Incidental Mutation 'R7743:Apc2'
ID 596676
Institutional Source Beutler Lab
Gene Symbol Apc2
Ensembl Gene ENSMUSG00000020135
Gene Name APC regulator of WNT signaling pathway 2
Synonyms APCL
MMRRC Submission 045799-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R7743 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 80131811-80154097 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80140749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 201 (M201I)
Ref Sequence ENSEMBL: ENSMUSP00000100996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020349] [ENSMUST00000105359] [ENSMUST00000138909] [ENSMUST00000140828] [ENSMUST00000154212]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000020349
AA Change: M177I

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020349
Gene: ENSMUSG00000020135
AA Change: M177I

DomainStartEndE-ValueType
PDB:1DEB|B 4 57 9e-17 PDB
Pfam:Suppressor_APC 123 205 1.3e-28 PFAM
coiled coil region 214 236 N/A INTRINSIC
low complexity region 242 261 N/A INTRINSIC
ARM 300 355 2.95e0 SMART
ARM 417 468 2.22e-2 SMART
ARM 470 511 3.22e0 SMART
ARM 513 555 3.56e-1 SMART
ARM 557 602 2.1e1 SMART
ARM 607 647 1.82e-7 SMART
Blast:ARM 649 689 6e-18 BLAST
low complexity region 772 792 N/A INTRINSIC
low complexity region 817 844 N/A INTRINSIC
low complexity region 859 870 N/A INTRINSIC
low complexity region 971 980 N/A INTRINSIC
low complexity region 1057 1069 N/A INTRINSIC
low complexity region 1087 1103 N/A INTRINSIC
Pfam:APC_crr 1134 1159 4.4e-9 PFAM
low complexity region 1197 1208 N/A INTRINSIC
Pfam:APC_crr 1244 1269 4.1e-8 PFAM
Pfam:SAMP 1323 1343 2.1e-10 PFAM
Pfam:APC_crr 1369 1394 5.8e-8 PFAM
low complexity region 1500 1516 N/A INTRINSIC
Pfam:APC_crr 1540 1565 5.7e-8 PFAM
Pfam:SAMP 1594 1613 8.8e-11 PFAM
low complexity region 1673 1699 N/A INTRINSIC
Pfam:APC_basic 1757 2093 1.1e-142 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105359
AA Change: M201I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100996
Gene: ENSMUSG00000020135
AA Change: M201I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:APC_N_CC 30 81 2.7e-34 PFAM
Pfam:Suppressor_APC 148 228 1.4e-27 PFAM
coiled coil region 238 260 N/A INTRINSIC
low complexity region 266 285 N/A INTRINSIC
ARM 324 379 2.95e0 SMART
ARM 446 497 2.22e-2 SMART
ARM 499 540 3.22e0 SMART
ARM 542 584 3.56e-1 SMART
ARM 586 631 2.1e1 SMART
ARM 636 676 1.82e-7 SMART
Blast:ARM 678 718 6e-18 BLAST
Pfam:Arm_APC_u3 719 977 1.1e-26 PFAM
low complexity region 1000 1009 N/A INTRINSIC
low complexity region 1086 1098 N/A INTRINSIC
low complexity region 1116 1132 N/A INTRINSIC
Pfam:APC_crr 1164 1187 9.3e-8 PFAM
low complexity region 1226 1237 N/A INTRINSIC
Pfam:APC_crr 1274 1297 7.9e-10 PFAM
Pfam:APC_crr 1399 1423 1.3e-9 PFAM
low complexity region 1529 1545 N/A INTRINSIC
low complexity region 1585 1603 N/A INTRINSIC
Pfam:SAMP 1624 1642 1.3e-11 PFAM
low complexity region 1702 1728 N/A INTRINSIC
Pfam:APC_basic 1786 2122 1.3e-122 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138909
SMART Domains Protein: ENSMUSP00000116795
Gene: ENSMUSG00000020135

DomainStartEndE-ValueType
PDB:1DEB|B 21 72 1e-20 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000140828
SMART Domains Protein: ENSMUSP00000121324
Gene: ENSMUSG00000020135

DomainStartEndE-ValueType
PDB:1DEB|B 43 94 1e-20 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000154212
SMART Domains Protein: ENSMUSP00000118171
Gene: ENSMUSG00000020135

DomainStartEndE-ValueType
PDB:1DEB|B 6 57 7e-21 PDB
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (77/79)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele display gradual postnatal growth retardation, abnormal lamination of the cerebral cortex, hippocampus, olfactory bulb and cerebellum, impaired neuronal migration and impaired coordination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,774,516 (GRCm39) E1235G probably damaging Het
Abtb3 A T 10: 85,460,813 (GRCm39) I569F possibly damaging Het
Adam6a A G 12: 113,508,152 (GRCm39) D175G probably benign Het
Adgrf4 A T 17: 42,983,453 (GRCm39) C76* probably null Het
Agbl3 C T 6: 34,823,765 (GRCm39) T815I probably damaging Het
Ahnak2 A G 12: 112,748,383 (GRCm39) V488A not run Het
Akip1 T A 7: 109,311,035 (GRCm39) S192T probably benign Het
Arel1 G T 12: 84,987,043 (GRCm39) N124K probably damaging Het
Atp10a A T 7: 58,453,457 (GRCm39) H845L probably damaging Het
Atp2a2 A G 5: 122,599,634 (GRCm39) Y586H probably benign Het
BC051019 A G 7: 109,315,266 (GRCm39) Y330H probably damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Chek2 T G 5: 110,987,916 (GRCm39) probably null Het
Cldn14 A G 16: 93,716,615 (GRCm39) L77S probably damaging Het
Cox15 T C 19: 43,728,380 (GRCm39) K298E possibly damaging Het
Cpt1b G T 15: 89,305,607 (GRCm39) D369E probably benign Het
Cpxm1 T C 2: 130,235,342 (GRCm39) N550S probably benign Het
Csdc2 A G 15: 81,833,399 (GRCm39) E132G possibly damaging Het
Cyb5d2 A T 11: 72,669,702 (GRCm39) C219S probably damaging Het
Erbb4 T C 1: 68,367,278 (GRCm39) T480A probably benign Het
Fndc1 G A 17: 7,983,969 (GRCm39) T1319I unknown Het
Gm5773 T G 3: 93,680,565 (GRCm39) V79G probably damaging Het
Hsf2 G A 10: 57,387,431 (GRCm39) probably null Het
Itgb2l T C 16: 96,238,608 (GRCm39) T64A probably damaging Het
Kifc5b T C 17: 27,143,176 (GRCm39) V316A probably damaging Het
Ktn1 A G 14: 47,907,750 (GRCm39) D279G probably damaging Het
Lonrf1 T C 8: 36,716,206 (GRCm39) E143G possibly damaging Het
Mroh9 C T 1: 162,852,122 (GRCm39) E856K probably benign Het
Muc16 T C 9: 18,568,773 (GRCm39) T1249A unknown Het
Myh6 G A 14: 55,194,607 (GRCm39) R721W probably damaging Het
Myo6 A T 9: 80,183,611 (GRCm39) I669F unknown Het
N4bp2 A G 5: 65,965,802 (GRCm39) T1284A probably damaging Het
Npr3 A G 15: 11,905,724 (GRCm39) M1T probably null Het
Obscn C T 11: 58,990,603 (GRCm39) V1657M probably damaging Het
Olfr908 A G 9: 38,427,624 (GRCm39) T99A possibly damaging Het
Or52a20 A G 7: 103,366,560 (GRCm39) E253G possibly damaging Het
Or52p2 A T 7: 102,237,638 (GRCm39) F104Y probably benign Het
Otud6b C A 4: 14,818,389 (GRCm39) A171S possibly damaging Het
Pdcd2l A C 7: 33,892,256 (GRCm39) D204E probably benign Het
Pdia2 T C 17: 26,417,842 (GRCm39) S56G probably benign Het
Plcxd1 G A 5: 110,250,369 (GRCm39) E237K possibly damaging Het
Plekha5 A T 6: 140,501,712 (GRCm39) R633S probably damaging Het
Pnpla6 T C 8: 3,586,594 (GRCm39) F937L possibly damaging Het
Pth2 A T 7: 44,830,733 (GRCm39) M6L probably benign Het
Ptprd T A 4: 76,004,326 (GRCm39) K143I probably damaging Het
Rhbdf2 T C 11: 116,492,427 (GRCm39) D487G probably benign Het
Rhbdf2 A T 11: 116,494,775 (GRCm39) D300E probably benign Het
Rock2 G A 12: 17,026,048 (GRCm39) V1265I probably damaging Het
Rsf1 CGGC CGGCGGCGGAGGC 7: 97,229,139 (GRCm39) probably benign Het
Rtn4 T A 11: 29,683,790 (GRCm39) Y1027* probably null Het
Rxfp3 A G 15: 11,037,216 (GRCm39) L52P probably damaging Het
Sel1l3 A G 5: 53,293,227 (GRCm39) Y830H probably benign Het
Serpinb3d C T 1: 107,007,088 (GRCm39) V207I probably damaging Het
Sipa1l2 T C 8: 126,190,972 (GRCm39) E1006G probably damaging Het
Slc22a19 C T 19: 7,661,201 (GRCm39) M324I possibly damaging Het
Slc37a1 T A 17: 31,535,159 (GRCm39) F106I probably damaging Het
Snx14 A T 9: 88,280,402 (GRCm39) S518T probably benign Het
Sp2 T C 11: 96,851,935 (GRCm39) T330A probably damaging Het
Spata13 A T 14: 60,993,698 (GRCm39) H1050L probably damaging Het
Sptssa A C 12: 54,703,201 (GRCm39) V23G possibly damaging Het
Syt3 A T 7: 44,042,091 (GRCm39) I317F probably damaging Het
Tars1 A C 15: 11,399,458 (GRCm39) probably null Het
Tead3 T A 17: 28,551,801 (GRCm39) T431S probably benign Het
Tiam2 G A 17: 3,568,431 (GRCm39) E1526K possibly damaging Het
Tnni3 G A 7: 4,524,891 (GRCm39) P12L probably benign Het
Topaz1 A G 9: 122,614,201 (GRCm39) H1207R probably benign Het
Trdn G T 10: 33,133,058 (GRCm39) E107* probably null Het
Trp63 A G 16: 25,701,375 (GRCm39) N483S probably benign Het
Trpm4 A G 7: 44,957,762 (GRCm39) S1009P probably benign Het
Trpm6 T C 19: 18,804,772 (GRCm39) V908A probably benign Het
Tsen34 A T 7: 3,697,601 (GRCm39) M25L possibly damaging Het
Ttn T C 2: 76,781,827 (GRCm39) E1073G unknown Het
Uaca A T 9: 60,783,677 (GRCm39) I1380F probably damaging Het
Ubr3 A G 2: 69,774,793 (GRCm39) T539A probably benign Het
Ugt1a5 T A 1: 88,094,117 (GRCm39) M115K probably benign Het
Unc45b A T 11: 82,813,726 (GRCm39) I378F probably damaging Het
Unk G A 11: 115,940,262 (GRCm39) R205Q possibly damaging Het
Ush2a T A 1: 188,542,376 (GRCm39) L3314Q probably benign Het
Vezt A G 10: 93,816,286 (GRCm39) L475P probably damaging Het
Vmn2r115 C T 17: 23,564,772 (GRCm39) Q220* probably null Het
Yap1 T C 9: 7,962,379 (GRCm39) Q223R probably benign Het
Zdhhc7 G A 8: 120,813,467 (GRCm39) T114M possibly damaging Het
Zwilch A C 9: 64,060,217 (GRCm39) C374G probably damaging Het
Other mutations in Apc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Apc2 APN 10 80,147,820 (GRCm39) missense probably damaging 1.00
IGL01154:Apc2 APN 10 80,148,903 (GRCm39) missense possibly damaging 0.90
IGL01411:Apc2 APN 10 80,150,912 (GRCm39) missense probably damaging 0.99
IGL01598:Apc2 APN 10 80,148,882 (GRCm39) missense probably damaging 1.00
IGL01621:Apc2 APN 10 80,142,035 (GRCm39) missense probably damaging 1.00
IGL01720:Apc2 APN 10 80,150,333 (GRCm39) missense probably benign 0.01
IGL01837:Apc2 APN 10 80,150,492 (GRCm39) missense probably benign 0.24
IGL01933:Apc2 APN 10 80,147,574 (GRCm39) missense probably damaging 1.00
IGL02243:Apc2 APN 10 80,138,175 (GRCm39) missense probably damaging 1.00
IGL02292:Apc2 APN 10 80,138,258 (GRCm39) missense possibly damaging 0.59
IGL02956:Apc2 APN 10 80,142,209 (GRCm39) missense probably damaging 1.00
IGL03081:Apc2 APN 10 80,148,086 (GRCm39) missense probably damaging 1.00
IGL03172:Apc2 APN 10 80,149,220 (GRCm39) missense probably damaging 0.98
LCD18:Apc2 UTSW 10 80,135,808 (GRCm39) intron probably benign
R0278:Apc2 UTSW 10 80,148,647 (GRCm39) missense possibly damaging 0.90
R0501:Apc2 UTSW 10 80,150,958 (GRCm39) missense probably damaging 1.00
R0594:Apc2 UTSW 10 80,142,090 (GRCm39) nonsense probably null
R0607:Apc2 UTSW 10 80,149,935 (GRCm39) missense probably benign
R0624:Apc2 UTSW 10 80,150,417 (GRCm39) missense probably benign 0.00
R0633:Apc2 UTSW 10 80,143,289 (GRCm39) missense probably damaging 0.99
R0638:Apc2 UTSW 10 80,140,801 (GRCm39) missense probably damaging 0.99
R0647:Apc2 UTSW 10 80,140,762 (GRCm39) missense probably damaging 1.00
R0830:Apc2 UTSW 10 80,151,239 (GRCm39) missense probably damaging 1.00
R1071:Apc2 UTSW 10 80,147,336 (GRCm39) missense probably damaging 1.00
R1221:Apc2 UTSW 10 80,142,214 (GRCm39) missense probably damaging 1.00
R1432:Apc2 UTSW 10 80,148,183 (GRCm39) missense probably benign 0.00
R1579:Apc2 UTSW 10 80,147,179 (GRCm39) missense probably damaging 1.00
R1654:Apc2 UTSW 10 80,137,676 (GRCm39) missense possibly damaging 0.75
R1700:Apc2 UTSW 10 80,148,603 (GRCm39) missense probably damaging 1.00
R1774:Apc2 UTSW 10 80,144,964 (GRCm39) missense probably damaging 1.00
R1864:Apc2 UTSW 10 80,149,482 (GRCm39) missense probably damaging 1.00
R1908:Apc2 UTSW 10 80,150,678 (GRCm39) missense probably benign 0.05
R1915:Apc2 UTSW 10 80,151,701 (GRCm39) missense probably benign
R1999:Apc2 UTSW 10 80,144,994 (GRCm39) missense probably damaging 1.00
R2050:Apc2 UTSW 10 80,143,443 (GRCm39) splice site probably null
R2219:Apc2 UTSW 10 80,144,943 (GRCm39) missense probably benign 0.41
R2393:Apc2 UTSW 10 80,148,903 (GRCm39) missense possibly damaging 0.90
R3862:Apc2 UTSW 10 80,143,393 (GRCm39) missense possibly damaging 0.82
R3900:Apc2 UTSW 10 80,131,806 (GRCm39) splice site probably null
R3901:Apc2 UTSW 10 80,150,922 (GRCm39) missense possibly damaging 0.94
R3952:Apc2 UTSW 10 80,150,318 (GRCm39) missense probably damaging 1.00
R4009:Apc2 UTSW 10 80,149,426 (GRCm39) missense probably benign 0.00
R4090:Apc2 UTSW 10 80,141,378 (GRCm39) missense probably damaging 0.97
R4695:Apc2 UTSW 10 80,146,877 (GRCm39) missense probably damaging 1.00
R4754:Apc2 UTSW 10 80,150,192 (GRCm39) missense probably benign 0.01
R4807:Apc2 UTSW 10 80,150,196 (GRCm39) missense probably benign 0.13
R4886:Apc2 UTSW 10 80,150,047 (GRCm39) missense probably damaging 1.00
R4964:Apc2 UTSW 10 80,149,841 (GRCm39) missense probably benign 0.14
R5056:Apc2 UTSW 10 80,137,148 (GRCm39) missense probably benign
R5057:Apc2 UTSW 10 80,144,903 (GRCm39) missense probably damaging 0.99
R5165:Apc2 UTSW 10 80,151,684 (GRCm39) missense probably damaging 0.99
R5241:Apc2 UTSW 10 80,148,068 (GRCm39) missense probably benign
R5649:Apc2 UTSW 10 80,149,972 (GRCm39) missense probably damaging 1.00
R5924:Apc2 UTSW 10 80,147,984 (GRCm39) missense probably damaging 1.00
R6124:Apc2 UTSW 10 80,142,185 (GRCm39) missense probably damaging 0.98
R6218:Apc2 UTSW 10 80,142,254 (GRCm39) missense probably damaging 0.98
R6376:Apc2 UTSW 10 80,148,488 (GRCm39) missense probably damaging 1.00
R6490:Apc2 UTSW 10 80,149,757 (GRCm39) missense probably benign 0.01
R6572:Apc2 UTSW 10 80,147,613 (GRCm39) missense probably damaging 1.00
R6620:Apc2 UTSW 10 80,149,401 (GRCm39) missense probably damaging 0.97
R7171:Apc2 UTSW 10 80,151,170 (GRCm39) missense possibly damaging 0.65
R7180:Apc2 UTSW 10 80,146,990 (GRCm39) missense possibly damaging 0.94
R7326:Apc2 UTSW 10 80,147,574 (GRCm39) missense probably damaging 1.00
R7340:Apc2 UTSW 10 80,149,316 (GRCm39) missense probably benign 0.12
R7378:Apc2 UTSW 10 80,147,228 (GRCm39) missense probably damaging 1.00
R7384:Apc2 UTSW 10 80,148,458 (GRCm39) missense probably damaging 1.00
R7431:Apc2 UTSW 10 80,138,017 (GRCm39) missense possibly damaging 0.83
R7543:Apc2 UTSW 10 80,150,720 (GRCm39) missense possibly damaging 0.72
R7759:Apc2 UTSW 10 80,147,030 (GRCm39) missense probably damaging 1.00
R8244:Apc2 UTSW 10 80,151,166 (GRCm39) missense probably damaging 0.99
R8327:Apc2 UTSW 10 80,137,764 (GRCm39) missense probably damaging 1.00
R8489:Apc2 UTSW 10 80,143,298 (GRCm39) missense probably damaging 1.00
R8494:Apc2 UTSW 10 80,150,313 (GRCm39) missense probably damaging 1.00
R8669:Apc2 UTSW 10 80,149,491 (GRCm39) missense probably damaging 1.00
R8773:Apc2 UTSW 10 80,142,046 (GRCm39) missense probably damaging 1.00
R8920:Apc2 UTSW 10 80,149,934 (GRCm39) missense probably benign
R9178:Apc2 UTSW 10 80,150,235 (GRCm39) missense probably benign 0.11
R9224:Apc2 UTSW 10 80,150,111 (GRCm39) missense probably damaging 0.97
R9357:Apc2 UTSW 10 80,146,872 (GRCm39) missense probably damaging 1.00
R9394:Apc2 UTSW 10 80,145,006 (GRCm39) missense probably damaging 1.00
R9666:Apc2 UTSW 10 80,147,183 (GRCm39) missense possibly damaging 0.57
R9689:Apc2 UTSW 10 80,150,733 (GRCm39) missense probably damaging 1.00
X0018:Apc2 UTSW 10 80,148,098 (GRCm39) missense probably benign 0.02
Z1177:Apc2 UTSW 10 80,147,870 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTACTCTCAGCTCCAGGGC -3'
(R):5'- AGCCCGGATCTAGAGAACAG -3'

Sequencing Primer
(F):5'- GCCTGTCCAAGCGCTTG -3'
(R):5'- AATTCTCCGCCCAGCCG -3'
Posted On 2019-11-26