Incidental Mutation 'R4690:Agap2'
ID 354858
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 041941-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.346) question?
Stock # R4690 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 126911154-126929039 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126927244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1082 (D1082G)
Ref Sequence ENSEMBL: ENSMUSP00000043466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039259] [ENSMUST00000080975] [ENSMUST00000164259] [ENSMUST00000217941]
AlphaFold Q3UHD9
Predicted Effect possibly damaging
Transcript: ENSMUST00000039259
AA Change: D1082G

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043466
Gene: ENSMUSG00000025422
AA Change: D1082G

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 possibly damaging
Transcript: ENSMUST00000217941
AA Change: D1062G

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.0689 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 98% (89/91)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,039,706 (GRCm39) F436L probably damaging Het
Adam28 G T 14: 68,879,497 (GRCm39) Q184K probably benign Het
Adh6a A G 3: 138,031,932 (GRCm39) T275A possibly damaging Het
Alox5 A T 6: 116,400,150 (GRCm39) V263E probably damaging Het
Arhgef16 C T 4: 154,372,420 (GRCm39) probably null Het
Bspry G A 4: 62,404,762 (GRCm39) R186Q probably damaging Het
Ccdc188 T A 16: 18,036,159 (GRCm39) H111Q probably damaging Het
Cd40 T C 2: 164,911,615 (GRCm39) F209S possibly damaging Het
Cfap43 C A 19: 47,736,298 (GRCm39) V1398L probably benign Het
Cln3 A T 7: 126,174,565 (GRCm39) I286N possibly damaging Het
Col9a1 T C 1: 24,263,787 (GRCm39) probably null Het
Cpne9 A G 6: 113,279,016 (GRCm39) E470G probably damaging Het
Cul5 A T 9: 53,534,171 (GRCm39) W654R probably damaging Het
Cyp2a22 T A 7: 26,638,634 (GRCm39) K51* probably null Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Dot1l C A 10: 80,622,016 (GRCm39) S556* probably null Het
Eif3d A T 15: 77,851,516 (GRCm39) M98K probably benign Het
Fiz1 A G 7: 5,012,167 (GRCm39) V117A probably benign Het
Fryl A G 5: 73,257,636 (GRCm39) V722A probably benign Het
Ftdc1 G A 16: 58,434,333 (GRCm39) T128I probably benign Het
Gm3095 G T 14: 3,964,471 (GRCm38) R63I probably benign Het
Gm7133 A T 1: 97,197,224 (GRCm39) noncoding transcript Het
Hoxb8 A T 11: 96,175,286 (GRCm39) D241V probably benign Het
Hrnr A G 3: 93,230,959 (GRCm39) Q399R unknown Het
Itpk1 A T 12: 102,572,434 (GRCm39) V93D probably damaging Het
Kars1 C T 8: 112,729,216 (GRCm39) A164T probably benign Het
Kcnq4 A T 4: 120,574,208 (GRCm39) I150N probably damaging Het
Kcnrg A T 14: 61,849,176 (GRCm39) L212F probably damaging Het
Kif5b A T 18: 6,216,759 (GRCm39) D521E probably benign Het
Klf11 C T 12: 24,705,071 (GRCm39) T158M probably damaging Het
Klhl6 T C 16: 19,776,034 (GRCm39) I175V probably benign Het
Lsm1 A G 8: 26,283,708 (GRCm39) N40S probably damaging Het
Map1b T C 13: 99,567,576 (GRCm39) E1715G unknown Het
Mecom C A 3: 30,292,459 (GRCm39) A4S probably benign Het
Muc5b G A 7: 141,396,031 (GRCm39) V96M unknown Het
Mug2 A T 6: 122,013,255 (GRCm39) I341L probably benign Het
Mxra7 A T 11: 116,707,078 (GRCm39) probably null Het
Myo5a T C 9: 75,061,105 (GRCm39) L537P probably damaging Het
Myo5b A T 18: 74,855,533 (GRCm39) N1241Y probably damaging Het
Naa16 T C 14: 79,582,497 (GRCm39) R531G probably damaging Het
Neb T A 2: 52,134,087 (GRCm39) M3299L probably benign Het
Nlrp4b T A 7: 10,453,130 (GRCm39) Y76N probably benign Het
Nmral1 T C 16: 4,534,205 (GRCm39) T79A probably damaging Het
Noct C T 3: 51,155,300 (GRCm39) Q23* probably null Het
Nrxn1 A T 17: 90,344,509 (GRCm39) V438D probably damaging Het
Or5b109 A C 19: 13,212,132 (GRCm39) N173H possibly damaging Het
Or5m9 T A 2: 85,877,242 (GRCm39) C139S probably damaging Het
Oxct2a T C 4: 123,216,836 (GRCm39) T182A probably benign Het
Pank2 T C 2: 131,115,945 (GRCm39) I121T probably damaging Het
Pcdh1 T A 18: 38,336,528 (GRCm39) T36S probably benign Het
Pfdn1 A T 18: 36,584,133 (GRCm39) M67K possibly damaging Het
Plec T C 15: 76,058,456 (GRCm39) E3849G probably damaging Het
Polr3a A T 14: 24,514,349 (GRCm39) S817T possibly damaging Het
Pomgnt1 T A 4: 116,012,707 (GRCm39) D401E probably damaging Het
Ppp1r13b T A 12: 111,798,992 (GRCm39) D891V probably damaging Het
Prr14l A G 5: 33,001,500 (GRCm39) probably benign Het
Ptk2b A G 14: 66,410,749 (GRCm39) probably null Het
Rab13 G C 3: 90,128,330 (GRCm39) probably null Het
Rexo1 C T 10: 80,382,255 (GRCm39) A751T probably benign Het
Rfx1 T C 8: 84,809,374 (GRCm39) V233A possibly damaging Het
Rnf149 C T 1: 39,616,295 (GRCm39) probably benign Het
Rrm1 A G 7: 102,097,086 (GRCm39) D122G probably benign Het
Serpina1b A G 12: 103,698,639 (GRCm39) F70S probably damaging Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Sh3rf3 T C 10: 58,649,526 (GRCm39) S44P possibly damaging Het
Shroom1 A G 11: 53,356,549 (GRCm39) T471A possibly damaging Het
Slc6a1 A G 6: 114,279,792 (GRCm39) Y152C probably damaging Het
Spata31f3 T A 4: 42,873,032 (GRCm39) probably null Het
Spata6 A T 4: 111,632,023 (GRCm39) T145S probably damaging Het
Srcap G A 7: 127,137,186 (GRCm39) G956D probably damaging Het
Ssh2 A T 11: 77,346,031 (GRCm39) I1339F possibly damaging Het
Tardbp A T 4: 148,697,078 (GRCm39) *99K probably null Het
Tbc1d22a A G 15: 86,196,037 (GRCm39) Y336C probably damaging Het
Tmcc3 G A 10: 94,381,419 (GRCm39) probably benign Het
Tmem178b T G 6: 40,222,547 (GRCm39) D87E probably benign Het
Tmem184a A C 5: 139,791,377 (GRCm39) S380A probably benign Het
Tnfaip2 A G 12: 111,411,682 (GRCm39) K84R possibly damaging Het
Tpgs1 A G 10: 79,511,235 (GRCm39) T126A probably benign Het
Traf3ip1 A G 1: 91,447,834 (GRCm39) E437G possibly damaging Het
Trpc4ap C T 2: 155,477,053 (GRCm39) C755Y probably damaging Het
Tsfm A G 10: 126,866,547 (GRCm39) probably benign Het
Tulp1 A C 17: 28,570,811 (GRCm39) probably benign Het
Vmn1r23 A T 6: 57,903,010 (GRCm39) M256K probably benign Het
Zdhhc8 T C 16: 18,044,605 (GRCm39) D305G probably damaging Het
Zfp326 G A 5: 106,054,942 (GRCm39) R282H 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
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'- TGGATTCGCGCCAAGTATG -3'
(R):5'- AAGGATGTCTGCACACAGCTG -3'

Sequencing Primer
(F):5'- TTCGCGCCAAGTATGAGCAG -3'
(R):5'- GCATAGAACAGTGCCGTGC -3'
Posted On 2015-10-21