Incidental Mutation 'IGL02525:Agap2'
ID 297079
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agap2
Ensembl Gene ENSMUSG00000025422
Gene Name ArfGAP with GTPase domain, ankyrin repeat and PH domain 2
Synonyms Centg1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.346) question?
Stock # IGL02525
Quality Score
Status
Chromosome 10
Chromosomal Location 126911154-126929039 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 126919070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039259] [ENSMUST00000217941]
AlphaFold Q3UHD9
Predicted Effect probably null
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 null
Transcript: ENSMUST00000217941
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 C T 8: 25,101,060 (GRCm39) V701I probably benign Het
Adam18 A G 8: 25,131,783 (GRCm39) probably benign Het
Adamts20 G T 15: 94,180,959 (GRCm39) probably null Het
Adgrf5 G T 17: 43,760,854 (GRCm39) V850F probably damaging Het
Ap4b1 G A 3: 103,720,164 (GRCm39) R62K probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Ccdc12 T A 9: 110,540,169 (GRCm39) D120E probably damaging Het
Ccdc22 A G X: 7,461,249 (GRCm39) S529P probably damaging Het
Cilk1 A G 9: 78,067,675 (GRCm39) K390E probably benign Het
Col1a2 A G 6: 4,531,355 (GRCm39) probably benign Het
Ddx59 A T 1: 136,344,743 (GRCm39) Q138L probably benign Het
Dlc1 A T 8: 37,046,800 (GRCm39) F1091L probably damaging Het
Dnah1 C T 14: 31,027,790 (GRCm39) V682M probably benign Het
Dock9 C T 14: 121,877,538 (GRCm39) D404N probably damaging Het
Eif2b4 A G 5: 31,346,962 (GRCm39) V402A probably damaging Het
Erlin1 T C 19: 44,027,634 (GRCm39) H268R probably benign Het
Ermard T C 17: 15,279,601 (GRCm39) probably benign Het
Fam43a A G 16: 30,419,596 (GRCm39) K60R probably benign Het
Frmd4b T A 6: 97,389,494 (GRCm39) D78V probably damaging Het
Gabrq A G X: 71,880,430 (GRCm39) T308A possibly damaging Het
Gipr A G 7: 18,893,690 (GRCm39) C328R possibly damaging Het
Gm17078 T C 14: 51,848,680 (GRCm39) N19S possibly damaging Het
Gm17541 T C 12: 4,739,907 (GRCm39) probably benign Het
Gm21759 T C 5: 8,229,967 (GRCm39) probably benign Het
Gm7964 A G 7: 83,405,250 (GRCm39) noncoding transcript Het
Gspt1 A G 16: 11,048,854 (GRCm39) V318A probably damaging Het
Gtf2ird2 A G 5: 134,245,319 (GRCm39) S526G probably benign Het
Hey2 A G 10: 30,718,643 (GRCm39) M1T probably null Het
Hipk3 T C 2: 104,301,757 (GRCm39) D145G probably damaging Het
Itgae A G 11: 73,021,777 (GRCm39) D886G probably damaging Het
Ktn1 T A 14: 47,962,200 (GRCm39) probably null Het
Med12l A G 3: 58,975,789 (GRCm39) K239R probably benign Het
Milr1 A T 11: 106,656,101 (GRCm39) M124L probably benign Het
Mon1b G T 8: 114,365,455 (GRCm39) R261L possibly damaging Het
Mterf1a G A 5: 3,941,583 (GRCm39) S95F probably benign Het
Myef2 C A 2: 124,955,978 (GRCm39) probably benign Het
Nfrkb T A 9: 31,325,812 (GRCm39) I1085N possibly damaging Het
Or13f5 A T 4: 52,825,616 (GRCm39) Y73F probably damaging Het
Or8d2 T A 9: 38,759,536 (GRCm39) M42K possibly damaging Het
Prodh G A 16: 17,890,332 (GRCm39) Q430* probably null Het
Pstk G T 7: 130,972,922 (GRCm39) R7L probably benign Het
Ptgr1 C A 4: 58,978,067 (GRCm39) E108D probably benign Het
Ptpn9 T A 9: 56,944,009 (GRCm39) Y294* probably null Het
Rnls C T 19: 33,115,614 (GRCm39) V153M possibly damaging Het
Ros1 T C 10: 51,992,138 (GRCm39) T1362A possibly damaging Het
Samt3 G A X: 85,090,527 (GRCm39) A140T possibly damaging Het
Sbpl T A 17: 24,173,837 (GRCm39) M16L unknown Het
Sephs1 G A 2: 4,911,407 (GRCm39) C327Y probably damaging Het
Slc13a1 A T 6: 24,137,135 (GRCm39) I93N probably damaging Het
Slc34a1 T C 13: 55,551,051 (GRCm39) probably benign Het
Slc7a9 T C 7: 35,152,860 (GRCm39) S93P probably damaging Het
Slx4 A G 16: 3,798,461 (GRCm39) S1444P probably damaging Het
Spmap2l T A 5: 77,164,400 (GRCm39) D134E probably benign Het
Stk32b C T 5: 37,688,977 (GRCm39) V116M probably damaging Het
Supt5 A G 7: 28,018,372 (GRCm39) probably benign Het
Syne2 T A 12: 76,147,777 (GRCm39) S6439T probably damaging Het
Taar7d A G 10: 23,903,994 (GRCm39) D292G possibly damaging Het
Tal2 A T 4: 53,785,971 (GRCm39) I51F probably damaging Het
Tk2 A T 8: 104,970,032 (GRCm39) N77K probably benign Het
Tmprss3 T A 17: 31,413,865 (GRCm39) probably benign Het
Tnfrsf10b T C 14: 70,019,825 (GRCm39) M319T probably damaging Het
Trim24 A G 6: 37,922,653 (GRCm39) R417G probably damaging Het
Ttn C A 2: 76,594,658 (GRCm39) G18717* probably null Het
Vmn2r102 A G 17: 19,901,447 (GRCm39) T525A probably benign Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Wnt3 C T 11: 103,703,296 (GRCm39) R260W probably damaging Het
Xdh T A 17: 74,231,990 (GRCm39) Q240L possibly damaging Het
Zbtb5 T C 4: 44,994,731 (GRCm39) T218A probably benign Het
Znfx1 C T 2: 166,879,457 (GRCm39) E776K probably benign 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
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
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
Posted On 2015-04-16