Incidental Mutation 'R2209:Arhgap21'
ID 239231
Institutional Source Beutler Lab
Gene Symbol Arhgap21
Ensembl Gene ENSMUSG00000036591
Gene Name Rho GTPase activating protein 21
Synonyms ARHGAP10, 5530401C11Rik
MMRRC Submission 040211-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.570) question?
Stock # R2209 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 20852730-20973692 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20854331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 1681 (Q1681L)
Ref Sequence ENSEMBL: ENSMUSP00000110241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114594] [ENSMUST00000141298] [ENSMUST00000154230] [ENSMUST00000173194] [ENSMUST00000174584]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000114594
AA Change: Q1681L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110241
Gene: ENSMUSG00000036591
AA Change: Q1681L

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 noncoding transcript
Transcript: ENSMUST00000131542
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136241
Predicted Effect probably damaging
Transcript: ENSMUST00000141298
AA Change: Q1687L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120357
Gene: ENSMUSG00000036591
AA Change: Q1687L

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: ENSMUST00000143491
Predicted Effect probably damaging
Transcript: ENSMUST00000154230
AA Change: Q1687L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122497
Gene: ENSMUSG00000036591
AA Change: Q1687L

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: ENSMUST00000173194
AA Change: Q1677L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133851
Gene: ENSMUSG00000036591
AA Change: Q1677L

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 noncoding transcript
Transcript: ENSMUST00000174825
Predicted Effect probably benign
Transcript: ENSMUST00000174584
SMART Domains Protein: ENSMUSP00000133347
Gene: ENSMUSG00000036591

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik A G 8: 120,884,227 (GRCm39) E330G possibly damaging Het
Apob A C 12: 8,057,752 (GRCm39) D2078A probably benign Het
Arsb A G 13: 93,998,609 (GRCm39) T306A probably benign Het
Brpf3 G A 17: 29,047,394 (GRCm39) D1053N probably damaging Het
Cenpf A T 1: 189,384,795 (GRCm39) I2495N probably benign Het
Col12a1 T C 9: 79,599,634 (GRCm39) K840E possibly damaging Het
Cry1 A G 10: 84,982,619 (GRCm39) L269P probably damaging Het
Cyp21a1 C A 17: 35,021,701 (GRCm39) E289* probably null Het
Dcp2 A T 18: 44,538,581 (GRCm39) K215* probably null Het
Dnaaf11 A G 15: 66,321,400 (GRCm39) I247T probably benign Het
Ecm2 A G 13: 49,683,632 (GRCm39) N537D probably damaging Het
Emid1 G A 11: 5,085,407 (GRCm39) T113M probably benign Het
Exoc8 C T 8: 125,622,918 (GRCm39) W483* probably null Het
Fes A T 7: 80,030,031 (GRCm39) N582K probably damaging Het
Flnb G T 14: 7,905,507 (GRCm38) E1086* probably null Het
Flnc T A 6: 29,455,844 (GRCm39) D2058E possibly damaging Het
Gatb G A 3: 85,561,112 (GRCm39) D543N probably benign Het
Gm14412 A G 2: 177,009,229 (GRCm39) V9A probably damaging Het
Gm4884 T C 7: 40,692,745 (GRCm39) V238A possibly damaging Het
Igfbp5 A G 1: 72,913,096 (GRCm39) V68A possibly damaging Het
Igflr1 T A 7: 30,267,222 (GRCm39) I330N probably damaging Het
Il1r2 A G 1: 40,154,298 (GRCm39) T222A probably benign Het
Krt87 T C 15: 101,330,989 (GRCm39) E419G probably benign Het
Lman2 A G 13: 55,499,315 (GRCm39) S187P probably damaging Het
Mrpl38 T C 11: 116,029,288 (GRCm39) E76G possibly damaging Het
Mtx3 A G 13: 92,984,112 (GRCm39) I130V probably benign Het
Naf1 T G 8: 67,313,188 (GRCm39) probably benign Het
Nkx2-1 T G 12: 56,580,293 (GRCm39) M216L probably benign Het
Notch1 C A 2: 26,350,019 (GRCm39) V2374L probably benign Het
Nrxn2 A G 19: 6,543,037 (GRCm39) D1087G probably benign Het
Nudt8 T C 19: 4,051,902 (GRCm39) F171S probably damaging Het
Or5an1 T G 19: 12,261,224 (GRCm39) F271V probably benign Het
Pds5a A T 5: 65,785,357 (GRCm39) C916* probably null Het
Phyhip A T 14: 70,699,334 (GRCm39) N46Y probably damaging Het
Pomt1 A G 2: 32,140,874 (GRCm39) Y502C possibly damaging Het
Prkcg A C 7: 3,352,097 (GRCm39) probably benign Het
Prl8a6 C T 13: 27,619,369 (GRCm39) E118K probably benign Het
Prpf39 T C 12: 65,104,689 (GRCm39) probably null Het
Ptprb A G 10: 116,205,262 (GRCm39) H2159R probably damaging Het
Ripor2 A T 13: 24,885,595 (GRCm39) D571V probably damaging Het
Rps19 C T 7: 24,584,552 (GRCm39) L34F probably benign Het
Rusc1 A G 3: 88,996,128 (GRCm39) S145P probably damaging Het
Scn4a T A 11: 106,230,051 (GRCm39) T586S probably damaging Het
Slc7a12 A G 3: 14,546,124 (GRCm39) S90G possibly damaging Het
Specc1l A G 10: 75,082,410 (GRCm39) D619G probably damaging Het
Src A G 2: 157,304,710 (GRCm39) D143G probably benign Het
Sst T C 16: 23,708,558 (GRCm39) N91S probably benign Het
Stxbp5l T A 16: 37,036,398 (GRCm39) I406F probably damaging Het
Thsd1 T A 8: 22,748,887 (GRCm39) I525N probably damaging Het
Ticam2 A T 18: 46,693,467 (GRCm39) F207I probably damaging Het
Tsc22d1 C A 14: 76,656,180 (GRCm39) N31K probably damaging Het
Tspan10 T C 11: 120,336,989 (GRCm39) V253A probably benign Het
Ttc33 A G 15: 5,237,924 (GRCm39) K99R possibly damaging Het
Vmn1r63 T A 7: 5,806,212 (GRCm39) N140I probably damaging Het
Yju2b C T 8: 84,990,498 (GRCm39) V45I probably benign Het
Zbtb25 A G 12: 76,395,903 (GRCm39) *440Q probably null Het
Zfhx4 T A 3: 5,461,978 (GRCm39) C1218S probably damaging Het
Zfp84 T A 7: 29,476,607 (GRCm39) I433N probably 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
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
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'- TCGGATTCACTTCTGCTGGG -3'
(R):5'- TACCTACTTGACCAGCCTGGAC -3'

Sequencing Primer
(F):5'- GTGTGAGGAGGCTCCCTGTC -3'
(R):5'- CCTGAGGTGCAGTCAGTG -3'
Posted On 2014-10-15