Incidental Mutation 'R1675:Anapc2'
ID 187971
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 039711-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1675 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 25162490-25175927 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 25162651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 42 (V42M)
Ref Sequence ENSEMBL: ENSMUSP00000028341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028341] [ENSMUST00000028342] [ENSMUST00000114336] [ENSMUST00000129300]
AlphaFold Q8BZQ7
Predicted Effect possibly damaging
Transcript: ENSMUST00000028341
AA Change: V42M

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028341
Gene: ENSMUSG00000026965
AA Change: V42M

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: ENSMUST00000141509
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133697
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137361
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,302,570 (GRCm39) probably null Het
Adam6b T C 12: 113,454,664 (GRCm39) Y494H probably benign Het
Adamtsl2 GC G 2: 26,972,497 (GRCm39) probably null Het
Aph1a T A 3: 95,802,211 (GRCm39) D64E possibly damaging Het
Arhgef11 C T 3: 87,638,518 (GRCm39) A1111V possibly damaging Het
Atoh1 T C 6: 64,707,141 (GRCm39) S279P probably benign Het
Atp10b A G 11: 43,116,475 (GRCm39) T941A probably damaging Het
Barhl1 C T 2: 28,805,423 (GRCm39) R90Q possibly damaging Het
Calr3 T C 8: 73,185,302 (GRCm39) D91G probably damaging Het
Ccdc148 T C 2: 58,870,566 (GRCm39) D317G probably damaging Het
Cnn3 C T 3: 121,250,818 (GRCm39) Q19* probably null Het
Cul5 T C 9: 53,557,983 (GRCm39) D207G probably benign Het
Cyp4x1 T C 4: 114,984,757 (GRCm39) E41G possibly damaging Het
Dagla T A 19: 10,246,687 (GRCm39) M138L probably benign Het
Dnah6 A T 6: 73,106,523 (GRCm39) M1738K probably damaging Het
Eif4enif1 T A 11: 3,165,686 (GRCm39) S88T probably benign Het
Eno3 T C 11: 70,549,492 (GRCm39) probably null Het
Erbb3 C A 10: 128,407,073 (GRCm39) S1029I probably damaging Het
Erbin C A 13: 103,977,686 (GRCm39) V624L probably damaging Het
Fam170b C T 14: 32,557,359 (GRCm39) Q65* probably null Het
Gin1 T A 1: 97,713,780 (GRCm39) L360* probably null Het
Gldc A T 19: 30,120,853 (GRCm39) D359E probably damaging Het
Gpr107 A T 2: 31,057,063 (GRCm39) T52S possibly damaging Het
Hip1r A G 5: 124,132,883 (GRCm39) Y227C probably damaging Het
Hmgxb3 A G 18: 61,268,631 (GRCm39) L1004P probably damaging Het
Hspa1l A G 17: 35,196,419 (GRCm39) N153D probably damaging Het
Itga8 C A 2: 12,204,974 (GRCm39) V488L probably damaging Het
Kcnk10 G A 12: 98,462,547 (GRCm39) A134V probably benign Het
Kif18a T A 2: 109,128,748 (GRCm39) C406S probably benign Het
Klhl28 A T 12: 64,998,593 (GRCm39) S300R probably damaging Het
Kmt2e C T 5: 23,687,451 (GRCm39) Q434* probably null Het
Lilrb4a A G 10: 51,372,281 (GRCm39) T222A probably benign Het
Lipn G A 19: 34,058,110 (GRCm39) R277Q probably damaging Het
Lrrc61 G A 6: 48,545,708 (GRCm39) R177Q possibly damaging Het
Lrrc74a G A 12: 86,787,800 (GRCm39) E144K probably damaging Het
Mal T C 2: 127,476,964 (GRCm39) Y77C probably benign Het
Map1a T A 2: 121,133,136 (GRCm39) C1079* probably null Het
Mbd5 T A 2: 49,146,230 (GRCm39) S147T possibly damaging Het
Nsd2 T A 5: 34,018,493 (GRCm39) M509K probably benign Het
Or13p4 C T 4: 118,547,145 (GRCm39) R168H probably benign Het
Or1ad8 T C 11: 50,898,464 (GRCm39) F222L probably benign Het
Or5an1c C T 19: 12,218,195 (GRCm39) V277I probably benign Het
Or6p1 T C 1: 174,258,663 (GRCm39) V223A probably benign Het
Rcor2 C T 19: 7,247,546 (GRCm39) L45F probably damaging Het
Rpl12 T A 2: 32,853,537 (GRCm39) D107E probably benign Het
Rpl7l1 A T 17: 47,089,117 (GRCm39) F205I probably damaging Het
Samd4b C T 7: 28,113,435 (GRCm39) G177R probably damaging Het
Sema4a A T 3: 88,362,073 (GRCm39) F18I possibly damaging Het
Slc37a1 A T 17: 31,557,048 (GRCm39) T405S probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Syt14 T C 1: 192,579,790 (GRCm39) D781G probably damaging Het
Tasor2 T C 13: 3,619,507 (GRCm39) I2241M possibly damaging Het
Tprn T G 2: 25,154,421 (GRCm39) D574E probably benign Het
Trim75 T A 8: 65,435,163 (GRCm39) E429V probably damaging Het
Trit1 C T 4: 122,948,029 (GRCm39) R450C possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Unc13c A G 9: 73,546,332 (GRCm39) probably null Het
Usp49 C A 17: 47,984,335 (GRCm39) L447I probably damaging Het
Vmn1r20 T C 6: 57,408,937 (GRCm39) C88R probably benign Het
Zfp94 T A 7: 24,002,259 (GRCm39) K394N 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
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
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'- TCACACTTGACCAACTCGTTGTTGTAG -3'
(R):5'- AGCGATGGCATTCCAGAACTCC -3'

Sequencing Primer
(F):5'- TGCACAGCTAAGTCCGC -3'
(R):5'- ATTCCAGAACTCCGTGGC -3'
Posted On 2014-05-09