Incidental Mutation 'IGL03342:Acap2'
ID 417253
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 # IGL03342
Quality Score
Status
Chromosome 16
Chromosomal Location 31092412-31201245 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31105492 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 641 (V641A)
Ref Sequence ENSEMBL: ENSMUSP00000154983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058033] [ENSMUST00000229010] [ENSMUST00000230614] [ENSMUST00000230698] [ENSMUST00000231125]
AlphaFold Q6ZQK5
Predicted Effect probably damaging
Transcript: ENSMUST00000058033
AA Change: V623A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000061501
Gene: ENSMUSG00000049076
AA Change: V623A

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: V676A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000230614
AA Change: V641A

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: V648A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G A 11: 110,287,691 T1152M possibly damaging Het
Abcg2 G T 6: 58,665,135 R136I probably damaging Het
Afg3l2 A T 18: 67,407,320 D706E probably benign Het
Bbs1 A T 19: 4,897,593 L311Q probably damaging Het
Cacna1e A G 1: 154,466,944 probably null Het
Car2 A T 3: 14,895,569 D129V probably benign Het
Catsper2 T C 2: 121,406,736 I228V probably damaging Het
Cdhr3 C A 12: 33,051,055 R452M probably benign Het
Chrm1 A T 19: 8,679,308 Q459L probably benign Het
Cnbd1 C T 4: 19,098,264 probably benign Het
Coa7 A G 4: 108,332,229 D42G probably damaging Het
Ctsz T C 2: 174,429,140 Y187C possibly damaging Het
Cxcr6 C T 9: 123,810,407 Q165* probably null Het
Cyp3a11 G A 5: 145,855,117 P489S probably damaging Het
Cyp4f15 A T 17: 32,697,936 I276F probably damaging Het
Dsg1b T A 18: 20,409,460 M1008K probably benign Het
Dsg4 T A 18: 20,451,823 I198N probably damaging Het
Dtymk C A 1: 93,794,819 E87D probably benign Het
Dysf T A 6: 84,190,872 D1749E probably benign Het
Dzip3 G T 16: 48,929,623 Q1050K probably damaging Het
Echs1 C T 7: 140,110,113 probably benign Het
Enc1 T A 13: 97,246,470 I496N possibly damaging Het
Epc2 A T 2: 49,536,646 Y139F probably benign Het
Exo1 A T 1: 175,892,127 N246I probably benign Het
Flg2 A G 3: 93,201,235 K190R probably damaging Het
Gm5424 A T 10: 62,072,192 noncoding transcript Het
Gpbp1l1 A C 4: 116,574,543 T133P probably benign Het
Gpr155 A G 2: 73,349,678 F146S probably damaging Het
Grm1 T A 10: 11,079,971 I190L probably benign Het
Hif3a C T 7: 17,041,122 R515H possibly damaging Het
Kdm5b G A 1: 134,602,576 D442N probably benign Het
Manba A T 3: 135,517,987 I212F possibly damaging Het
Map3k13 A G 16: 21,892,231 E88G possibly damaging Het
Mapk7 A G 11: 61,491,390 L163P probably damaging Het
Med1 A T 11: 98,189,180 probably null Het
Mtrf1 A G 14: 79,415,980 D365G possibly damaging Het
Mtrf1 C T 14: 79,415,871 probably benign Het
Mtrf1 T A 14: 79,415,872 probably null Het
Myadm C T 7: 3,296,887 T55I possibly damaging Het
Nlgn1 A T 3: 26,133,262 I158N probably damaging Het
Nlrc4 A G 17: 74,445,318 L690P probably damaging Het
Nlrp1a A T 11: 71,122,791 D544E probably benign Het
Nlrp2 A T 7: 5,317,483 L20Q probably damaging Het
Olfr1053 A T 2: 86,315,235 I17N possibly damaging Het
Olfr1504 A G 19: 13,887,437 Y258H probably damaging Het
Olfr390 T A 11: 73,787,483 S182T probably benign Het
Padi3 G A 4: 140,810,598 Q4* probably null Het
Pfkl A T 10: 78,005,475 I13K possibly damaging Het
Pinx1 A G 14: 63,919,569 D315G probably benign Het
Prickle3 A G X: 7,663,496 D47G probably benign Het
Psmd10 A T X: 140,956,654 V5E probably damaging Het
Rasgrf2 C A 13: 91,987,979 V605F probably damaging Het
Smarca1 G T X: 47,892,269 A84D probably damaging Het
Sp2 A G 11: 96,961,762 V112A probably damaging Het
Srgap3 G A 6: 112,775,687 R279C probably damaging Het
Ssfa2 G A 2: 79,660,452 M971I probably damaging Het
Trav21-dv12 T C 14: 53,876,044 L10P unknown Het
Vmn1r236 A T 17: 21,286,974 H118L probably benign Het
Vmn2r120 A G 17: 57,509,372 M661T probably benign Het
Vmn2r17 A T 5: 109,427,916 I218F probably damaging Het
Vmn2r41 G T 7: 8,138,683 A594D probably damaging Het
Zc2hc1a A G 3: 7,524,223 E103G possibly damaging Het
Zfp62 G T 11: 49,215,471 G130* probably null 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
IGL01420:Acap2 APN 16 31,101,819 (GRCm38) splice site probably benign
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
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 2016-08-02