Incidental Mutation 'R7347:Asap2'
ID 570302
Institutional Source Beutler Lab
Gene Symbol Asap2
Ensembl Gene ENSMUSG00000052632
Gene Name ArfGAP with SH3 domain, ankyrin repeat and PH domain 2
Synonyms 6530401G17Rik, LOC385250, Ddef2
MMRRC Submission 045374-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R7347 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 21161369-21320172 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 21279458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 418 (I418S)
Ref Sequence ENSEMBL: ENSMUSP00000099098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050990] [ENSMUST00000064595] [ENSMUST00000090834] [ENSMUST00000101562]
AlphaFold Q7SIG6
Predicted Effect probably damaging
Transcript: ENSMUST00000050990
AA Change: I415S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000054631
Gene: ENSMUSG00000052632
AA Change: I415S

DomainStartEndE-ValueType
low complexity region 127 144 N/A INTRINSIC
low complexity region 154 166 N/A INTRINSIC
PH 306 399 2.31e-18 SMART
ArfGap 421 541 6.82e-27 SMART
ANK 584 616 6.17e-1 SMART
ANK 620 649 4.03e-5 SMART
ANK 653 683 1.48e3 SMART
low complexity region 693 707 N/A INTRINSIC
low complexity region 765 789 N/A INTRINSIC
low complexity region 827 847 N/A INTRINSIC
SH3 896 954 4.28e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000064595
AA Change: I415S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063217
Gene: ENSMUSG00000052632
AA Change: I415S

DomainStartEndE-ValueType
Pfam:BAR 11 247 2.4e-9 PFAM
Pfam:BAR_3 31 265 3.3e-28 PFAM
PH 306 399 2.31e-18 SMART
ArfGap 421 541 6.82e-27 SMART
ANK 584 616 6.17e-1 SMART
ANK 620 649 4.03e-5 SMART
ANK 653 683 1.48e3 SMART
low complexity region 693 707 N/A INTRINSIC
low complexity region 765 789 N/A INTRINSIC
low complexity region 837 849 N/A INTRINSIC
low complexity region 872 892 N/A INTRINSIC
SH3 941 999 4.28e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000090834
SMART Domains Protein: ENSMUSP00000088344
Gene: ENSMUSG00000052632

DomainStartEndE-ValueType
low complexity region 127 144 N/A INTRINSIC
low complexity region 154 166 N/A INTRINSIC
Blast:PH 196 318 1e-50 BLAST
Blast:ArfGap 334 395 5e-30 BLAST
ANK 438 470 6.17e-1 SMART
ANK 474 503 4.03e-5 SMART
ANK 507 537 1.48e3 SMART
low complexity region 547 561 N/A INTRINSIC
low complexity region 619 643 N/A INTRINSIC
low complexity region 681 701 N/A INTRINSIC
SH3 750 808 4.28e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000101562
AA Change: I418S

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000099098
Gene: ENSMUSG00000052632
AA Change: I418S

DomainStartEndE-ValueType
low complexity region 127 144 N/A INTRINSIC
low complexity region 154 166 N/A INTRINSIC
PH 309 402 2.31e-18 SMART
ArfGap 424 544 6.82e-27 SMART
ANK 587 619 6.17e-1 SMART
ANK 623 652 4.03e-5 SMART
ANK 656 686 1.48e3 SMART
low complexity region 696 710 N/A INTRINSIC
low complexity region 768 792 N/A INTRINSIC
low complexity region 830 850 N/A INTRINSIC
SH3 899 957 4.28e-16 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (80/80)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multidomain protein containing an N-terminal alpha-helical region with a coiled-coil motif, followed by a pleckstrin homology (PH) domain, an Arf-GAP domain, an ankyrin homology region, a proline-rich region, and a C-terminal Src homology 3 (SH3) domain. The protein localizes in the Golgi apparatus and at the plasma membrane, where it colocalizes with protein tyrosine kinase 2-beta (PYK2). The encoded protein forms a stable complex with PYK2 in vivo. This interaction appears to be mediated by binding of its SH3 domain to the C-terminal proline-rich domain of PYK2. The encoded protein is tyrosine phosphorylated by activated PYK2. It has catalytic activity for class I and II ArfGAPs in vitro, and can bind the class III Arf ARF6 without immediate GAP activity. The encoded protein is believed to function as an ARF GAP that controls ARF-mediated vesicle budding when recruited to Golgi membranes. In addition, it functions as a substrate and downstream target for PYK2 and SRC, a pathway that may be involved in the regulation of vesicular transport. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930564D02Rik G T 3: 104,985,728 (GRCm39) R47S unknown Het
Abtb2 T G 2: 103,397,757 (GRCm39) I229S probably damaging Het
Adgre1 T C 17: 57,727,441 (GRCm39) L457P probably damaging Het
Amer3 C A 1: 34,626,983 (GRCm39) D407E probably damaging Het
Arhgap20 T C 9: 51,760,335 (GRCm39) S729P probably benign Het
Atp5mf T C 5: 145,125,295 (GRCm39) probably null Het
Brinp3 T A 1: 146,777,824 (GRCm39) V757E probably benign Het
Brip1 C T 11: 86,029,929 (GRCm39) G572R probably benign Het
C3 C A 17: 57,530,215 (GRCm39) R462L probably benign Het
Cat T A 2: 103,293,643 (GRCm39) H395L probably benign Het
Ccdc168 G T 1: 44,098,656 (GRCm39) P814Q probably damaging Het
Cela3a T C 4: 137,129,917 (GRCm39) N235D possibly damaging Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Cntnap1 G T 11: 101,076,094 (GRCm39) G993W probably damaging Het
Col9a1 A G 1: 24,218,484 (GRCm39) probably null Het
Coro2b G T 9: 62,396,654 (GRCm39) H29N probably benign Het
Dll3 C T 7: 27,998,536 (GRCm39) R143H probably damaging Het
Dsel C T 1: 111,789,303 (GRCm39) G411S probably damaging Het
Dync1i1 T A 6: 5,784,530 (GRCm39) *114R probably null Het
Ecm2 T C 13: 49,668,554 (GRCm39) S86P probably damaging Het
Eif5 T C 12: 111,506,724 (GRCm39) probably benign Het
Ets1 T A 9: 32,644,328 (GRCm39) probably null Het
Exph5 A G 9: 53,287,196 (GRCm39) N1426D possibly damaging Het
Eya2 T C 2: 165,529,586 (GRCm39) F110L probably benign Het
Flt1 T A 5: 147,517,191 (GRCm39) E1032V probably damaging Het
Galnt5 A T 2: 57,907,205 (GRCm39) H556L probably benign Het
Glb1l3 A T 9: 26,740,299 (GRCm39) Y344N probably benign Het
Glrx3 C A 7: 137,061,015 (GRCm39) D216E possibly damaging Het
Gm45871 T A 18: 90,609,499 (GRCm39) C246S probably damaging Het
Gstm4 A G 3: 107,949,689 (GRCm39) L137P probably benign Het
Hsd17b13 T C 5: 104,116,616 (GRCm39) T169A probably damaging Het
Hydin A C 8: 111,326,994 (GRCm39) T4778P probably benign Het
Ifna15 A G 4: 88,476,220 (GRCm39) L88P probably damaging Het
Inhca T A 9: 103,159,845 (GRCm39) E22V possibly damaging Het
Kcnab1 G A 3: 65,283,952 (GRCm39) R390H probably benign Het
Kng1 C A 16: 22,886,537 (GRCm39) H161N possibly damaging Het
Lamp5 T C 2: 135,902,878 (GRCm39) V199A probably benign Het
Lrig3 G A 10: 125,845,835 (GRCm39) V755M probably damaging Het
Mad1l1 C T 5: 140,129,799 (GRCm39) R412H probably damaging Het
Marchf6 C A 15: 31,486,505 (GRCm39) C350F probably benign Het
Mastl A G 2: 23,023,401 (GRCm39) S441P probably damaging Het
Mfsd13b A T 7: 120,590,951 (GRCm39) M231L probably benign Het
Mical2 T C 7: 111,981,358 (GRCm39) V444A probably benign Het
Ms4a6d G A 19: 11,567,437 (GRCm39) Q155* probably null Het
Myo15a A G 11: 60,368,787 (GRCm39) M516V probably benign Het
Myo1b A T 1: 51,790,413 (GRCm39) F1110L probably damaging Het
Nbr1 T A 11: 101,460,147 (GRCm39) L381* probably null Het
Nln T C 13: 104,187,355 (GRCm39) K325E probably damaging Het
Nr4a3 T G 4: 48,051,290 (GRCm39) S15A possibly damaging Het
Nrp2 C T 1: 62,784,663 (GRCm39) P271S probably benign Het
Obox6 A C 7: 15,568,571 (GRCm39) L102V possibly damaging Het
Or4a69 T C 2: 89,312,799 (GRCm39) S227G probably benign Het
Or4p8 T C 2: 88,727,615 (GRCm39) I109V possibly damaging Het
Or7g33 A G 9: 19,448,395 (GRCm39) M277T probably damaging Het
Or8k16 T C 2: 85,520,181 (GRCm39) M136T probably damaging Het
Pde10a A G 17: 9,186,294 (GRCm39) H567R probably damaging Het
Pdgfra C T 5: 75,343,759 (GRCm39) S760L possibly damaging Het
Pid1 T A 1: 84,136,850 (GRCm39) I94L unknown Het
Plekhn1 T C 4: 156,307,128 (GRCm39) H474R probably benign Het
Prcc A T 3: 87,776,988 (GRCm39) S329T possibly damaging Het
Pros1 G T 16: 62,739,886 (GRCm39) R445L probably damaging Het
Pxdn C A 12: 30,062,260 (GRCm39) H1370Q probably benign Het
Sgce T A 6: 4,694,106 (GRCm39) R283S probably damaging Het
Slc25a20 T G 9: 108,559,657 (GRCm39) probably null Het
Slc6a1 T C 6: 114,288,779 (GRCm39) V446A probably damaging Het
Slc6a4 C G 11: 76,907,911 (GRCm39) Y358* probably null Het
Sned1 A C 1: 93,209,458 (GRCm39) E857A probably damaging Het
Spata31e2 A T 1: 26,723,548 (GRCm39) L544Q probably benign Het
Spata31e3 T C 13: 50,399,780 (GRCm39) I849V probably benign Het
Spdye4b C T 5: 143,188,145 (GRCm39) R213C possibly damaging Het
Spry2 T G 14: 106,130,946 (GRCm39) E80A probably damaging Het
Stard9 G A 2: 120,497,015 (GRCm39) C142Y probably benign Het
Sync A T 4: 129,188,099 (GRCm39) Q377L probably benign Het
Tdrd12 A G 7: 35,185,117 (GRCm39) C718R Het
Tgoln1 G C 6: 72,593,261 (GRCm39) T73R probably benign Het
Tmbim1 T C 1: 74,330,438 (GRCm39) E185G probably benign Het
Tyk2 T C 9: 21,019,330 (GRCm39) M1031V probably damaging Het
Vmn1r71 C T 7: 10,482,428 (GRCm39) V87I not run Het
Vmn2r49 A G 7: 9,720,741 (GRCm39) V250A probably benign Het
Yipf3 A C 17: 46,561,753 (GRCm39) T187P probably damaging Het
Zfp148 G T 16: 33,255,160 (GRCm39) R50L possibly damaging Het
Zfp628 G A 7: 4,924,817 (GRCm39) G1013E probably damaging Het
Other mutations in Asap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00791:Asap2 APN 12 21,289,649 (GRCm39) missense possibly damaging 0.66
IGL01140:Asap2 APN 12 21,256,317 (GRCm39) missense probably damaging 1.00
IGL01285:Asap2 APN 12 21,279,264 (GRCm39) missense probably damaging 1.00
IGL01318:Asap2 APN 12 21,297,296 (GRCm39) missense probably null 0.00
IGL01355:Asap2 APN 12 21,268,087 (GRCm39) splice site probably benign
IGL01593:Asap2 APN 12 21,263,203 (GRCm39) missense probably null 0.03
IGL01705:Asap2 APN 12 21,299,369 (GRCm39) missense possibly damaging 0.85
IGL01716:Asap2 APN 12 21,304,307 (GRCm39) missense possibly damaging 0.94
IGL02822:Asap2 APN 12 21,315,911 (GRCm39) missense probably damaging 1.00
IGL02876:Asap2 APN 12 21,308,164 (GRCm39) missense probably benign 0.00
IGL02991:Asap2 APN 12 21,299,294 (GRCm39) splice site probably benign
R0157:Asap2 UTSW 12 21,256,326 (GRCm39) missense probably damaging 1.00
R0399:Asap2 UTSW 12 21,267,998 (GRCm39) missense possibly damaging 0.90
R0472:Asap2 UTSW 12 21,263,186 (GRCm39) missense possibly damaging 0.47
R0959:Asap2 UTSW 12 21,297,320 (GRCm39) missense probably damaging 1.00
R0981:Asap2 UTSW 12 21,315,961 (GRCm39) missense probably damaging 0.98
R1141:Asap2 UTSW 12 21,235,111 (GRCm39) missense probably damaging 1.00
R1382:Asap2 UTSW 12 21,315,955 (GRCm39) missense probably damaging 1.00
R1418:Asap2 UTSW 12 21,289,590 (GRCm39) missense probably damaging 1.00
R1418:Asap2 UTSW 12 21,289,586 (GRCm39) missense probably damaging 1.00
R1469:Asap2 UTSW 12 21,263,180 (GRCm39) missense probably benign 0.00
R1469:Asap2 UTSW 12 21,263,180 (GRCm39) missense probably benign 0.00
R1526:Asap2 UTSW 12 21,235,188 (GRCm39) missense probably damaging 1.00
R1542:Asap2 UTSW 12 21,315,998 (GRCm39) missense probably damaging 1.00
R1710:Asap2 UTSW 12 21,274,393 (GRCm39) missense probably damaging 1.00
R1750:Asap2 UTSW 12 21,253,999 (GRCm39) missense probably damaging 1.00
R2151:Asap2 UTSW 12 21,162,084 (GRCm39) missense probably damaging 1.00
R2152:Asap2 UTSW 12 21,162,084 (GRCm39) missense probably damaging 1.00
R2154:Asap2 UTSW 12 21,162,084 (GRCm39) missense probably damaging 1.00
R2323:Asap2 UTSW 12 21,253,969 (GRCm39) missense probably damaging 1.00
R2378:Asap2 UTSW 12 21,304,319 (GRCm39) missense possibly damaging 0.95
R3151:Asap2 UTSW 12 21,274,378 (GRCm39) missense probably damaging 1.00
R3757:Asap2 UTSW 12 21,317,767 (GRCm39) missense probably damaging 1.00
R4305:Asap2 UTSW 12 21,279,482 (GRCm39) missense probably damaging 1.00
R4307:Asap2 UTSW 12 21,279,482 (GRCm39) missense probably damaging 1.00
R4308:Asap2 UTSW 12 21,279,482 (GRCm39) missense probably damaging 1.00
R4345:Asap2 UTSW 12 21,280,832 (GRCm39) missense probably damaging 1.00
R4525:Asap2 UTSW 12 21,279,293 (GRCm39) splice site probably null
R4562:Asap2 UTSW 12 21,162,094 (GRCm39) missense probably damaging 1.00
R4999:Asap2 UTSW 12 21,302,766 (GRCm39) missense probably benign 0.19
R5027:Asap2 UTSW 12 21,254,082 (GRCm39) missense probably damaging 1.00
R5221:Asap2 UTSW 12 21,263,191 (GRCm39) missense probably benign 0.14
R5645:Asap2 UTSW 12 21,315,983 (GRCm39) missense probably damaging 0.99
R5799:Asap2 UTSW 12 21,218,247 (GRCm39) missense probably damaging 1.00
R5876:Asap2 UTSW 12 21,262,810 (GRCm39) missense possibly damaging 0.88
R5888:Asap2 UTSW 12 21,268,191 (GRCm39) missense probably damaging 1.00
R5912:Asap2 UTSW 12 21,256,344 (GRCm39) missense probably damaging 1.00
R6576:Asap2 UTSW 12 21,294,704 (GRCm39) missense probably damaging 1.00
R6896:Asap2 UTSW 12 21,315,526 (GRCm39) missense probably damaging 1.00
R6934:Asap2 UTSW 12 21,218,251 (GRCm39) missense probably damaging 1.00
R7134:Asap2 UTSW 12 21,315,964 (GRCm39) nonsense probably null
R7378:Asap2 UTSW 12 21,162,052 (GRCm39) missense probably benign 0.01
R7515:Asap2 UTSW 12 21,279,240 (GRCm39) missense possibly damaging 0.76
R8033:Asap2 UTSW 12 21,274,390 (GRCm39) missense probably damaging 1.00
R8793:Asap2 UTSW 12 21,218,212 (GRCm39) missense probably damaging 1.00
R8891:Asap2 UTSW 12 21,162,144 (GRCm39) missense probably damaging 1.00
R8972:Asap2 UTSW 12 21,279,249 (GRCm39) missense probably damaging 1.00
R9021:Asap2 UTSW 12 21,253,999 (GRCm39) missense possibly damaging 0.94
R9216:Asap2 UTSW 12 21,263,191 (GRCm39) missense probably benign 0.14
R9323:Asap2 UTSW 12 21,162,148 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGGACGTACCACTTCCAAGC -3'
(R):5'- AGCCCAGACTGCTTTGTACC -3'

Sequencing Primer
(F):5'- CAAGAATGTCAGATGTAAGTGCTGTG -3'
(R):5'- CCAAATGCCCTAGAGCTG -3'
Posted On 2019-09-13