Incidental Mutation 'R7340:Apc2'
ID 569783
Institutional Source Beutler Lab
Gene Symbol Apc2
Ensembl Gene ENSMUSG00000020135
Gene Name APC regulator of WNT signaling pathway 2
Synonyms APCL
MMRRC Submission 045430-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R7340 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 80131811-80154097 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80149316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 1457 (K1457E)
Ref Sequence ENSEMBL: ENSMUSP00000100996 (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 possibly damaging
Transcript: ENSMUST00000020349
AA Change: K1428E

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000020349
Gene: ENSMUSG00000020135
AA Change: K1428E

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: K1457E

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000100996
Gene: ENSMUSG00000020135
AA Change: K1457E

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (83/84)
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
Abcb11 C T 2: 69,130,211 (GRCm39) D282N probably damaging Het
Adam30 A T 3: 98,069,637 (GRCm39) N490I probably benign Het
Ankrd55 A T 13: 112,492,497 (GRCm39) I223F probably damaging Het
Ano8 T A 8: 71,935,655 (GRCm39) E321V probably damaging Het
Asb15 T A 6: 24,558,513 (GRCm39) V38E probably benign Het
Atp4a T C 7: 30,416,155 (GRCm39) S417P possibly damaging Het
AY358078 A G 14: 52,063,716 (GRCm39) N454S probably damaging Het
Cables2 A G 2: 179,903,450 (GRCm39) Y245H Het
Cactin CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG 10: 81,157,152 (GRCm39) probably benign Het
Camsap3 G A 8: 3,637,960 (GRCm39) probably null Het
Ccdc178 A T 18: 22,150,518 (GRCm39) V705E probably benign Het
Ccdc47 T C 11: 106,091,799 (GRCm39) Q472R possibly damaging Het
Ccdc62 A G 5: 124,089,283 (GRCm39) D307G probably damaging Het
Cdcp3 A G 7: 130,879,344 (GRCm39) T1788A unknown Het
Cdh23 A G 10: 60,366,775 (GRCm39) I235T probably benign Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Cfap65 T C 1: 74,960,742 (GRCm39) N743D probably benign Het
Cimap1b T A 15: 89,262,610 (GRCm39) T116S probably benign Het
Clec16a A G 16: 10,398,827 (GRCm39) N329S probably null Het
Col25a1 A G 3: 130,340,006 (GRCm39) probably null Het
Daam1 T G 12: 72,035,713 (GRCm39) D969E probably benign Het
Dntt A C 19: 41,047,004 (GRCm39) probably null Het
Dsel C T 1: 111,789,303 (GRCm39) G411S probably damaging Het
Dst T A 1: 34,229,810 (GRCm39) Y2468N probably benign Het
Exosc9 A G 3: 36,615,297 (GRCm39) T262A possibly damaging Het
Exph5 G A 9: 53,288,309 (GRCm39) A1797T probably damaging Het
Fbp2 A T 13: 62,985,061 (GRCm39) Y287N probably damaging Het
Fmn2 CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC 1: 174,436,769 (GRCm39) probably benign Het
Fus T A 7: 127,581,123 (GRCm39) probably null Het
Galnt9 T A 5: 110,762,054 (GRCm39) N397K probably damaging Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Gga1 A G 15: 78,775,651 (GRCm39) T369A probably benign Het
Gp1ba T C 11: 70,531,119 (GRCm39) I295T unknown Het
Hk2 T C 6: 82,705,873 (GRCm39) E810G probably benign Het
Igsf10 A G 3: 59,233,189 (GRCm39) V1848A probably damaging Het
Insrr G A 3: 87,721,623 (GRCm39) probably null Het
Ip6k3 T A 17: 27,367,504 (GRCm39) M231L probably benign Het
Itgb8 T C 12: 119,155,939 (GRCm39) N171S probably benign Het
Ldlrad3 T C 2: 101,897,184 (GRCm39) probably null Het
Ltbp1 T A 17: 75,634,223 (GRCm39) C886* probably null Het
Mettl13 T C 1: 162,366,547 (GRCm39) D444G probably benign Het
Mns1 A G 9: 72,356,025 (GRCm39) Y224C probably damaging Het
Mri1 C T 8: 84,983,525 (GRCm39) R122Q probably benign Het
Ms4a6d G A 19: 11,567,437 (GRCm39) Q155* probably null Het
Myo5c A C 9: 75,196,423 (GRCm39) K1290Q probably benign Het
Nlrp12 T G 7: 3,281,755 (GRCm39) Q842H possibly damaging Het
Oga G A 19: 45,755,895 (GRCm39) Q583* probably null Het
Or14c44 T C 7: 86,061,957 (GRCm39) L129P possibly damaging Het
Or14j8 T A 17: 38,263,413 (GRCm39) R167S probably benign Het
Or2t1 A T 14: 14,328,401 (GRCm38) T97S possibly damaging Het
Or5d39 T C 2: 87,979,620 (GRCm39) T248A possibly damaging Het
Otoa A G 7: 120,729,288 (GRCm39) T554A probably benign Het
Per1 A G 11: 68,994,008 (GRCm39) D438G probably damaging Het
Phactr3 G A 2: 177,975,854 (GRCm39) R533H probably damaging Het
Phykpl T C 11: 51,490,370 (GRCm39) F417S probably damaging Het
Pole A T 5: 110,482,330 (GRCm39) T2057S probably benign Het
Polq A G 16: 36,881,288 (GRCm39) T1151A probably benign Het
Polr1g T C 7: 19,093,073 (GRCm39) T36A probably benign Het
Rbm26 A T 14: 105,389,976 (GRCm39) V216E possibly damaging Het
Ryk T C 9: 102,775,737 (GRCm39) I449T probably damaging Het
Sap25 A G 5: 137,640,935 (GRCm39) T225A probably benign Het
Sart3 A G 5: 113,882,728 (GRCm39) M864T probably benign Het
Sec31b T C 19: 44,517,161 (GRCm39) S280G probably benign Het
Sema4d A T 13: 51,877,598 (GRCm39) I78N probably damaging Het
Sgip1 G C 4: 102,778,661 (GRCm39) R419S unknown Het
Slc13a3 T C 2: 165,272,210 (GRCm39) I278V probably benign Het
Slc2a5 A G 4: 150,224,439 (GRCm39) D312G probably benign Het
Slc39a2 A T 14: 52,131,660 (GRCm39) Q77L possibly damaging Het
Srbd1 A T 17: 86,443,782 (GRCm39) V148E probably benign Het
Syngr2 A G 11: 117,703,322 (GRCm39) E46G probably damaging Het
Taok1 A G 11: 77,470,643 (GRCm39) V54A possibly damaging Het
Tas2r106 T A 6: 131,655,185 (GRCm39) H222L probably damaging Het
Tcaf3 A G 6: 42,566,848 (GRCm39) I747T probably benign Het
Tmem151b G T 17: 45,856,195 (GRCm39) P415Q probably benign Het
Tmf1 T C 6: 97,145,061 (GRCm39) D659G possibly damaging Het
Tnn G T 1: 159,973,592 (GRCm39) D258E probably damaging Het
Traj33 A G 14: 54,422,862 (GRCm39) I16V unknown Het
Ttll13 G T 7: 79,906,772 (GRCm39) C480F probably damaging Het
Ttn T C 2: 76,714,415 (GRCm39) N8137S unknown Het
Vmn1r85 T C 7: 12,819,073 (GRCm39) N24D probably damaging Het
Wdr81 T C 11: 75,335,525 (GRCm39) Q649R probably null Het
Zan T C 5: 137,382,092 (GRCm39) T5152A unknown Het
Zc3h6 A G 2: 128,835,110 (GRCm39) D82G 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
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
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'- TGTGTACATGTTAGTGCCCG -3'
(R):5'- AAGCAGTACACAGCTTCCTC -3'

Sequencing Primer
(F):5'- GCTCGGGGTGATGACTCG -3'
(R):5'- ACAGCTTCCTCTGTGGGTG -3'
Posted On 2019-09-13