Incidental Mutation 'R0624:Apc2'
ID 58823
Institutional Source Beutler Lab
Gene Symbol Apc2
Ensembl Gene ENSMUSG00000020135
Gene Name APC regulator of WNT signaling pathway 2
Synonyms APCL
MMRRC Submission 038813-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R0624 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 80131811-80154097 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80150417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1795 (T1795A)
Ref Sequence ENSEMBL: ENSMUSP00000020349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020341] [ENSMUST00000020349] [ENSMUST00000105359]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000020341
SMART Domains Protein: ENSMUSP00000020341
Gene: ENSMUSG00000020133

DomainStartEndE-ValueType
Pfam:UPF0449 6 103 7.5e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000020349
AA Change: T1795A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000020349
Gene: ENSMUSG00000020135
AA Change: T1795A

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 benign
Transcript: ENSMUST00000105359
AA Change: T1824A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000100996
Gene: ENSMUSG00000020135
AA Change: T1824A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.2%
Validation Efficiency 98% (88/90)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T A 11: 110,030,446 (GRCm39) D767V probably damaging Het
Add1 T A 5: 34,763,197 (GRCm39) N128K probably damaging Het
Ado A T 10: 67,384,058 (GRCm39) D182E probably benign Het
Anapc4 T A 5: 53,002,761 (GRCm39) probably benign Het
Ano10 A G 9: 122,088,661 (GRCm39) probably benign Het
Apba2 A G 7: 64,364,263 (GRCm39) probably null Het
Atp4a A G 7: 30,418,424 (GRCm39) N571D probably benign Het
Birc6 A G 17: 74,887,344 (GRCm39) N891D probably benign Het
Bltp2 G A 11: 78,159,283 (GRCm39) E494K probably damaging Het
Car3 G T 3: 14,931,864 (GRCm39) M78I probably benign Het
Cc2d2a A T 5: 43,887,371 (GRCm39) H1267L probably benign Het
Cdk18 A G 1: 132,046,610 (GRCm39) L192P probably damaging Het
Cdk9 A T 2: 32,599,836 (GRCm39) Y134N probably damaging Het
Ceacam5 A T 7: 17,448,888 (GRCm39) T85S probably benign Het
Cenpe A G 3: 134,952,347 (GRCm39) T1403A probably benign Het
Chd8 C T 14: 52,457,214 (GRCm39) G918D possibly damaging Het
Csnk1e T A 15: 79,304,098 (GRCm39) probably benign Het
Dctpp1 A T 7: 126,856,365 (GRCm39) I119N probably damaging Het
Defb34 T A 8: 19,173,784 (GRCm39) F6Y unknown Het
Dnai4 T C 4: 102,930,054 (GRCm39) probably benign Het
Dvl1 C G 4: 155,939,232 (GRCm39) N248K probably damaging Het
Dync1h1 T C 12: 110,618,181 (GRCm39) probably benign Het
Dync2i1 T C 12: 116,211,910 (GRCm39) D199G probably damaging Het
Eml5 T A 12: 98,831,738 (GRCm39) R407W probably damaging Het
Epb41l5 T C 1: 119,551,688 (GRCm39) D99G probably damaging Het
Fat1 A T 8: 45,504,205 (GRCm39) N4566I possibly damaging Het
Gm21834 T C 17: 58,049,015 (GRCm39) E67G possibly damaging Het
Gsap T A 5: 21,458,949 (GRCm39) probably null Het
Guf1 T C 5: 69,715,923 (GRCm39) I108T probably damaging Het
Hsd3b5 T C 3: 98,526,720 (GRCm39) D242G probably damaging Het
Kcna7 A G 7: 45,059,114 (GRCm39) D467G probably null Het
Lars1 A G 18: 42,375,849 (GRCm39) probably benign Het
Lrrc56 A T 7: 140,786,366 (GRCm39) D248V probably damaging Het
Map3k14 T A 11: 103,133,117 (GRCm39) E27V possibly damaging Het
Med12l G A 3: 58,945,123 (GRCm39) W116* probably null Het
Mgll A G 6: 88,702,799 (GRCm39) R33G probably damaging Het
Mmp13 A G 9: 7,280,221 (GRCm39) S384G possibly damaging Het
Nalcn C T 14: 123,607,444 (GRCm39) C675Y probably benign Het
Nrxn1 A G 17: 91,396,117 (GRCm39) L13P unknown Het
Ocstamp A G 2: 165,239,772 (GRCm39) V138A probably damaging Het
Or12e8 T G 2: 87,188,026 (GRCm39) Y79* probably null Het
Or2z8 T A 8: 72,812,006 (GRCm39) S161T possibly damaging Het
Or4a68 A G 2: 89,270,482 (GRCm39) V47A possibly damaging Het
Or4f7 T C 2: 111,645,056 (GRCm39) N5S probably damaging Het
Or5p51 A G 7: 107,444,323 (GRCm39) S206P possibly damaging Het
Or9i1b T G 19: 13,896,808 (GRCm39) C141W probably damaging Het
Patj T C 4: 98,569,472 (GRCm39) probably benign Het
Pcdhb22 A G 18: 37,651,780 (GRCm39) I83V probably benign Het
Pclo A G 5: 14,719,670 (GRCm39) E1269G unknown Het
Plagl2 T C 2: 153,077,973 (GRCm39) T3A probably benign Het
Plcb1 C T 2: 135,136,831 (GRCm39) P309S possibly damaging Het
Pld3 A T 7: 27,239,000 (GRCm39) L175Q possibly damaging Het
Prrx1 A G 1: 163,075,974 (GRCm39) probably benign Het
Psap T G 10: 60,135,345 (GRCm39) probably benign Het
Ptgfr G A 3: 151,540,839 (GRCm39) T223M probably damaging Het
Reep2 A T 18: 34,973,824 (GRCm39) I6F probably benign Het
Rraga A G 4: 86,494,454 (GRCm39) E100G probably benign Het
Rrm2b T C 15: 37,931,889 (GRCm39) D37G probably benign Het
Rtl1 T C 12: 109,559,153 (GRCm39) I895M probably damaging Het
Ryr1 G A 7: 28,774,034 (GRCm39) A2445V probably damaging Het
Sbf1 C T 15: 89,186,532 (GRCm39) D898N possibly damaging Het
Sh3d19 G A 3: 86,022,213 (GRCm39) V548I possibly damaging Het
Shf C A 2: 122,199,116 (GRCm39) probably benign Het
Sipa1l3 T C 7: 29,086,676 (GRCm39) E638G probably damaging Het
Slc13a3 G T 2: 165,253,807 (GRCm39) P449T probably damaging Het
Slc2a13 C T 15: 91,234,215 (GRCm39) V374I possibly damaging Het
Slc4a7 T C 14: 14,794,059 (GRCm38) probably null Het
Slc7a2 T A 8: 41,361,568 (GRCm39) S414T probably benign Het
Slc9c1 A G 16: 45,393,719 (GRCm39) E554G probably benign Het
Smad2 T C 18: 76,433,064 (GRCm39) I332T probably damaging Het
Snrnp40 C T 4: 130,256,451 (GRCm39) P59S probably damaging Het
Sorcs2 A T 5: 36,222,777 (GRCm39) I154N probably damaging Het
Sort1 G A 3: 108,255,946 (GRCm39) G631S probably damaging Het
Sox10 T C 15: 79,043,586 (GRCm39) D149G possibly damaging Het
Spn C T 7: 126,735,380 (GRCm39) V376M possibly damaging Het
Tacc2 A G 7: 130,179,239 (GRCm39) D9G probably damaging Het
Tapt1 T G 5: 44,334,448 (GRCm39) L514F possibly damaging Het
Tcf3 A G 10: 80,249,168 (GRCm39) L480P probably damaging Het
Tenm4 G C 7: 96,423,227 (GRCm39) G637A probably damaging Het
Tex14 T A 11: 87,411,525 (GRCm39) N950K probably benign Het
Tgfbrap1 T G 1: 43,098,289 (GRCm39) H497P probably benign Het
Tnfrsf18 A T 4: 156,110,986 (GRCm39) Y48F possibly damaging Het
Tnxb A C 17: 34,902,522 (GRCm39) H1002P probably damaging Het
Ttn A G 2: 76,593,571 (GRCm39) probably benign Het
Ugt2b34 C G 5: 87,041,591 (GRCm39) probably null Het
Vldlr A G 19: 27,215,663 (GRCm39) D220G possibly damaging Het
Vmn1r33 A T 6: 66,589,121 (GRCm39) Y144* probably null Het
Xrcc4 T C 13: 90,140,594 (GRCm39) E205G possibly 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
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
R7743:Apc2 UTSW 10 80,140,749 (GRCm39) missense probably damaging 0.99
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'- ACCTAACGGTCCTGAGAAGGCAAAG -3'
(R):5'- AGCGAGCTGAAGCCATACGCAC -3'

Sequencing Primer
(F):5'- CCGCACTCAGTCCAAAGGTATT -3'
(R):5'- ATCCGCACAGGTGACTTC -3'
Posted On 2013-07-11