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 non essential (E-score: 0.443) question?
Stock # R2211 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 20847919-20968881 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20881640 bp (GRCm38)
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
A430078G23Rik T C 8: 3,387,680 (GRCm38) S268P possibly damaging Het
Adam18 A G 8: 24,628,155 (GRCm38) S34P probably damaging Het
Adam23 T A 1: 63,573,129 (GRCm38) probably benign Het
Adcy10 A T 1: 165,518,212 (GRCm38) I277F probably damaging Het
Arfgef3 A T 10: 18,592,245 (GRCm38) S1736T possibly damaging Het
Astn1 A G 1: 158,657,306 (GRCm38) R4G probably benign Het
AU041133 G A 10: 82,150,921 (GRCm38) C135Y probably damaging Het
Cdc42bpb A G 12: 111,301,854 (GRCm38) V53A probably benign Het
Cdh23 T C 10: 60,466,004 (GRCm38) D428G possibly damaging Het
Cebpa T C 7: 35,120,466 (GRCm38) S350P probably damaging Het
Cftr A G 6: 18,214,280 (GRCm38) M152V probably null Het
Cpa4 A G 6: 30,583,650 (GRCm38) N255S possibly damaging Het
Ddx51 T A 5: 110,655,768 (GRCm38) D343E probably damaging Het
Dnah7a T C 1: 53,479,773 (GRCm38) I2942V probably benign Het
Dnajc1 G T 2: 18,392,475 (GRCm38) A9E probably damaging Het
Dpysl5 G A 5: 30,791,597 (GRCm38) D399N probably damaging Het
Edem3 A G 1: 151,804,702 (GRCm38) D526G possibly damaging Het
Emc10 G A 7: 44,493,192 (GRCm38) R109W probably damaging Het
Etaa1 G A 11: 17,952,686 (GRCm38) Q84* probably null Het
Fabp3 C T 4: 130,312,387 (GRCm38) T57I probably benign Het
Fam149a G A 8: 45,341,009 (GRCm38) T674I probably damaging Het
Fam98a A G 17: 75,538,945 (GRCm38) probably null Het
Fat4 A G 3: 38,891,527 (GRCm38) N1523S possibly damaging Het
Fbxw10 A G 11: 62,867,535 (GRCm38) T529A probably damaging Het
Gzf1 C T 2: 148,684,950 (GRCm38) A447V probably damaging Het
Hap1 G A 11: 100,354,724 (GRCm38) T138M probably benign Het
Hic1 T A 11: 75,169,384 (GRCm38) R46W possibly damaging Het
Id4 T A 13: 48,261,802 (GRCm38) L102Q probably damaging Het
Il3ra T C 14: 14,355,029 (GRCm38) C271R probably benign Het
Ints4 T C 7: 97,509,750 (GRCm38) I443T possibly damaging Het
Lmln A G 16: 33,109,778 (GRCm38) E535G probably benign Het
Lrrtm4 A G 6: 80,022,640 (GRCm38) H345R probably benign Het
Ltbp3 T C 19: 5,753,962 (GRCm38) I834T possibly damaging Het
Mnd1 C A 3: 84,134,109 (GRCm38) C62F probably benign Het
Ms4a18 C A 19: 10,997,305 (GRCm38) V341L probably benign Het
Nbr1 T C 11: 101,567,264 (GRCm38) probably null Het
Nf1 T C 11: 79,444,064 (GRCm38) M914T probably benign Het
Notch3 T A 17: 32,147,978 (GRCm38) H861L probably benign Het
Nup58 A G 14: 60,232,640 (GRCm38) F341L probably damaging Het
Ogfod2 C A 5: 124,112,780 (GRCm38) probably null Het
Oit3 T C 10: 59,428,070 (GRCm38) D414G probably damaging Het
Or6c5c A T 10: 129,462,940 (GRCm38) K88M probably damaging Het
Or6c6c A G 10: 129,705,451 (GRCm38) H191R probably benign Het
Or8k32 T C 2: 86,538,513 (GRCm38) Y132C probably damaging Het
Or9q2 T A 19: 13,795,369 (GRCm38) M81L probably benign Het
Pals1 A T 12: 78,797,248 (GRCm38) K75N possibly damaging Het
Pcbp4 C A 9: 106,460,734 (GRCm38) H74Q probably benign Het
Pip5k1b A T 19: 24,378,850 (GRCm38) D241E probably damaging Het
Plcb2 T C 2: 118,723,534 (GRCm38) D102G probably benign Het
Plekha5 G A 6: 140,525,861 (GRCm38) E4K possibly damaging Het
Ppargc1a A C 5: 51,474,259 (GRCm38) S343A possibly damaging Het
Ppwd1 G A 13: 104,207,142 (GRCm38) S585L probably benign Het
Rarg T C 15: 102,239,524 (GRCm38) N284S probably benign Het
Rnpepl1 C T 1: 92,916,380 (GRCm38) L278F probably damaging Het
Rp1 A C 1: 4,348,139 (GRCm38) S917A probably damaging Het
Rsf1 ATGGCG ATGGCGAGGGTGGCG 7: 97,579,904 (GRCm38) probably benign Het
Rsph3b T C 17: 6,941,740 (GRCm38) S189G probably benign Het
Sec31b A T 19: 44,523,150 (GRCm38) L604Q probably damaging Het
Sema6b T A 17: 56,124,741 (GRCm38) I641F probably benign Het
Slc35f5 A T 1: 125,579,264 (GRCm38) I309F possibly damaging Het
Smarca4 A G 9: 21,686,029 (GRCm38) E1360G probably damaging Het
Spata31d1c T C 13: 65,035,939 (GRCm38) S432P probably benign Het
Spsb3 T C 17: 24,890,937 (GRCm38) probably null Het
Sptbn4 T C 7: 27,367,609 (GRCm38) D1960G probably damaging Het
Srgap1 A G 10: 121,853,740 (GRCm38) V345A possibly damaging Het
Tiam2 C A 17: 3,414,918 (GRCm38) C307* probably null Het
Trim43b T A 9: 89,085,249 (GRCm38) T444S possibly damaging Het
Trmt13 A G 3: 116,594,754 (GRCm38) I11T probably benign Het
Ylpm1 A T 12: 85,044,378 (GRCm38) R1073* probably null Het
Zfp524 T C 7: 5,017,919 (GRCm38) S149P probably damaging Het
Zfp777 T C 6: 48,043,885 (GRCm38) I312V possibly damaging Het
Other mutations in Arhgap21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01382:Arhgap21 APN 2 20,855,700 (GRCm38) missense probably damaging 1.00
IGL01472:Arhgap21 APN 2 20,849,581 (GRCm38) missense probably damaging 1.00
IGL01634:Arhgap21 APN 2 20,914,644 (GRCm38) missense probably benign 0.00
IGL01766:Arhgap21 APN 2 20,849,637 (GRCm38) missense possibly damaging 0.68
IGL02097:Arhgap21 APN 2 20,880,002 (GRCm38) missense probably benign 0.39
IGL02197:Arhgap21 APN 2 20,880,306 (GRCm38) missense probably benign
IGL02264:Arhgap21 APN 2 20,860,039 (GRCm38) splice site probably null
IGL02346:Arhgap21 APN 2 20,879,951 (GRCm38) splice site probably benign
IGL02418:Arhgap21 APN 2 20,880,900 (GRCm38) missense probably damaging 1.00
IGL02605:Arhgap21 APN 2 20,855,588 (GRCm38) missense probably damaging 1.00
IGL02701:Arhgap21 APN 2 20,892,091 (GRCm38) missense probably damaging 1.00
IGL03019:Arhgap21 APN 2 20,861,063 (GRCm38) missense probably damaging 1.00
IGL03085:Arhgap21 APN 2 20,914,721 (GRCm38) missense probably benign
IGL03265:Arhgap21 APN 2 20,849,628 (GRCm38) missense probably benign 0.03
IGL03379:Arhgap21 APN 2 20,880,689 (GRCm38) missense probably benign 0.41
R0304:Arhgap21 UTSW 2 20,859,801 (GRCm38) splice site probably benign
R0363:Arhgap21 UTSW 2 20,881,133 (GRCm38) missense probably damaging 1.00
R0498:Arhgap21 UTSW 2 20,863,117 (GRCm38) missense probably damaging 1.00
R0539:Arhgap21 UTSW 2 20,914,799 (GRCm38) nonsense probably null
R0633:Arhgap21 UTSW 2 20,855,387 (GRCm38) nonsense probably null
R0905:Arhgap21 UTSW 2 20,849,934 (GRCm38) missense possibly damaging 0.88
R1550:Arhgap21 UTSW 2 20,881,765 (GRCm38) nonsense probably null
R1570:Arhgap21 UTSW 2 20,880,840 (GRCm38) missense probably benign
R1686:Arhgap21 UTSW 2 20,881,848 (GRCm38) missense probably damaging 1.00
R1746:Arhgap21 UTSW 2 20,861,099 (GRCm38) missense probably damaging 0.99
R1864:Arhgap21 UTSW 2 20,861,204 (GRCm38) missense probably damaging 1.00
R1865:Arhgap21 UTSW 2 20,861,204 (GRCm38) missense probably damaging 1.00
R2209:Arhgap21 UTSW 2 20,849,520 (GRCm38) missense probably damaging 1.00
R2276:Arhgap21 UTSW 2 20,863,226 (GRCm38) missense possibly damaging 0.94
R2277:Arhgap21 UTSW 2 20,863,226 (GRCm38) missense possibly damaging 0.94
R2279:Arhgap21 UTSW 2 20,863,226 (GRCm38) missense possibly damaging 0.94
R2336:Arhgap21 UTSW 2 20,880,051 (GRCm38) missense probably damaging 1.00
R2516:Arhgap21 UTSW 2 20,854,998 (GRCm38) missense probably damaging 1.00
R3722:Arhgap21 UTSW 2 20,850,291 (GRCm38) missense probably damaging 1.00
R3877:Arhgap21 UTSW 2 20,859,906 (GRCm38) missense probably damaging 0.99
R4017:Arhgap21 UTSW 2 20,892,104 (GRCm38) missense probably benign 0.10
R4232:Arhgap21 UTSW 2 20,887,137 (GRCm38) missense probably damaging 1.00
R4233:Arhgap21 UTSW 2 20,887,137 (GRCm38) missense probably damaging 1.00
R4234:Arhgap21 UTSW 2 20,887,137 (GRCm38) missense probably damaging 1.00
R4235:Arhgap21 UTSW 2 20,887,137 (GRCm38) missense probably damaging 1.00
R4236:Arhgap21 UTSW 2 20,887,137 (GRCm38) missense probably damaging 1.00
R4434:Arhgap21 UTSW 2 20,967,335 (GRCm38) missense probably benign
R4686:Arhgap21 UTSW 2 20,863,222 (GRCm38) missense probably damaging 1.00
R4817:Arhgap21 UTSW 2 20,850,156 (GRCm38) missense probably benign
R4834:Arhgap21 UTSW 2 20,865,319 (GRCm38) missense probably damaging 1.00
R4845:Arhgap21 UTSW 2 20,881,187 (GRCm38) missense probably damaging 0.99
R4889:Arhgap21 UTSW 2 20,880,468 (GRCm38) missense probably benign 0.10
R4904:Arhgap21 UTSW 2 20,850,061 (GRCm38) missense probably benign 0.00
R4911:Arhgap21 UTSW 2 20,858,989 (GRCm38) missense probably damaging 1.00
R4994:Arhgap21 UTSW 2 20,849,890 (GRCm38) missense probably benign 0.00
R5067:Arhgap21 UTSW 2 20,880,037 (GRCm38) missense probably damaging 1.00
R5086:Arhgap21 UTSW 2 20,848,834 (GRCm38) missense probably benign 0.00
R5281:Arhgap21 UTSW 2 20,849,316 (GRCm38) missense probably damaging 1.00
R5364:Arhgap21 UTSW 2 20,849,722 (GRCm38) missense probably damaging 1.00
R5420:Arhgap21 UTSW 2 20,881,086 (GRCm38) missense probably damaging 0.99
R5476:Arhgap21 UTSW 2 20,880,686 (GRCm38) missense probably benign 0.06
R5831:Arhgap21 UTSW 2 20,863,213 (GRCm38) missense probably damaging 1.00
R5949:Arhgap21 UTSW 2 20,849,041 (GRCm38) missense probably damaging 0.97
R5994:Arhgap21 UTSW 2 20,881,376 (GRCm38) missense possibly damaging 0.78
R6014:Arhgap21 UTSW 2 20,881,805 (GRCm38) missense probably damaging 1.00
R6739:Arhgap21 UTSW 2 20,880,732 (GRCm38) missense possibly damaging 0.94
R6817:Arhgap21 UTSW 2 20,880,296 (GRCm38) missense probably benign 0.23
R6821:Arhgap21 UTSW 2 20,848,848 (GRCm38) missense probably benign
R6844:Arhgap21 UTSW 2 20,881,305 (GRCm38) missense probably benign 0.00
R6870:Arhgap21 UTSW 2 20,880,510 (GRCm38) missense probably damaging 1.00
R6891:Arhgap21 UTSW 2 20,850,331 (GRCm38) missense probably damaging 0.97
R7011:Arhgap21 UTSW 2 20,848,878 (GRCm38) missense possibly damaging 0.65
R7144:Arhgap21 UTSW 2 20,865,387 (GRCm38) missense probably benign
R7237:Arhgap21 UTSW 2 20,849,972 (GRCm38) nonsense probably null
R7261:Arhgap21 UTSW 2 20,880,366 (GRCm38) missense probably benign
R7558:Arhgap21 UTSW 2 20,855,610 (GRCm38) missense probably damaging 1.00
R7566:Arhgap21 UTSW 2 20,912,291 (GRCm38) missense probably benign 0.17
R7738:Arhgap21 UTSW 2 20,850,358 (GRCm38) missense probably damaging 1.00
R7738:Arhgap21 UTSW 2 20,849,479 (GRCm38) missense probably damaging 1.00
R7820:Arhgap21 UTSW 2 20,863,172 (GRCm38) missense probably damaging 1.00
R7822:Arhgap21 UTSW 2 20,880,713 (GRCm38) missense possibly damaging 0.80
R7965:Arhgap21 UTSW 2 20,849,196 (GRCm38) missense probably damaging 1.00
R7986:Arhgap21 UTSW 2 20,863,156 (GRCm38) missense probably damaging 1.00
R8028:Arhgap21 UTSW 2 20,880,405 (GRCm38) missense probably benign 0.02
R8209:Arhgap21 UTSW 2 20,871,745 (GRCm38) missense probably damaging 1.00
R8226:Arhgap21 UTSW 2 20,871,745 (GRCm38) missense probably damaging 1.00
R8251:Arhgap21 UTSW 2 20,849,410 (GRCm38) missense probably benign
R8486:Arhgap21 UTSW 2 20,860,425 (GRCm38) missense probably damaging 1.00
R8487:Arhgap21 UTSW 2 20,881,305 (GRCm38) missense probably benign 0.08
R8508:Arhgap21 UTSW 2 20,854,180 (GRCm38) missense probably benign 0.17
R8835:Arhgap21 UTSW 2 20,967,333 (GRCm38) nonsense probably null
R9140:Arhgap21 UTSW 2 20,881,214 (GRCm38) missense probably damaging 1.00
R9190:Arhgap21 UTSW 2 20,854,172 (GRCm38) missense probably null 0.04
R9204:Arhgap21 UTSW 2 20,881,005 (GRCm38) missense probably damaging 1.00
R9227:Arhgap21 UTSW 2 20,855,658 (GRCm38) missense possibly damaging 0.92
R9230:Arhgap21 UTSW 2 20,855,658 (GRCm38) missense possibly damaging 0.92
R9308:Arhgap21 UTSW 2 20,849,250 (GRCm38) missense probably damaging 0.99
R9374:Arhgap21 UTSW 2 20,881,586 (GRCm38) missense probably damaging 1.00
R9449:Arhgap21 UTSW 2 20,880,653 (GRCm38) missense probably benign
R9454:Arhgap21 UTSW 2 20,865,342 (GRCm38) missense probably damaging 0.99
R9499:Arhgap21 UTSW 2 20,881,586 (GRCm38) missense probably damaging 1.00
R9544:Arhgap21 UTSW 2 20,854,127 (GRCm38) missense possibly damaging 0.73
R9552:Arhgap21 UTSW 2 20,881,586 (GRCm38) missense probably damaging 1.00
R9567:Arhgap21 UTSW 2 20,892,142 (GRCm38) missense possibly damaging 0.94
R9588:Arhgap21 UTSW 2 20,854,127 (GRCm38) missense possibly damaging 0.73
R9749:Arhgap21 UTSW 2 20,849,215 (GRCm38) missense probably benign 0.00
Z1191:Arhgap21 UTSW 2 20,881,472 (GRCm38) 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