Incidental Mutation 'R4612:Agap2'
ID 344854
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 041823-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.346) question?
Stock # R4612 (G1)
Quality Score 150
Status Not validated
Chromosome 10
Chromosomal Location 126911154-126929039 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126915965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 159 (T159S)
Ref Sequence ENSEMBL: ENSMUSP00000151946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039259] [ENSMUST00000217941]
AlphaFold Q3UHD9
Predicted Effect unknown
Transcript: ENSMUST00000039259
AA Change: T159S
SMART Domains Protein: ENSMUSP00000043466
Gene: ENSMUSG00000025422
AA Change: T159S

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 unknown
Transcript: ENSMUST00000217941
AA Change: T159S
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218292
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
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: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019D03Rik T C 1: 52,964,635 (GRCm39) D31G probably benign Het
5730455P16Rik A T 11: 80,268,806 (GRCm39) M1K probably null Het
Abca15 A G 7: 119,934,384 (GRCm39) D120G probably benign Het
Adam26a A T 8: 44,021,830 (GRCm39) N553K probably damaging Het
Adam32 A T 8: 25,362,752 (GRCm39) C558S probably damaging Het
Adam34l A T 8: 44,079,587 (GRCm39) F212L probably benign Het
Adam39 A T 8: 41,278,958 (GRCm39) S450C probably damaging Het
Ahnak G A 19: 8,981,088 (GRCm39) V791I probably benign Het
Ak7 T G 12: 105,727,772 (GRCm39) L468R probably damaging Het
Akap12 A G 10: 4,304,456 (GRCm39) D422G probably damaging Het
Antxr1 T A 6: 87,265,155 (GRCm39) I129F probably damaging Het
Arhgap32 G A 9: 32,170,775 (GRCm39) G1185D probably damaging Het
Atf7ip2 A T 16: 10,059,427 (GRCm39) E322D probably benign Het
Atg4b T C 1: 93,714,263 (GRCm39) F349L probably damaging Het
Atp6v1c1 A G 15: 38,677,856 (GRCm39) K127R probably damaging Het
Atxn1l C T 8: 110,458,736 (GRCm39) V509M possibly damaging Het
B3glct T A 5: 149,663,022 (GRCm39) I260N probably damaging Het
Bcl2l12 G A 7: 44,646,009 (GRCm39) P70L probably damaging Het
Bok T A 1: 93,621,900 (GRCm39) F157L probably damaging Het
Bves G A 10: 45,215,373 (GRCm39) G16D probably benign Het
Cacna1b T A 2: 24,516,864 (GRCm39) K65* probably null Het
Casc3 A G 11: 98,713,784 (GRCm39) T339A probably benign Het
Ccdc18 C T 5: 108,283,307 (GRCm39) S6L probably benign Het
Cd86 A G 16: 36,435,692 (GRCm39) Y242H probably benign Het
Chd3 A C 11: 69,244,035 (GRCm39) Y1249* probably null Het
Chrne T C 11: 70,507,848 (GRCm39) T284A probably damaging Het
Col12a1 T C 9: 79,523,339 (GRCm39) D2746G probably damaging Het
Cryaa T A 17: 31,897,448 (GRCm39) M72K probably benign Het
Csmd1 G T 8: 15,971,908 (GRCm39) probably null Het
Det1 A T 7: 78,493,454 (GRCm39) N183K probably damaging Het
Dis3 C A 14: 99,328,871 (GRCm39) V294L probably benign Het
Dnah2 G A 11: 69,374,193 (GRCm39) L1493F possibly damaging Het
Dsc2 A T 18: 20,174,876 (GRCm39) D466E probably damaging Het
Dsg4 T A 18: 20,595,470 (GRCm39) S558T probably benign Het
Dzip3 A T 16: 48,772,403 (GRCm39) L422* probably null Het
Elp6 T C 9: 110,143,087 (GRCm39) F100S probably damaging Het
Epg5 C T 18: 78,025,629 (GRCm39) T1224I possibly damaging Het
Exoc1l A T 5: 76,664,345 (GRCm39) N145Y probably damaging Het
F830016B08Rik T A 18: 60,434,087 (GRCm39) I390N probably benign Het
Fam110c A G 12: 31,124,655 (GRCm39) T206A unknown Het
Fam187b G A 7: 30,676,518 (GRCm39) G9D possibly damaging Het
Fat1 A G 8: 45,478,184 (GRCm39) D2410G probably damaging Het
Fbln1 T A 15: 85,122,760 (GRCm39) F390Y probably benign Het
Fgg A G 3: 82,917,397 (GRCm39) N142S probably damaging Het
Fhip1a G A 3: 85,637,679 (GRCm39) R207* probably null Het
Flcn T C 11: 59,683,513 (GRCm39) T555A probably damaging Het
Foxq1 G T 13: 31,742,808 (GRCm39) probably benign Het
Gm3233 A T 10: 77,595,498 (GRCm39) probably benign Het
Gprc5a G A 6: 135,055,927 (GRCm39) V125I probably damaging Het
Gria2 T C 3: 80,639,358 (GRCm39) D218G probably damaging Het
Gtf3c5 C T 2: 28,469,596 (GRCm39) A103T probably benign Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Hspg2 A G 4: 137,266,886 (GRCm39) T1964A possibly damaging Het
Htatip2 G T 7: 49,422,345 (GRCm39) E188* probably null Het
Ifna13 T G 4: 88,562,113 (GRCm39) E170D probably damaging Het
Il4ra A G 7: 125,175,255 (GRCm39) T488A probably benign Het
Jup G T 11: 100,272,660 (GRCm39) H251N probably damaging Het
Kif21a A T 15: 90,852,426 (GRCm39) probably null Het
Klhl28 T A 12: 65,004,034 (GRCm39) I160L probably damaging Het
Klk1b5 A T 7: 43,494,696 (GRCm39) T60S possibly damaging Het
Kntc1 A G 5: 123,950,706 (GRCm39) R1995G probably damaging Het
Lrig2 A C 3: 104,370,099 (GRCm39) I844M probably damaging Het
Lrp2 C T 2: 69,288,771 (GRCm39) W3698* probably null Het
Lyar T A 5: 38,382,053 (GRCm39) S12T possibly damaging Het
Map3k19 T C 1: 127,743,037 (GRCm39) K1507E probably benign Het
Mre11a G A 9: 14,714,199 (GRCm39) G267R probably damaging Het
Mthfd1l A G 10: 3,980,717 (GRCm39) Q473R probably damaging Het
Ncald T A 15: 37,397,593 (GRCm39) E29V probably benign Het
Neb T C 2: 52,177,255 (GRCm39) D1362G probably damaging Het
Nme2 T C 11: 93,846,428 (GRCm39) T7A possibly damaging Het
Nod2 T A 8: 89,391,664 (GRCm39) L657Q possibly damaging Het
Nrm T A 17: 36,174,421 (GRCm39) V75E probably benign Het
Ogfod1 A C 8: 94,763,975 (GRCm39) K20T possibly damaging Het
Omp T C 7: 97,794,348 (GRCm39) N93S probably damaging Het
Or10h28 T A 17: 33,488,454 (GRCm39) V252E probably benign Het
Or14a256 T A 7: 86,264,944 (GRCm39) Q303L probably benign Het
Or5h27 T C 16: 59,006,674 (GRCm39) I57M probably damaging Het
Pcdhb15 A C 18: 37,608,648 (GRCm39) T627P probably damaging Het
Pld1 A G 3: 28,185,882 (GRCm39) T1036A possibly damaging Het
Pogk C A 1: 166,226,334 (GRCm39) E606* probably null Het
Ppp1r10 T A 17: 36,238,823 (GRCm39) L292Q probably damaging Het
Prpf6 T C 2: 181,273,872 (GRCm39) C339R possibly damaging Het
Psd T A 19: 46,301,778 (GRCm39) D937V probably benign Het
Rbak T C 5: 143,160,222 (GRCm39) Q277R probably benign Het
Sbno1 T A 5: 124,542,087 (GRCm39) Y355F probably damaging Het
Sec23ip C T 7: 128,352,226 (GRCm39) Q201* probably null Het
Serpinb3a T C 1: 106,975,337 (GRCm39) K157E probably damaging Het
Slc22a28 A T 19: 8,078,770 (GRCm39) N306K probably damaging Het
Smarca2 C A 19: 26,753,625 (GRCm39) D1584E possibly damaging Het
Snx29 C A 16: 11,265,359 (GRCm39) Q530K probably damaging Het
Stard10 C A 7: 100,994,877 (GRCm39) Q278K possibly damaging Het
Tgm2 C T 2: 157,966,124 (GRCm39) C510Y probably benign Het
Tlr9 C T 9: 106,101,006 (GRCm39) P99L probably damaging Het
Tmco4 T C 4: 138,717,871 (GRCm39) W4R probably benign Het
Tmem151a T A 19: 5,121,862 (GRCm39) probably benign Het
Tmem255b T C 8: 13,504,228 (GRCm39) V140A probably benign Het
Trbj1-2 C T 6: 41,510,950 (GRCm39) probably benign Het
Trpm2 T C 10: 77,781,750 (GRCm39) T290A probably damaging Het
Tsc22d1 G A 14: 76,656,445 (GRCm39) E120K possibly damaging Het
Ttc29 A G 8: 79,052,175 (GRCm39) D352G probably benign Het
Usp25 A T 16: 76,830,833 (GRCm39) I30F possibly damaging Het
Usp34 A C 11: 23,382,268 (GRCm39) N1993T probably damaging Het
Vmn2r124 A C 17: 18,283,284 (GRCm39) H326P probably benign Het
Vmn2r92 C A 17: 18,387,132 (GRCm39) T157K probably benign Het
Vstm5 A T 9: 15,168,789 (GRCm39) I118F probably benign Het
Vwa7 T C 17: 35,242,426 (GRCm39) V510A probably damaging Het
Zfhx4 G A 3: 5,462,123 (GRCm39) S1266N probably damaging Het
Zfp763 T A 17: 33,237,922 (GRCm39) N408Y probably benign Het
Zswim5 C T 4: 116,843,901 (GRCm39) H980Y 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
R1445:Agap2 UTSW 10 126,926,981 (GRCm39) splice site probably benign
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
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'- CTGTGGATCAGTACCAGCAG -3'
(R):5'- GACAACTTCCCTCTGGTTCCAG -3'

Sequencing Primer
(F):5'- GATCAGTACCAGCAGCGCAG -3'
(R):5'- ACCAGAGGTCGTGACTGCAG -3'
Posted On 2015-09-25