Incidental Mutation 'R7134:Asap2'
ID 552934
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 045219-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R7134 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 21161369-21320172 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 21315964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 919 (E919*)
Ref Sequence ENSEMBL: ENSMUSP00000099098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050990] [ENSMUST00000064595] [ENSMUST00000076260] [ENSMUST00000090834] [ENSMUST00000101562] [ENSMUST00000173729] [ENSMUST00000232072]
AlphaFold Q7SIG6
Predicted Effect probably null
Transcript: ENSMUST00000050990
AA Change: E916*
SMART Domains Protein: ENSMUSP00000054631
Gene: ENSMUSG00000052632
AA Change: E916*

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 null
Transcript: ENSMUST00000064595
AA Change: E961*
SMART Domains Protein: ENSMUSP00000063217
Gene: ENSMUSG00000052632
AA Change: E961*

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: ENSMUST00000076260
SMART Domains Protein: ENSMUSP00000075609
Gene: ENSMUSG00000062352

DomainStartEndE-ValueType
low complexity region 4 29 N/A INTRINSIC
PTB 58 200 1.42e-22 SMART
Predicted Effect probably null
Transcript: ENSMUST00000090834
AA Change: E770*
SMART Domains Protein: ENSMUSP00000088344
Gene: ENSMUSG00000052632
AA Change: E770*

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 null
Transcript: ENSMUST00000101562
AA Change: E919*
SMART Domains Protein: ENSMUSP00000099098
Gene: ENSMUSG00000052632
AA Change: E919*

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
Predicted Effect probably benign
Transcript: ENSMUST00000173688
SMART Domains Protein: ENSMUSP00000133557
Gene: ENSMUSG00000062352

DomainStartEndE-ValueType
Pfam:ICAP-1_inte_bdg 1 79 1.1e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173729
SMART Domains Protein: ENSMUSP00000134627
Gene: ENSMUSG00000062352

DomainStartEndE-ValueType
low complexity region 4 29 N/A INTRINSIC
PTB 58 200 1.42e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000232072
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (84/85)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 A G 17: 36,270,144 (GRCm39) F638S possibly damaging Het
Actl6b T A 5: 137,562,762 (GRCm39) N159K probably damaging Het
Adam6a T G 12: 113,508,655 (GRCm39) S343A probably benign Het
Ankrd17 G A 5: 90,380,173 (GRCm39) T2505I probably damaging Het
Ankrd17 T C 5: 90,433,382 (GRCm39) T728A probably benign Het
Atp10b A T 11: 43,136,291 (GRCm39) I1140F probably damaging Het
Cep126 A T 9: 8,103,383 (GRCm39) V209E probably damaging Het
Cfap65 C T 1: 74,965,792 (GRCm39) R406Q probably benign Het
Cldn1 T C 16: 26,190,376 (GRCm39) M1V probably null Het
Cryl1 C T 14: 57,512,956 (GRCm39) D304N probably benign Het
D3Ertd751e T C 3: 41,708,212 (GRCm39) probably null Het
D630044L22Rik A T 17: 26,181,090 (GRCm39) M156L probably benign Het
Ddx21 T C 10: 62,427,634 (GRCm39) D423G possibly damaging Het
Dock2 T A 11: 34,260,363 (GRCm39) M993L probably benign Het
Dusp29 A T 14: 21,727,129 (GRCm39) I173N probably damaging Het
Eif4g1 C T 16: 20,500,252 (GRCm39) A675V probably damaging Het
Eml1 C T 12: 108,472,810 (GRCm39) S206L probably benign Het
Farp2 A C 1: 93,531,181 (GRCm39) I560L probably benign Het
Fbn1 A T 2: 125,223,969 (GRCm39) D593E probably benign Het
Fetub A G 16: 22,748,007 (GRCm39) D61G possibly damaging Het
Fpgs T C 2: 32,576,641 (GRCm39) K329E probably benign Het
Fpgt T C 3: 154,797,120 (GRCm39) Y45C probably damaging Het
Gas2l1 A T 11: 5,011,106 (GRCm39) C574* probably null Het
Gm9747 G T 1: 82,211,837 (GRCm39) C12F unknown Het
H2-T23 T C 17: 36,342,709 (GRCm39) Y143C probably damaging Het
Hhip A T 8: 80,719,142 (GRCm39) S462T probably benign Het
Hnf1a C T 5: 115,091,446 (GRCm39) G416R probably damaging Het
Hoxa5 C T 6: 52,181,023 (GRCm39) C103Y probably damaging Het
Kansl3 G T 1: 36,390,848 (GRCm39) D395E possibly damaging Het
Marchf10 A G 11: 105,299,502 (GRCm39) S116P probably benign Het
Med12l C T 3: 59,001,180 (GRCm39) Q748* probably null Het
Mroh7 T A 4: 106,577,791 (GRCm39) N296Y probably damaging Het
Mtbp T G 15: 55,421,961 (GRCm39) D61E probably benign Het
Muc5b A T 7: 141,411,391 (GRCm39) I1446L unknown Het
Myh15 T C 16: 48,901,705 (GRCm39) V266A possibly damaging Het
Nap1l1 G A 10: 111,330,655 (GRCm39) probably null Het
Napsa A G 7: 44,235,159 (GRCm39) T315A probably benign Het
Nlrc5 A T 8: 95,206,350 (GRCm39) I734F probably damaging Het
Nnt A G 13: 119,531,198 (GRCm39) V183A probably damaging Het
Nploc4 A T 11: 120,276,614 (GRCm39) D477E probably benign Het
Nrip3 A G 7: 109,364,695 (GRCm39) S144P probably damaging Het
Ntng1 A T 3: 109,842,445 (GRCm39) F109L probably benign Het
Or5p61 A G 7: 107,758,883 (GRCm39) Y66H probably damaging Het
Or5v1 T A 17: 37,809,776 (GRCm39) V78D probably damaging Het
Or6aa1 G A 7: 86,044,752 (GRCm39) probably benign Het
Or8b36 A G 9: 37,937,795 (GRCm39) E231G probably benign Het
Pacsin1 G A 17: 27,921,707 (GRCm39) D30N probably damaging Het
Pbld2 A T 10: 62,860,368 (GRCm39) probably benign Het
Pcnx4 C T 12: 72,613,750 (GRCm39) T565I probably damaging Het
Pdzk1 A T 3: 96,763,246 (GRCm39) T225S probably benign Het
Phyhip T G 14: 70,704,639 (GRCm39) I286S probably benign Het
Pkd1 T A 17: 24,813,086 (GRCm39) Y3903N probably damaging Het
Plcb3 A T 19: 6,942,698 (GRCm39) L222Q probably damaging Het
Plcd4 T A 1: 74,593,662 (GRCm39) H262Q probably benign Het
Plekhh1 C T 12: 79,109,390 (GRCm39) A474V probably benign Het
Plppr3 T C 10: 79,701,537 (GRCm39) E435G probably damaging Het
Poln T A 5: 34,276,340 (GRCm39) N305I possibly damaging Het
Pou3f2 T C 4: 22,486,874 (GRCm39) T420A probably benign Het
Ppdpf T C 2: 180,829,523 (GRCm39) Y17H probably damaging Het
Prrx2 C A 2: 30,768,485 (GRCm39) T104K probably damaging Het
Ptprj A T 2: 90,294,822 (GRCm39) L462H probably benign Het
Radil T C 5: 142,471,304 (GRCm39) T991A probably damaging Het
Rbsn T C 6: 92,178,608 (GRCm39) E147G probably damaging Het
Ror2 C T 13: 53,300,742 (GRCm39) V35M probably benign Het
Rps6ka1 T C 4: 133,599,373 (GRCm39) Q18R probably benign Het
Setbp1 T A 18: 78,902,734 (GRCm39) D311V possibly damaging Het
Setd2 C T 9: 110,377,865 (GRCm39) S560L possibly damaging Het
Slc12a5 A T 2: 164,816,878 (GRCm39) I134F probably damaging Het
Speer1h C T 5: 11,647,706 (GRCm39) T148I possibly damaging Het
Svil A G 18: 5,116,080 (GRCm39) D2035G probably damaging Het
Syngap1 T C 17: 27,178,985 (GRCm39) Y665H probably damaging Het
Tbc1d9b T C 11: 50,043,519 (GRCm39) Y547H possibly damaging Het
Tgm2 A G 2: 157,980,812 (GRCm39) V83A probably benign Het
Tmem233 T C 5: 116,189,429 (GRCm39) I117V probably benign Het
Tsen34 A G 7: 3,703,640 (GRCm39) T293A probably damaging Het
Ttn A G 2: 76,709,023 (GRCm39) V8752A unknown Het
Ubac1 A G 2: 25,904,974 (GRCm39) V88A probably benign Het
Uchl4 T C 9: 64,142,621 (GRCm39) V34A probably damaging Het
Ugt2a2 C T 5: 87,608,435 (GRCm39) R468H probably benign Het
Vmn2r102 A T 17: 19,897,749 (GRCm39) T255S probably benign Het
Wdr6 T A 9: 108,450,564 (GRCm39) N988I probably damaging Het
Wnk1 A T 6: 119,903,389 (GRCm39) I2359N unknown Het
Ybey A G 10: 76,304,025 (GRCm39) V59A probably benign Het
Zfp268 T A 4: 145,349,375 (GRCm39) C271S possibly damaging Het
Zfp397 A G 18: 24,090,122 (GRCm39) N142S probably benign Het
Zfy1 A T Y: 725,788 (GRCm39) V659E 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
R7347:Asap2 UTSW 12 21,279,458 (GRCm39) missense probably benign 0.03
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'- TTTCCGAGCCTAGGCACATG -3'
(R):5'- AGATCCAGATTGCTTAGGCTGAG -3'

Sequencing Primer
(F):5'- GGCACATGGCTCATGAGG -3'
(R):5'- ATTGCTTAGGCTGAGAGCTTCCAC -3'
Posted On 2019-05-15