Incidental Mutation 'R4964:Apc2'
ID 383804
Institutional Source Beutler Lab
Gene Symbol Apc2
Ensembl Gene ENSMUSG00000020135
Gene Name APC regulator of WNT signaling pathway 2
Synonyms APCL
MMRRC Submission 042561-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R4964 (G1)
Quality Score 213
Status Validated
Chromosome 10
Chromosomal Location 80131811-80154097 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 80149841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 1603 (I1603L)
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: I1603L

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000020349
Gene: ENSMUSG00000020135
AA Change: I1603L

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: I1632L

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000100996
Gene: ENSMUSG00000020135
AA Change: I1632L

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 0.3764 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 98% (100/102)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,610,757 (GRCm39) probably benign Het
9030619P08Rik T A 15: 75,303,267 (GRCm39) noncoding transcript Het
A430033K04Rik G T 5: 138,645,119 (GRCm39) E335* probably null Het
Abcb1b A T 5: 8,862,671 (GRCm39) T118S probably benign Het
Abcb1b T A 5: 8,911,602 (GRCm39) I133N probably damaging Het
Acox3 A G 5: 35,747,080 (GRCm39) N166D probably damaging Het
Adam5 T C 8: 25,276,248 (GRCm39) Y473C probably damaging Het
Ankmy2 A G 12: 36,236,917 (GRCm39) K242E possibly damaging Het
Arhgef25 T A 10: 127,021,472 (GRCm39) I249F probably damaging Het
Birc2 T C 9: 7,860,553 (GRCm39) H255R probably benign Het
Cables1 A T 18: 12,074,334 (GRCm39) R486W possibly damaging Het
Caskin1 A T 17: 24,726,135 (GRCm39) D1414V probably damaging Het
Ccdc175 A G 12: 72,227,619 (GRCm39) S55P probably damaging Het
Ccdc57 A T 11: 120,751,978 (GRCm39) S868T probably benign Het
Ccny A T 18: 9,449,516 (GRCm39) probably null Het
Cdc34b A T 11: 94,633,087 (GRCm39) I96F probably damaging Het
Ctnnd1 A G 2: 84,452,417 (GRCm39) F69L possibly damaging Het
Cul9 C T 17: 46,849,451 (GRCm39) D565N probably damaging Het
Cxcl16 A G 11: 70,346,519 (GRCm39) V208A probably benign Het
Cyb5rl A G 4: 106,926,329 (GRCm39) probably benign Het
Ddx18 T C 1: 121,493,823 (GRCm39) K54E probably benign Het
Ddx60 G A 8: 62,432,372 (GRCm39) V885I probably damaging Het
Dlg1 C T 16: 31,573,626 (GRCm39) T9I probably benign Het
Dnase1 T C 16: 3,855,771 (GRCm39) probably benign Het
Drd4 T C 7: 140,873,690 (GRCm39) M114T probably damaging Het
Egfr A T 11: 16,858,949 (GRCm39) D976V probably damaging Het
Eif2s1 T A 12: 78,926,785 (GRCm39) N178K probably benign Het
Exoc3l4 A G 12: 111,395,155 (GRCm39) H591R probably benign Het
Galntl6 T C 8: 59,152,945 (GRCm39) probably benign Het
Glipr1l2 T A 10: 111,942,904 (GRCm39) I253K possibly damaging Het
Gnat1 A T 9: 107,554,433 (GRCm39) M115K probably benign Het
Gtsf2 T C 15: 103,352,755 (GRCm39) E88G possibly damaging Het
Hormad1 T A 3: 95,492,531 (GRCm39) probably null Het
Hydin A T 8: 111,217,305 (GRCm39) I1398F possibly damaging Het
Ifnar1 T C 16: 91,301,974 (GRCm39) V483A probably benign Het
Ints11 T C 4: 155,971,385 (GRCm39) F278L probably damaging Het
Ints6 A G 14: 62,939,911 (GRCm39) L593P probably damaging Het
Krt7 C T 15: 101,311,853 (GRCm39) R104C probably damaging Het
Map4k1 A T 7: 28,682,427 (GRCm39) H16L probably benign Het
Mef2d T A 3: 88,075,404 (GRCm39) I422N probably damaging Het
Mipep G T 14: 61,022,231 (GRCm39) R32L probably damaging Het
Mon1a A G 9: 107,779,850 (GRCm39) E473G probably damaging Het
Mterf2 T A 10: 84,955,979 (GRCm39) Q215L probably damaging Het
Mybpc1 T A 10: 88,391,525 (GRCm39) Y324F probably benign Het
Myh11 T C 16: 14,023,818 (GRCm39) E1512G probably damaging Het
Myo1g A T 11: 6,465,976 (GRCm39) F370I probably damaging Het
Myo5c T A 9: 75,204,791 (GRCm39) M1548K possibly damaging Het
Myof T A 19: 37,924,300 (GRCm39) I1306F probably damaging Het
Nle1 A G 11: 82,799,018 (GRCm39) F21S probably damaging Het
Noc2l C G 4: 156,330,368 (GRCm39) D513E probably damaging Het
Or1e17 A T 11: 73,832,028 (GRCm39) I319F probably benign Het
Or2z2 A G 11: 58,346,733 (GRCm39) V14A probably benign Het
Orc1 T C 4: 108,471,670 (GRCm39) *841R probably null Het
Patz1 A G 11: 3,257,720 (GRCm39) D573G probably damaging Het
Pcdhga3 A G 18: 37,809,154 (GRCm39) T536A probably benign Het
Pde6h C T 6: 136,938,201 (GRCm39) T58I possibly damaging Het
Pip5k1a T C 3: 94,978,094 (GRCm39) I275V probably benign Het
Pkd1 T C 17: 24,805,042 (GRCm39) probably null Het
Polr1e G A 4: 45,029,429 (GRCm39) A297T probably damaging Het
Polrmt A G 10: 79,582,385 (GRCm39) M1T probably null Het
Rbm34 T C 8: 127,678,087 (GRCm39) D269G possibly damaging Het
Rnf122 T A 8: 31,602,177 (GRCm39) M1K probably null Het
Rnf32 G A 5: 29,403,576 (GRCm39) R7H probably benign Het
Ryr2 T C 13: 11,729,497 (GRCm39) E2375G possibly damaging Het
Ryr2 T C 13: 11,848,878 (GRCm39) T361A probably benign Het
Serpina3m T C 12: 104,355,360 (GRCm39) I9T probably benign Het
Serpinb9 T A 13: 33,192,847 (GRCm39) W135R probably damaging Het
Sf3b1 T C 1: 55,038,871 (GRCm39) N804S probably benign Het
Shroom1 A G 11: 53,355,999 (GRCm39) T350A probably benign Het
Slc24a5 G A 2: 124,910,188 (GRCm39) V30I probably benign Het
Slc38a8 A T 8: 120,209,423 (GRCm39) probably null Het
Smarcd1 A G 15: 99,605,862 (GRCm39) S378G possibly damaging Het
Stx1b T C 7: 127,407,093 (GRCm39) I55V probably damaging Het
Sult2a8 A G 7: 14,159,457 (GRCm39) V54A probably damaging Het
Tacc2 T C 7: 130,330,507 (GRCm39) S264P probably damaging Het
Tbc1d4 A T 14: 101,695,610 (GRCm39) Y943N probably damaging Het
Tlr5 T C 1: 182,801,038 (GRCm39) I114T probably benign Het
Tmco6 T C 18: 36,868,555 (GRCm39) probably null Het
Treh T C 9: 44,593,945 (GRCm39) L144P probably damaging Het
Trmt2a T A 16: 18,067,418 (GRCm39) C30* probably null Het
Ttbk2 A T 2: 120,603,758 (GRCm39) F258L possibly damaging Het
Ttn T C 2: 76,785,380 (GRCm39) D665G probably damaging Het
Unc93b1 T C 19: 3,992,023 (GRCm39) probably null Het
Uroc1 T C 6: 90,322,376 (GRCm39) L300P probably damaging Het
Vps35l T C 7: 118,379,491 (GRCm39) I426T possibly damaging Het
Xbp1 A G 11: 5,471,125 (GRCm39) E44G probably damaging Het
Zfp451 A T 1: 33,816,942 (GRCm39) V119D probably damaging Het
Zfp457 T A 13: 67,441,342 (GRCm39) H315L probably damaging Het
Zfp518a T A 19: 40,904,295 (GRCm39) V1408D possibly damaging Het
Zfp52 T G 17: 21,780,665 (GRCm39) L171R probably benign Het
Zfp712 C T 13: 67,188,676 (GRCm39) C617Y probably damaging Het
Zfp770 T C 2: 114,027,868 (GRCm39) N67S probably benign 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
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'- CAGAAAGGAGACTCCATCCAGG -3'
(R):5'- TCTTGGATAGCCTGCCACTC -3'

Sequencing Primer
(F):5'- CCAACCCAGACTGATCGTGG -3'
(R):5'- TCCACACTGTCTAGGTCAGAG -3'
Posted On 2016-04-27