Incidental Mutation 'R2101:Agap3'
ID 230490
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 040105-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R2101 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 24657175-24707045 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24692797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 47 (L47Q)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024123] [ENSMUST00000199856]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000024123
AA Change: L410Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024123
Gene: ENSMUSG00000023353
AA Change: L410Q

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 damaging
Transcript: ENSMUST00000197513
AA Change: L47Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199250
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
Meta Mutation Damage Score 0.7224 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 G A 2: 103,397,207 (GRCm39) A46T probably benign Het
Apaf1 T G 10: 90,895,942 (GRCm39) I377L probably benign Het
Astn2 G A 4: 65,499,923 (GRCm39) R937* probably null Het
Cacnb1 A C 11: 97,896,554 (GRCm39) V369G probably damaging Het
Cdc42bpa G T 1: 179,974,533 (GRCm39) V1464L probably benign Het
Cdkn2aip A T 8: 48,166,036 (GRCm39) M90K probably damaging Het
Chd3 A T 11: 69,239,877 (GRCm39) D1650E probably benign Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Clca3a2 T C 3: 144,783,699 (GRCm39) T639A probably damaging Het
Cluh G T 11: 74,551,328 (GRCm39) probably benign Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Col11a2 A T 17: 34,271,143 (GRCm39) D528V probably damaging Het
Cyfip2 A G 11: 46,133,270 (GRCm39) L810P probably damaging Het
D430041D05Rik A G 2: 103,979,175 (GRCm39) V2084A probably damaging Het
Dcc G A 18: 71,943,941 (GRCm39) H237Y possibly damaging Het
Ddx60 T A 8: 62,393,679 (GRCm39) F38L probably damaging Het
Dio2 T C 12: 90,696,597 (GRCm39) *130W probably null Het
Dock5 G T 14: 68,031,459 (GRCm39) F990L probably benign Het
Dpy19l1 A T 9: 24,393,331 (GRCm39) V146E probably damaging Het
Dscam T C 16: 96,411,549 (GRCm39) T1776A probably benign Het
Enpep C T 3: 129,092,587 (GRCm39) S532N probably benign Het
Gdf6 A G 4: 9,860,025 (GRCm39) D369G probably damaging Het
Gtf2b T C 3: 142,477,144 (GRCm39) probably benign Het
Hmbox1 A G 14: 65,066,028 (GRCm39) probably benign Het
Hps3 C A 3: 20,066,947 (GRCm39) V540F possibly damaging Het
Hsd3b6 T A 3: 98,713,553 (GRCm39) I249F possibly damaging Het
Hunk T A 16: 90,229,388 (GRCm39) probably null Het
Kidins220 T A 12: 25,107,422 (GRCm39) L1625Q probably damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Myo10 T A 15: 25,722,345 (GRCm39) L186Q probably benign Het
N4bp2 T A 5: 65,948,224 (GRCm39) W285R probably damaging Het
Nat8l T C 5: 34,155,716 (GRCm39) L124P probably damaging Het
Nemp2 T C 1: 52,680,225 (GRCm39) probably null Het
Nkain2 G A 10: 32,205,813 (GRCm39) T74I possibly damaging Het
Nol4 A G 18: 22,956,466 (GRCm39) S239P probably damaging Het
Or4c118 T A 2: 88,975,301 (GRCm39) E22V probably benign Het
Pcbp3 T C 10: 76,625,589 (GRCm39) I152V possibly damaging Het
Pcp4l1 G T 1: 171,003,174 (GRCm39) P10Q probably damaging Het
Pla1a T C 16: 38,235,730 (GRCm39) N135D probably damaging Het
Plb1 T A 5: 32,507,004 (GRCm39) M1193K probably damaging Het
Prc1 T C 7: 79,962,032 (GRCm39) V73A probably benign Het
Prkd2 T A 7: 16,603,490 (GRCm39) W807R probably damaging Het
Prp2rt G T 13: 97,235,730 (GRCm39) R6S probably damaging Het
Ptprb C T 10: 116,150,943 (GRCm39) probably benign Het
Rb1cc1 A G 1: 6,319,559 (GRCm39) I993V probably benign Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rev3l T C 10: 39,704,092 (GRCm39) V2046A probably benign Het
Rnpep G T 1: 135,199,355 (GRCm39) N334K probably damaging Het
Sarm1 G A 11: 78,366,115 (GRCm39) P695S probably damaging Het
Sf3a3 C T 4: 124,612,136 (GRCm39) T131I possibly damaging Het
Slc38a10 A T 11: 120,023,567 (GRCm39) V283E probably damaging Het
Slco6c1 A T 1: 97,000,595 (GRCm39) L552* probably null Het
Tas2r136 T C 6: 132,754,495 (GRCm39) M211V probably benign Het
Tax1bp3 G A 11: 73,071,947 (GRCm39) D65N probably damaging Het
Tdrd5 A G 1: 156,129,209 (GRCm39) F167S probably damaging Het
Tfeb G A 17: 48,100,590 (GRCm39) V269M probably damaging Het
Tspan12 A T 6: 21,799,887 (GRCm39) F153L probably benign Het
Txnrd1 T G 10: 82,717,573 (GRCm39) L186V probably damaging Het
Upk1b A T 16: 38,600,499 (GRCm39) C160* probably null Het
Uty T C Y: 1,176,541 (GRCm39) Q172R probably damaging Het
Vmn1r23 T C 6: 57,903,437 (GRCm39) K114E possibly damaging Het
Vmn2r99 T G 17: 19,598,253 (GRCm39) N92K probably damaging Het
Vstm2a T A 11: 16,213,191 (GRCm39) M192K probably benign Het
Zc3h12c A G 9: 52,027,721 (GRCm39) V547A probably benign Het
Zfp944 T A 17: 22,558,809 (GRCm39) N146I 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
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'- CATGACTTTCCTGTGCTGGG -3'
(R):5'- AGCTTGCTCTGCTGGAAAG -3'

Sequencing Primer
(F):5'- CTGTGCTGGGCTGGCTC -3'
(R):5'- CTTGCTCTGCTGGAAAGGCAAAC -3'
Posted On 2014-09-18