Incidental Mutation 'IGL01420:Acap2'
ID80412
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acap2
Ensembl Gene ENSMUSG00000049076
Gene NameArfGAP with coiled-coil, ankyrin repeat and PH domains 2
SynonymsCentb2, 9530039J15Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.156) question?
Stock #IGL01420
Quality Score
Status
Chromosome16
Chromosomal Location31092412-31201245 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 31101819 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058033] [ENSMUST00000229010] [ENSMUST00000230614] [ENSMUST00000230698] [ENSMUST00000231125]
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 M457K probably benign Het
Actr6 A T 10: 89,725,165 probably benign Het
Adamts3 A T 5: 89,703,057 M541K possibly damaging Het
Adgre4 T C 17: 55,799,785 probably benign Het
Anxa6 T C 11: 54,992,363 Y481C probably damaging Het
Apbb1ip A T 2: 22,858,280 I371F possibly damaging Het
Arhgef10l T C 4: 140,570,338 D261G probably damaging Het
Bche T C 3: 73,702,009 H28R probably benign Het
C2cd3 T C 7: 100,454,858 V2026A probably benign Het
Cacna1d C T 14: 30,051,638 V1697I probably benign Het
Celsr2 T C 3: 108,393,763 H2738R probably benign Het
Celsr3 A G 9: 108,841,190 probably null Het
Cep152 A T 2: 125,563,652 D1653E possibly damaging Het
Cfap57 T A 4: 118,612,940 I248F probably benign Het
Clcnka C A 4: 141,389,332 R536L probably benign Het
Dao T A 5: 114,023,820 probably benign Het
Dnajc10 T C 2: 80,345,023 S585P possibly damaging Het
Dysf C T 6: 84,149,759 Q1333* probably null Het
Eps8l2 T A 7: 141,357,663 S397T probably benign Het
Fap A G 2: 62,504,502 probably benign Het
Fbf1 T C 11: 116,145,996 T971A probably benign Het
Fbxl17 C T 17: 63,385,052 V22M probably damaging Het
Fundc2 T C X: 75,390,865 probably benign Het
Heyl C A 4: 123,240,174 Q42K probably damaging Het
Hyal4 A G 6: 24,755,872 K30E probably benign Het
Igsf10 T C 3: 59,319,650 I2201V probably benign Het
Il34 T C 8: 110,742,713 K157E probably damaging Het
Kcnj13 T C 1: 87,389,044 T116A probably damaging Het
Lpl T C 8: 68,887,433 probably benign Het
Mcm6 A G 1: 128,345,875 L406P probably damaging Het
Mst1 G A 9: 108,082,828 R328H probably damaging Het
Nadk2 T C 15: 9,102,984 S308P probably damaging Het
Nae1 G T 8: 104,523,165 Q225K probably benign Het
Ncoa6 G A 2: 155,407,587 P1266S probably damaging Het
Neb A G 2: 52,157,377 Y6485H probably damaging Het
Nin G A 12: 70,045,414 A707V probably benign Het
Nmur1 T C 1: 86,387,391 T218A probably benign Het
Npr3 T C 15: 11,858,632 N135D probably damaging Het
Nup107 A T 10: 117,785,021 L142Q probably damaging Het
Pdgfc T A 3: 81,141,443 S53T probably benign Het
Plxdc2 T A 2: 16,650,139 V232D probably damaging Het
Pou2f2 T C 7: 25,092,952 N493D possibly damaging Het
Rtel1 T C 2: 181,354,401 I750T probably benign Het
Sbk1 A G 7: 126,292,012 probably null Het
Sec24d A G 3: 123,350,009 N603S probably benign Het
Slc38a10 T A 11: 120,106,460 E736V probably damaging Het
Smc6 A G 12: 11,291,658 Y559C probably benign Het
Sprr4 A T 3: 92,500,384 V37E unknown Het
Sptbn2 A G 19: 4,734,125 T632A probably benign Het
Trim31 A G 17: 36,898,411 M20V probably benign Het
Trim65 C A 11: 116,126,509 V376L probably damaging Het
Ttn T C 2: 76,712,076 D25195G probably damaging Het
Tysnd1 A G 10: 61,702,051 T503A possibly damaging Het
Vtn A T 11: 78,499,374 I9L probably benign Het
Zfp398 A G 6: 47,865,934 M175V probably benign Het
Other mutations in Acap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00533:Acap2 APN 16 31139475 missense probably damaging 1.00
IGL01330:Acap2 APN 16 31154677 missense probably damaging 1.00
IGL02064:Acap2 APN 16 31127328 missense probably damaging 1.00
IGL02173:Acap2 APN 16 31108147 missense possibly damaging 0.68
IGL02453:Acap2 APN 16 31131257 splice site probably null
IGL02883:Acap2 APN 16 31096345 unclassified probably benign
IGL03203:Acap2 APN 16 31096345 unclassified probably benign
IGL03342:Acap2 APN 16 31105492 missense probably damaging 1.00
R1251:Acap2 UTSW 16 31108171 missense probably damaging 1.00
R1377:Acap2 UTSW 16 31116051 missense probably damaging 1.00
R1432:Acap2 UTSW 16 31111083 missense probably damaging 1.00
R1546:Acap2 UTSW 16 31104936 nonsense probably null
R1594:Acap2 UTSW 16 31127387 missense probably benign 0.01
R1829:Acap2 UTSW 16 31110934 missense probably damaging 1.00
R1853:Acap2 UTSW 16 31117304 missense probably damaging 1.00
R1970:Acap2 UTSW 16 31133527 critical splice donor site probably null
R2023:Acap2 UTSW 16 31119415 missense probably damaging 0.99
R2086:Acap2 UTSW 16 31110945 missense probably damaging 1.00
R2145:Acap2 UTSW 16 31105524 missense probably benign
R2177:Acap2 UTSW 16 31133528 critical splice donor site probably null
R2214:Acap2 UTSW 16 31108128 missense probably benign 0.19
R2392:Acap2 UTSW 16 31139640 missense probably damaging 0.99
R2438:Acap2 UTSW 16 31117315 missense probably damaging 1.00
R2913:Acap2 UTSW 16 31116069 missense probably damaging 0.99
R4207:Acap2 UTSW 16 31119427 missense probably damaging 0.99
R4274:Acap2 UTSW 16 31108114 missense probably benign 0.01
R4814:Acap2 UTSW 16 31108126 missense probably benign
R4860:Acap2 UTSW 16 31103499 missense possibly damaging 0.92
R4860:Acap2 UTSW 16 31103499 missense possibly damaging 0.92
R5310:Acap2 UTSW 16 31133609 missense probably benign 0.00
R5345:Acap2 UTSW 16 31108126 missense probably benign
R5388:Acap2 UTSW 16 31109725 missense probably damaging 1.00
R5551:Acap2 UTSW 16 31104908 missense probably damaging 1.00
R5578:Acap2 UTSW 16 31108114 missense probably benign 0.00
R6341:Acap2 UTSW 16 31105546 missense possibly damaging 0.86
R6659:Acap2 UTSW 16 31131315 missense probably damaging 0.99
R6977:Acap2 UTSW 16 31117261 missense probably damaging 1.00
R7262:Acap2 UTSW 16 31127319 critical splice donor site probably null
R7304:Acap2 UTSW 16 31108116 missense probably benign 0.05
R7310:Acap2 UTSW 16 31108154 nonsense probably null
R7318:Acap2 UTSW 16 31127337 missense probably damaging 1.00
R7514:Acap2 UTSW 16 31154567 splice site probably null
R7875:Acap2 UTSW 16 31139641 missense probably damaging 0.99
R8256:Acap2 UTSW 16 31139469 critical splice donor site probably null
Posted On2013-11-05