Incidental Mutation 'R5056:Agap3'
ID 390834
Institutional Source Beutler Lab
Gene Symbol Agap3
Ensembl Gene ENSMUSG00000023353
Gene Name ArfGAP with GTPase domain, ankyrin repeat and PH domain 3
Synonyms Centg3, MRIP-1, Crag
MMRRC Submission 042646-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R5056 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 24657175-24707045 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24682860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 459 (V459A)
Ref Sequence ENSEMBL: ENSMUSP00000142529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024123] [ENSMUST00000199856] [ENSMUST00000212381]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000024123
AA Change: V276A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024123
Gene: ENSMUSG00000023353
AA Change: V276A

DomainStartEndE-ValueType
low complexity region 4 59 N/A INTRINSIC
Pfam:Ras 128 286 1.2e-18 PFAM
low complexity region 328 345 N/A INTRINSIC
PH 403 642 2.76e-16 SMART
ArfGap 661 781 9.17e-51 SMART
ANK 820 849 2.43e1 SMART
ANK 853 885 9.17e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199647
Predicted Effect probably damaging
Transcript: ENSMUST00000199856
AA Change: V459A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142529
Gene: ENSMUSG00000023353
AA Change: V459A

DomainStartEndE-ValueType
low complexity region 40 50 N/A INTRINSIC
low complexity region 66 108 N/A INTRINSIC
low complexity region 242 255 N/A INTRINSIC
low complexity region 278 292 N/A INTRINSIC
small_GTPase 307 473 3.2e-11 SMART
low complexity region 511 528 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000212381
AA Change: V276A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Meta Mutation Damage Score 0.8822 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.2%
Validation Efficiency 99% (73/74)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik T A 8: 117,698,421 (GRCm39) K229* probably null Het
Adora2a T A 10: 75,161,992 (GRCm39) S44T probably damaging Het
Apc2 T C 10: 80,137,148 (GRCm39) V31A probably benign Het
Asic2 T A 11: 80,862,429 (GRCm39) K189N possibly damaging Het
Bbs10 C T 10: 111,136,401 (GRCm39) P505S probably benign Het
Brd10 A T 19: 29,694,759 (GRCm39) I1578K probably benign Het
Cdh20 G T 1: 104,881,722 (GRCm39) V396L probably benign Het
Cenpb C T 2: 131,020,091 (GRCm39) probably benign Het
Chil6 T A 3: 106,301,659 (GRCm39) Y147F probably damaging Het
Cluh C T 11: 74,552,772 (GRCm39) R606C probably damaging Het
Cmtr1 A G 17: 29,909,302 (GRCm39) T404A possibly damaging Het
Cnot1 T C 8: 96,467,636 (GRCm39) N1499S probably damaging Het
Dmkn T C 7: 30,463,529 (GRCm39) S61P probably damaging Het
Dmxl1 T C 18: 50,003,990 (GRCm39) C872R probably benign Het
Dnah3 A G 7: 119,620,169 (GRCm39) Y1587H probably damaging Het
Dsc2 A T 18: 20,183,199 (GRCm39) V73D probably damaging Het
F5 A T 1: 164,019,601 (GRCm39) Y692F possibly damaging Het
Fam184a A T 10: 53,550,670 (GRCm39) L80I probably damaging Het
Foxj2 A G 6: 122,810,833 (GRCm39) H271R probably benign Het
Grm7 A G 6: 111,057,404 (GRCm39) T335A probably damaging Het
Hspa9 A G 18: 35,071,734 (GRCm39) L622P probably damaging Het
Kcna7 G A 7: 45,056,015 (GRCm39) R77H probably damaging Het
Kcnd3 T A 3: 105,574,244 (GRCm39) probably benign Het
Klhdc8b ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC 9: 108,326,184 (GRCm39) probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrch4 C G 5: 137,635,113 (GRCm39) N237K probably damaging Het
Lss T G 10: 76,388,760 (GRCm39) probably null Het
Map6 T C 7: 98,985,859 (GRCm39) F588L probably benign Het
Mbd6 C T 10: 127,122,310 (GRCm39) V173I probably benign Het
Med13 A T 11: 86,219,391 (GRCm39) S352T probably benign Het
Mettl16 T A 11: 74,707,766 (GRCm39) V320E probably benign Het
Myh7b G C 2: 155,474,293 (GRCm39) R1669S possibly damaging Het
Nup188 T A 2: 30,194,143 (GRCm39) D149E probably damaging Het
Ogfrl1 A G 1: 23,418,130 (GRCm39) S83P probably damaging Het
Or52l1 T A 7: 104,829,779 (GRCm39) H262L probably damaging Het
Or5m13 T A 2: 85,748,480 (GRCm39) D70E probably damaging Het
Or8k36-ps1 T A 2: 86,437,364 (GRCm39) I184F unknown Het
Or9m1 T C 2: 87,733,915 (GRCm39) Y35C probably damaging Het
Pafah1b3 C T 7: 24,994,764 (GRCm39) R98Q probably damaging Het
Pde6b A T 5: 108,571,357 (GRCm39) K437* probably null Het
Ppp1r12b A T 1: 134,762,130 (GRCm39) probably benign Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Pramel34 T C 5: 93,786,784 (GRCm39) probably benign Het
Prdm9 T C 17: 15,782,679 (GRCm39) Q104R possibly damaging Het
Rgs22 A T 15: 36,050,391 (GRCm39) probably null Het
Rnf14 C T 18: 38,441,441 (GRCm39) P277L probably damaging Het
Robo4 T C 9: 37,316,102 (GRCm39) S258P probably benign Het
Sfrp1 T A 8: 23,907,420 (GRCm39) F207I probably damaging Het
Sgms1 A G 19: 32,137,087 (GRCm39) S160P probably damaging Het
Sil1 T C 18: 35,402,755 (GRCm39) K263R probably benign Het
St14 A G 9: 31,008,847 (GRCm39) probably null Het
Syne2 A G 12: 75,955,905 (GRCm39) probably benign Het
Tbc1d9 T C 8: 83,995,835 (GRCm39) S1013P probably benign Het
Tent5b C T 4: 133,207,749 (GRCm39) R47W possibly damaging Het
Tmem67 T C 4: 12,070,471 (GRCm39) S352G probably benign Het
Trib2 C A 12: 15,843,795 (GRCm39) K282N possibly damaging Het
Trnau1ap T C 4: 132,054,482 (GRCm39) probably benign Het
Trpm4 T C 7: 44,958,054 (GRCm39) D952G probably damaging Het
Unc93b1 A G 19: 3,992,762 (GRCm39) N305D possibly damaging Het
Usp32 A G 11: 84,917,621 (GRCm39) V802A probably benign Het
Vmn2r48 T A 7: 9,676,251 (GRCm39) H410L probably damaging Het
Wfs1 T C 5: 37,132,931 (GRCm39) N116S probably benign Het
Wif1 A T 10: 120,935,684 (GRCm39) H333L probably benign Het
Zfp109 T C 7: 23,928,162 (GRCm39) T416A possibly damaging Het
Zfp808 T A 13: 62,320,444 (GRCm39) C558S probably damaging Het
Zpbp T C 11: 11,409,734 (GRCm39) D116G possibly damaging Het
Other mutations in Agap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00574:Agap3 APN 5 24,703,107 (GRCm39) missense probably damaging 0.99
IGL00900:Agap3 APN 5 24,681,366 (GRCm39) splice site probably benign
IGL00966:Agap3 APN 5 24,706,000 (GRCm39) splice site probably benign
IGL02207:Agap3 APN 5 24,704,934 (GRCm39) missense probably benign
IGL02431:Agap3 APN 5 24,706,010 (GRCm39) missense probably damaging 1.00
IGL02601:Agap3 APN 5 24,688,369 (GRCm39) missense possibly damaging 0.67
IGL03090:Agap3 APN 5 24,706,204 (GRCm39) missense possibly damaging 0.91
IGL03131:Agap3 APN 5 24,682,130 (GRCm39) missense probably benign 0.16
IGL03247:Agap3 APN 5 24,692,820 (GRCm39) missense probably damaging 1.00
R0165:Agap3 UTSW 5 24,684,743 (GRCm39) missense probably damaging 0.98
R0344:Agap3 UTSW 5 24,656,200 (GRCm39) unclassified probably benign
R0496:Agap3 UTSW 5 24,706,241 (GRCm39) missense probably damaging 1.00
R0542:Agap3 UTSW 5 24,705,184 (GRCm39) missense possibly damaging 0.95
R1427:Agap3 UTSW 5 24,681,691 (GRCm39) missense probably benign 0.03
R1840:Agap3 UTSW 5 24,705,229 (GRCm39) missense probably damaging 1.00
R1903:Agap3 UTSW 5 24,698,011 (GRCm39) missense probably damaging 1.00
R2101:Agap3 UTSW 5 24,692,797 (GRCm39) missense probably damaging 1.00
R4601:Agap3 UTSW 5 24,681,406 (GRCm39) missense probably damaging 1.00
R4745:Agap3 UTSW 5 24,656,123 (GRCm39) splice site probably null
R4807:Agap3 UTSW 5 24,682,114 (GRCm39) missense probably damaging 1.00
R4808:Agap3 UTSW 5 24,706,243 (GRCm39) missense probably benign
R4916:Agap3 UTSW 5 24,683,011 (GRCm39) missense probably damaging 0.98
R5094:Agap3 UTSW 5 24,656,319 (GRCm39) unclassified probably benign
R5646:Agap3 UTSW 5 24,688,395 (GRCm39) missense probably benign 0.01
R5937:Agap3 UTSW 5 24,682,815 (GRCm39) missense probably damaging 0.99
R6365:Agap3 UTSW 5 24,679,983 (GRCm39) missense probably benign 0.43
R6798:Agap3 UTSW 5 24,703,280 (GRCm39) splice site probably null
R6802:Agap3 UTSW 5 24,692,791 (GRCm39) missense possibly damaging 0.87
R6863:Agap3 UTSW 5 24,657,462 (GRCm39) nonsense probably null
R6863:Agap3 UTSW 5 24,657,461 (GRCm39) missense possibly damaging 0.63
R7039:Agap3 UTSW 5 24,688,399 (GRCm39) missense probably benign 0.01
R7111:Agap3 UTSW 5 24,706,396 (GRCm39) missense probably damaging 1.00
R7313:Agap3 UTSW 5 24,657,382 (GRCm39) missense probably benign 0.25
R7791:Agap3 UTSW 5 24,681,411 (GRCm39) missense probably damaging 1.00
R8124:Agap3 UTSW 5 24,683,128 (GRCm39) missense probably benign 0.02
R8293:Agap3 UTSW 5 24,692,883 (GRCm39) missense probably damaging 1.00
R8907:Agap3 UTSW 5 24,679,629 (GRCm39) missense probably benign
R9127:Agap3 UTSW 5 24,681,439 (GRCm39) splice site probably benign
R9694:Agap3 UTSW 5 24,682,139 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TATTGCTTCTCAGCCAGCTG -3'
(R):5'- TGATGTGCACAGCTGGGATG -3'

Sequencing Primer
(F):5'- TCAGCCAGCTGAGTGATCCTC -3'
(R):5'- TGGAGGCAGCTGACACG -3'
Posted On 2016-06-06