Incidental Mutation 'R1908:Apc2'
ID 210073
Institutional Source Beutler Lab
Gene Symbol Apc2
Ensembl Gene ENSMUSG00000020135
Gene Name APC regulator of WNT signaling pathway 2
Synonyms APCL
MMRRC Submission 039927-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R1908 (G1)
Quality Score 219
Status Not validated
Chromosome 10
Chromosomal Location 80131811-80154097 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 80150678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 1911 (S1911A)
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 probably benign
Transcript: ENSMUST00000020349
AA Change: S1882A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000020349
Gene: ENSMUSG00000020135
AA Change: S1882A

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: S1911A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000100996
Gene: ENSMUSG00000020135
AA Change: S1911A

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: 97.3%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C A 11: 109,847,924 (GRCm39) L852F possibly damaging Het
Abcc6 T C 7: 45,669,558 (GRCm39) probably null Het
Alg11 T G 8: 22,555,584 (GRCm39) C240G probably damaging Het
Aox1 A G 1: 58,141,783 (GRCm39) I1190V probably damaging Het
Arfgef3 T C 10: 18,528,511 (GRCm39) D292G possibly damaging Het
Arhgef4 C A 1: 34,763,340 (GRCm39) S865R probably benign Het
Ass1 T A 2: 31,383,160 (GRCm39) Y190* probably null Het
B4galnt3 A T 6: 120,187,051 (GRCm39) probably null Het
Btnl10 C A 11: 58,811,367 (GRCm39) P230Q possibly damaging Het
C3 A G 17: 57,516,489 (GRCm39) Y1348H probably damaging Het
Ccdc198 G T 14: 49,464,032 (GRCm39) D292E probably damaging Het
Cebpz A T 17: 79,242,336 (GRCm39) Y439* probably null Het
Cic C A 7: 24,986,265 (GRCm39) T1229K probably damaging Het
Clip4 T C 17: 72,144,744 (GRCm39) S524P probably damaging Het
Col6a3 A C 1: 90,739,421 (GRCm39) I269R probably damaging Het
Dbh C T 2: 27,071,506 (GRCm39) T533I possibly damaging Het
Dcaf17 A T 2: 70,890,713 (GRCm39) R83* probably null Het
Dennd2b G A 7: 109,124,533 (GRCm39) Q686* probably null Het
Dnah1 A G 14: 30,984,515 (GRCm39) L3923P probably damaging Het
Dnah7a A T 1: 53,670,721 (GRCm39) D510E probably benign Het
Dock6 A G 9: 21,752,925 (GRCm39) F296S probably damaging Het
Eif4enif1 T C 11: 3,177,455 (GRCm39) S341P probably damaging Het
Epb41l1 G T 2: 156,352,737 (GRCm39) G461V possibly damaging Het
Epg5 T A 18: 78,002,247 (GRCm39) D555E probably benign Het
Fes T C 7: 80,036,609 (GRCm39) R113G probably damaging Het
Garre1 T A 7: 33,957,461 (GRCm39) I59L probably benign Het
Gm10684 A G 9: 45,021,511 (GRCm39) probably benign Het
Gm12185 T C 11: 48,806,231 (GRCm39) E320G probably benign Het
Gm14412 G T 2: 177,007,269 (GRCm39) H209N probably damaging Het
Gm14412 A C 2: 177,007,630 (GRCm39) S88R probably benign Het
Grhl1 T A 12: 24,658,555 (GRCm39) L400Q probably damaging Het
Havcr1 T A 11: 46,664,511 (GRCm39) Y216* probably null Het
Hephl1 A C 9: 14,985,420 (GRCm39) Y745* probably null Het
Hmcn2 T G 2: 31,301,922 (GRCm39) probably null Het
Hs3st6 A G 17: 24,977,110 (GRCm39) K197E possibly damaging Het
Ifi214 C T 1: 173,357,077 (GRCm39) V9I probably benign Het
Jakmip2 T C 18: 43,700,209 (GRCm39) T450A probably benign Het
Lrp4 T A 2: 91,328,753 (GRCm39) V1551D possibly damaging Het
Macf1 A T 4: 123,351,634 (GRCm39) H1634Q possibly damaging Het
Mcpt8 T A 14: 56,321,291 (GRCm39) I58F probably benign Het
Mga T A 2: 119,757,075 (GRCm39) H1018Q possibly damaging Het
Myo10 T A 15: 25,801,308 (GRCm39) V1499E probably damaging Het
Myom2 G T 8: 15,131,023 (GRCm39) D320Y probably damaging Het
Or11g7 T A 14: 50,691,295 (GRCm39) M262K probably damaging Het
Or13a27 T C 7: 139,925,378 (GRCm39) I175V probably benign Het
Or2r11 C T 6: 42,437,360 (GRCm39) V198M probably benign Het
Or2t26 A C 11: 49,039,101 (GRCm39) N6H possibly damaging Het
Or4c115 G A 2: 88,927,888 (GRCm39) P128S probably damaging Het
Or5d47 A T 2: 87,804,403 (GRCm39) V202D possibly damaging Het
Pabpc4 G T 4: 123,182,861 (GRCm39) R166L possibly damaging Het
Pcdhb8 A G 18: 37,489,015 (GRCm39) E231G possibly damaging Het
Pomgnt2 A T 9: 121,811,257 (GRCm39) I508N possibly damaging Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Prdm15 G T 16: 97,638,885 (GRCm39) D58E probably benign Het
Rgl2 A G 17: 34,151,122 (GRCm39) T117A probably benign Het
Rp1 A G 1: 4,418,943 (GRCm39) I723T probably damaging Het
Serpina3g A G 12: 104,207,536 (GRCm39) E233G probably damaging Het
Skint6 T A 4: 112,749,187 (GRCm39) S798C probably benign Het
Slc35f1 T C 10: 52,898,000 (GRCm39) L137P possibly damaging Het
Slc6a20a T C 9: 123,485,373 (GRCm39) N246S probably damaging Het
Slc7a2 T C 8: 41,369,534 (GRCm39) L663S probably benign Het
Slco1a4 A G 6: 141,761,173 (GRCm39) probably null Het
Slit2 A G 5: 48,439,330 (GRCm39) T41A probably damaging Het
Smc2 T C 4: 52,450,863 (GRCm39) I227T probably damaging Het
Smg1 A G 7: 117,753,422 (GRCm39) probably benign Het
Ssu2 A T 6: 112,361,388 (GRCm39) L23M probably benign Het
Syne2 A G 12: 76,141,053 (GRCm39) probably null Het
Tekt1 T C 11: 72,242,761 (GRCm39) T249A probably benign Het
Tfr2 T C 5: 137,569,954 (GRCm39) V120A probably benign Het
Thsd7b C T 1: 129,605,846 (GRCm39) P529L probably damaging Het
Tll1 C T 8: 64,478,141 (GRCm39) D871N probably damaging Het
Tlr11 A C 14: 50,598,664 (GRCm39) I217L probably benign Het
Tmem87b T A 2: 128,673,479 (GRCm39) V241D probably damaging Het
Tshz2 T A 2: 169,727,465 (GRCm39) I218N possibly damaging Het
Vmn1r18 A T 6: 57,367,026 (GRCm39) I176N possibly damaging Het
Vmn2r68 T A 7: 84,883,260 (GRCm39) H164L probably benign Het
Vmn2r74 T C 7: 85,601,650 (GRCm39) T663A probably benign Het
Vmn2r8 T C 5: 108,945,436 (GRCm39) T724A probably benign Het
Wdr11 T C 7: 129,206,954 (GRCm39) V289A possibly damaging Het
Zfp62 T A 11: 49,107,047 (GRCm39) D379E probably damaging Het
Zfp78 C T 7: 6,381,897 (GRCm39) P316S probably damaging Het
Zfyve27 T G 19: 42,159,987 (GRCm39) M1R probably null Het
Zkscan8 G A 13: 21,709,325 (GRCm39) P191L 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
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'- CAAGATCTCTGAGCTGGCAG -3'
(R):5'- AAAGTCAGCTGTCTTCGGAAG -3'

Sequencing Primer
(F):5'- TGGCAGCTTTGCGCCAC -3'
(R):5'- AGCTGTCTTCGGAAGCCTGAG -3'
Posted On 2014-06-30