Incidental Mutation 'IGL02883:Acap2'
ID 362897
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: 0.150) question?
Stock # IGL02883
Quality Score
Status
Chromosome 16
Chromosomal Location 30911230-31020063 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 30915163 bp (GRCm39)
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 noncoding transcript
Transcript: ENSMUST00000230839
Predicted Effect probably benign
Transcript: ENSMUST00000231125
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C A 19: 3,766,972 (GRCm39) S186R possibly damaging Het
Cacna1h G T 17: 25,599,506 (GRCm39) R1726S probably damaging Het
Cdca2 T C 14: 67,944,946 (GRCm39) S133G probably damaging Het
Cep295nl A T 11: 118,224,735 (GRCm39) S36R probably benign Het
Crispld1 A G 1: 17,817,013 (GRCm39) N190S possibly damaging Het
Crtam A G 9: 40,905,797 (GRCm39) V44A probably benign Het
Crtc1 C T 8: 70,858,775 (GRCm39) G112S probably benign Het
Cyp17a1 T C 19: 46,657,790 (GRCm39) N254S probably benign Het
Dmrta1 T C 4: 89,577,011 (GRCm39) S156P probably benign Het
Eno2 A C 6: 124,743,172 (GRCm39) V188G probably damaging Het
Fam20a A T 11: 109,565,953 (GRCm39) I427N probably damaging Het
Fat2 T C 11: 55,147,444 (GRCm39) K3933E probably benign Het
Igkv8-30 T C 6: 70,094,601 (GRCm39) M1V probably null Het
Ist1 G A 8: 110,410,300 (GRCm39) probably benign Het
Kank4 T C 4: 98,661,690 (GRCm39) E765G possibly damaging Het
Kat14 T C 2: 144,235,449 (GRCm39) L92S probably damaging Het
Kcnu1 G A 8: 26,339,855 (GRCm39) V58I probably benign Het
Lrba T A 3: 86,261,513 (GRCm39) V1489E probably damaging Het
Lrba T A 3: 86,352,720 (GRCm39) I1956N probably damaging Het
Mdn1 G A 4: 32,763,199 (GRCm39) V5100I probably benign Het
Mkrn2os C A 6: 115,563,670 (GRCm39) G122* probably null Het
Nme3 T C 17: 25,115,880 (GRCm39) Y78H probably benign Het
Pira13 A G 7: 3,825,179 (GRCm39) S488P possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Ppp2r5c T G 12: 110,488,997 (GRCm39) V56G possibly damaging Het
Pramel16 T C 4: 143,676,418 (GRCm39) T229A possibly damaging Het
Prdm10 G A 9: 31,238,644 (GRCm39) V179M probably damaging Het
Rab11fip2 A G 19: 59,895,430 (GRCm39) V344A probably damaging Het
Selp G A 1: 163,957,671 (GRCm39) A267T probably benign Het
Sf3a1 T A 11: 4,129,192 (GRCm39) W718R probably damaging Het
Taar9 T C 10: 23,985,378 (GRCm39) N19D probably benign Het
Tas2r113 T G 6: 132,870,382 (GRCm39) S137A probably damaging Het
Traf4 A T 11: 78,052,447 (GRCm39) I66N possibly damaging Het
Ucp3 A T 7: 100,129,849 (GRCm39) T164S probably benign Het
Uggt1 A T 1: 36,216,696 (GRCm39) N96K probably benign Het
Uqcc1 T A 2: 155,753,749 (GRCm39) Q42L possibly damaging Het
Vmn1r128 A G 7: 21,083,440 (GRCm39) K48R probably benign Het
Other mutations in Acap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00533:Acap2 APN 16 30,958,293 (GRCm39) missense probably damaging 1.00
IGL01330:Acap2 APN 16 30,973,495 (GRCm39) missense probably damaging 1.00
IGL01420:Acap2 APN 16 30,920,637 (GRCm39) splice site probably benign
IGL02064:Acap2 APN 16 30,946,146 (GRCm39) missense probably damaging 1.00
IGL02173:Acap2 APN 16 30,926,965 (GRCm39) missense possibly damaging 0.68
IGL02453:Acap2 APN 16 30,950,075 (GRCm39) splice site probably null
IGL03203:Acap2 APN 16 30,915,163 (GRCm39) unclassified probably benign
IGL03342:Acap2 APN 16 30,924,310 (GRCm39) missense probably damaging 1.00
R1251:Acap2 UTSW 16 30,926,989 (GRCm39) missense probably damaging 1.00
R1377:Acap2 UTSW 16 30,934,869 (GRCm39) missense probably damaging 1.00
R1432:Acap2 UTSW 16 30,929,901 (GRCm39) missense probably damaging 1.00
R1546:Acap2 UTSW 16 30,923,754 (GRCm39) nonsense probably null
R1594:Acap2 UTSW 16 30,946,205 (GRCm39) missense probably benign 0.01
R1829:Acap2 UTSW 16 30,929,752 (GRCm39) missense probably damaging 1.00
R1853:Acap2 UTSW 16 30,936,122 (GRCm39) missense probably damaging 1.00
R1970:Acap2 UTSW 16 30,952,345 (GRCm39) critical splice donor site probably null
R2023:Acap2 UTSW 16 30,938,233 (GRCm39) missense probably damaging 0.99
R2086:Acap2 UTSW 16 30,929,763 (GRCm39) missense probably damaging 1.00
R2145:Acap2 UTSW 16 30,924,342 (GRCm39) missense probably benign
R2177:Acap2 UTSW 16 30,952,346 (GRCm39) critical splice donor site probably null
R2214:Acap2 UTSW 16 30,926,946 (GRCm39) missense probably benign 0.19
R2392:Acap2 UTSW 16 30,958,458 (GRCm39) missense probably damaging 0.99
R2438:Acap2 UTSW 16 30,936,133 (GRCm39) missense probably damaging 1.00
R2913:Acap2 UTSW 16 30,934,887 (GRCm39) missense probably damaging 0.99
R4207:Acap2 UTSW 16 30,938,245 (GRCm39) missense probably damaging 0.99
R4274:Acap2 UTSW 16 30,926,932 (GRCm39) missense probably benign 0.01
R4814:Acap2 UTSW 16 30,926,944 (GRCm39) missense probably benign
R4860:Acap2 UTSW 16 30,922,317 (GRCm39) missense possibly damaging 0.92
R4860:Acap2 UTSW 16 30,922,317 (GRCm39) missense possibly damaging 0.92
R5310:Acap2 UTSW 16 30,952,427 (GRCm39) missense probably benign 0.00
R5345:Acap2 UTSW 16 30,926,944 (GRCm39) missense probably benign
R5388:Acap2 UTSW 16 30,928,543 (GRCm39) missense probably damaging 1.00
R5551:Acap2 UTSW 16 30,923,726 (GRCm39) missense probably damaging 1.00
R5578:Acap2 UTSW 16 30,926,932 (GRCm39) missense probably benign 0.00
R6341:Acap2 UTSW 16 30,924,364 (GRCm39) missense possibly damaging 0.86
R6659:Acap2 UTSW 16 30,950,133 (GRCm39) missense probably damaging 0.99
R6977:Acap2 UTSW 16 30,936,079 (GRCm39) missense probably damaging 1.00
R7262:Acap2 UTSW 16 30,946,137 (GRCm39) critical splice donor site probably null
R7304:Acap2 UTSW 16 30,926,934 (GRCm39) missense probably benign 0.05
R7310:Acap2 UTSW 16 30,926,972 (GRCm39) nonsense probably null
R7318:Acap2 UTSW 16 30,946,155 (GRCm39) missense probably damaging 1.00
R7514:Acap2 UTSW 16 30,973,385 (GRCm39) splice site probably null
R7875:Acap2 UTSW 16 30,958,459 (GRCm39) missense probably damaging 0.99
R8256:Acap2 UTSW 16 30,958,287 (GRCm39) critical splice donor site probably null
R9026:Acap2 UTSW 16 30,925,906 (GRCm39) missense probably damaging 0.99
R9177:Acap2 UTSW 16 30,955,392 (GRCm39) missense probably damaging 1.00
R9252:Acap2 UTSW 16 30,920,641 (GRCm39) critical splice donor site probably null
R9268:Acap2 UTSW 16 30,955,392 (GRCm39) missense probably damaging 1.00
R9329:Acap2 UTSW 16 30,946,238 (GRCm39) missense probably damaging 1.00
R9467:Acap2 UTSW 16 30,929,901 (GRCm39) missense possibly damaging 0.54
R9528:Acap2 UTSW 16 30,929,908 (GRCm39) missense possibly damaging 0.75
R9762:Acap2 UTSW 16 30,929,763 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18