Incidental Mutation 'R1445:Agap2'
ID 158802
Institutional Source Beutler Lab
Gene Symbol Agap2
Ensembl Gene ENSMUSG00000025422
Gene Name ArfGAP with GTPase domain, ankyrin repeat and PH domain 2
Synonyms Centg1
MMRRC Submission 039500-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.346) question?
Stock # R1445 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 126911154-126929039 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 126926981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039259] [ENSMUST00000080975] [ENSMUST00000164259] [ENSMUST00000217941]
AlphaFold Q3UHD9
Predicted Effect probably benign
Transcript: ENSMUST00000039259
SMART Domains Protein: ENSMUSP00000043466
Gene: ENSMUSG00000025422

DomainStartEndE-ValueType
low complexity region 28 44 N/A INTRINSIC
low complexity region 86 111 N/A INTRINSIC
low complexity region 112 135 N/A INTRINSIC
low complexity region 137 149 N/A INTRINSIC
low complexity region 151 176 N/A INTRINSIC
low complexity region 179 195 N/A INTRINSIC
low complexity region 197 207 N/A INTRINSIC
low complexity region 222 257 N/A INTRINSIC
low complexity region 306 322 N/A INTRINSIC
low complexity region 349 376 N/A INTRINSIC
Pfam:Ras 402 562 3.6e-16 PFAM
low complexity region 575 590 N/A INTRINSIC
low complexity region 600 609 N/A INTRINSIC
PH 671 906 4.35e-14 SMART
ArfGap 925 1045 8.8e-62 SMART
low complexity region 1052 1071 N/A INTRINSIC
ANK 1084 1113 1.15e0 SMART
ANK 1117 1145 3.69e2 SMART
low complexity region 1148 1175 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000080975
SMART Domains Protein: ENSMUSP00000079770
Gene: ENSMUSG00000040462

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
low complexity region 54 65 N/A INTRINSIC
Pfam:PRKCSH 108 181 2.3e-19 PFAM
low complexity region 317 331 N/A INTRINSIC
low complexity region 337 346 N/A INTRINSIC
coiled coil region 418 449 N/A INTRINSIC
low complexity region 518 533 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164259
SMART Domains Protein: ENSMUSP00000128914
Gene: ENSMUSG00000040462

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
low complexity region 54 65 N/A INTRINSIC
Pfam:PRKCSH 108 181 8.6e-19 PFAM
low complexity region 317 331 N/A INTRINSIC
low complexity region 337 346 N/A INTRINSIC
coiled coil region 418 449 N/A INTRINSIC
low complexity region 518 551 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000217941
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 93.9%
  • 20x: 84.0%
Validation Efficiency 96% (101/105)
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the centaurin GTPase family. This gene product regulates the activity of multiple kinases, including PI3K. Reduced expression of this gene results in multiple defects, including neural deficiencies, while increased expression of this gene has been observed in some tumors. Alternative splicing results in multiple protein isoforms. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired lactation due to abnormal mammary gland growth during lactation, failure of insulin-suppressed gluconeogenesis, and hyperglycemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061I17Rik G T 3: 116,861,385 (GRCm39) noncoding transcript Het
2300003K06Rik G T 11: 99,728,793 (GRCm39) Q17K probably benign Het
Abca16 T C 7: 120,119,256 (GRCm39) V999A probably benign Het
Actn3 C T 19: 4,915,483 (GRCm39) probably benign Het
Ago3 C A 4: 126,265,580 (GRCm39) R278L probably benign Het
Aldh1a2 T C 9: 71,192,492 (GRCm39) V449A possibly damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Aplnr A G 2: 84,967,353 (GRCm39) Y126C probably damaging Het
Apob T C 12: 8,066,084 (GRCm39) I4351T possibly damaging Het
Ash1l T C 3: 88,914,659 (GRCm39) L1763P probably benign Het
Aspn T C 13: 49,710,849 (GRCm39) S165P possibly damaging Het
Atg13 A T 2: 91,510,335 (GRCm39) V349E probably damaging Het
Atp1b2 T A 11: 69,493,309 (GRCm39) probably null Het
B3glct A T 5: 149,677,604 (GRCm39) D411V probably damaging Het
Bcar3 A T 3: 122,316,840 (GRCm39) I255F probably damaging Het
Cacna1b G A 2: 24,608,148 (GRCm39) probably benign Het
Cep164 T G 9: 45,690,198 (GRCm39) E675A possibly damaging Het
Chd1l C T 3: 97,490,047 (GRCm39) E503K probably benign Het
Chst8 C A 7: 34,447,593 (GRCm39) M8I possibly damaging Het
Clec4n A G 6: 123,212,475 (GRCm39) E67G probably benign Het
Cobll1 A T 2: 64,929,480 (GRCm39) D653E probably damaging Het
Col9a1 T C 1: 24,276,579 (GRCm39) probably null Het
Crip2 T C 12: 113,107,124 (GRCm39) L30P probably damaging Het
Ctbp1 C T 5: 33,418,407 (GRCm39) V22I probably benign Het
Cwc22 T C 2: 77,747,521 (GRCm39) probably benign Het
Cyp4a32 C A 4: 115,460,147 (GRCm39) Y119* probably null Het
Dido1 G T 2: 180,313,263 (GRCm39) A463E possibly damaging Het
Dnah7a G A 1: 53,567,956 (GRCm39) P1880L probably benign Het
Dock2 T A 11: 34,189,705 (GRCm39) T1489S probably benign Het
Dsp A G 13: 38,375,907 (GRCm39) T1231A probably damaging Het
Eif2ak1 G T 5: 143,810,717 (GRCm39) probably benign Het
Entrep1 G A 19: 23,998,998 (GRCm39) T140M probably damaging Het
Epc1 A T 18: 6,452,360 (GRCm39) M233K probably damaging Het
Gigyf2 A G 1: 87,371,360 (GRCm39) probably benign Het
Greb1 T G 12: 16,757,852 (GRCm39) H58P probably damaging Het
Gtpbp1 T C 15: 79,597,649 (GRCm39) I348T possibly damaging Het
Hck A T 2: 152,970,192 (GRCm39) N64Y probably benign Het
Herc2 T C 7: 55,818,744 (GRCm39) S2812P probably damaging Het
Inpp4b T A 8: 82,679,463 (GRCm39) probably null Het
Kcnq5 A C 1: 21,475,248 (GRCm39) S473A probably benign Het
Lrat T G 3: 82,810,676 (GRCm39) D115A probably damaging Het
Lyst A G 13: 13,814,639 (GRCm39) I1131M possibly damaging Het
Man2a2 T C 7: 80,018,310 (GRCm39) D160G probably benign Het
Marf1 C T 16: 13,933,688 (GRCm39) D1567N probably benign Het
Mars1 T C 10: 127,133,857 (GRCm39) D680G possibly damaging Het
Mat1a T C 14: 40,843,797 (GRCm39) S339P probably damaging Het
Megf8 T C 7: 25,042,081 (GRCm39) S1300P probably damaging Het
Mga T C 2: 119,733,179 (GRCm39) L9S probably damaging Het
Mllt6 T C 11: 97,563,277 (GRCm39) probably benign Het
Mrpl37 A G 4: 106,921,692 (GRCm39) L179P probably benign Het
Mtnr1a G T 8: 45,540,782 (GRCm39) V248L probably benign Het
Mylk T C 16: 34,635,835 (GRCm39) S19P possibly damaging Het
Or11g1 A G 14: 50,651,858 (GRCm39) T286A probably damaging Het
Pacc1 A G 1: 191,080,559 (GRCm39) probably benign Het
Parp8 A T 13: 117,161,886 (GRCm39) probably null Het
Pcnx2 T C 8: 126,479,023 (GRCm39) D2075G probably damaging Het
Pigo A T 4: 43,021,460 (GRCm39) I494K probably benign Het
Pkd1l1 A T 11: 8,820,313 (GRCm39) D1217E probably benign Het
Pkhd1l1 T C 15: 44,369,040 (GRCm39) V895A probably benign Het
Plcb4 A T 2: 135,842,109 (GRCm39) H1031L possibly damaging Het
Plxnb1 A G 9: 108,937,989 (GRCm39) K1245R probably null Het
Pold1 C T 7: 44,192,181 (GRCm39) probably benign Het
Ptprq T C 10: 107,498,423 (GRCm39) I885V probably damaging Het
Ptprz1 A G 6: 23,050,473 (GRCm39) D1398G probably damaging Het
Pygm G A 19: 6,439,917 (GRCm39) A364T probably benign Het
Rbl1 T C 2: 157,035,018 (GRCm39) N354S probably benign Het
Scgb2b19 C T 7: 32,979,037 (GRCm39) probably null Het
Slc26a8 C T 17: 28,867,187 (GRCm39) V545M possibly damaging Het
Slc27a1 T A 8: 72,036,757 (GRCm39) probably null Het
Smpd1 A G 7: 105,205,881 (GRCm39) D416G possibly damaging Het
Sorbs3 A G 14: 70,431,095 (GRCm39) V284A probably benign Het
Stfa2l1 T C 16: 35,982,154 (GRCm39) V75A probably damaging Het
Syndig1 A G 2: 149,772,841 (GRCm39) D166G probably damaging Het
Tcp10a G A 17: 7,593,406 (GRCm39) probably null Het
Themis2 T A 4: 132,510,212 (GRCm39) I663F possibly damaging Het
Thrap3 T C 4: 126,070,129 (GRCm39) Q586R probably damaging Het
Tinag C A 9: 76,952,798 (GRCm39) C62F probably damaging Het
Tmod1 T C 4: 46,090,884 (GRCm39) Y146H probably damaging Het
Tmprss4 T A 9: 45,095,683 (GRCm39) I54F possibly damaging Het
Tnks A C 8: 35,301,757 (GRCm39) probably benign Het
Trim43a GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT 9: 88,465,042 (GRCm39) probably benign Het
Trpc6 A G 9: 8,680,538 (GRCm39) E844G probably benign Het
Ubtd2 C T 11: 32,466,125 (GRCm39) R115W probably damaging Het
Ubxn6 T C 17: 56,376,042 (GRCm39) D373G probably benign Het
Upf1 T A 8: 70,794,174 (GRCm39) Q244L probably benign Het
Usp33 A G 3: 152,074,271 (GRCm39) I372M probably damaging Het
Usp34 A G 11: 23,301,629 (GRCm39) E351G probably damaging Het
Utrn A G 10: 12,554,318 (GRCm39) probably benign Het
Vmn1r78 A G 7: 11,886,508 (GRCm39) K40E possibly damaging Het
Vmn2r7 T A 3: 64,632,223 (GRCm39) M80L probably benign Het
Vps13a G T 19: 16,678,602 (GRCm39) Y1126* probably null Het
Wfdc11 T C 2: 164,506,366 (GRCm39) N60S probably benign Het
Wnk2 C T 13: 49,224,586 (GRCm39) D992N probably damaging Het
Zpbp2 C A 11: 98,444,670 (GRCm39) T66K probably damaging Het
Other mutations in Agap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01385:Agap2 APN 10 126,923,865 (GRCm39) missense unknown
IGL01690:Agap2 APN 10 126,918,827 (GRCm39) splice site probably benign
IGL01765:Agap2 APN 10 126,919,104 (GRCm39) missense unknown
IGL02029:Agap2 APN 10 126,916,152 (GRCm39) missense unknown
IGL02525:Agap2 APN 10 126,919,070 (GRCm39) splice site probably null
IGL03019:Agap2 APN 10 126,927,431 (GRCm39) splice site probably benign
R0086:Agap2 UTSW 10 126,923,751 (GRCm39) splice site probably null
R0197:Agap2 UTSW 10 126,927,571 (GRCm39) missense possibly damaging 0.66
R0345:Agap2 UTSW 10 126,923,764 (GRCm39) missense unknown
R0363:Agap2 UTSW 10 126,926,834 (GRCm39) missense probably damaging 1.00
R0682:Agap2 UTSW 10 126,919,351 (GRCm39) missense unknown
R0787:Agap2 UTSW 10 126,921,019 (GRCm39) missense unknown
R0882:Agap2 UTSW 10 126,923,319 (GRCm39) missense unknown
R0883:Agap2 UTSW 10 126,927,571 (GRCm39) missense possibly damaging 0.66
R1800:Agap2 UTSW 10 126,927,540 (GRCm39) missense probably damaging 1.00
R1854:Agap2 UTSW 10 126,916,385 (GRCm39) missense unknown
R1925:Agap2 UTSW 10 126,926,744 (GRCm39) missense probably damaging 1.00
R1986:Agap2 UTSW 10 126,918,913 (GRCm39) nonsense probably null
R2050:Agap2 UTSW 10 126,916,130 (GRCm39) nonsense probably null
R2267:Agap2 UTSW 10 126,918,297 (GRCm39) splice site probably benign
R2269:Agap2 UTSW 10 126,918,297 (GRCm39) splice site probably benign
R4174:Agap2 UTSW 10 126,926,383 (GRCm39) missense probably damaging 0.98
R4397:Agap2 UTSW 10 126,926,352 (GRCm39) missense unknown
R4418:Agap2 UTSW 10 126,927,519 (GRCm39) missense probably damaging 1.00
R4472:Agap2 UTSW 10 126,927,082 (GRCm39) missense probably damaging 1.00
R4612:Agap2 UTSW 10 126,915,965 (GRCm39) missense unknown
R4690:Agap2 UTSW 10 126,927,244 (GRCm39) missense possibly damaging 0.91
R4744:Agap2 UTSW 10 126,926,072 (GRCm39) critical splice donor site probably null
R5316:Agap2 UTSW 10 126,918,296 (GRCm39) splice site probably null
R5533:Agap2 UTSW 10 126,918,911 (GRCm39) missense probably damaging 1.00
R5680:Agap2 UTSW 10 126,923,880 (GRCm39) missense unknown
R6010:Agap2 UTSW 10 126,926,779 (GRCm39) missense probably damaging 1.00
R6276:Agap2 UTSW 10 126,925,229 (GRCm39) critical splice donor site probably null
R6356:Agap2 UTSW 10 126,918,865 (GRCm39) missense unknown
R7138:Agap2 UTSW 10 126,923,154 (GRCm39) missense unknown
R7154:Agap2 UTSW 10 126,927,524 (GRCm39) missense probably benign 0.34
R7497:Agap2 UTSW 10 126,926,834 (GRCm39) missense probably damaging 0.99
R7718:Agap2 UTSW 10 126,915,734 (GRCm39) missense possibly damaging 0.68
R7720:Agap2 UTSW 10 126,926,957 (GRCm39) missense probably damaging 0.96
R7893:Agap2 UTSW 10 126,916,064 (GRCm39) missense unknown
R7933:Agap2 UTSW 10 126,922,789 (GRCm39) splice site probably benign
R8337:Agap2 UTSW 10 126,924,194 (GRCm39) missense unknown
R8372:Agap2 UTSW 10 126,925,185 (GRCm39) missense unknown
R8428:Agap2 UTSW 10 126,923,175 (GRCm39) missense unknown
R8861:Agap2 UTSW 10 126,926,383 (GRCm39) missense unknown
R9082:Agap2 UTSW 10 126,918,911 (GRCm39) missense probably damaging 1.00
R9341:Agap2 UTSW 10 126,927,559 (GRCm39) missense unknown
R9354:Agap2 UTSW 10 126,923,104 (GRCm39) missense unknown
R9650:Agap2 UTSW 10 126,927,653 (GRCm39) missense unknown
R9745:Agap2 UTSW 10 126,919,380 (GRCm39) missense unknown
Z1088:Agap2 UTSW 10 126,924,111 (GRCm39) missense unknown
Z1176:Agap2 UTSW 10 126,916,094 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AATCTGGGCGCACTCATCTGCATC -3'
(R):5'- TGTAATGACAACGTGGGCGAGC -3'

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