Incidental Mutation 'R9178:Apc2'
ID 696835
Institutional Source Beutler Lab
Gene Symbol Apc2
Ensembl Gene ENSMUSG00000020135
Gene Name APC regulator of WNT signaling pathway 2
Synonyms APCL
MMRRC Submission 068978-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R9178 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 80131811-80154097 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80150235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 1763 (G1763E)
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: G1734E

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000020349
Gene: ENSMUSG00000020135
AA Change: G1734E

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: G1763E

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000100996
Gene: ENSMUSG00000020135
AA Change: G1763E

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: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (74/74)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T A 9: 55,880,992 (GRCm39) T146S unknown Het
Abca8b A T 11: 109,840,937 (GRCm39) F1079I probably benign Het
Adcy10 A T 1: 165,403,218 (GRCm39) Q1572L possibly damaging Het
Akna T C 4: 63,312,846 (GRCm39) T426A possibly damaging Het
Alkbh8 A G 9: 3,338,448 (GRCm39) probably benign Het
Bmp1 G T 14: 70,727,613 (GRCm39) R657S possibly damaging Het
Calm1 G A 12: 100,171,979 (GRCm39) probably null Het
Ccdc150 C A 1: 54,311,644 (GRCm39) A210E probably damaging Het
Cdc42bpa T C 1: 179,958,401 (GRCm39) I275T Het
Cfap54 G T 10: 92,830,579 (GRCm39) Q1186K probably benign Het
Col6a6 A G 9: 105,659,169 (GRCm39) V592A probably benign Het
Colec11 A T 12: 28,644,854 (GRCm39) N213K possibly damaging Het
Dennd2b C T 7: 109,156,291 (GRCm39) G153D probably benign Het
Dennd5b G A 6: 148,934,844 (GRCm39) R676* probably null Het
Dnaaf5 T G 5: 139,138,652 (GRCm39) Y278D probably damaging Het
Dop1a T A 9: 86,371,796 (GRCm39) Y162* probably null Het
Dync1li2 A G 8: 105,150,255 (GRCm39) L369P possibly damaging Het
Ebf1 A G 11: 44,883,276 (GRCm39) T505A probably benign Het
Ebf1 A G 11: 44,895,548 (GRCm39) I584M probably benign Het
Eif1ad17 A G 12: 87,978,786 (GRCm39) R57G probably damaging Het
Frmpd1 T C 4: 45,285,367 (GRCm39) L1396P probably damaging Het
Gart A T 16: 91,430,904 (GRCm39) V386D possibly damaging Het
Gprin1 C T 13: 54,885,601 (GRCm39) R891H probably damaging Het
Gsap G A 5: 21,422,471 (GRCm39) V147I probably damaging Het
Gsc G T 12: 104,439,120 (GRCm39) Y85* probably null Het
Gtf2a1l A G 17: 88,976,152 (GRCm39) N5S Het
Hmcn2 T C 2: 31,281,521 (GRCm39) V1912A possibly damaging Het
Icos G T 1: 61,034,714 (GRCm39) S179I probably damaging Het
Ifi209 T C 1: 173,464,969 (GRCm39) L33P probably damaging Het
Igsf10 A G 3: 59,233,480 (GRCm39) I1751T possibly damaging Het
Il31ra T C 13: 112,677,780 (GRCm39) Y252C probably damaging Het
Ints6 A T 14: 62,947,036 (GRCm39) S310T probably damaging Het
Kcng1 A T 2: 168,111,105 (GRCm39) S20T possibly damaging Het
Klf15 T C 6: 90,444,091 (GRCm39) I222T probably damaging Het
Lmo7 A T 14: 102,044,906 (GRCm39) K53* probably null Het
Map10 C A 8: 126,397,649 (GRCm39) N347K probably damaging Het
Mrps11 C A 7: 78,440,444 (GRCm39) T111K probably damaging Het
Myom3 T G 4: 135,506,710 (GRCm39) D494E probably benign Het
Naalad2 T A 9: 18,242,152 (GRCm39) Y584F probably damaging Het
Ndufa9 A G 6: 126,826,050 (GRCm39) V9A probably benign Het
Nrcam G T 12: 44,615,329 (GRCm39) V640F possibly damaging Het
Or10x4 C T 1: 174,219,229 (GRCm39) T198I probably benign Het
Or2t48 C A 11: 58,420,473 (GRCm39) G113V probably damaging Het
Or52d1 T C 7: 103,755,720 (GRCm39) M78T probably benign Het
Or5ak23 G A 2: 85,244,848 (GRCm39) A125V probably damaging Het
Pcdhga8 T A 18: 37,860,892 (GRCm39) H649Q probably benign Het
Pdk1 C A 2: 71,730,402 (GRCm39) H413Q probably benign Het
Pfkm T A 15: 98,027,161 (GRCm39) H611Q probably damaging Het
Polr3g T C 13: 81,842,535 (GRCm39) Y160C unknown Het
Ppargc1b A T 18: 61,443,993 (GRCm39) M406K probably benign Het
Ptf1a C T 2: 19,450,536 (GRCm39) probably benign Het
Rc3h2 A T 2: 37,295,264 (GRCm39) C251S possibly damaging Het
Rnf32 A G 5: 29,411,211 (GRCm39) T166A possibly damaging Het
Sav1 A T 12: 70,022,790 (GRCm39) V254E probably damaging Het
Sel1l T C 12: 91,797,526 (GRCm39) N234D probably benign Het
Setd1a C T 7: 127,385,590 (GRCm39) P766S possibly damaging Het
Skida1 T A 2: 18,050,489 (GRCm39) K801* probably null Het
Slc22a5 G A 11: 53,774,547 (GRCm39) T146I probably benign Het
Slc25a24 G T 3: 109,064,268 (GRCm39) A206S possibly damaging Het
Slc39a6 G A 18: 24,733,970 (GRCm39) R240W probably damaging Het
Ssc5d T A 7: 4,930,058 (GRCm39) D46E probably damaging Het
Tekt4 C T 17: 25,690,901 (GRCm39) A69V possibly damaging Het
Tmigd1 T A 11: 76,804,878 (GRCm39) F239Y probably benign Het
Tpp1 T A 7: 105,400,846 (GRCm39) R60S probably benign Het
Trank1 A T 9: 111,196,268 (GRCm39) I1431F probably damaging Het
Trav15-1-dv6-1 G T 14: 53,797,519 (GRCm39) W56L probably damaging Het
Ugt2b38 A G 5: 87,568,396 (GRCm39) S300P probably damaging Het
Urah T A 7: 140,417,587 (GRCm39) L119Q unknown Het
Uspl1 T A 5: 149,141,148 (GRCm39) F382L probably damaging Het
Vps9d1 T A 8: 123,975,574 (GRCm39) Q157L probably damaging Het
Wbp1l G A 19: 46,640,933 (GRCm39) V88I probably benign Het
Zfp444 T C 7: 6,191,157 (GRCm39) S113P probably damaging Het
Zfp580 T G 7: 5,056,152 (GRCm39) S171A possibly damaging Het
Zfp607a A G 7: 27,577,382 (GRCm39) I151V probably benign Het
Zfp827 T C 8: 79,818,564 (GRCm39) F614S probably damaging Het
Zic4 A T 9: 91,260,913 (GRCm39) Q56L 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
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
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'- CGCAAACTCCATTGTCACATG -3'
(R):5'- AGTGGTACCAGATGTCCCTG -3'

Sequencing Primer
(F):5'- CATTGTCACATGGCTGCATCAGG -3'
(R):5'- GGTACCAGATGTCCCTGTCTTCTTAG -3'
Posted On 2022-02-07