Incidental Mutation 'R0278:Apc2'
ID 24480
Institutional Source Beutler Lab
Gene Symbol Apc2
Ensembl Gene ENSMUSG00000020135
Gene Name APC regulator of WNT signaling pathway 2
Synonyms APCL
MMRRC Submission 038500-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R0278 (G1)
Quality Score 208
Status Not validated
Chromosome 10
Chromosomal Location 80131811-80154097 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 80148647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 1234 (P1234S)
Ref Sequence ENSEMBL: ENSMUSP00000100996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020349] [ENSMUST00000105359]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000020349
AA Change: P1205S

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000020349
Gene: ENSMUSG00000020135
AA Change: P1205S

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 possibly damaging
Transcript: ENSMUST00000105359
AA Change: P1234S

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100996
Gene: ENSMUSG00000020135
AA Change: P1234S

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
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.4%
  • 20x: 90.7%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,328,215 (GRCm39) S3429R probably damaging Het
Abca3 A G 17: 24,600,894 (GRCm39) D436G probably benign Het
Acacb C A 5: 114,371,320 (GRCm39) Y1816* probably null Het
Acer3 T C 7: 97,910,804 (GRCm39) Y86C probably damaging Het
Adgre1 A G 17: 57,754,872 (GRCm39) I657V probably benign Het
Akap1 A G 11: 88,736,020 (GRCm39) V214A probably benign Het
Ankrd42 T C 7: 92,280,865 (GRCm39) R22G possibly damaging Het
Atp13a4 A G 16: 29,273,652 (GRCm39) I441T probably damaging Het
Cenpu G A 8: 47,031,344 (GRCm39) A242T probably damaging Het
Col6a6 A T 9: 105,644,487 (GRCm39) V1267E possibly damaging Het
Crhr2 T C 6: 55,094,516 (GRCm39) T58A probably benign Het
Ddx6 T G 9: 44,542,722 (GRCm39) C385G probably damaging Het
Dnah7a A T 1: 53,543,305 (GRCm39) N2288K probably benign Het
Egfl8 A T 17: 34,833,342 (GRCm39) probably null Het
Elmo2 A T 2: 165,139,287 (GRCm39) I420N probably damaging Het
Elovl4 A G 9: 83,665,248 (GRCm39) F113L probably benign Het
Fancd2 T A 6: 113,525,409 (GRCm39) probably null Het
Fbxl13 A G 5: 21,728,908 (GRCm39) V456A probably benign Het
Fgfr2 A T 7: 129,863,592 (GRCm39) probably null Het
Fkbpl A T 17: 34,864,384 (GRCm39) R51* probably null Het
Fn3krp G A 11: 121,312,406 (GRCm39) V40M probably damaging Het
Fnip1 A G 11: 54,380,169 (GRCm39) probably null Het
Gm15446 A T 5: 110,091,281 (GRCm39) Q511L probably benign Het
Gm7334 A G 17: 51,006,289 (GRCm39) K192E probably damaging Het
H2-Q10 A T 17: 35,784,204 (GRCm39) T282S possibly damaging Het
Hspa9 A G 18: 35,073,963 (GRCm39) V482A possibly damaging Het
Ica1l A T 1: 60,053,155 (GRCm39) S128T probably benign Het
Il7r A T 15: 9,516,423 (GRCm39) I126K probably damaging Het
Kcnj8 T C 6: 142,516,074 (GRCm39) E11G probably benign Het
Klkb1 A C 8: 45,725,446 (GRCm39) F498V probably benign Het
Lama1 A G 17: 68,117,178 (GRCm39) E2491G probably null Het
Lhfpl2 T C 13: 94,310,943 (GRCm39) V71A probably benign Het
Lin9 T C 1: 180,493,488 (GRCm39) I198T probably damaging Het
Lrrc7 T A 3: 157,885,432 (GRCm39) M431L possibly damaging Het
Nmt2 A G 2: 3,326,424 (GRCm39) T519A probably benign Het
Or10w1 C A 19: 13,632,128 (GRCm39) L112I probably damaging Het
Or10w1 T A 19: 13,632,129 (GRCm39) L112H probably damaging Het
Or1d2 T C 11: 74,256,028 (GRCm39) F178L probably damaging Het
Or4a74 G T 2: 89,440,108 (GRCm39) L113M probably damaging Het
Or4a74 A T 2: 89,440,107 (GRCm39) L113Q probably damaging Het
Or5al7 A T 2: 85,992,923 (GRCm39) Y123* probably null Het
Or7h8 G T 9: 20,124,182 (GRCm39) C179F probably damaging Het
Parp4 A G 14: 56,844,980 (GRCm39) R624G probably damaging Het
Pex16 C T 2: 92,211,401 (GRCm39) P325S probably damaging Het
Pik3ca T C 3: 32,493,902 (GRCm39) M288T possibly damaging Het
Pla2g5 C T 4: 138,527,967 (GRCm39) D100N probably benign Het
Prss43 T A 9: 110,656,430 (GRCm39) M39K probably benign Het
Psd4 T C 2: 24,284,450 (GRCm39) S105P probably damaging Het
Ptprz1 T A 6: 23,000,816 (GRCm39) S969T probably benign Het
Rad23b T A 4: 55,383,575 (GRCm39) probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rpl10l A G 12: 66,331,130 (GRCm39) M1T probably null Het
Sec16a A G 2: 26,318,328 (GRCm39) S1588P probably damaging Het
Sh3rf1 A T 8: 61,827,052 (GRCm39) H602L probably damaging Het
Sparcl1 A T 5: 104,236,263 (GRCm39) S497T probably benign Het
Spata13 A G 14: 60,929,537 (GRCm39) Y365C probably benign Het
Trim5 T C 7: 103,928,882 (GRCm39) N20D probably benign Het
Vmn1r201 G T 13: 22,659,194 (GRCm39) W136L probably damaging Het
Vmn2r112 A G 17: 22,821,987 (GRCm39) I222V probably benign Het
Vmn2r56 A T 7: 12,449,644 (GRCm39) V198D probably damaging Het
Wapl A G 14: 34,414,569 (GRCm39) D477G possibly damaging Het
Zfp202 C A 9: 40,119,778 (GRCm39) H194N probably benign Het
Zfp212 C T 6: 47,903,453 (GRCm39) R13W 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
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
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'- GAGAACCTTGACAGCGATTCATCCC -3'
(R):5'- TGGCTTCTCCACTGTGAAGCGAAC -3'

Sequencing Primer
(F):5'- AGCTCATCTGAGAACTGCGTC -3'
(R):5'- TGTGAAGCGAACGCTGC -3'
Posted On 2013-04-16