Incidental Mutation 'R2211:Arhgap21'
ID 239352
Institutional Source Beutler Lab
Gene Symbol Arhgap21
Ensembl Gene ENSMUSG00000036591
Gene Name Rho GTPase activating protein 21
Synonyms ARHGAP10, 5530401C11Rik
MMRRC Submission 040213-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.570) question?
Stock # R2211 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 20852730-20973692 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20886451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 242 (M242K)
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 probably benign
Transcript: ENSMUST00000114594
AA Change: M246K

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000110241
Gene: ENSMUSG00000036591
AA Change: M246K

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 probably benign
Transcript: ENSMUST00000141298
AA Change: M252K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000120357
Gene: ENSMUSG00000036591
AA Change: M252K

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 benign
Transcript: ENSMUST00000154230
AA Change: M252K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000122497
Gene: ENSMUSG00000036591
AA Change: M252K

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: M242K

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000133851
Gene: ENSMUSG00000036591
AA Change: M242K

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: M81K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000133347
Gene: ENSMUSG00000036591
AA Change: M81K

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: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
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
Adam18 A G 8: 25,118,171 (GRCm39) S34P probably damaging Het
Adam23 T A 1: 63,612,288 (GRCm39) probably benign Het
Adcy10 A T 1: 165,345,781 (GRCm39) I277F probably damaging Het
Arfgef3 A T 10: 18,467,993 (GRCm39) S1736T possibly damaging Het
Arhgef18 T C 8: 3,437,680 (GRCm39) S268P possibly damaging Het
Astn1 A G 1: 158,484,876 (GRCm39) R4G probably benign Het
AU041133 G A 10: 81,986,755 (GRCm39) C135Y probably damaging Het
Cdc42bpb A G 12: 111,268,288 (GRCm39) V53A probably benign Het
Cdh23 T C 10: 60,301,783 (GRCm39) D428G possibly damaging Het
Cebpa T C 7: 34,819,891 (GRCm39) S350P probably damaging Het
Cftr A G 6: 18,214,279 (GRCm39) M152V probably null Het
Cpa4 A G 6: 30,583,649 (GRCm39) N255S possibly damaging Het
Ddx51 T A 5: 110,803,634 (GRCm39) D343E probably damaging Het
Dnah7a T C 1: 53,518,932 (GRCm39) I2942V probably benign Het
Dnajc1 G T 2: 18,397,286 (GRCm39) A9E probably damaging Het
Dpysl5 G A 5: 30,948,941 (GRCm39) D399N probably damaging Het
Edem3 A G 1: 151,680,453 (GRCm39) D526G possibly damaging Het
Emc10 G A 7: 44,142,616 (GRCm39) R109W probably damaging Het
Etaa1 G A 11: 17,902,686 (GRCm39) Q84* probably null Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam149a G A 8: 45,794,046 (GRCm39) T674I probably damaging Het
Fam98a A G 17: 75,845,940 (GRCm39) probably null Het
Fat4 A G 3: 38,945,676 (GRCm39) N1523S possibly damaging Het
Fbxw10 A G 11: 62,758,361 (GRCm39) T529A probably damaging Het
Gzf1 C T 2: 148,526,870 (GRCm39) A447V probably damaging Het
Hap1 G A 11: 100,245,550 (GRCm39) T138M probably benign Het
Hic1 T A 11: 75,060,210 (GRCm39) R46W possibly damaging Het
Id4 T A 13: 48,415,278 (GRCm39) L102Q probably damaging Het
Il3ra T C 14: 14,355,029 (GRCm38) C271R probably benign Het
Ints4 T C 7: 97,158,957 (GRCm39) I443T possibly damaging Het
Lmln A G 16: 32,930,148 (GRCm39) E535G probably benign Het
Lrrtm4 A G 6: 79,999,623 (GRCm39) H345R probably benign Het
Ltbp3 T C 19: 5,803,990 (GRCm39) I834T possibly damaging Het
Mnd1 C A 3: 84,041,416 (GRCm39) C62F probably benign Het
Ms4a18 C A 19: 10,974,669 (GRCm39) V341L probably benign Het
Nbr1 T C 11: 101,458,090 (GRCm39) probably null Het
Nf1 T C 11: 79,334,890 (GRCm39) M914T probably benign Het
Notch3 T A 17: 32,366,952 (GRCm39) H861L probably benign Het
Nup58 A G 14: 60,470,089 (GRCm39) F341L probably damaging Het
Ogfod2 C A 5: 124,250,843 (GRCm39) probably null Het
Oit3 T C 10: 59,263,892 (GRCm39) D414G probably damaging Het
Or6c5c A T 10: 129,298,809 (GRCm39) K88M probably damaging Het
Or6c6c A G 10: 129,541,320 (GRCm39) H191R probably benign Het
Or8k32 T C 2: 86,368,857 (GRCm39) Y132C probably damaging Het
Or9q2 T A 19: 13,772,733 (GRCm39) M81L probably benign Het
Pals1 A T 12: 78,844,022 (GRCm39) K75N possibly damaging Het
Pcbp4 C A 9: 106,337,933 (GRCm39) H74Q probably benign Het
Pip5k1b A T 19: 24,356,214 (GRCm39) D241E probably damaging Het
Plcb2 T C 2: 118,554,015 (GRCm39) D102G probably benign Het
Plekha5 G A 6: 140,471,587 (GRCm39) E4K possibly damaging Het
Ppargc1a A C 5: 51,631,601 (GRCm39) S343A possibly damaging Het
Ppwd1 G A 13: 104,343,650 (GRCm39) S585L probably benign Het
Rarg T C 15: 102,147,959 (GRCm39) N284S probably benign Het
Rnpepl1 C T 1: 92,844,102 (GRCm39) L278F probably damaging Het
Rp1 A C 1: 4,418,362 (GRCm39) S917A probably damaging Het
Rsf1 ATGGCG ATGGCGAGGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rsph3b T C 17: 7,209,139 (GRCm39) S189G probably benign Het
Sec31b A T 19: 44,511,589 (GRCm39) L604Q probably damaging Het
Sema6b T A 17: 56,431,741 (GRCm39) I641F probably benign Het
Slc35f5 A T 1: 125,507,001 (GRCm39) I309F possibly damaging Het
Smarca4 A G 9: 21,597,325 (GRCm39) E1360G probably damaging Het
Spata31d1c T C 13: 65,183,753 (GRCm39) S432P probably benign Het
Spsb3 T C 17: 25,109,911 (GRCm39) probably null Het
Sptbn4 T C 7: 27,067,034 (GRCm39) D1960G probably damaging Het
Srgap1 A G 10: 121,689,645 (GRCm39) V345A possibly damaging Het
Tiam2 C A 17: 3,465,193 (GRCm39) C307* probably null Het
Trim43b T A 9: 88,967,302 (GRCm39) T444S possibly damaging Het
Trmt13 A G 3: 116,388,403 (GRCm39) I11T probably benign Het
Ylpm1 A T 12: 85,091,152 (GRCm39) R1073* probably null Het
Zfp524 T C 7: 5,020,918 (GRCm39) S149P probably damaging Het
Zfp777 T C 6: 48,020,819 (GRCm39) I312V 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
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'- AGAGGCCTGCTCATTTACACC -3'
(R):5'- TTCTCAAGATGCATACCTGAAAGGC -3'

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