Incidental Mutation 'R5994:Arhgap21'
ID 480977
Institutional Source Beutler Lab
Gene Symbol Arhgap21
Ensembl Gene ENSMUSG00000036591
Gene Name Rho GTPase activating protein 21
Synonyms ARHGAP10, 5530401C11Rik
MMRRC Submission 044173-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.570) question?
Stock # R5994 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 20852730-20973692 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 20886187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 330 (G330D)
Ref Sequence ENSEMBL: ENSMUSP00000133851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114594] [ENSMUST00000141298] [ENSMUST00000154230] [ENSMUST00000173194] [ENSMUST00000174584]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000114594
AA Change: G334D

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110241
Gene: ENSMUSG00000036591
AA Change: G334D

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 possibly damaging
Transcript: ENSMUST00000141298
AA Change: G340D

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000120357
Gene: ENSMUSG00000036591
AA Change: G340D

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 possibly damaging
Transcript: ENSMUST00000154230
AA Change: G340D

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000122497
Gene: ENSMUSG00000036591
AA Change: G340D

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: ENSMUST00000156142
Predicted Effect possibly damaging
Transcript: ENSMUST00000173194
AA Change: G330D

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000133851
Gene: ENSMUSG00000036591
AA Change: G330D

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 benign
Transcript: ENSMUST00000174584
AA Change: G169D

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000133347
Gene: ENSMUSG00000036591
AA Change: G169D

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.7%
Validation Efficiency
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,647,862 (GRCm39) H1118L probably benign Het
Abca8b A G 11: 109,840,592 (GRCm39) probably null Het
Abcb5 A T 12: 118,928,995 (GRCm39) probably null Het
Adcy6 A T 15: 98,491,545 (GRCm39) I1016N probably damaging Het
Afg3l2 A T 18: 67,562,140 (GRCm39) C312S probably damaging Het
Ano8 C T 8: 71,937,478 (GRCm39) V89M probably damaging Het
Caskin1 T C 17: 24,715,935 (GRCm39) L195P probably damaging Het
Cfap54 A G 10: 92,874,943 (GRCm39) I514T probably damaging Het
Ctdsp2 G A 10: 126,831,689 (GRCm39) probably benign Het
Cyp4x1 T C 4: 114,979,142 (GRCm39) I152V probably benign Het
Dglucy G A 12: 100,808,959 (GRCm39) R219Q probably benign Het
Disp3 G T 4: 148,338,741 (GRCm39) A810E possibly damaging Het
Dtx4 T C 19: 12,478,517 (GRCm39) Y22C probably damaging Het
Edaradd A T 13: 12,493,377 (GRCm39) I105N probably damaging Het
Eepd1 C T 9: 25,514,749 (GRCm39) P519S probably damaging Het
Fscn3 A T 6: 28,430,294 (GRCm39) S155C probably benign Het
Gm10134 A T 2: 28,396,258 (GRCm39) E51V probably damaging Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Golga7 T C 8: 23,740,281 (GRCm39) E83G probably benign Het
Gpr12 T C 5: 146,520,241 (GRCm39) H227R probably damaging Het
Hoxa2 T G 6: 52,141,372 (GRCm39) S85R possibly damaging Het
Hrnr T C 3: 93,239,607 (GRCm39) S3282P unknown Het
Ift74 C A 4: 94,579,961 (GRCm39) T543K possibly damaging Het
Klf10 C A 15: 38,296,285 (GRCm39) R420L probably damaging Het
Krt77 T A 15: 101,771,290 (GRCm39) I338F probably damaging Het
Limch1 A T 5: 67,131,965 (GRCm39) S152C probably damaging Het
Mgat4e T A 1: 134,469,234 (GRCm39) H270L probably benign Het
Myrf A T 19: 10,196,481 (GRCm39) L504Q probably null Het
Nckipsd A G 9: 108,691,176 (GRCm39) Q366R probably benign Het
Npy5r A T 8: 67,134,751 (GRCm39) V14D probably benign Het
Nrap T A 19: 56,340,031 (GRCm39) R830* probably null Het
Ogfrl1 A T 1: 23,418,070 (GRCm39) Y103N probably damaging Het
Or10g7 A T 9: 39,905,519 (GRCm39) R138* probably null Het
P2rx4 T A 5: 122,863,142 (GRCm39) L232H probably damaging Het
Pabpc2 A T 18: 39,906,947 (GRCm39) T71S probably benign Het
Paip2b C A 6: 83,785,867 (GRCm39) S121I probably damaging Het
Pofut1 C T 2: 153,103,149 (GRCm39) T261I possibly damaging Het
Ppp6c G T 2: 39,101,004 (GRCm39) T46K possibly damaging Het
Prkd2 C A 7: 16,584,261 (GRCm39) H371Q probably benign Het
Prrc2c A T 1: 162,501,725 (GRCm39) probably null Het
Psd3 C T 8: 68,172,620 (GRCm39) A894T probably damaging Het
Pygm A T 19: 6,448,073 (GRCm39) probably null Het
Pzp A T 6: 128,468,560 (GRCm39) M989K probably damaging Het
Ralgapa2 A T 2: 146,203,373 (GRCm39) S1159T probably benign Het
Rapgefl1 T C 11: 98,740,986 (GRCm39) F575L probably benign Het
Rassf6 A G 5: 90,765,627 (GRCm39) L28S probably damaging Het
Rbp3 G T 14: 33,676,857 (GRCm39) K268N probably damaging Het
Rela C T 19: 5,697,092 (GRCm39) T433M possibly damaging Het
Rnf103 T A 6: 71,473,894 (GRCm39) S102R probably damaging Het
Scarf2 A G 16: 17,624,243 (GRCm39) N516S probably damaging Het
Sdcbp2 T C 2: 151,429,403 (GRCm39) I241T probably damaging Het
Septin7 T C 9: 25,199,494 (GRCm39) I131T possibly damaging Het
Sh3pxd2b T C 11: 32,357,570 (GRCm39) F191L probably damaging Het
Siglec15 C A 18: 78,090,590 (GRCm39) C236F probably damaging Het
Slc11a2 T C 15: 100,295,562 (GRCm39) T520A probably benign Het
Slc26a11 C A 11: 119,270,738 (GRCm39) F553L probably benign Het
Smchd1 G A 17: 71,672,404 (GRCm39) P1596S possibly damaging Het
Taar7b A G 10: 23,876,246 (GRCm39) H137R probably damaging Het
Thap12 T A 7: 98,365,237 (GRCm39) C468* probably null Het
Timp4 C T 6: 115,224,315 (GRCm39) G118D probably damaging Het
Tnnt3 A G 7: 142,065,003 (GRCm39) K48E probably damaging Het
Trmt10a T A 3: 137,862,475 (GRCm39) I255N probably damaging Het
Ttll10 T C 4: 156,133,189 (GRCm39) probably null Het
Tut7 T G 13: 59,937,023 (GRCm39) Y806S probably damaging Het
Ube4b A G 4: 149,457,389 (GRCm39) Y283H probably damaging Het
Ucp1 G T 8: 84,020,567 (GRCm39) V126L possibly damaging Het
Unc13b T A 4: 43,172,596 (GRCm39) probably benign Het
Vps13b T C 15: 35,875,918 (GRCm39) S2768P probably damaging Het
Zfp101 T A 17: 33,599,936 (GRCm39) M607L probably benign Het
Zfp292 C T 4: 34,805,464 (GRCm39) V2527M possibly damaging Het
Zfp503 T A 14: 22,035,630 (GRCm39) T429S possibly damaging 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
R4686:Arhgap21 UTSW 2 20,868,033 (GRCm39) missense probably damaging 1.00
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
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'- AGTCTTTCCTGGATTGTCCG -3'
(R):5'- CTGAGAAGGTGGTAGACTTGC -3'

Sequencing Primer
(F):5'- GGATTGTCCGACAACCTATGTGC -3'
(R):5'- TGGTAGACTTGCTAGCCAATAG -3'
Posted On 2017-06-26