Incidental Mutation 'R4418:Agap2'
ID 326949
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 041139-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.346) question?
Stock # R4418 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 126911154-126929039 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 126927519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tryptophan at position 1113 (C1113W)
Ref Sequence ENSEMBL: ENSMUSP00000151946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039259] [ENSMUST00000080975] [ENSMUST00000164259] [ENSMUST00000217941]
AlphaFold Q3UHD9
Predicted Effect probably damaging
Transcript: ENSMUST00000039259
AA Change: C1133W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043466
Gene: ENSMUSG00000025422
AA Change: C1133W

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 benign
Transcript: ENSMUST00000080975
SMART Domains Protein: ENSMUSP00000079770
Gene: ENSMUSG00000040462

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
low complexity region 54 65 N/A INTRINSIC
Pfam:PRKCSH 108 181 2.3e-19 PFAM
low complexity region 317 331 N/A INTRINSIC
low complexity region 337 346 N/A INTRINSIC
coiled coil region 418 449 N/A INTRINSIC
low complexity region 518 533 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164259
SMART Domains Protein: ENSMUSP00000128914
Gene: ENSMUSG00000040462

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
low complexity region 54 65 N/A INTRINSIC
Pfam:PRKCSH 108 181 8.6e-19 PFAM
low complexity region 317 331 N/A INTRINSIC
low complexity region 337 346 N/A INTRINSIC
coiled coil region 418 449 N/A INTRINSIC
low complexity region 518 551 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000217941
AA Change: C1113W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 95% (72/76)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik A G 1: 159,872,372 (GRCm39) noncoding transcript Het
Acot12 A G 13: 91,932,524 (GRCm39) T507A possibly damaging Het
Ap3s1-ps2 A T 8: 95,131,921 (GRCm39) noncoding transcript Het
B3gnt3 T C 8: 72,146,413 (GRCm39) R39G probably benign Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Cdcp3 A T 7: 130,849,194 (GRCm39) D899V possibly damaging Het
Chad C T 11: 94,458,663 (GRCm39) H271Y possibly damaging Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Col6a1 T A 10: 76,554,239 (GRCm39) K323* probably null Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dclre1c T C 2: 3,453,972 (GRCm39) F285S possibly damaging Het
Dctn2 T G 10: 127,114,234 (GRCm39) M360R probably benign Het
Dele1 T C 18: 38,394,340 (GRCm39) probably null Het
Dgka A T 10: 128,563,963 (GRCm39) L462Q probably damaging Het
Drg2 A C 11: 60,358,972 (GRCm39) K364T probably damaging Het
Dync1li1 T A 9: 114,535,238 (GRCm39) S167R probably damaging Het
Entrep1 T C 19: 23,956,799 (GRCm39) T365A probably benign Het
Fer A T 17: 64,336,286 (GRCm39) D554V possibly damaging Het
Fignl2 A G 15: 100,951,830 (GRCm39) S151P possibly damaging Het
Gbgt1 A G 2: 28,388,420 (GRCm39) Y35C probably damaging Het
Gm6526 T A 14: 43,986,302 (GRCm39) I79K probably damaging Het
Gpr6 T G 10: 40,946,604 (GRCm39) N326T probably damaging Het
H2bc4 C T 13: 23,868,486 (GRCm39) T91M probably damaging Het
Hcn4 C T 9: 58,751,178 (GRCm39) T268M probably benign Het
Hnf4g A G 3: 3,713,154 (GRCm39) M243V possibly damaging Het
Homer1 A G 13: 93,538,577 (GRCm39) E314G probably damaging Het
Hs6st1 T C 1: 36,143,108 (GRCm39) Y348H probably damaging Het
Ifitm6 A T 7: 140,595,984 (GRCm39) I103N probably damaging Het
Ipo5 T G 14: 121,181,305 (GRCm39) C944G possibly damaging Het
Kcnb1 C A 2: 166,947,595 (GRCm39) E418* probably null Het
Kcnk2 G A 1: 188,988,924 (GRCm39) R207C probably damaging Het
Kctd8 T C 5: 69,498,505 (GRCm39) E47G probably damaging Het
Klhdc2 C T 12: 69,354,371 (GRCm39) probably benign Het
Lrrc37 T C 11: 103,509,140 (GRCm39) probably benign Het
Mgat1 A G 11: 49,152,072 (GRCm39) Y185C probably damaging Het
Mmp25 T A 17: 23,863,044 (GRCm39) R122S probably damaging Het
Mrpl39 C A 16: 84,522,012 (GRCm39) probably null Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Nek1 T C 8: 61,559,898 (GRCm39) F1007S probably damaging Het
Neto1 T C 18: 86,422,981 (GRCm39) M146T probably benign Het
Opn1sw G A 6: 29,379,423 (GRCm39) R45* probably null Het
Osbpl5 A T 7: 143,263,552 (GRCm39) C98* probably null Het
Pacc1 T A 1: 191,080,629 (GRCm39) V283E probably damaging Het
Pcdhb7 C T 18: 37,476,535 (GRCm39) A557V probably benign Het
Pecam1 A G 11: 106,586,748 (GRCm39) F155L possibly damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pmfbp1 C A 8: 110,257,265 (GRCm39) Q609K probably benign Het
Pnpo A T 11: 96,831,795 (GRCm39) probably null Het
Ppp2cb G A 8: 34,107,077 (GRCm39) R254Q probably benign Het
Qser1 A T 2: 104,619,766 (GRCm39) S349T probably damaging Het
Rnf167 T A 11: 70,538,743 (GRCm39) W17R probably damaging Het
Rpl21-ps4 A G 14: 11,227,879 (GRCm38) noncoding transcript Het
Rxfp2 A T 5: 149,972,265 (GRCm39) H158L probably benign Het
Ryr3 C T 2: 112,661,569 (GRCm39) C1807Y probably damaging Het
Scaper T A 9: 55,745,464 (GRCm39) E601D probably damaging Het
Secisbp2l A T 2: 125,594,835 (GRCm39) C542S probably benign Het
Slc6a19 A G 13: 73,832,514 (GRCm39) V393A possibly damaging Het
Stil A G 4: 114,866,574 (GRCm39) N176S probably benign Het
Tap1 T A 17: 34,407,353 (GRCm39) probably null Het
Tcl1b3 A T 12: 105,159,844 (GRCm39) Q105L probably damaging Het
Trappc10 G T 10: 78,053,022 (GRCm39) A251D probably damaging Het
Trim43a G T 9: 88,464,206 (GRCm39) C39F probably damaging Het
Ttn A T 2: 76,719,825 (GRCm39) probably benign Het
Vmn2r110 A T 17: 20,803,951 (GRCm39) L208* probably null Het
Vmn2r88 G T 14: 51,655,538 (GRCm39) L583F probably damaging Het
Wasf1 C T 10: 40,812,578 (GRCm39) H456Y unknown Het
Zfp120 A G 2: 149,960,105 (GRCm39) I73T possibly damaging Het
Zfp990 T C 4: 145,263,298 (GRCm39) C99R 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
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'- CCCACGTTGTCATTACACAGC -3'
(R):5'- GCAACTATACCAGCGCGATC -3'

Sequencing Primer
(F):5'- ACGTTGTCATTACACAGCTGCTG -3'
(R):5'- AGCGCGATCGTGGTGTC -3'
Posted On 2015-07-07