Incidental Mutation 'R1970:Acap2'
ID 219821
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 039983-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R1970 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 31092412-31201245 bp(-) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 31133527 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058033] [ENSMUST00000058033] [ENSMUST00000058033] [ENSMUST00000058033] [ENSMUST00000229010] [ENSMUST00000229010] [ENSMUST00000229010] [ENSMUST00000229010] [ENSMUST00000230614] [ENSMUST00000230614] [ENSMUST00000230614] [ENSMUST00000230614] [ENSMUST00000230698] [ENSMUST00000231125] [ENSMUST00000231125] [ENSMUST00000231125] [ENSMUST00000231125]
AlphaFold Q6ZQK5
Predicted Effect probably null
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 null
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 null
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 null
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 null
Transcript: ENSMUST00000229010
Predicted Effect probably null
Transcript: ENSMUST00000229010
Predicted Effect probably null
Transcript: ENSMUST00000229010
Predicted Effect probably null
Transcript: ENSMUST00000229010
Predicted Effect probably null
Transcript: ENSMUST00000230614
Predicted Effect probably null
Transcript: ENSMUST00000230614
Predicted Effect probably null
Transcript: ENSMUST00000230614
Predicted Effect probably null
Transcript: ENSMUST00000230614
Predicted Effect probably benign
Transcript: ENSMUST00000230698
Predicted Effect probably null
Transcript: ENSMUST00000231125
Predicted Effect probably null
Transcript: ENSMUST00000231125
Predicted Effect probably null
Transcript: ENSMUST00000231125
Predicted Effect probably null
Transcript: ENSMUST00000231125
Meta Mutation Damage Score 0.9594 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 97% (121/125)
Allele List at MGI
Other mutations in this stock
Total: 121 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,307,575 (GRCm38) H578Q probably benign Het
Abcc12 A G 8: 86,527,281 (GRCm38) I958T probably benign Het
Abcg5 AATCATTTG AG 17: 84,673,602 (GRCm38) probably null Het
Adgrb1 T C 15: 74,539,877 (GRCm38) probably benign Het
Akap6 T A 12: 52,938,475 (GRCm38) V897E probably damaging Het
Als2 A T 1: 59,215,169 (GRCm38) L343Q probably benign Het
Arhgap5 A G 12: 52,542,593 (GRCm38) I1275M probably damaging Het
Arnt C T 3: 95,448,393 (GRCm38) S16L possibly damaging Het
Bglap3 C T 3: 88,376,993 (GRCm38) probably benign Het
Blnk T C 19: 40,940,165 (GRCm38) probably benign Het
C1qtnf4 T C 2: 90,889,659 (GRCm38) M92T probably damaging Het
C77080 A G 4: 129,226,017 (GRCm38) probably benign Het
Ccdc177 G A 12: 80,758,712 (GRCm38) R263C unknown Het
Ccdc83 T A 7: 90,244,154 (GRCm38) S132C probably damaging Het
Cdc7 A G 5: 106,973,074 (GRCm38) probably benign Het
Cgnl1 T A 9: 71,725,535 (GRCm38) N178I probably benign Het
Col27a1 C T 4: 63,273,117 (GRCm38) probably benign Het
Col5a1 A T 2: 27,986,754 (GRCm38) M822L unknown Het
Coro7 T C 16: 4,633,756 (GRCm38) I451V probably benign Het
Csmd3 T C 15: 48,673,531 (GRCm38) T92A probably damaging Het
Ddc A G 11: 11,815,292 (GRCm38) V460A possibly damaging Het
Ddx4 C T 13: 112,600,013 (GRCm38) V608I probably damaging Het
Ddx60 A T 8: 61,972,206 (GRCm38) H676L possibly damaging Het
Dmtf1 T C 5: 9,148,989 (GRCm38) E48G probably benign Het
Dpf3 T A 12: 83,325,035 (GRCm38) probably null Het
Dydc2 A G 14: 41,061,903 (GRCm38) C88R probably benign Het
Elovl4 A G 9: 83,780,719 (GRCm38) Y163H probably damaging Het
Enpp2 T C 15: 54,882,982 (GRCm38) D296G probably damaging Het
Fam83h G T 15: 76,006,570 (GRCm38) probably benign Het
Fbf1 T A 11: 116,151,491 (GRCm38) Q511L possibly damaging Het
Fhdc1 A T 3: 84,454,851 (GRCm38) L323Q probably damaging Het
Fmnl2 T A 2: 53,105,576 (GRCm38) V437D possibly damaging Het
Foxo3 A G 10: 42,197,262 (GRCm38) S420P probably benign Het
Foxp4 C T 17: 47,875,871 (GRCm38) R378Q unknown Het
Garem2 G T 5: 30,117,174 (GRCm38) G844* probably null Het
Glmp T C 3: 88,327,870 (GRCm38) L269S probably damaging Het
Gm2000 T G 1: 156,366,447 (GRCm38) *124G probably null Het
Gm9915 T C 1: 42,230,721 (GRCm38) noncoding transcript Het
Gnb4 A T 3: 32,598,141 (GRCm38) D27E probably damaging Het
Gnb5 A G 9: 75,344,650 (GRCm38) probably null Het
Gpr161 T G 1: 165,306,358 (GRCm38) V63G probably damaging Het
Gsk3a T A 7: 25,229,721 (GRCm38) probably benign Het
Hapln2 T C 3: 88,024,120 (GRCm38) probably null Het
Incenp G T 19: 9,885,487 (GRCm38) T401N unknown Het
Kalrn A G 16: 33,977,524 (GRCm38) probably null Het
Kcnq3 A G 15: 66,028,623 (GRCm38) probably null Het
Kif21b T C 1: 136,171,156 (GRCm38) V1394A probably damaging Het
Klhl23 T C 2: 69,833,686 (GRCm38) C460R probably damaging Het
L3mbtl1 G A 2: 162,959,572 (GRCm38) A291T probably damaging Het
Lcp1 T C 14: 75,200,506 (GRCm38) S119P probably damaging Het
Ldhc A G 7: 46,869,751 (GRCm38) I133V probably benign Het
Lmntd2 G A 7: 141,212,059 (GRCm38) probably benign Het
Lpl A T 8: 68,896,802 (GRCm38) K327* probably null Het
Lrp1b T C 2: 40,875,069 (GRCm38) D2801G probably damaging Het
Mppe1 C A 18: 67,229,772 (GRCm38) A131S probably benign Het
Msh3 T A 13: 92,249,820 (GRCm38) probably benign Het
Msh5 A G 17: 35,033,600 (GRCm38) I377T probably damaging Het
Myo1e T C 9: 70,368,773 (GRCm38) F757L probably benign Het
Myof A T 19: 37,945,634 (GRCm38) D955E probably damaging Het
Nckap1 C T 2: 80,517,942 (GRCm38) S889N probably benign Het
Ncor2 T C 5: 125,038,918 (GRCm38) D858G probably damaging Het
Neb A T 2: 52,263,905 (GRCm38) V2398D possibly damaging Het
Nefl C G 14: 68,086,672 (GRCm38) T453R probably benign Het
Nf1 A G 11: 79,553,961 (GRCm38) N371D probably benign Het
Nlrp4f T C 13: 65,194,091 (GRCm38) Y580C probably damaging Het
Nme8 A C 13: 19,652,322 (GRCm38) L228R probably damaging Het
Numa1 C T 7: 102,009,322 (GRCm38) A1605V probably damaging Het
Ofd1 T C X: 166,427,214 (GRCm38) Y205C probably benign Het
Olfr1047 T A 2: 86,228,252 (GRCm38) T240S probably damaging Het
Olfr1283 C T 2: 111,369,076 (GRCm38) S148L probably benign Het
Olfr1532-ps1 G A 7: 106,914,246 (GRCm38) G16D probably damaging Het
Olfr693 T A 7: 106,677,670 (GRCm38) N272I probably damaging Het
Olfr972 T A 9: 39,873,938 (GRCm38) I221N probably damaging Het
Pclo A G 5: 14,713,473 (GRCm38) T3987A unknown Het
Pdgfrb G A 18: 61,066,494 (GRCm38) probably benign Het
Pdxk G A 10: 78,441,154 (GRCm38) T270I probably damaging Het
Pex5 T C 6: 124,414,405 (GRCm38) E10G probably damaging Het
Pik3c2g T A 6: 139,900,386 (GRCm38) probably null Het
Pkhd1 T A 1: 20,381,523 (GRCm38) I2183F probably damaging Het
Plppr2 T C 9: 21,941,126 (GRCm38) V102A probably damaging Het
Plxnd1 T C 6: 115,962,517 (GRCm38) T1449A probably damaging Het
Pnkd T A 1: 74,285,910 (GRCm38) probably null Het
Pom121l2 A G 13: 21,983,472 (GRCm38) I638V probably damaging Het
Prag1 A G 8: 36,129,160 (GRCm38) probably null Het
Ranbp10 A G 8: 105,786,708 (GRCm38) F191L probably damaging Het
Rapgef1 T C 2: 29,733,711 (GRCm38) L824P probably damaging Het
Rec8 T C 14: 55,624,142 (GRCm38) L418P probably damaging Het
Rimbp2 T A 5: 128,797,241 (GRCm38) N429Y probably damaging Het
Rpe65 C A 3: 159,615,670 (GRCm38) T373K probably benign Het
Rrn3 T C 16: 13,789,074 (GRCm38) S151P probably damaging Het
Scn7a A G 2: 66,684,289 (GRCm38) V1047A possibly damaging Het
Scn9a G T 2: 66,515,380 (GRCm38) P1123Q probably damaging Het
Secisbp2l T C 2: 125,747,510 (GRCm38) D706G probably damaging Het
Serpina5 A T 12: 104,103,857 (GRCm38) T338S probably benign Het
Sez6 G A 11: 77,954,068 (GRCm38) probably null Het
Shisa4 C T 1: 135,372,274 (GRCm38) G157D probably damaging Het
Slc1a7 G T 4: 107,968,585 (GRCm38) D14Y probably benign Het
Slc25a11 A C 11: 70,646,173 (GRCm38) L51V probably benign Het
Slit3 A G 11: 35,630,841 (GRCm38) probably null Het
Spata13 G T 14: 60,691,463 (GRCm38) G157W probably damaging Het
Spta1 T C 1: 174,240,367 (GRCm38) V2120A possibly damaging Het
Srpr T C 9: 35,213,538 (GRCm38) probably null Het
Syt6 A G 3: 103,587,420 (GRCm38) I234V probably benign Het
Thada G T 17: 84,310,042 (GRCm38) P1349T probably damaging Het
Tmem161a C T 8: 70,176,909 (GRCm38) R58W probably damaging Het
Top3b A G 16: 16,883,519 (GRCm38) I232V probably damaging Het
Tspan1 T A 4: 116,163,629 (GRCm38) Q197L possibly damaging Het
Ttc28 A C 5: 111,235,635 (GRCm38) Y1334S probably benign Het
Ubxn6 G T 17: 56,073,077 (GRCm38) N28K possibly damaging Het
Uggt1 T C 1: 36,151,781 (GRCm38) D1366G probably damaging Het
Ugp2 A G 11: 21,328,942 (GRCm38) S415P probably damaging Het
Vcan A T 13: 89,689,038 (GRCm38) S2796T probably damaging Het
Vipr2 T C 12: 116,136,206 (GRCm38) V231A probably benign Het
Vmn1r176 T C 7: 23,834,948 (GRCm38) N260S probably benign Het
Vmn1r59 A T 7: 5,454,039 (GRCm38) Y241N probably damaging Het
Vmn2r67 A T 7: 85,151,805 (GRCm38) Y308N probably benign Het
Vmn2r75 A T 7: 86,148,262 (GRCm38) M781K probably damaging Het
Vwa3a A T 7: 120,780,171 (GRCm38) I500F probably damaging Het
Zfp609 A G 9: 65,795,277 (GRCm38) V31A probably damaging Het
Zfp689 G T 7: 127,444,787 (GRCm38) Q224K probably damaging Het
Zfp81 A T 17: 33,335,501 (GRCm38) L113H probably benign 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
IGL03342:Acap2 APN 16 31,105,492 (GRCm38) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGAGGTACTTAAGCCTCTTTTCAG -3'
(R):5'- GTGACGTGCTTTCATACGACG -3'

Sequencing Primer
(F):5'- CTCTGATCACTACTTAAGACACGTG -3'
(R):5'- TTCATACGACGTGGACTCAG -3'
Posted On 2014-08-25