Incidental Mutation 'R9689:Apc2'
ID 729055
Institutional Source Beutler Lab
Gene Symbol Apc2
Ensembl Gene ENSMUSG00000020135
Gene Name APC regulator of WNT signaling pathway 2
Synonyms APCL
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R9689 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 80131811-80154097 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80150733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 1929 (R1929Q)
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: R1900Q

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020349
Gene: ENSMUSG00000020135
AA Change: R1900Q

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: R1929Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100996
Gene: ENSMUSG00000020135
AA Change: R1929Q

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: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 T A 5: 81,942,780 (GRCm39) V1538E probably damaging Het
Ank1 T C 8: 23,631,253 (GRCm39) V1833A probably benign Het
Asb1 A G 1: 91,474,708 (GRCm39) I85V probably damaging Het
Bco2 A T 9: 50,445,938 (GRCm39) I486K probably damaging Het
Braf T A 6: 39,591,084 (GRCm39) I792F probably damaging Het
Cacng2 T C 15: 77,879,399 (GRCm39) K308E possibly damaging Het
Ccr6 G T 17: 8,475,821 (GRCm39) R342L possibly damaging Het
Cdh16 T A 8: 105,341,108 (GRCm39) I802F probably benign Het
Cftr T C 6: 18,313,649 (GRCm39) I1291T probably damaging Het
CN725425 T A 15: 91,120,030 (GRCm39) D50E possibly damaging Het
Cnga1 T C 5: 72,762,170 (GRCm39) Y448C probably benign Het
Cntnap1 T C 11: 101,072,178 (GRCm39) I477T probably damaging Het
Col18a1 G A 10: 76,916,578 (GRCm39) Q366* probably null Het
Csf3 C A 11: 98,592,949 (GRCm39) A104D probably benign Het
Dmbt1 A G 7: 130,660,015 (GRCm39) H422R unknown Het
Dnah12 A G 14: 26,590,871 (GRCm39) D3325G probably null Het
Dnah17 T C 11: 117,963,731 (GRCm39) D2514G probably damaging Het
Fgf9 T A 14: 58,310,680 (GRCm39) H56Q probably damaging Het
Fgfr3 A T 5: 33,892,248 (GRCm39) Y689F probably damaging Het
Fhip2a G A 19: 57,369,710 (GRCm39) V418I probably benign Het
Gar1 A T 3: 129,624,269 (GRCm39) D74E probably damaging Het
Helq T C 5: 100,934,927 (GRCm39) K488E possibly damaging Het
Hmg20a A G 9: 56,381,823 (GRCm39) H33R possibly damaging Het
Igsf10 T C 3: 59,233,624 (GRCm39) D1703G probably damaging Het
Jph3 A T 8: 122,480,377 (GRCm39) I352F probably benign Het
Kng1 T C 16: 22,879,224 (GRCm39) F96S probably damaging Het
Krtap5-2 C A 7: 141,729,029 (GRCm39) S217I unknown Het
Lamp3 T C 16: 19,518,455 (GRCm39) S261G possibly damaging Het
Macf1 A G 4: 123,365,654 (GRCm39) F3036L probably benign Het
Map4k4 G A 1: 40,058,722 (GRCm39) R972H possibly damaging Het
Mccc1 C T 3: 36,030,903 (GRCm39) D388N probably benign Het
Mcoln1 T A 8: 3,557,436 (GRCm39) Y147* probably null Het
Mei1 T C 15: 81,997,129 (GRCm39) S622P Het
Ms4a5 T C 19: 11,254,058 (GRCm39) I136M possibly damaging Het
Nav3 A G 10: 109,605,034 (GRCm39) L1013P probably damaging Het
Ndrg2 T C 14: 52,146,071 (GRCm39) N170S probably damaging Het
Ndufa12 G A 10: 94,035,832 (GRCm39) G40D probably damaging Het
Ogdhl T A 14: 32,059,523 (GRCm39) V390E probably damaging Het
Or10ak12 A C 4: 118,666,999 (GRCm39) S21A probably benign Het
Or1e26 T C 11: 73,479,686 (GRCm39) R293G probably damaging Het
Or4d10 A T 19: 12,051,567 (GRCm39) I143K possibly damaging Het
Or4f6 T A 2: 111,839,124 (GRCm39) M136L probably benign Het
Or8g37 A T 9: 39,731,801 (GRCm39) I289F possibly damaging Het
Osgin1 A G 8: 120,172,247 (GRCm39) D347G possibly damaging Het
Oxct2a A T 4: 123,216,687 (GRCm39) N231K probably damaging Het
Pak6 C T 2: 118,520,243 (GRCm39) T78M probably benign Het
Pde4dip T C 3: 97,649,841 (GRCm39) Y1006C probably damaging Het
Psg18 A G 7: 18,084,880 (GRCm39) I193T probably benign Het
Psmd2 C A 16: 20,479,173 (GRCm39) H677Q probably benign Het
Resf1 T A 6: 149,229,766 (GRCm39) C937* probably null Het
Scaf11 C T 15: 96,316,195 (GRCm39) R1123H probably damaging Het
Setx A T 2: 29,051,555 (GRCm39) S2036C probably damaging Het
Skint6 A G 4: 113,093,546 (GRCm39) F199S probably damaging Het
Slc3a2 A T 19: 8,686,594 (GRCm39) S367R probably damaging Het
Spidr T C 16: 15,871,304 (GRCm39) D222G probably damaging Het
Styxl1 T C 5: 135,799,190 (GRCm39) E8G probably null Het
Sycp2l T A 13: 41,295,256 (GRCm39) F308I probably damaging Het
Syk A C 13: 52,778,808 (GRCm39) K298T probably benign Het
Tcp11 T A 17: 28,286,028 (GRCm39) Q529L possibly damaging Het
Tgfbi A G 13: 56,762,100 (GRCm39) Y61C probably damaging Het
Tlr9 G A 9: 106,100,721 (GRCm39) R4H probably benign Het
Top2a A C 11: 98,914,883 (GRCm39) S4A probably benign Het
Ttc4 G T 4: 106,528,919 (GRCm39) H166N probably benign Het
Ube2o C A 11: 116,435,639 (GRCm39) R383L possibly damaging Het
Umod A G 7: 119,076,517 (GRCm39) V83A 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
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
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'- CGTCCTCAAGCTCTTCACAGAC -3'
(R):5'- CAGAGGACAGCTCTGATCTG -3'

Sequencing Primer
(F):5'- AGCTCTTCACAGACCTCTCCAG -3'
(R):5'- AAGTCAGCTGTCTTCGGAAGC -3'
Posted On 2022-10-06