Incidental Mutation 'R4695:Apc2'
ID 355640
Institutional Source Beutler Lab
Gene Symbol Apc2
Ensembl Gene ENSMUSG00000020135
Gene Name APC regulator of WNT signaling pathway 2
Synonyms APCL
MMRRC Submission 042016-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R4695 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 80131811-80154097 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 80146877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 615 (R615S)
Ref Sequence ENSEMBL: ENSMUSP00000020349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020349] [ENSMUST00000105359]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000020349
AA Change: R615S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020349
Gene: ENSMUSG00000020135
AA Change: R615S

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: R644S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100996
Gene: ENSMUSG00000020135
AA Change: R644S

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts10 T A 17: 33,750,713 (GRCm39) M251K possibly damaging Het
Adcy2 A T 13: 68,875,962 (GRCm39) H513Q possibly damaging Het
Afg2a T G 3: 37,512,474 (GRCm39) F713C probably damaging Het
Ahctf1 A G 1: 179,580,619 (GRCm39) L1861P possibly damaging Het
Arhgap45 A C 10: 79,861,364 (GRCm39) D509A probably damaging Het
Atp6v1c2 T C 12: 17,351,208 (GRCm39) T108A probably benign Het
Blm T A 7: 80,143,976 (GRCm39) D821V probably damaging Het
C3 T A 17: 57,528,057 (GRCm39) I721L probably benign Het
Ccdc13 A T 9: 121,649,826 (GRCm39) V207E probably damaging Het
Ccndbp1 C T 2: 120,845,208 (GRCm39) probably benign Het
Cd180 A C 13: 102,842,268 (GRCm39) Q438P probably benign Het
Cd248 C T 19: 5,118,473 (GRCm39) T107M probably damaging Het
Cdan1 G A 2: 120,558,864 (GRCm39) R445C probably damaging Het
Cic C A 7: 24,973,013 (GRCm39) H915N possibly damaging Het
Cox8c T C 12: 102,865,742 (GRCm39) S40P possibly damaging Het
Cyp2d34 A T 15: 82,501,092 (GRCm39) C347S probably benign Het
Dhx30 A T 9: 109,914,356 (GRCm39) F974I probably damaging Het
Dlec1 A T 9: 118,972,221 (GRCm39) T1414S probably benign Het
Dlg2 C A 7: 92,087,170 (GRCm39) probably null Het
Dynlt5 T A 4: 102,861,426 (GRCm39) I136K probably damaging Het
Dzip1l T A 9: 99,529,258 (GRCm39) M329K probably benign Het
Dzip3 A T 16: 48,771,924 (GRCm39) L582I probably damaging Het
Emilin2 T C 17: 71,559,773 (GRCm39) Y1068C probably damaging Het
Fam221b T A 4: 43,659,622 (GRCm39) probably null Het
Fbxw22 A G 9: 109,207,939 (GRCm39) I444T probably damaging Het
Flnc T A 6: 29,440,428 (GRCm39) N245K probably damaging Het
Fnip1 T A 11: 54,390,245 (GRCm39) I380N probably damaging Het
Gbf1 C T 19: 46,247,606 (GRCm39) R181* probably null Het
Igkv6-17 T A 6: 70,348,486 (GRCm39) F12I probably benign Het
Itln1 C A 1: 171,358,645 (GRCm39) G174V probably damaging Het
Lrrc52 A G 1: 167,293,660 (GRCm39) probably null Het
LTO1 T C 7: 144,482,715 (GRCm39) probably null Het
Matn2 A G 15: 34,403,071 (GRCm39) Y432C probably damaging Het
Metap1d A G 2: 71,355,305 (GRCm39) *336W probably null Het
Mgam2-ps T A 6: 40,779,489 (GRCm39) noncoding transcript Het
Mrps9 T A 1: 42,901,675 (GRCm39) V61D possibly damaging Het
Myh7b T C 2: 155,456,097 (GRCm39) Y161H probably damaging Het
Myh9 T A 15: 77,653,053 (GRCm39) D1428V probably damaging Het
N4bp3 A T 11: 51,535,306 (GRCm39) probably null Het
Nat9 T A 11: 115,075,416 (GRCm39) Q75L probably benign Het
Nop2 T C 6: 125,121,519 (GRCm39) V767A probably benign Het
Ntrk2 A G 13: 59,274,307 (GRCm39) K728E probably damaging Het
Or51e1 T G 7: 102,358,764 (GRCm39) C99W probably damaging Het
Or5p72 G A 7: 108,022,196 (GRCm39) M139I probably benign Het
Or7g21 T A 9: 19,032,306 (GRCm39) H15Q probably null Het
Pcdhgb2 A G 18: 37,825,375 (GRCm39) T789A probably benign Het
Pcyt2 T C 11: 120,502,000 (GRCm39) D321G probably benign Het
Rad9a G A 19: 4,250,560 (GRCm39) R85C probably damaging Het
Rbbp8 A T 18: 11,854,839 (GRCm39) K355* probably null Het
Rhag T C 17: 41,147,358 (GRCm39) Y407H probably damaging Het
Robo4 G A 9: 37,314,495 (GRCm39) V161M probably damaging Het
Rpl27-ps3 C A 18: 6,332,922 (GRCm39) N97K probably benign Het
Slc45a4 A G 15: 73,453,924 (GRCm39) I691T possibly damaging Het
Slc9a9 A T 9: 94,818,502 (GRCm39) probably benign Het
Stard13 A G 5: 150,984,280 (GRCm39) F619L probably benign Het
Stt3b A T 9: 115,083,862 (GRCm39) V438E probably damaging Het
Tacr3 C T 3: 134,535,182 (GRCm39) T50I probably benign Het
Tacr3 G T 3: 134,635,690 (GRCm39) C298F probably damaging Het
Taok3 C T 5: 117,366,131 (GRCm39) T394M probably benign Het
Tgfb1i1 A G 7: 127,848,348 (GRCm39) D128G probably damaging Het
Tgfbr3l G T 8: 4,300,574 (GRCm39) V251L probably benign Het
Tom1l2 C G 11: 60,161,259 (GRCm39) R84P probably damaging Het
Top3a A G 11: 60,633,238 (GRCm39) S953P probably benign Het
Trappc10 T C 10: 78,033,697 (GRCm39) K957E probably damaging Het
Ttn T A 2: 76,565,668 (GRCm39) E28228V probably damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vdr A T 15: 97,756,801 (GRCm39) probably null Het
Zfp42 A T 8: 43,749,168 (GRCm39) L111Q 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
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'- ATGGGTGGGCATGACTGAAC -3'
(R):5'- ACCCATGGCGATCATCTTG -3'

Sequencing Primer
(F):5'- GCTAGAGGAGTGGCTGAGTC -3'
(R):5'- CCCATGGCGATCATCTTGTGTTTG -3'
Posted On 2015-10-21