Incidental Mutation 'R5027:Asap2'
ID 391459
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 042618-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R5027 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 21161369-21320172 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21254082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 198 (M198V)
Ref Sequence ENSEMBL: ENSMUSP00000054631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050990] [ENSMUST00000064595] [ENSMUST00000090834] [ENSMUST00000101562]
AlphaFold Q7SIG6
Predicted Effect probably damaging
Transcript: ENSMUST00000050990
AA Change: M198V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054631
Gene: ENSMUSG00000052632
AA Change: M198V

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: M198V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063217
Gene: ENSMUSG00000052632
AA Change: M198V

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 possibly damaging
Transcript: ENSMUST00000090834
AA Change: M198V

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000088344
Gene: ENSMUSG00000052632
AA Change: M198V

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 possibly damaging
Transcript: ENSMUST00000101562
AA Change: M198V

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099098
Gene: ENSMUSG00000052632
AA Change: M198V

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 noncoding transcript
Transcript: ENSMUST00000174530
Meta Mutation Damage Score 0.1769 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.6%
Validation Efficiency 97% (97/100)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T G 7: 119,911,505 (GRCm39) I1363R probably benign Het
Abcc1 T C 16: 14,221,917 (GRCm39) probably null Het
Adgrf1 T A 17: 43,614,638 (GRCm39) F241I probably damaging Het
Afg3l1 T C 8: 124,216,553 (GRCm39) M264T probably benign Het
Ankle1 T C 8: 71,861,623 (GRCm39) S434P probably damaging Het
Apoe C T 7: 19,430,940 (GRCm39) A101T probably damaging Het
Apol11a G T 15: 77,401,153 (GRCm39) K213N probably damaging Het
Atg4b C T 1: 93,714,297 (GRCm39) A360V probably benign Het
B3gnt5 T A 16: 19,588,444 (GRCm39) V221D probably damaging Het
Baz2b A T 2: 59,928,988 (GRCm39) probably benign Het
Cep350 C A 1: 155,809,100 (GRCm39) W492L probably benign Het
Cln6 A G 9: 62,754,375 (GRCm39) Y139C probably damaging Het
Col16a1 C T 4: 129,972,988 (GRCm39) T643M probably benign Het
Cul9 C T 17: 46,811,708 (GRCm39) E2507K probably damaging Het
Dgkz A T 2: 91,775,888 (GRCm39) V125D probably benign Het
Dnah17 T C 11: 117,993,365 (GRCm39) M1127V probably benign Het
Dnajb1 C A 8: 84,336,732 (GRCm39) D67E probably benign Het
Dync1li1 A G 9: 114,542,612 (GRCm39) D258G probably damaging Het
Egflam G T 15: 7,283,125 (GRCm39) P311T probably benign Het
Fbxw11 T A 11: 32,602,811 (GRCm39) probably benign Het
Fn3krp T G 11: 121,320,274 (GRCm39) D206E probably benign Het
Fsip2 A G 2: 82,819,477 (GRCm39) H5070R possibly damaging Het
Gm6605 T C 7: 38,149,683 (GRCm39) noncoding transcript Het
Gna14 C A 19: 16,580,636 (GRCm39) T158K probably benign Het
Gstt2 A T 10: 75,667,726 (GRCm39) I243N probably damaging Het
Haus6 C T 4: 86,523,933 (GRCm39) D50N possibly damaging Het
Hcrtr2 A G 9: 76,230,578 (GRCm39) I70T probably benign Het
Herc1 G A 9: 66,380,811 (GRCm39) V3563I probably benign Het
Herc1 A T 9: 66,411,900 (GRCm39) I4707F probably damaging Het
Hic2 C T 16: 17,076,611 (GRCm39) A480V possibly damaging Het
Hsd17b3 A G 13: 64,210,720 (GRCm39) Y212H probably damaging Het
Hspa5 A G 2: 34,665,827 (GRCm39) K557R probably damaging Het
Iqch T C 9: 63,432,294 (GRCm39) E367G possibly damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Lars2 A G 9: 123,270,560 (GRCm39) M551V probably benign Het
Lbp T C 2: 158,150,646 (GRCm39) I57T possibly damaging Het
Liat1 A G 11: 75,891,047 (GRCm39) K54E probably damaging Het
Litaf T C 16: 10,778,868 (GRCm39) Q142R possibly damaging Het
Lpar5 G C 6: 125,059,110 (GRCm39) R277P possibly damaging Het
Muc6 T A 7: 141,216,349 (GRCm39) I2710F probably benign Het
Myo7b T A 18: 32,108,265 (GRCm39) I1199F probably benign Het
Naca A C 10: 127,883,990 (GRCm39) E2140D possibly damaging Het
Nup214 G T 2: 31,881,329 (GRCm39) G396C probably damaging Het
Or2v1 A T 11: 49,025,451 (GRCm39) Q144L probably benign Het
Or5aq7 T A 2: 86,938,150 (GRCm39) I194F probably benign Het
Or5j3 G A 2: 86,128,540 (GRCm39) V127I possibly damaging Het
Or7g33 A G 9: 19,448,573 (GRCm39) Y218H probably damaging Het
Or8b57 A T 9: 40,003,690 (GRCm39) S187T probably damaging Het
P4htm A G 9: 108,456,492 (GRCm39) V436A probably benign Het
Pfkm A G 15: 98,017,307 (GRCm39) I117V possibly damaging Het
Phlpp1 T G 1: 106,209,201 (GRCm39) V518G probably damaging Het
Piwil4 G A 9: 14,621,240 (GRCm39) L598F probably damaging Het
Polr1b T G 2: 128,965,803 (GRCm39) I815R possibly damaging Het
Ppef2 T C 5: 92,382,150 (GRCm39) N515S probably damaging Het
Prp2rt A G 13: 97,235,648 (GRCm39) I33T probably benign Het
Prpsap2 G T 11: 61,631,830 (GRCm39) probably null Het
Rab27a A G 9: 73,002,695 (GRCm39) D208G probably benign Het
Ralgds A G 2: 28,442,102 (GRCm39) probably null Het
Raph1 C A 1: 60,535,436 (GRCm39) C540F probably damaging Het
Rbsn A G 6: 92,175,231 (GRCm39) L281P probably damaging Het
Rigi T A 4: 40,208,845 (GRCm39) M756L probably benign Het
Rmdn1 G T 4: 19,588,533 (GRCm39) G110* probably null Het
Rph3a T A 5: 121,092,512 (GRCm39) E363V possibly damaging Het
Serpina16 G T 12: 103,641,262 (GRCm39) Y154* probably null Het
Sh2d3c G A 2: 32,634,814 (GRCm39) E198K possibly damaging Het
Shank2 C A 7: 143,812,842 (GRCm39) Y663* probably null Het
Sharpin T C 15: 76,234,225 (GRCm39) probably benign Het
Slitrk1 G A 14: 109,149,740 (GRCm39) P324S probably benign Het
Sorbs2 T A 8: 46,199,571 (GRCm39) probably null Het
Spag16 C T 1: 69,962,963 (GRCm39) probably benign Het
Sycp2l A T 13: 41,283,247 (GRCm39) probably null Het
Synj1 A T 16: 90,737,407 (GRCm39) probably null Het
Sytl1 T C 4: 132,983,530 (GRCm39) probably benign Het
Tkfc A T 19: 10,570,023 (GRCm39) probably null Het
Tnn T C 1: 159,972,781 (GRCm39) T274A probably damaging Het
Trav14-2 T A 14: 53,878,505 (GRCm39) W35R probably damaging Het
Trim72 T C 7: 127,607,137 (GRCm39) M222T probably damaging Het
Trim9 A G 12: 70,393,482 (GRCm39) V154A probably damaging Het
Ttc7b T C 12: 100,268,001 (GRCm39) Y266C probably damaging Het
Uchl3 T A 14: 101,903,982 (GRCm39) I43K possibly damaging Het
Vdac1 T A 11: 52,279,305 (GRCm39) N269K possibly damaging Het
Wdr72 T A 9: 74,053,258 (GRCm39) W187R probably damaging Het
Zfp30 T A 7: 29,492,491 (GRCm39) C248* probably null Het
Zfp940 A T 7: 29,550,381 (GRCm39) probably benign Het
Zfp980 G A 4: 145,428,653 (GRCm39) G461S probably benign 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
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
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'- ATCTCTGTAGATGATTCTGAGGC -3'
(R):5'- AGCCACACGCCAGTAAGTAG -3'

Sequencing Primer
(F):5'- AGATGATTCTGAGGCTGTCCAG -3'
(R):5'- GCCAGTAAGTAGTCTAACATTCCTC -3'
Posted On 2016-06-06