Incidental Mutation 'R1427:Agap3'
ID 161352
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 039483-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R1427 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 24657175-24707045 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24681691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 333 (T333A)
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 benign
Transcript: ENSMUST00000024123
AA Change: T150A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000024123
Gene: ENSMUSG00000023353
AA Change: T150A

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 benign
Transcript: ENSMUST00000199856
AA Change: T333A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000142529
Gene: ENSMUSG00000023353
AA Change: T333A

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 benign
Transcript: ENSMUST00000212381
AA Change: T150A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 87.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A G 4: 144,349,610 (GRCm39) N289S probably damaging Het
Abhd12b A G 12: 70,229,193 (GRCm39) D223G probably damaging Het
Arhgap28 C A 17: 68,164,459 (GRCm39) Q554H probably damaging Het
Clcnkb A G 4: 141,132,620 (GRCm39) L603P probably damaging Het
Dchs1 T C 7: 105,415,398 (GRCm39) D626G probably benign Het
Eml3 T C 19: 8,911,225 (GRCm39) Y285H probably damaging Het
Ganab A G 19: 8,893,030 (GRCm39) T945A probably benign Het
Iars1 A T 13: 49,857,745 (GRCm39) probably null Het
Kalrn A G 16: 33,796,124 (GRCm39) F1217S probably damaging Het
Lipf T C 19: 33,943,000 (GRCm39) F103L probably damaging Het
Lpar2 C A 8: 70,276,700 (GRCm39) A163E possibly damaging Het
Myh1 T C 11: 67,110,573 (GRCm39) Y1495H probably damaging Het
Or5p63 A G 7: 107,811,301 (GRCm39) I145T probably benign Het
Ppp3ca T A 3: 136,627,675 (GRCm39) L413H probably damaging Het
Ptpn7 T C 1: 135,062,192 (GRCm39) V46A possibly damaging Het
Rps24 A G 14: 24,541,830 (GRCm39) T6A probably damaging Het
Sec23ip C T 7: 128,378,609 (GRCm39) R808C probably damaging Het
Slc25a26 T C 6: 94,487,828 (GRCm39) S96P probably damaging Het
Stard13 G A 5: 150,969,456 (GRCm39) R898W probably damaging Het
Tenm4 T C 7: 96,492,255 (GRCm39) V1063A probably benign Het
Tm6sf2 T G 8: 70,528,232 (GRCm39) M127R probably damaging Het
Ttn A T 2: 76,583,448 (GRCm39) W22482R probably damaging Het
Zfp384 T C 6: 125,001,847 (GRCm39) L109P probably 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
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
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'- TGCCAGAGCTTAAAGTGGTGAGTG -3'
(R):5'- TGATTTCATCCTCCAGGCTGAACAC -3'

Sequencing Primer
(F):5'- CTTAAAGTGGTGAGTGGGTCCTG -3'
(R):5'- CTGATGGACTCGGACACTAGG -3'
Posted On 2014-03-14