 A G 4: 156,050,922 (GRCm39) N297S probably benign Het
Cadps2 G T 6: 23,838,998 (GRCm39) probably benign Het
Ccdc63 C G 5: 122,265,628 (GRCm39) A71P possibly damaging Het
Cdca2 T C 14: 67,952,258 (GRCm39) K38E probably damaging Het
Cyp2j11 G A 4: 96,204,595 (GRCm39) T317I probably damaging Het
Dab2 T C 15: 6,446,398 (GRCm39) V5A probably benign Het
Dennd3 A T 15: 73,426,909 (GRCm39) H762L probably benign Het
Disp1 A G 1: 182,869,936 (GRCm39) F828S probably damaging Het
Dnah2 T C 11: 69,406,587 (GRCm39) M552V probably benign Het
Dock2 A G 11: 34,179,472 (GRCm39) probably null Het
Dsel A T 1: 111,787,987 (GRCm39) N849K probably benign Het
Fah A T 7: 84,244,042 (GRCm39) I239N probably damaging Het
Flt4 T C 11: 49,536,824 (GRCm39) Y1265H probably benign Het
Ghdc T C 11: 100,660,018 (GRCm39) E243G probably benign Het
Glb1 T C 9: 114,279,716 (GRCm39) Y375H probably damaging Het
Gm6619 A G 6: 131,466,021 (GRCm39) I40V probably benign Het
Gpld1 T C 13: 25,146,630 (GRCm39) V225A probably benign Het
Hectd4 T C 5: 121,391,921 (GRCm39) probably benign Het
Igdcc4 A G 9: 65,032,617 (GRCm39) I542V possibly damaging Het
Igsf9b T C 9: 27,245,633 (GRCm39) L1200P probably damaging Het
Itgb7 C T 15: 102,130,553 (GRCm39) V378M probably damaging Het
Krt84 T C 15: 101,438,019 (GRCm39) E312G possibly damaging Het
Man2a2 A G 7: 80,017,532 (GRCm39) W250R probably damaging Het
Mcam T C 9: 44,047,932 (GRCm39) V59A probably damaging Het
Mfrp T C 9: 44,015,015 (GRCm39) L314P probably benign Het
Mgat5 T C 1: 127,396,987 (GRCm39) V578A probably damaging Het
Mycbp2 G A 14: 103,393,358 (GRCm39) H3068Y probably damaging Het
Myh1 A C 11: 67,113,234 (GRCm39) D1873A probably benign Het
Nek9 A G 12: 85,376,677 (GRCm39) W235R probably damaging Het
Or9g19 T C 2: 85,600,342 (GRCm39) S66P probably damaging Het
Parvb A G 15: 84,116,369 (GRCm39) K33E possibly damaging Het
Pecr T C 1: 72,316,517 (GRCm39) R63G possibly damaging Het
Pkhd1l1 T G 15: 44,363,378 (GRCm39) probably null Het
Plekha5 T C 6: 140,516,129 (GRCm39) V270A probably damaging Het
Prr14l T C 5: 32,988,046 (GRCm39) D483G probably benign Het
Rimkla T A 4: 119,331,779 (GRCm39) M140L possibly damaging Het
Senp1 C T 15: 97,956,196 (GRCm39) V408I possibly damaging Het
Stambpl1 T A 19: 34,204,104 (GRCm39) Y65N probably damaging Het
Tada2a T C 11: 83,970,455 (GRCm39) D432G probably damaging Het
Themis T A 10: 28,544,723 (GRCm39) I23N probably damaging Het
Thnsl1 T C 2: 21,217,344 (GRCm39) I366T probably benign Het
Tmem131 C A 1: 36,851,690 (GRCm39) V938L probably benign Het
Tmem178b A T 6: 40,184,435 (GRCm39) Q111L probably damaging Het
Vmn1r195 C G 13: 22,462,934 (GRCm39) L135V possibly damaging Het
Vmn2r-ps36 C T 7: 7,431,539 (GRCm39) noncoding transcript Het
Zfp956 G A 6: 47,940,805 (GRCm39) R388H probably damaging Het
Zfr2 T G 10: 81,077,950 (GRCm39) V259G probably benign 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
R2173:Anapc2 UTSW 2 25,163,288 (GRCm39) missense probably benign 0.01
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'- TGTTGTAGTTCTGCAGCGCC -3'
(R):5'- GAAGCTCTTCCTCCTTTGGTGG -3'

Sequencing Primer
(F):5'- TGCACAGCTAAGTCCGC -3'
(R):5'- CTCCTTTGGTGGGACTGCAC -3'
Posted On 2014-10-01