Incidental Mutation 'R7318:Acap2'
ID 565677
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 045414-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R7318 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 30911230-31020063 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30946155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 263 (F263L)
Ref Sequence ENSEMBL: ENSMUSP00000061501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058033] [ENSMUST00000229010] [ENSMUST00000230614] [ENSMUST00000230698] [ENSMUST00000231125]
AlphaFold Q6ZQK5
Predicted Effect probably damaging
Transcript: ENSMUST00000058033
AA Change: F263L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061501
Gene: ENSMUSG00000049076
AA Change: F263L

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 possibly damaging
Transcript: ENSMUST00000229010
AA Change: F281L

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000230614
AA Change: F281L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000230698
Predicted Effect possibly damaging
Transcript: ENSMUST00000231125
AA Change: F281L

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik T C 7: 40,643,111 (GRCm39) L260S probably benign Het
9130230L23Rik A T 5: 66,145,771 (GRCm39) S113R unknown Het
Abcc5 G A 16: 20,211,293 (GRCm39) P557S probably benign Het
Acad11 A G 9: 103,958,466 (GRCm39) T245A probably damaging Het
Ankle2 A T 5: 110,385,632 (GRCm39) N327I probably benign Het
Appl1 T C 14: 26,685,617 (GRCm39) E67G probably benign Het
Arfgef3 A T 10: 18,506,211 (GRCm39) C864S possibly damaging Het
Arhgap20 A G 9: 51,751,802 (GRCm39) I418V probably benign Het
Arhgef2 A T 3: 88,539,610 (GRCm39) N102Y probably damaging Het
Car9 G T 4: 43,513,089 (GRCm39) E431D probably damaging Het
Cbfa2t2 T C 2: 154,342,374 (GRCm39) I30T probably benign Het
Cd40 A T 2: 164,904,255 (GRCm39) D34V possibly damaging Het
Chrnb2 T A 3: 89,670,674 (GRCm39) probably null Het
Chsy1 T G 7: 65,759,977 (GRCm39) probably null Het
Cpne6 A G 14: 55,751,751 (GRCm39) T245A possibly damaging Het
Cpsf1 T A 15: 76,481,475 (GRCm39) K1159* probably null Het
Crisp1 T A 17: 40,618,668 (GRCm39) E64D possibly damaging Het
D3Ertd751e A G 3: 41,756,986 (GRCm39) probably null Het
Dennd11 A G 6: 40,386,098 (GRCm39) V333A possibly damaging Het
Dnah7b T A 1: 46,234,532 (GRCm39) L1488Q probably damaging Het
Dnm2 G A 9: 21,416,863 (GRCm39) G799R possibly damaging Het
Elp2 G A 18: 24,739,956 (GRCm39) V61I probably damaging Het
Epb41l3 T C 17: 69,573,135 (GRCm39) L388P Het
Fry A T 5: 150,360,458 (GRCm39) S2035C probably damaging Het
Gas8 T C 8: 124,257,707 (GRCm39) F385L probably benign Het
Ghsr T C 3: 27,426,616 (GRCm39) V224A possibly damaging Het
Gstp2 T A 19: 4,091,065 (GRCm39) R85W probably benign Het
Ighv1-20 T A 12: 114,687,810 (GRCm39) I6F possibly damaging Het
Inpp4b T A 8: 82,798,374 (GRCm39) M854K probably damaging Het
Kif15 A G 9: 122,817,014 (GRCm39) E538G probably damaging Het
Large2 T C 2: 92,196,373 (GRCm39) T485A probably benign Het
Lmo3 T A 6: 138,398,363 (GRCm39) probably benign Het
Lyg1 G A 1: 37,988,936 (GRCm39) P95S probably benign Het
Lyst A G 13: 13,932,028 (GRCm39) H3552R probably benign Het
Mtif2 C T 11: 29,490,115 (GRCm39) S385L probably benign Het
Muc4 A T 16: 32,575,710 (GRCm39) I1737F unknown Het
Mug1 T C 6: 121,847,611 (GRCm39) probably null Het
Mx1 G T 16: 97,253,286 (GRCm39) Q350K probably benign Het
Mylk3 G T 8: 86,085,726 (GRCm39) D269E probably benign Het
Myo3a A T 2: 22,448,332 (GRCm39) K974* probably null Het
Nectin4 G T 1: 171,208,031 (GRCm39) R141L probably benign Het
Nlgn2 T C 11: 69,716,795 (GRCm39) H582R probably damaging Het
Or51ab3 T A 7: 103,201,298 (GRCm39) M102K probably damaging Het
Or51e1 T A 7: 102,359,226 (GRCm39) Y253* probably null Het
Pi16 C A 17: 29,538,208 (GRCm39) P7Q possibly damaging Het
Psmd11 C A 11: 80,347,128 (GRCm39) L171I probably benign Het
Rad54l A G 4: 115,967,906 (GRCm39) V152A possibly damaging Het
Ranbp2 T A 10: 58,318,909 (GRCm39) Y2473* probably null Het
Sertad1 T C 7: 27,188,910 (GRCm39) I77T possibly damaging Het
Sesn3 A T 9: 14,219,873 (GRCm39) E87D probably damaging Het
Slc30a5 A T 13: 100,950,477 (GRCm39) S260R probably benign Het
Slc6a12 G A 6: 121,328,972 (GRCm39) G111S probably damaging Het
Slc6a12 T C 6: 121,328,978 (GRCm39) Y113H probably benign Het
Spag17 T G 3: 99,847,299 (GRCm39) M76R probably benign Het
Spata31f3 TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG 4: 42,871,823 (GRCm39) probably benign Het
Stard13 G A 5: 150,986,038 (GRCm39) Q491* probably null Het
Synpo2 T C 3: 122,910,968 (GRCm39) S226G probably benign Het
Tada2b G A 5: 36,641,331 (GRCm39) T24I probably benign Het
Tafa1 T C 6: 96,092,737 (GRCm39) probably null Het
Tmem51 TCCCC TCCC 4: 141,764,996 (GRCm39) probably null Het
Tnnt1 T A 7: 4,513,547 (GRCm39) probably null Het
Usp17lb T C 7: 104,490,340 (GRCm39) I196V probably benign Het
Utp20 T A 10: 88,649,811 (GRCm39) K466N possibly damaging Het
Wdr46 T C 17: 34,160,859 (GRCm39) probably null Het
Zfp287 T A 11: 62,605,104 (GRCm39) Q601L probably damaging Het
Zfp410 T C 12: 84,372,464 (GRCm39) S97P 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
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
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
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'- GCTCTCTCCTTAAAGCCGTAAG -3'
(R):5'- GCCGAAACTGTTAATGTGCTG -3'

Sequencing Primer
(F):5'- TTGGTAATTACAGGGAAAGG -3'
(R):5'- CAGAAGTCTGACTCCAAACTTTTC -3'
Posted On 2019-06-26