Incidental Mutation 'IGL01420:Acap2'
ID 80412
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acap2
Ensembl Gene ENSMUSG00000049076
Gene Name ArfGAP with coiled-coil, ankyrin repeat and PH domains 2
Synonyms Centb2, 9530039J15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # IGL01420
Quality Score
Status
Chromosome 16
Chromosomal Location 31092412-31201245 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 31101819 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058033] [ENSMUST00000229010] [ENSMUST00000230614] [ENSMUST00000230698] [ENSMUST00000231125]
AlphaFold Q6ZQK5
Predicted Effect probably benign
Transcript: ENSMUST00000058033
SMART Domains Protein: ENSMUSP00000061501
Gene: ENSMUSG00000049076

DomainStartEndE-ValueType
Pfam:BAR_3 5 238 9.1e-96 PFAM
PH 267 363 1.73e-17 SMART
ArfGap 399 520 2.23e-63 SMART
ANK 632 661 6.71e-2 SMART
ANK 665 694 3.04e0 SMART
ANK 698 727 6.64e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000229010
Predicted Effect probably benign
Transcript: ENSMUST00000230614
Predicted Effect probably benign
Transcript: ENSMUST00000230698
Predicted Effect probably benign
Transcript: ENSMUST00000231125
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik T A 7: 28,140,133 (GRCm38) M457K probably benign Het
Actr6 A T 10: 89,725,165 (GRCm38) probably benign Het
Adamts3 A T 5: 89,703,057 (GRCm38) M541K possibly damaging Het
Adgre4 T C 17: 55,799,785 (GRCm38) probably benign Het
Anxa6 T C 11: 54,992,363 (GRCm38) Y481C probably damaging Het
Apbb1ip A T 2: 22,858,280 (GRCm38) I371F possibly damaging Het
Arhgef10l T C 4: 140,570,338 (GRCm38) D261G probably damaging Het
Bche T C 3: 73,702,009 (GRCm38) H28R probably benign Het
C2cd3 T C 7: 100,454,858 (GRCm38) V2026A probably benign Het
Cacna1d C T 14: 30,051,638 (GRCm38) V1697I probably benign Het
Celsr2 T C 3: 108,393,763 (GRCm38) H2738R probably benign Het
Celsr3 A G 9: 108,841,190 (GRCm38) probably null Het
Cep152 A T 2: 125,563,652 (GRCm38) D1653E possibly damaging Het
Cfap57 T A 4: 118,612,940 (GRCm38) I248F probably benign Het
Clcnka C A 4: 141,389,332 (GRCm38) R536L probably benign Het
Dao T A 5: 114,023,820 (GRCm38) probably benign Het
Dnajc10 T C 2: 80,345,023 (GRCm38) S585P possibly damaging Het
Dysf C T 6: 84,149,759 (GRCm38) Q1333* probably null Het
Eps8l2 T A 7: 141,357,663 (GRCm38) S397T probably benign Het
Fap A G 2: 62,504,502 (GRCm38) probably benign Het
Fbf1 T C 11: 116,145,996 (GRCm38) T971A probably benign Het
Fbxl17 C T 17: 63,385,052 (GRCm38) V22M probably damaging Het
Fundc2 T C X: 75,390,865 (GRCm38) probably benign Het
Heyl C A 4: 123,240,174 (GRCm38) Q42K probably damaging Het
Hyal4 A G 6: 24,755,872 (GRCm38) K30E probably benign Het
Igsf10 T C 3: 59,319,650 (GRCm38) I2201V probably benign Het
Il34 T C 8: 110,742,713 (GRCm38) K157E probably damaging Het
Kcnj13 T C 1: 87,389,044 (GRCm38) T116A probably damaging Het
Lpl T C 8: 68,887,433 (GRCm38) probably benign Het
Mcm6 A G 1: 128,345,875 (GRCm38) L406P probably damaging Het
Mst1 G A 9: 108,082,828 (GRCm38) R328H probably damaging Het
Nadk2 T C 15: 9,102,984 (GRCm38) S308P probably damaging Het
Nae1 G T 8: 104,523,165 (GRCm38) Q225K probably benign Het
Ncoa6 G A 2: 155,407,587 (GRCm38) P1266S probably damaging Het
Neb A G 2: 52,157,377 (GRCm38) Y6485H probably damaging Het
Nin G A 12: 70,045,414 (GRCm38) A707V probably benign Het
Nmur1 T C 1: 86,387,391 (GRCm38) T218A probably benign Het
Npr3 T C 15: 11,858,632 (GRCm38) N135D probably damaging Het
Nup107 A T 10: 117,785,021 (GRCm38) L142Q probably damaging Het
Pdgfc T A 3: 81,141,443 (GRCm38) S53T probably benign Het
Plxdc2 T A 2: 16,650,139 (GRCm38) V232D probably damaging Het
Pou2f2 T C 7: 25,092,952 (GRCm38) N493D possibly damaging Het
Rtel1 T C 2: 181,354,401 (GRCm38) I750T probably benign Het
Sbk1 A G 7: 126,292,012 (GRCm38) probably null Het
Sec24d A G 3: 123,350,009 (GRCm38) N603S probably benign Het
Slc38a10 T A 11: 120,106,460 (GRCm38) E736V probably damaging Het
Smc6 A G 12: 11,291,658 (GRCm38) Y559C probably benign Het
Sprr4 A T 3: 92,500,384 (GRCm38) V37E unknown Het
Sptbn2 A G 19: 4,734,125 (GRCm38) T632A probably benign Het
Trim31 A G 17: 36,898,411 (GRCm38) M20V probably benign Het
Trim65 C A 11: 116,126,509 (GRCm38) V376L probably damaging Het
Ttn T C 2: 76,712,076 (GRCm38) D25195G probably damaging Het
Tysnd1 A G 10: 61,702,051 (GRCm38) T503A possibly damaging Het
Vtn A T 11: 78,499,374 (GRCm38) I9L probably benign Het
Zfp398 A G 6: 47,865,934 (GRCm38) M175V probably benign Het
Other mutations in Acap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00533:Acap2 APN 16 31,139,475 (GRCm38) missense probably damaging 1.00
IGL01330:Acap2 APN 16 31,154,677 (GRCm38) missense probably damaging 1.00
IGL02064:Acap2 APN 16 31,127,328 (GRCm38) missense probably damaging 1.00
IGL02173:Acap2 APN 16 31,108,147 (GRCm38) missense possibly damaging 0.68
IGL02453:Acap2 APN 16 31,131,257 (GRCm38) splice site probably null
IGL02883:Acap2 APN 16 31,096,345 (GRCm38) unclassified probably benign
IGL03203:Acap2 APN 16 31,096,345 (GRCm38) unclassified probably benign
IGL03342:Acap2 APN 16 31,105,492 (GRCm38) missense probably damaging 1.00
R1251:Acap2 UTSW 16 31,108,171 (GRCm38) missense probably damaging 1.00
R1377:Acap2 UTSW 16 31,116,051 (GRCm38) missense probably damaging 1.00
R1432:Acap2 UTSW 16 31,111,083 (GRCm38) missense probably damaging 1.00
R1546:Acap2 UTSW 16 31,104,936 (GRCm38) nonsense probably null
R1594:Acap2 UTSW 16 31,127,387 (GRCm38) missense probably benign 0.01
R1829:Acap2 UTSW 16 31,110,934 (GRCm38) missense probably damaging 1.00
R1853:Acap2 UTSW 16 31,117,304 (GRCm38) missense probably damaging 1.00
R1970:Acap2 UTSW 16 31,133,527 (GRCm38) critical splice donor site probably null
R2023:Acap2 UTSW 16 31,119,415 (GRCm38) missense probably damaging 0.99
R2086:Acap2 UTSW 16 31,110,945 (GRCm38) missense probably damaging 1.00
R2145:Acap2 UTSW 16 31,105,524 (GRCm38) missense probably benign
R2177:Acap2 UTSW 16 31,133,528 (GRCm38) critical splice donor site probably null
R2214:Acap2 UTSW 16 31,108,128 (GRCm38) missense probably benign 0.19
R2392:Acap2 UTSW 16 31,139,640 (GRCm38) missense probably damaging 0.99
R2438:Acap2 UTSW 16 31,117,315 (GRCm38) missense probably damaging 1.00
R2913:Acap2 UTSW 16 31,116,069 (GRCm38) missense probably damaging 0.99
R4207:Acap2 UTSW 16 31,119,427 (GRCm38) missense probably damaging 0.99
R4274:Acap2 UTSW 16 31,108,114 (GRCm38) missense probably benign 0.01
R4814:Acap2 UTSW 16 31,108,126 (GRCm38) missense probably benign
R4860:Acap2 UTSW 16 31,103,499 (GRCm38) missense possibly damaging 0.92
R4860:Acap2 UTSW 16 31,103,499 (GRCm38) missense possibly damaging 0.92
R5310:Acap2 UTSW 16 31,133,609 (GRCm38) missense probably benign 0.00
R5345:Acap2 UTSW 16 31,108,126 (GRCm38) missense probably benign
R5388:Acap2 UTSW 16 31,109,725 (GRCm38) missense probably damaging 1.00
R5551:Acap2 UTSW 16 31,104,908 (GRCm38) missense probably damaging 1.00
R5578:Acap2 UTSW 16 31,108,114 (GRCm38) missense probably benign 0.00
R6341:Acap2 UTSW 16 31,105,546 (GRCm38) missense possibly damaging 0.86
R6659:Acap2 UTSW 16 31,131,315 (GRCm38) missense probably damaging 0.99
R6977:Acap2 UTSW 16 31,117,261 (GRCm38) missense probably damaging 1.00
R7262:Acap2 UTSW 16 31,127,319 (GRCm38) critical splice donor site probably null
R7304:Acap2 UTSW 16 31,108,116 (GRCm38) missense probably benign 0.05
R7310:Acap2 UTSW 16 31,108,154 (GRCm38) nonsense probably null
R7318:Acap2 UTSW 16 31,127,337 (GRCm38) missense probably damaging 1.00
R7514:Acap2 UTSW 16 31,154,567 (GRCm38) splice site probably null
R7875:Acap2 UTSW 16 31,139,641 (GRCm38) missense probably damaging 0.99
R8256:Acap2 UTSW 16 31,139,469 (GRCm38) critical splice donor site probably null
R9026:Acap2 UTSW 16 31,107,088 (GRCm38) missense probably damaging 0.99
R9177:Acap2 UTSW 16 31,136,574 (GRCm38) missense probably damaging 1.00
R9252:Acap2 UTSW 16 31,101,823 (GRCm38) critical splice donor site probably null
R9268:Acap2 UTSW 16 31,136,574 (GRCm38) missense probably damaging 1.00
R9329:Acap2 UTSW 16 31,127,420 (GRCm38) missense probably damaging 1.00
R9467:Acap2 UTSW 16 31,111,083 (GRCm38) missense possibly damaging 0.54
R9528:Acap2 UTSW 16 31,111,090 (GRCm38) missense possibly damaging 0.75
R9762:Acap2 UTSW 16 31,110,945 (GRCm38) missense probably damaging 1.00
Posted On 2013-11-05