Incidental Mutation 'R5316:Agap2'
ID 405836
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 042899-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.346) question?
Stock # R5316 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 126911154-126929039 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 126918296 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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b G A 12: 113,455,013 (GRCm39) R610H probably damaging Het
Apol10a A G 15: 77,372,729 (GRCm39) T122A probably damaging Het
Arhgap17 G T 7: 122,895,750 (GRCm39) A458D possibly damaging Het
Cd80 C T 16: 38,294,239 (GRCm39) Q41* probably null Het
Cmss1 T G 16: 57,122,638 (GRCm39) K252T probably damaging Het
Cog2 A G 8: 125,255,779 (GRCm39) D122G probably benign Het
Dsc3 T A 18: 20,096,598 (GRCm39) D841V possibly damaging Het
Dst C A 1: 34,262,929 (GRCm39) Q4549K probably damaging Het
Efcab3 A G 11: 104,967,286 (GRCm39) I5275M possibly damaging Het
Epha6 A G 16: 59,775,083 (GRCm39) L711P probably damaging Het
Gabrg2 T A 11: 41,867,385 (GRCm39) N78I probably damaging Het
H1f1 C T 13: 23,948,085 (GRCm39) probably benign Het
Htra3 T C 5: 35,821,420 (GRCm39) D319G probably damaging Het
Jph1 T C 1: 17,161,750 (GRCm39) Y304C probably damaging Het
Kat2a G T 11: 100,602,996 (GRCm39) Q79K possibly damaging Het
Klhl7 C T 5: 24,332,748 (GRCm39) A102V probably benign Het
Lamb3 A G 1: 193,012,501 (GRCm39) H426R probably benign Het
Lemd3 C A 10: 120,788,161 (GRCm39) probably null Het
Mcm3ap A C 10: 76,306,760 (GRCm39) D291A possibly damaging Het
Micos13 G A 17: 56,916,649 (GRCm39) S7L possibly damaging Het
Mme C G 3: 63,276,375 (GRCm39) F717L probably damaging Het
Mybpc2 T A 7: 44,169,806 (GRCm39) K171* probably null Het
Naip6 T C 13: 100,420,290 (GRCm39) N1327D probably benign Het
Nr2e1 A T 10: 42,447,487 (GRCm39) M175K probably benign Het
Or8a1b A T 9: 37,622,981 (GRCm39) V198D possibly damaging Het
Or8s5 G A 15: 98,238,246 (GRCm39) A208V probably benign Het
Ppef2 A T 5: 92,383,670 (GRCm39) M480K probably benign Het
Prkar2b A T 12: 32,110,984 (GRCm39) L33Q probably damaging Het
Ralgps2 A T 1: 156,641,067 (GRCm39) V496E probably damaging Het
Rbms2 G A 10: 127,981,606 (GRCm39) P81L probably damaging Het
Scara5 T C 14: 65,927,264 (GRCm39) S54P possibly damaging Het
Slc18a3 T C 14: 32,184,814 (GRCm39) D523G probably benign Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Srrt C A 5: 137,294,813 (GRCm39) A747S probably benign Het
Sycp2 C T 2: 177,998,296 (GRCm39) D1075N probably benign Het
Tasor A G 14: 27,193,992 (GRCm39) D1064G possibly damaging Het
Vat1l G A 8: 115,011,088 (GRCm39) V279I probably damaging Het
Zfp677 A G 17: 21,617,410 (GRCm39) K156E 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
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
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'- TCCTCACTCAGGGTTAGGTG -3'
(R):5'- AGGCGTTAACTGCATTTGCC -3'

Sequencing Primer
(F):5'- TTAGGTGAGCCCCTCAGTAAAG -3'
(R):5'- TGCCCAGTTCTTGGCAAC -3'
Posted On 2016-07-22