Incidental Mutation 'R4686:Arhgap21'
ID 353650
Institutional Source Beutler Lab
Gene Symbol Arhgap21
Ensembl Gene ENSMUSG00000036591
Gene Name Rho GTPase activating protein 21
Synonyms ARHGAP10, 5530401C11Rik
MMRRC Submission 041937-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.570) question?
Stock # R4686 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 20852730-20973692 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20868033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 830 (D830G)
Ref Sequence ENSEMBL: ENSMUSP00000133347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114594] [ENSMUST00000141298] [ENSMUST00000154230] [ENSMUST00000173194] [ENSMUST00000173784] [ENSMUST00000174584]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000114594
AA Change: D995G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110241
Gene: ENSMUSG00000036591
AA Change: D995G

DomainStartEndE-ValueType
PDZ 58 159 1.03e-16 SMART
low complexity region 351 362 N/A INTRINSIC
low complexity region 445 459 N/A INTRINSIC
low complexity region 625 635 N/A INTRINSIC
low complexity region 911 925 N/A INTRINSIC
PH 930 1040 2.09e-16 SMART
RhoGAP 1157 1334 3.26e-62 SMART
low complexity region 1381 1399 N/A INTRINSIC
low complexity region 1448 1466 N/A INTRINSIC
low complexity region 1533 1565 N/A INTRINSIC
low complexity region 1573 1593 N/A INTRINSIC
low complexity region 1891 1900 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127512
Predicted Effect probably damaging
Transcript: ENSMUST00000141298
AA Change: D1001G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120357
Gene: ENSMUSG00000036591
AA Change: D1001G

DomainStartEndE-ValueType
PDZ 64 165 1.03e-16 SMART
low complexity region 357 368 N/A INTRINSIC
low complexity region 451 465 N/A INTRINSIC
low complexity region 631 641 N/A INTRINSIC
low complexity region 917 931 N/A INTRINSIC
PH 936 1046 2.09e-16 SMART
RhoGAP 1163 1340 3.26e-62 SMART
low complexity region 1387 1405 N/A INTRINSIC
low complexity region 1454 1472 N/A INTRINSIC
low complexity region 1539 1571 N/A INTRINSIC
low complexity region 1579 1599 N/A INTRINSIC
low complexity region 1897 1906 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000154230
AA Change: D1001G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122497
Gene: ENSMUSG00000036591
AA Change: D1001G

DomainStartEndE-ValueType
PDZ 64 165 1.03e-16 SMART
low complexity region 357 368 N/A INTRINSIC
low complexity region 451 465 N/A INTRINSIC
low complexity region 631 641 N/A INTRINSIC
low complexity region 917 931 N/A INTRINSIC
PH 936 1046 2.09e-16 SMART
RhoGAP 1163 1340 3.26e-62 SMART
low complexity region 1387 1405 N/A INTRINSIC
low complexity region 1454 1472 N/A INTRINSIC
low complexity region 1539 1571 N/A INTRINSIC
low complexity region 1579 1599 N/A INTRINSIC
low complexity region 1897 1906 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154657
Predicted Effect probably damaging
Transcript: ENSMUST00000173194
AA Change: D991G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133851
Gene: ENSMUSG00000036591
AA Change: D991G

DomainStartEndE-ValueType
PDZ 64 165 1.03e-16 SMART
low complexity region 347 358 N/A INTRINSIC
low complexity region 441 455 N/A INTRINSIC
low complexity region 621 631 N/A INTRINSIC
low complexity region 907 921 N/A INTRINSIC
PH 926 1036 2.09e-16 SMART
RhoGAP 1153 1330 3.26e-62 SMART
low complexity region 1377 1395 N/A INTRINSIC
low complexity region 1444 1462 N/A INTRINSIC
low complexity region 1529 1561 N/A INTRINSIC
low complexity region 1569 1589 N/A INTRINSIC
low complexity region 1887 1896 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000173784
AA Change: D105G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133539
Gene: ENSMUSG00000036591
AA Change: D105G

DomainStartEndE-ValueType
low complexity region 21 35 N/A INTRINSIC
PH 40 150 2.09e-16 SMART
RhoGAP 268 395 1.55e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000174584
AA Change: D830G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133347
Gene: ENSMUSG00000036591
AA Change: D830G

DomainStartEndE-ValueType
low complexity region 186 197 N/A INTRINSIC
low complexity region 280 294 N/A INTRINSIC
low complexity region 460 470 N/A INTRINSIC
low complexity region 746 760 N/A INTRINSIC
PH 765 875 2.09e-16 SMART
RhoGAP 992 1169 3.26e-62 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174825
Meta Mutation Damage Score 0.5031 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 97% (68/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ARHGAP21 functions preferentially as a GTPase-activating protein (GAP) for CDC42 (MIM 116952) and regulates the ARP2/3 complex (MIM 604221) and F-actin dynamics at the Golgi through control of CDC42 activity (Dubois et al., 2005 [PubMed 15793564]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 A G 2: 26,983,837 (GRCm39) N411S probably damaging Het
Adnp A C 2: 168,024,309 (GRCm39) C995W possibly damaging Het
Akap6 CA C 12: 52,934,406 (GRCm39) probably null Het
Ano2 T G 6: 125,767,254 (GRCm39) I228M probably benign Het
Atp13a2 G A 4: 140,730,587 (GRCm39) probably null Het
Ccdc175 C T 12: 72,159,052 (GRCm39) S629N probably damaging Het
Cdhr4 T C 9: 107,872,883 (GRCm39) W311R probably benign Het
Chaf1b A G 16: 93,681,472 (GRCm39) H30R probably benign Het
Clnk G A 5: 38,899,180 (GRCm39) probably benign Het
Copb1 A G 7: 113,820,971 (GRCm39) S773P possibly damaging Het
Cse1l A G 2: 166,774,080 (GRCm39) D198G probably damaging Het
Ears2 A G 7: 121,647,427 (GRCm39) S286P probably damaging Het
Efcab7 A G 4: 99,735,318 (GRCm39) E114G probably benign Het
Fanca G C 8: 123,995,673 (GRCm39) probably benign Het
Flt3 A G 5: 147,313,858 (GRCm39) L64P probably damaging Het
Gabrb1 A G 5: 71,857,365 (GRCm39) T3A possibly damaging Het
Gm10384 T C 15: 36,871,897 (GRCm39) noncoding transcript Het
Gm5117 G A 8: 32,229,284 (GRCm39) noncoding transcript Het
Gpr141 T A 13: 19,935,951 (GRCm39) I275F probably benign Het
Greb1l A T 18: 10,522,112 (GRCm39) E736V probably damaging Het
Hc T C 2: 34,929,260 (GRCm39) E279G possibly damaging Het
Hivep1 C T 13: 42,309,326 (GRCm39) T522M probably benign Het
Hspa12a T A 19: 58,788,181 (GRCm39) E547V possibly damaging Het
Il10ra A G 9: 45,180,357 (GRCm39) L5S probably damaging Het
Iqcf6 G T 9: 106,504,543 (GRCm39) W69L probably damaging Het
Iqgap2 T C 13: 95,858,117 (GRCm39) N379S probably damaging Het
Itpr2 A G 6: 146,131,273 (GRCm39) I1977T probably damaging Het
Kcnq1 A T 7: 142,661,466 (GRCm39) Y124F probably benign Het
Lamp5 C T 2: 135,900,923 (GRCm39) T41M probably damaging Het
Lgr5 A G 10: 115,294,648 (GRCm39) probably benign Het
Mlec A G 5: 115,288,355 (GRCm39) I167T possibly damaging Het
Myf6 A G 10: 107,329,689 (GRCm39) V198A probably benign Het
Nceh1 C T 3: 27,295,818 (GRCm39) R360C probably damaging Het
Nos2 C A 11: 78,819,456 (GRCm39) T56N possibly damaging Het
Npw T G 17: 24,876,386 (GRCm39) H175P probably benign Het
Nrxn3 A T 12: 89,477,421 (GRCm39) I899F probably damaging Het
Ociad1 A G 5: 73,464,078 (GRCm39) T179A possibly damaging Het
Or1e19 A G 11: 73,316,264 (GRCm39) S182P probably benign Het
Or52b4 A G 7: 102,184,356 (GRCm39) Y134C probably damaging Het
Or8b48 T A 9: 38,493,327 (GRCm39) F251L probably damaging Het
Pacsin2 T C 15: 83,265,976 (GRCm39) N74D probably benign Het
Pcdh7 A G 5: 58,286,511 (GRCm39) I1196V probably benign Het
Pdxk A T 10: 78,282,837 (GRCm39) probably null Het
Phb2 G A 6: 124,690,105 (GRCm39) probably null Het
Pus7l T A 15: 94,438,092 (GRCm39) N251I probably damaging Het
Rgs7bp T A 13: 105,100,597 (GRCm39) N226I probably damaging Het
Runx2 T A 17: 44,950,572 (GRCm39) D327V probably damaging Het
Srp68 A T 11: 116,156,227 (GRCm39) C172S probably damaging Het
Stk25 A G 1: 93,551,142 (GRCm39) probably null Het
Tbrg4 C T 11: 6,568,468 (GRCm39) R437Q probably benign Het
Tedc2 C T 17: 24,436,862 (GRCm39) probably null Het
Teddm1a T A 1: 153,768,196 (GRCm39) I220N probably damaging Het
Thoc1 G T 18: 9,970,312 (GRCm39) E221* probably null Het
Tmem132d G T 5: 127,869,674 (GRCm39) D553E possibly damaging Het
Topors A T 4: 40,261,694 (GRCm39) V530D probably benign Het
Tpx2 T C 2: 152,731,103 (GRCm39) V515A possibly damaging Het
Trim24 A G 6: 37,885,240 (GRCm39) H191R probably damaging Het
Ttn G A 2: 76,567,914 (GRCm39) R27660W probably damaging Het
Vmn1r203 T C 13: 22,708,528 (GRCm39) L103P probably damaging Het
Vmn1r233 C T 17: 21,214,368 (GRCm39) S194N probably benign Het
Vmn2r108 T C 17: 20,691,636 (GRCm39) K296E probably damaging Het
Vmn2r88 G A 14: 51,650,796 (GRCm39) E170K probably benign Het
Zfp740 C T 15: 102,117,184 (GRCm39) probably benign Het
Zmym5 A G 14: 57,049,618 (GRCm39) probably benign Het
Other mutations in Arhgap21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01382:Arhgap21 APN 2 20,860,511 (GRCm39) missense probably damaging 1.00
IGL01472:Arhgap21 APN 2 20,854,392 (GRCm39) missense probably damaging 1.00
IGL01634:Arhgap21 APN 2 20,919,455 (GRCm39) missense probably benign 0.00
IGL01766:Arhgap21 APN 2 20,854,448 (GRCm39) missense possibly damaging 0.68
IGL02097:Arhgap21 APN 2 20,884,813 (GRCm39) missense probably benign 0.39
IGL02197:Arhgap21 APN 2 20,885,117 (GRCm39) missense probably benign
IGL02264:Arhgap21 APN 2 20,864,850 (GRCm39) splice site probably null
IGL02346:Arhgap21 APN 2 20,884,762 (GRCm39) splice site probably benign
IGL02418:Arhgap21 APN 2 20,885,711 (GRCm39) missense probably damaging 1.00
IGL02605:Arhgap21 APN 2 20,860,399 (GRCm39) missense probably damaging 1.00
IGL02701:Arhgap21 APN 2 20,896,902 (GRCm39) missense probably damaging 1.00
IGL03019:Arhgap21 APN 2 20,865,874 (GRCm39) missense probably damaging 1.00
IGL03085:Arhgap21 APN 2 20,919,532 (GRCm39) missense probably benign
IGL03265:Arhgap21 APN 2 20,854,439 (GRCm39) missense probably benign 0.03
IGL03379:Arhgap21 APN 2 20,885,500 (GRCm39) missense probably benign 0.41
R0304:Arhgap21 UTSW 2 20,864,612 (GRCm39) splice site probably benign
R0363:Arhgap21 UTSW 2 20,885,944 (GRCm39) missense probably damaging 1.00
R0498:Arhgap21 UTSW 2 20,867,928 (GRCm39) missense probably damaging 1.00
R0539:Arhgap21 UTSW 2 20,919,610 (GRCm39) nonsense probably null
R0633:Arhgap21 UTSW 2 20,860,198 (GRCm39) nonsense probably null
R0905:Arhgap21 UTSW 2 20,854,745 (GRCm39) missense possibly damaging 0.88
R1550:Arhgap21 UTSW 2 20,886,576 (GRCm39) nonsense probably null
R1570:Arhgap21 UTSW 2 20,885,651 (GRCm39) missense probably benign
R1686:Arhgap21 UTSW 2 20,886,659 (GRCm39) missense probably damaging 1.00
R1746:Arhgap21 UTSW 2 20,865,910 (GRCm39) missense probably damaging 0.99
R1864:Arhgap21 UTSW 2 20,866,015 (GRCm39) missense probably damaging 1.00
R1865:Arhgap21 UTSW 2 20,866,015 (GRCm39) missense probably damaging 1.00
R2209:Arhgap21 UTSW 2 20,854,331 (GRCm39) missense probably damaging 1.00
R2211:Arhgap21 UTSW 2 20,886,451 (GRCm39) missense possibly damaging 0.56
R2276:Arhgap21 UTSW 2 20,868,037 (GRCm39) missense possibly damaging 0.94
R2277:Arhgap21 UTSW 2 20,868,037 (GRCm39) missense possibly damaging 0.94
R2279:Arhgap21 UTSW 2 20,868,037 (GRCm39) missense possibly damaging 0.94
R2336:Arhgap21 UTSW 2 20,884,862 (GRCm39) missense probably damaging 1.00
R2516:Arhgap21 UTSW 2 20,859,809 (GRCm39) missense probably damaging 1.00
R3722:Arhgap21 UTSW 2 20,855,102 (GRCm39) missense probably damaging 1.00
R3877:Arhgap21 UTSW 2 20,864,717 (GRCm39) missense probably damaging 0.99
R4017:Arhgap21 UTSW 2 20,896,915 (GRCm39) missense probably benign 0.10
R4232:Arhgap21 UTSW 2 20,891,948 (GRCm39) missense probably damaging 1.00
R4233:Arhgap21 UTSW 2 20,891,948 (GRCm39) missense probably damaging 1.00
R4234:Arhgap21 UTSW 2 20,891,948 (GRCm39) missense probably damaging 1.00
R4235:Arhgap21 UTSW 2 20,891,948 (GRCm39) missense probably damaging 1.00
R4236:Arhgap21 UTSW 2 20,891,948 (GRCm39) missense probably damaging 1.00
R4434:Arhgap21 UTSW 2 20,972,146 (GRCm39) missense probably benign
R4817:Arhgap21 UTSW 2 20,854,967 (GRCm39) missense probably benign
R4834:Arhgap21 UTSW 2 20,870,130 (GRCm39) missense probably damaging 1.00
R4845:Arhgap21 UTSW 2 20,885,998 (GRCm39) missense probably damaging 0.99
R4889:Arhgap21 UTSW 2 20,885,279 (GRCm39) missense probably benign 0.10
R4904:Arhgap21 UTSW 2 20,854,872 (GRCm39) missense probably benign 0.00
R4911:Arhgap21 UTSW 2 20,863,800 (GRCm39) missense probably damaging 1.00
R4994:Arhgap21 UTSW 2 20,854,701 (GRCm39) missense probably benign 0.00
R5067:Arhgap21 UTSW 2 20,884,848 (GRCm39) missense probably damaging 1.00
R5086:Arhgap21 UTSW 2 20,853,645 (GRCm39) missense probably benign 0.00
R5281:Arhgap21 UTSW 2 20,854,127 (GRCm39) missense probably damaging 1.00
R5364:Arhgap21 UTSW 2 20,854,533 (GRCm39) missense probably damaging 1.00
R5420:Arhgap21 UTSW 2 20,885,897 (GRCm39) missense probably damaging 0.99
R5476:Arhgap21 UTSW 2 20,885,497 (GRCm39) missense probably benign 0.06
R5831:Arhgap21 UTSW 2 20,868,024 (GRCm39) missense probably damaging 1.00
R5949:Arhgap21 UTSW 2 20,853,852 (GRCm39) missense probably damaging 0.97
R5994:Arhgap21 UTSW 2 20,886,187 (GRCm39) missense possibly damaging 0.78
R6014:Arhgap21 UTSW 2 20,886,616 (GRCm39) missense probably damaging 1.00
R6739:Arhgap21 UTSW 2 20,885,543 (GRCm39) missense possibly damaging 0.94
R6817:Arhgap21 UTSW 2 20,885,107 (GRCm39) missense probably benign 0.23
R6821:Arhgap21 UTSW 2 20,853,659 (GRCm39) missense probably benign
R6844:Arhgap21 UTSW 2 20,886,116 (GRCm39) missense probably benign 0.00
R6870:Arhgap21 UTSW 2 20,885,321 (GRCm39) missense probably damaging 1.00
R6891:Arhgap21 UTSW 2 20,855,142 (GRCm39) missense probably damaging 0.97
R7011:Arhgap21 UTSW 2 20,853,689 (GRCm39) missense possibly damaging 0.65
R7144:Arhgap21 UTSW 2 20,870,198 (GRCm39) missense probably benign
R7237:Arhgap21 UTSW 2 20,854,783 (GRCm39) nonsense probably null
R7261:Arhgap21 UTSW 2 20,885,177 (GRCm39) missense probably benign
R7558:Arhgap21 UTSW 2 20,860,421 (GRCm39) missense probably damaging 1.00
R7566:Arhgap21 UTSW 2 20,917,102 (GRCm39) missense probably benign 0.17
R7738:Arhgap21 UTSW 2 20,855,169 (GRCm39) missense probably damaging 1.00
R7738:Arhgap21 UTSW 2 20,854,290 (GRCm39) missense probably damaging 1.00
R7820:Arhgap21 UTSW 2 20,867,983 (GRCm39) missense probably damaging 1.00
R7822:Arhgap21 UTSW 2 20,885,524 (GRCm39) missense possibly damaging 0.80
R7965:Arhgap21 UTSW 2 20,854,007 (GRCm39) missense probably damaging 1.00
R7986:Arhgap21 UTSW 2 20,867,967 (GRCm39) missense probably damaging 1.00
R8028:Arhgap21 UTSW 2 20,885,216 (GRCm39) missense probably benign 0.02
R8209:Arhgap21 UTSW 2 20,876,556 (GRCm39) missense probably damaging 1.00
R8226:Arhgap21 UTSW 2 20,876,556 (GRCm39) missense probably damaging 1.00
R8251:Arhgap21 UTSW 2 20,854,221 (GRCm39) missense probably benign
R8486:Arhgap21 UTSW 2 20,865,236 (GRCm39) missense probably damaging 1.00
R8487:Arhgap21 UTSW 2 20,886,116 (GRCm39) missense probably benign 0.08
R8508:Arhgap21 UTSW 2 20,858,991 (GRCm39) missense probably benign 0.17
R8835:Arhgap21 UTSW 2 20,972,144 (GRCm39) nonsense probably null
R9140:Arhgap21 UTSW 2 20,886,025 (GRCm39) missense probably damaging 1.00
R9190:Arhgap21 UTSW 2 20,858,983 (GRCm39) missense probably null 0.04
R9204:Arhgap21 UTSW 2 20,885,816 (GRCm39) missense probably damaging 1.00
R9227:Arhgap21 UTSW 2 20,860,469 (GRCm39) missense possibly damaging 0.92
R9230:Arhgap21 UTSW 2 20,860,469 (GRCm39) missense possibly damaging 0.92
R9308:Arhgap21 UTSW 2 20,854,061 (GRCm39) missense probably damaging 0.99
R9374:Arhgap21 UTSW 2 20,886,397 (GRCm39) missense probably damaging 1.00
R9449:Arhgap21 UTSW 2 20,885,464 (GRCm39) missense probably benign
R9454:Arhgap21 UTSW 2 20,870,153 (GRCm39) missense probably damaging 0.99
R9499:Arhgap21 UTSW 2 20,886,397 (GRCm39) missense probably damaging 1.00
R9544:Arhgap21 UTSW 2 20,858,938 (GRCm39) missense possibly damaging 0.73
R9552:Arhgap21 UTSW 2 20,886,397 (GRCm39) missense probably damaging 1.00
R9567:Arhgap21 UTSW 2 20,896,953 (GRCm39) missense possibly damaging 0.94
R9588:Arhgap21 UTSW 2 20,858,938 (GRCm39) missense possibly damaging 0.73
R9749:Arhgap21 UTSW 2 20,854,026 (GRCm39) missense probably benign 0.00
Z1191:Arhgap21 UTSW 2 20,886,283 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- TCCAATGCTTTTAGTCAGCCTAG -3'
(R):5'- TATTGCATATTGACGAACATGGACC -3'

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