Incidental Mutation 'R6802:Agap3'
ID 533376
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 044915-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R6802 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 24657175-24707045 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24692791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 408 (I408N)
Ref Sequence ENSEMBL: ENSMUSP00000024123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024123] [ENSMUST00000199856]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000024123
AA Change: I408N

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000024123
Gene: ENSMUSG00000023353
AA Change: I408N

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
Predicted Effect probably benign
Transcript: ENSMUST00000199856
SMART Domains Protein: ENSMUSP00000142529
Gene: ENSMUSG00000023353

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (54/54)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik A T 7: 115,698,725 (GRCm39) K38N probably damaging Het
Apold1 G A 6: 134,960,693 (GRCm39) R49H probably damaging Het
Arfgef1 A T 1: 10,259,677 (GRCm39) M597K probably benign Het
Bsn C T 9: 107,987,823 (GRCm39) probably benign Het
Ccdc177 A T 12: 80,806,057 (GRCm39) D72E probably damaging Het
Coa8 G T 12: 111,717,625 (GRCm39) G162W probably benign Het
Ctdp1 A T 18: 80,463,656 (GRCm39) probably null Het
Ctsj A T 13: 61,150,888 (GRCm39) L190M probably benign Het
Dhx57 A G 17: 80,582,750 (GRCm39) F285S probably benign Het
Dnah2 A T 11: 69,314,516 (GRCm39) V4051E probably damaging Het
F5 A T 1: 164,006,925 (GRCm39) D243V probably damaging Het
Fat3 C T 9: 15,826,357 (GRCm39) E4532K possibly damaging Het
Fbxo30 G T 10: 11,167,224 (GRCm39) G649C probably damaging Het
Focad T C 4: 88,192,440 (GRCm39) S590P unknown Het
Focad G A 4: 88,262,921 (GRCm39) V973I unknown Het
Glb1l3 T C 9: 26,770,648 (GRCm39) probably null Het
Gli2 G A 1: 118,769,795 (GRCm39) R586C probably damaging Het
Gm6401 T A 14: 41,788,874 (GRCm39) E65V probably damaging Het
Gml2 T A 15: 74,696,095 (GRCm39) L163H probably damaging Het
Grm6 A T 11: 50,744,216 (GRCm39) Q229L probably benign Het
Gtf2h2 T C 13: 100,617,051 (GRCm39) M252V probably benign Het
Hsf4 G A 8: 106,001,300 (GRCm39) G309S probably damaging Het
Iglc1 T C 16: 18,880,660 (GRCm39) probably benign Het
Irgq A G 7: 24,231,076 (GRCm39) E89G probably benign Het
Kcnj6 T C 16: 94,563,436 (GRCm39) N354S probably benign Het
Lrguk A G 6: 34,039,392 (GRCm39) H301R probably damaging Het
Mc4r C A 18: 66,992,488 (GRCm39) M208I probably benign Het
Mrpl15 A G 1: 4,846,953 (GRCm39) S208P probably benign Het
Neil2 A G 14: 63,429,263 (GRCm39) F10S probably damaging Het
Nrg1 T C 8: 32,311,292 (GRCm39) R476G probably damaging Het
Or12k7 A G 2: 36,958,427 (GRCm39) M37V probably benign Het
Or4c100 A G 2: 88,355,941 (GRCm39) T5A probably benign Het
Or8k22 G T 2: 86,163,529 (GRCm39) T57K possibly damaging Het
Pacs1 T C 19: 5,202,812 (GRCm39) I357V probably damaging Het
Pla2g15 T C 8: 106,877,213 (GRCm39) L32P probably damaging Het
Pms1 A T 1: 53,245,951 (GRCm39) S529R probably benign Het
Prkra A T 2: 76,463,881 (GRCm39) D260E probably damaging Het
Qsox1 A C 1: 155,671,139 (GRCm39) F127V probably damaging Het
Rabgap1l A T 1: 160,561,250 (GRCm39) V161E probably benign Het
Robo1 T G 16: 72,730,201 (GRCm39) V214G probably benign Het
Ryr2 G A 13: 11,701,852 (GRCm39) A2935V probably damaging Het
Sgtb A T 13: 104,268,558 (GRCm39) Q198L probably benign Het
Slc39a12 C T 2: 14,424,896 (GRCm39) L376F probably benign Het
Socs1 C A 16: 10,602,222 (GRCm39) V172L probably benign Het
Sprr2k A G 3: 92,340,671 (GRCm39) probably benign Het
Tgm1 C T 14: 55,949,939 (GRCm39) probably benign Het
Tph2 A T 10: 115,020,778 (GRCm39) M6K probably damaging Het
Trav16 T A 14: 53,980,941 (GRCm39) C43* probably null Het
Ttll5 A G 12: 85,926,160 (GRCm39) E318G probably damaging Het
Vmn2r90 T A 17: 17,932,351 (GRCm39) I86N probably damaging Het
Zdhhc19 T C 16: 32,325,176 (GRCm39) S165P possibly damaging Het
Zfp352 A T 4: 90,113,437 (GRCm39) T526S probably benign 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
R5056:Agap3 UTSW 5 24,682,860 (GRCm39) missense probably damaging 1.00
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
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'- GGAGACCTGGTCACATCATG -3'
(R):5'- GCAAACATCAGTTCATATGCCC -3'

Sequencing Primer
(F):5'- ACATCATGACTTTCCTGTGCTGG -3'
(R):5'- TGGTGCATTTTCAAAAGAAACCCC -3'
Posted On 2018-09-12