Incidental Mutation 'R0682:Agap2'
ID 61024
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 038867-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.346) question?
Stock # R0682 (G1)
Quality Score 140
Status Not validated
Chromosome 10
Chromosomal Location 126911154-126929039 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126919351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 479 (S479G)
Ref Sequence ENSEMBL: ENSMUSP00000151946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039259] [ENSMUST00000217941]
AlphaFold Q3UHD9
Predicted Effect unknown
Transcript: ENSMUST00000039259
AA Change: S479G
SMART Domains Protein: ENSMUSP00000043466
Gene: ENSMUSG00000025422
AA Change: S479G

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: S479G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218292
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.5%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik T C 5: 146,121,650 (GRCm39) H83R probably benign Het
Abcd3 A C 3: 121,563,216 (GRCm39) I471S possibly damaging Het
Abcg1 G A 17: 31,330,225 (GRCm39) V509I probably benign Het
Adamts9 A T 6: 92,880,783 (GRCm39) N497K possibly damaging Het
Asic2 T C 11: 80,777,506 (GRCm39) I402V possibly damaging Het
Atp1a2 G A 1: 172,112,164 (GRCm39) T577I probably benign Het
Atraid T A 5: 31,209,612 (GRCm39) I92K probably damaging Het
Dpp10 C A 1: 123,832,852 (GRCm39) A31S probably damaging Het
Erich6 A T 3: 58,544,232 (GRCm39) F118L probably benign Het
Galnt18 T C 7: 111,119,222 (GRCm39) Y418C probably damaging Het
Herc1 T A 9: 66,389,263 (GRCm39) C3927S possibly damaging Het
Ifit2 G A 19: 34,551,012 (GRCm39) R184H probably benign Het
Kif24 A T 4: 41,428,620 (GRCm39) N113K probably benign Het
Lrp1b T A 2: 41,185,653 (GRCm39) Y1354F probably benign Het
Muc1 T A 3: 89,138,439 (GRCm39) I427N probably damaging Het
Muc5ac A G 7: 141,359,406 (GRCm39) T1288A possibly damaging Het
Or7g32 C A 9: 19,388,645 (GRCm39) M300I probably benign Het
Or9i14 C T 19: 13,792,501 (GRCm39) C151Y possibly damaging Het
Pex26 T A 6: 121,161,363 (GRCm39) V47E probably damaging Het
Plekhm2 T C 4: 141,355,436 (GRCm39) I871V probably damaging Het
Rasal2 A G 1: 157,006,779 (GRCm39) S111P probably damaging Het
Rnf133 A T 6: 23,649,569 (GRCm39) I163N probably damaging Het
Rrp8 A C 7: 105,383,218 (GRCm39) D349E probably damaging Het
Sdhd G T 9: 50,511,905 (GRCm39) Q38K probably benign Het
Ssh1 C T 5: 114,098,718 (GRCm39) S117N probably damaging Het
Tbc1d2b A G 9: 90,131,915 (GRCm39) M148T probably benign Het
Tnni3k A G 3: 154,645,665 (GRCm39) S470P probably damaging Het
Tnr C T 1: 159,679,877 (GRCm39) Q284* probably null Het
Trim30a A C 7: 104,078,389 (GRCm39) V229G probably damaging Het
Trim43a G A 9: 88,464,199 (GRCm39) E37K probably benign Het
U2surp C T 9: 95,366,496 (GRCm39) V470I probably benign Het
Uck2 T C 1: 167,064,259 (GRCm39) D90G probably damaging Het
Vmn1r229 A T 17: 21,034,950 (GRCm39) E65V probably benign Het
Vmn2r26 A G 6: 124,038,129 (GRCm39) E568G probably damaging Het
Whamm A G 7: 81,235,886 (GRCm39) E363G probably damaging Het
Wrap53 A G 11: 69,453,272 (GRCm39) S390P probably damaging Het
Wrn A G 8: 33,757,848 (GRCm39) S814P probably benign Het
Zfp329 A G 7: 12,544,211 (GRCm39) C438R probably damaging Het
Zkscan8 T C 13: 21,710,930 (GRCm39) Y60C 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
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
Predicted Primers PCR Primer
(F):5'- TTCTGGGCAGGTGAGCAGTACAAG -3'
(R):5'- TAAACAGTGTCAGCCTGACCCAGC -3'

Sequencing Primer
(F):5'- GACCCATCTGGTGCTGATCC -3'
(R):5'- GCTGAAGGGAAAGACTTTCTATCC -3'
Posted On 2013-07-30