Incidental Mutation 'IGL02029:Agap2'
ID184317
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agap2
Ensembl Gene ENSMUSG00000025422
Gene NameArfGAP with GTPase domain, ankyrin repeat and PH domain 2
SynonymsCentg1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.209) question?
Stock #IGL02029
Quality Score
Status
Chromosome10
Chromosomal Location127075284-127093169 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 127080283 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 221 (V221A)
Ref Sequence ENSEMBL: ENSMUSP00000151946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039259] [ENSMUST00000217941]
Predicted Effect unknown
Transcript: ENSMUST00000039259
AA Change: V221A
SMART Domains Protein: ENSMUSP00000043466
Gene: ENSMUSG00000025422
AA Change: V221A

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: V221A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218292
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c13 T A 13: 4,205,362 Y317* probably null Het
Bicd2 T A 13: 49,369,499 I30N probably damaging Het
Cadm2 G T 16: 66,747,296 N291K probably damaging Het
Ccdc61 C T 7: 18,903,498 C68Y probably damaging Het
Ccnl2 A G 4: 155,821,862 S351G probably benign Het
Cdcp1 A G 9: 123,183,834 probably benign Het
Clhc1 T C 11: 29,560,798 S256P probably benign Het
Fam83h T C 15: 76,006,438 E37G probably damaging Het
Fancd2 C T 6: 113,570,975 L938F probably benign Het
Fbn2 G T 18: 58,209,603 A68E probably benign Het
Fcrl1 T A 3: 87,376,487 probably benign Het
Ganc A G 2: 120,459,857 T892A probably benign Het
Gramd1a C T 7: 31,132,824 R596H possibly damaging Het
Limk1 A T 5: 134,657,954 Y518* probably null Het
Map1a A G 2: 121,303,298 T1294A possibly damaging Het
March3 G A 18: 56,807,681 P126S probably benign Het
Ntn5 A G 7: 45,686,591 I149V probably benign Het
Nup43 T C 10: 7,667,583 F8L possibly damaging Het
Olfr1105 A G 2: 87,033,901 F107L probably benign Het
Olfr1484 A T 19: 13,586,104 M267L probably benign Het
P2rx6 C T 16: 17,568,095 S236F probably benign Het
Peg10 G T 6: 4,754,473 probably benign Het
Runx2 T A 17: 44,658,687 R238* probably null Het
Serpinb9d A T 13: 33,196,529 I133L possibly damaging Het
Snph A G 2: 151,593,607 V434A probably damaging Het
Trp53rkb C A 2: 166,795,394 P90Q probably damaging Het
Ttn C A 2: 76,749,804 E21836* probably null Het
Ube3c T A 5: 29,619,328 F507I probably damaging Het
Ugt1a6a T C 1: 88,138,681 S70P probably benign Het
Zcchc6 A G 13: 59,784,888 probably benign Het
Zfp354b C T 11: 50,923,837 C87Y probably benign Het
Zfp462 G T 4: 55,079,395 probably benign Het
Other mutations in Agap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01385:Agap2 APN 10 127087996 missense unknown
IGL01690:Agap2 APN 10 127082958 splice site probably benign
IGL01765:Agap2 APN 10 127083235 missense unknown
IGL02525:Agap2 APN 10 127083201 splice site probably null
IGL03019:Agap2 APN 10 127091562 splice site probably benign
R0086:Agap2 UTSW 10 127087882 splice site probably null
R0197:Agap2 UTSW 10 127091702 missense possibly damaging 0.66
R0345:Agap2 UTSW 10 127087895 missense unknown
R0363:Agap2 UTSW 10 127090965 missense probably damaging 1.00
R0682:Agap2 UTSW 10 127083482 missense unknown
R0787:Agap2 UTSW 10 127085150 missense unknown
R0882:Agap2 UTSW 10 127087450 missense unknown
R0883:Agap2 UTSW 10 127091702 missense possibly damaging 0.66
R1445:Agap2 UTSW 10 127091112 splice site probably benign
R1800:Agap2 UTSW 10 127091671 missense probably damaging 1.00
R1854:Agap2 UTSW 10 127080516 missense unknown
R1925:Agap2 UTSW 10 127090875 missense probably damaging 1.00
R1986:Agap2 UTSW 10 127083044 nonsense probably null
R2050:Agap2 UTSW 10 127080261 nonsense probably null
R2267:Agap2 UTSW 10 127082428 splice site probably benign
R2269:Agap2 UTSW 10 127082428 splice site probably benign
R4174:Agap2 UTSW 10 127090514 missense probably damaging 0.98
R4397:Agap2 UTSW 10 127090483 missense unknown
R4418:Agap2 UTSW 10 127091650 missense probably damaging 1.00
R4472:Agap2 UTSW 10 127091213 missense probably damaging 1.00
R4612:Agap2 UTSW 10 127080096 missense unknown
R4690:Agap2 UTSW 10 127091375 missense possibly damaging 0.91
R4744:Agap2 UTSW 10 127090203 critical splice donor site probably null
R5316:Agap2 UTSW 10 127082427 splice site probably null
R5533:Agap2 UTSW 10 127083042 missense unknown
R5680:Agap2 UTSW 10 127088011 missense unknown
R6010:Agap2 UTSW 10 127090910 missense probably damaging 1.00
R6276:Agap2 UTSW 10 127089360 critical splice donor site probably null
R6356:Agap2 UTSW 10 127082996 missense unknown
Z1088:Agap2 UTSW 10 127088242 missense unknown
Posted On2014-05-07