Incidental Mutation 'R8861:Agap2'
ID 675668
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 068740-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.346) question?
Stock # R8861 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 126911154-126929039 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 126926383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 896 (V896G)
Ref Sequence ENSEMBL: ENSMUSP00000043466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039259] [ENSMUST00000217941]
AlphaFold Q3UHD9
Predicted Effect unknown
Transcript: ENSMUST00000039259
AA Change: V896G
SMART Domains Protein: ENSMUSP00000043466
Gene: ENSMUSG00000025422
AA Change: V896G

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 damaging
Transcript: ENSMUST00000217941
AA Change: V876G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (59/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082I17Rik T C 5: 139,396,642 (GRCm39) probably benign Het
Acly A G 11: 100,375,424 (GRCm39) probably null Het
Agtpbp1 T C 13: 59,643,287 (GRCm39) Y724C probably damaging Het
Angpt4 A G 2: 151,767,373 (GRCm39) N135D probably damaging Het
Aox3 T A 1: 58,189,460 (GRCm39) I387K probably benign Het
Bysl T C 17: 47,917,884 (GRCm39) E103G probably benign Het
Cdcp3 A T 7: 130,861,690 (GRCm39) K1168* probably null Het
Chmp5 T A 4: 40,964,608 (GRCm39) V208E probably damaging Het
Chst9 T G 18: 15,585,630 (GRCm39) H311P possibly damaging Het
Cilk1 T A 9: 78,071,844 (GRCm39) N505K probably benign Het
Dcaf11 C A 14: 55,801,955 (GRCm39) Y235* probably null Het
Dlx5 A C 6: 6,878,233 (GRCm39) S266A probably benign Het
Dnah7b T A 1: 46,280,236 (GRCm39) S2722T possibly damaging Het
Drc1 G A 5: 30,521,839 (GRCm39) probably benign Het
En2 T A 5: 28,371,733 (GRCm39) I70N probably damaging Het
Fam72a T C 1: 131,466,656 (GRCm39) Y147H possibly damaging Het
Fermt2 A T 14: 45,697,466 (GRCm39) F628L possibly damaging Het
Fkrp T A 7: 16,544,749 (GRCm39) D371V probably damaging Het
Fmn1 T C 2: 113,195,149 (GRCm39) L283P unknown Het
Gm13271 G A 4: 88,673,366 (GRCm39) V88I probably benign Het
Gnmt G A 17: 47,037,618 (GRCm39) T120M probably damaging Het
H2-T22 A T 17: 36,353,290 (GRCm39) V10D possibly damaging Het
Hbs1l T A 10: 21,220,963 (GRCm39) probably benign Het
Igf2bp3 A C 6: 49,082,550 (GRCm39) M344R possibly damaging Het
Kdm1b T C 13: 47,217,582 (GRCm39) V347A probably benign Het
Klra17 A T 6: 129,851,865 (GRCm39) S2R probably damaging Het
Klri1 A G 6: 129,675,164 (GRCm39) S199P probably benign Het
Ltk T A 2: 119,590,094 (GRCm39) Q44L probably benign Het
Map3k20 C A 2: 72,219,811 (GRCm39) probably benign Het
Matn4 A T 2: 164,234,825 (GRCm39) Y549N Het
Mcoln3 T A 3: 145,845,159 (GRCm39) F452I probably damaging Het
Mipol1 T C 12: 57,352,802 (GRCm39) V47A probably benign Het
Msh4 A G 3: 153,607,105 (GRCm39) L145S probably benign Het
Myh11 A T 16: 14,064,646 (GRCm39) I224N Het
Nat8f1 A G 6: 85,887,444 (GRCm39) L172P probably damaging Het
Ncoa7 T A 10: 30,567,364 (GRCm39) K438I probably benign Het
Nr1h3 T G 2: 91,024,026 (GRCm39) probably benign Het
Nuggc T C 14: 65,847,484 (GRCm39) probably null Het
Or4b12 T C 2: 90,096,803 (GRCm39) probably benign Het
Or5m9b A G 2: 85,905,960 (GRCm39) N292S probably damaging Het
Or7h8 A T 9: 20,124,377 (GRCm39) H244L probably damaging Het
Pfn4 T A 12: 4,825,456 (GRCm39) Y98N probably benign Het
Ppp6r2 T G 15: 89,143,368 (GRCm39) C172G probably damaging Het
Ptprk A G 10: 28,446,186 (GRCm39) D979G probably damaging Het
Rbm28 A G 6: 29,152,284 (GRCm39) I329T probably damaging Het
Rnf144a T C 12: 26,389,343 (GRCm39) T33A probably damaging Het
Rnf145 A G 11: 44,445,984 (GRCm39) T273A probably damaging Het
Rnf213 G A 11: 119,333,062 (GRCm39) R2758H Het
Slc22a19 A T 19: 7,660,324 (GRCm39) M362K possibly damaging Het
Slc29a4 G C 5: 142,704,580 (GRCm39) R374P probably damaging Het
Slc43a1 A G 2: 84,691,748 (GRCm39) T528A possibly damaging Het
Sp3 A T 2: 72,801,630 (GRCm39) Y172N probably damaging Het
Srpra T A 9: 35,127,045 (GRCm39) M573K probably benign Het
Steap4 A G 5: 8,025,672 (GRCm39) I78V probably benign Het
Sulf2 A G 2: 165,974,606 (GRCm39) L26P possibly damaging Het
Taok2 T C 7: 126,470,615 (GRCm39) K738E probably damaging Het
Tcea3 G A 4: 135,981,810 (GRCm39) R56H probably damaging Het
Tcf20 A G 15: 82,736,726 (GRCm39) V1575A probably damaging Het
Togaram1 T G 12: 65,027,406 (GRCm39) S798R possibly 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
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
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'- AAGGGCTCCAAGGACATCAG -3'
(R):5'- AGGTCGAGTTTCCCTTTGCG -3'

Sequencing Primer
(F):5'- CTCCAAGGACATCAGGGAGG -3'
(R):5'- GATGGCCACAGCTTCGCTTTG -3'
Posted On 2021-07-15