Incidental Mutation 'R2086:Acap2'
ID 230034
Institutional Source Beutler Lab
Gene Symbol Acap2
Ensembl Gene ENSMUSG00000049076
Gene Name ArfGAP with coiled-coil, ankyrin repeat and PH domains 2
Synonyms Centb2, 9530039J15Rik
MMRRC Submission 040091-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R2086 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 30911230-31020063 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 30929763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Proline at position 432 (A432P)
Ref Sequence ENSEMBL: ENSMUSP00000154852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058033] [ENSMUST00000229010] [ENSMUST00000230614] [ENSMUST00000230698] [ENSMUST00000231125]
AlphaFold Q6ZQK5
Predicted Effect probably damaging
Transcript: ENSMUST00000058033
AA Change: A407P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061501
Gene: ENSMUSG00000049076
AA Change: A407P

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 damaging
Transcript: ENSMUST00000229010
AA Change: A425P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000230614
AA Change: A425P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000230698
Predicted Effect probably damaging
Transcript: ENSMUST00000231125
AA Change: A432P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9678 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 99% (80/81)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533L02Rik T C 7: 124,917,767 (GRCm39) M53T unknown Het
Abcb11 T A 2: 69,089,820 (GRCm39) probably benign Het
Adamtsl1 A G 4: 86,146,249 (GRCm39) R302G probably damaging Het
Aoc1l1 A G 6: 48,954,536 (GRCm39) E558G probably damaging Het
Ap2b1 T G 11: 83,241,944 (GRCm39) S608A possibly damaging Het
Atp13a3 T A 16: 30,171,116 (GRCm39) T310S possibly damaging Het
Atp6v1b1 T C 6: 83,734,834 (GRCm39) V382A probably benign Het
Atp6v1g1 T A 4: 63,468,304 (GRCm39) F102L probably benign Het
B430306N03Rik T A 17: 48,623,810 (GRCm39) V37D probably damaging Het
Cacna1d T C 14: 29,769,314 (GRCm39) Y1872C possibly damaging Het
Carf T A 1: 60,148,570 (GRCm39) Y54N probably damaging Het
Cct5 T C 15: 31,594,349 (GRCm39) E256G probably damaging Het
Cd5 A G 19: 10,700,620 (GRCm39) S295P probably benign Het
Cenpb T C 2: 131,020,517 (GRCm39) probably benign Het
Cntnap3 A G 13: 64,942,076 (GRCm39) M218T possibly damaging Het
Colec11 C T 12: 28,644,786 (GRCm39) R236H probably damaging Het
Crem T A 18: 3,288,098 (GRCm39) probably benign Het
Csnk2a1 A G 2: 152,096,201 (GRCm39) N58S probably benign Het
Cyp2a4 T G 7: 26,011,733 (GRCm39) M318R probably damaging Het
Dhrs1 T A 14: 55,981,116 (GRCm39) Q98L probably null Het
Dnah11 G T 12: 118,077,606 (GRCm39) Q1296K possibly damaging Het
Edc4 T A 8: 106,614,634 (GRCm39) D105E probably damaging Het
Eid2b C T 7: 27,977,198 (GRCm39) probably benign Het
Exoc1 A T 5: 76,680,693 (GRCm39) K28* probably null Het
Fam114a1 A G 5: 65,137,402 (GRCm39) D115G probably benign Het
Fam151a A T 4: 106,592,760 (GRCm39) probably null Het
Gc T C 5: 89,586,201 (GRCm39) Y313C probably damaging Het
Gdpd1 A G 11: 86,926,094 (GRCm39) Y284H probably benign Het
Gm21957 T A 7: 124,818,878 (GRCm39) noncoding transcript Het
Golm1 G A 13: 59,792,999 (GRCm39) Q169* probably null Het
Greb1l T C 18: 10,523,281 (GRCm39) V813A probably damaging Het
Itih1 C T 14: 30,659,800 (GRCm39) A279T probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lama1 T C 17: 68,124,618 (GRCm39) C2893R probably damaging Het
Lama3 T A 18: 12,657,887 (GRCm39) N334K probably benign Het
Loxhd1 A G 18: 77,472,642 (GRCm39) D1053G probably damaging Het
Map3k20 A G 2: 72,228,729 (GRCm39) K316R probably benign Het
Mapre3 A C 5: 31,020,546 (GRCm39) probably null Het
Mgam T A 6: 40,737,962 (GRCm39) probably null Het
Mical2 A C 7: 111,917,810 (GRCm39) H389P probably benign Het
Mtmr2 A G 9: 13,711,248 (GRCm39) D347G probably damaging Het
Nbeal2 G A 9: 110,463,139 (GRCm39) L1309F probably benign Het
Nid2 G A 14: 19,828,111 (GRCm39) G516S probably benign Het
Nodal A T 10: 61,259,077 (GRCm39) E171D possibly damaging Het
Notch2 T C 3: 98,009,683 (GRCm39) S537P probably damaging Het
Obox6 A G 7: 15,567,532 (GRCm39) L305S probably damaging Het
Obscn T C 11: 58,969,082 (GRCm39) D2715G probably damaging Het
Or4k1 T A 14: 50,377,580 (GRCm39) N172I probably damaging Het
Or5g26 A C 2: 85,494,090 (GRCm39) S229R probably benign Het
Pcca T C 14: 122,923,527 (GRCm39) S404P probably damaging Het
Pcdh10 T C 3: 45,334,906 (GRCm39) S407P probably damaging Het
Plekha5 C A 6: 140,516,044 (GRCm39) probably null Het
Ptdss1 A G 13: 67,101,619 (GRCm39) N72S probably benign Het
Ptprs T C 17: 56,761,984 (GRCm39) I43V probably null Het
Pygm G A 19: 6,441,511 (GRCm39) probably null Het
Rab7 C T 6: 87,989,300 (GRCm39) V57I probably benign Het
Rasl10a A G 11: 5,009,431 (GRCm39) probably null Het
Rergl T C 6: 139,471,832 (GRCm39) T106A probably benign Het
Rnf17 T G 14: 56,720,837 (GRCm39) V1023G probably damaging Het
Rnf25 T A 1: 74,633,126 (GRCm39) R409W probably damaging Het
Rps6ka1 T C 4: 133,600,280 (GRCm39) M1V probably null Het
Rps6ka5 T C 12: 100,585,874 (GRCm39) T140A possibly damaging Het
Sbno2 T A 10: 79,893,690 (GRCm39) I1204F possibly damaging Het
Serpina16 A T 12: 103,641,521 (GRCm39) I68N probably damaging Het
Slc35a5 A G 16: 44,964,628 (GRCm39) S202P probably damaging Het
Slc35g3 G C 11: 69,651,772 (GRCm39) S93W probably damaging Het
Slc49a3 C T 5: 108,593,487 (GRCm39) R117H probably damaging Het
Smc1b A G 15: 85,006,052 (GRCm39) probably benign Het
Spag1 T C 15: 36,227,287 (GRCm39) L648P probably damaging Het
Tagap1 T C 17: 7,224,102 (GRCm39) D198G probably benign Het
Tedc2 T C 17: 24,436,874 (GRCm39) E287G probably damaging Het
Tjp1 C A 7: 64,962,669 (GRCm39) R1089S probably damaging Het
Tnrc6a CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT 7: 122,761,669 (GRCm39) probably benign Het
Ttc38 T A 15: 85,722,928 (GRCm39) D125E probably benign Het
Uggt1 C T 1: 36,231,495 (GRCm39) R490Q probably null Het
Uroc1 T G 6: 90,321,096 (GRCm39) L224R probably damaging Het
Vmn1r228 A T 17: 20,997,455 (GRCm39) I21N possibly damaging Het
Vmn2r102 T G 17: 19,896,949 (GRCm39) L99V probably damaging Het
Vps13c C T 9: 67,857,571 (GRCm39) S2601F probably benign Het
Zfp462 T C 4: 55,010,830 (GRCm39) L932P probably damaging 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
IGL02883:Acap2 APN 16 30,915,163 (GRCm39) unclassified probably benign
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
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
Predicted Primers PCR Primer
(F):5'- ATGGATCCTCTGTGGTCATTAATG -3'
(R):5'- TGCAGCAAGTTCTTATGGTCC -3'

Sequencing Primer
(F):5'- ATGATGAACCAAAGTCATCAAAAAC -3'
(R):5'- GGTCCTTTATGAAAAGCAGTAAACC -3'
Posted On 2014-09-18