Incidental Mutation 'R5930:Arhgap26'
ID 460223
Institutional Source Beutler Lab
Gene Symbol Arhgap26
Ensembl Gene ENSMUSG00000036452
Gene Name Rho GTPase activating protein 26
Synonyms 4933432P15Rik, 2610010G17Rik, 1810044B20Rik
MMRRC Submission 044125-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5930 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 38734531-39509338 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39283145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 361 (M361V)
Ref Sequence ENSEMBL: ENSMUSP00000095200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097593] [ENSMUST00000155576]
AlphaFold Q6ZQ82
Predicted Effect probably damaging
Transcript: ENSMUST00000097593
AA Change: M361V

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095200
Gene: ENSMUSG00000036452
AA Change: M361V

DomainStartEndE-ValueType
Pfam:BAR_3 6 249 1.8e-90 PFAM
Pfam:IMD 26 231 2.8e-9 PFAM
PH 266 371 3.23e-8 SMART
RhoGAP 387 565 4.51e-65 SMART
low complexity region 584 600 N/A INTRINSIC
low complexity region 617 652 N/A INTRINSIC
low complexity region 657 701 N/A INTRINSIC
SH3 759 814 5.11e-14 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000155576
AA Change: M361V

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000122371
Gene: ENSMUSG00000036452
AA Change: M361V

DomainStartEndE-ValueType
Pfam:IMD 27 232 1.2e-8 PFAM
PH 266 371 3.23e-8 SMART
RhoGAP 387 565 4.51e-65 SMART
low complexity region 584 600 N/A INTRINSIC
low complexity region 617 652 N/A INTRINSIC
low complexity region 657 702 N/A INTRINSIC
SH3 704 759 5.11e-14 SMART
Meta Mutation Damage Score 0.2540 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 94% (102/109)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]
PHENOTYPE: Mice homozygous for a hypomorphic allele display reduced myofiber size, impaired myoblast fusion and abnormal muscle regeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C T 13: 81,545,570 (GRCm39) V5572I probably benign Het
Agap1 C T 1: 89,770,818 (GRCm39) T656I probably damaging Het
Als2cl C T 9: 110,716,432 (GRCm39) R247W probably damaging Het
Ankfy1 A T 11: 72,603,071 (GRCm39) R33S probably benign Het
Ano5 T C 7: 51,235,079 (GRCm39) F671L probably damaging Het
Bckdk A G 7: 127,505,145 (GRCm39) E175G probably damaging Het
Bptf G T 11: 106,964,022 (GRCm39) T1724K probably damaging Het
Btn2a2 T A 13: 23,670,398 (GRCm39) I112F probably damaging Het
Cln8 T A 8: 14,946,621 (GRCm39) W212R probably damaging Het
Cnbd1 T C 4: 18,886,119 (GRCm39) E300G probably benign Het
Cnksr3 T C 10: 7,092,993 (GRCm39) I173V probably benign Het
Cntn2 T A 1: 132,451,170 (GRCm39) D484V probably damaging Het
Cyp4a14 C A 4: 115,348,607 (GRCm39) G319V probably damaging Het
Cyp4f37 G A 17: 32,848,957 (GRCm39) R275Q possibly damaging Het
Def8 C T 8: 124,186,809 (GRCm39) probably benign Het
Dnaaf4 T C 9: 72,879,280 (GRCm39) V356A probably damaging Het
Dnah10 T C 5: 124,868,855 (GRCm39) probably null Het
Dock6 A G 9: 21,735,712 (GRCm39) V1012A probably benign Het
Dus3l T A 17: 57,076,579 (GRCm39) N586K probably damaging Het
Dyrk2 T A 10: 118,696,173 (GRCm39) I362F probably damaging Het
Eeig2 A T 3: 108,887,468 (GRCm39) S265R probably benign Het
Erc2 T A 14: 27,498,815 (GRCm39) D230E probably damaging Het
Fat1 A G 8: 45,497,073 (GRCm39) H4186R probably benign Het
Fbxo44 A G 4: 148,241,052 (GRCm39) F179S probably damaging Het
Fech A G 18: 64,611,720 (GRCm39) probably null Het
Fer1l5 T A 1: 36,424,254 (GRCm39) C289* probably null Het
Fhl5 T A 4: 25,214,756 (GRCm39) D7V probably benign Het
Flvcr1 G T 1: 190,741,748 (GRCm39) T514K probably damaging Het
Fmo1 A T 1: 162,667,185 (GRCm39) probably null Het
Gabra6 G A 11: 42,198,268 (GRCm39) T384M probably benign Het
Gli3 A G 13: 15,723,210 (GRCm39) Y117C probably damaging Het
Gnao1 A G 8: 94,622,873 (GRCm39) D59G probably benign Het
Gria2 T C 3: 80,614,556 (GRCm39) I495V possibly damaging Het
Hnf1b C A 11: 83,754,811 (GRCm39) H161Q probably benign Het
Itga8 T A 2: 12,235,019 (GRCm39) D413V possibly damaging Het
Itpr3 A T 17: 27,329,895 (GRCm39) Q1563L possibly damaging Het
Kctd16 A G 18: 40,663,882 (GRCm39) N337S probably benign Het
Klra4 C T 6: 130,030,016 (GRCm39) V190M possibly damaging Het
Krtap4-9 T A 11: 99,676,462 (GRCm39) probably benign Het
L3mbtl1 GGCCG GG 2: 162,809,256 (GRCm39) probably benign Het
Mchr1 T C 15: 81,122,044 (GRCm39) F265L probably damaging Het
Megf8 T A 7: 25,025,866 (GRCm39) Y83* probably null Het
Mettl18 A G 1: 163,824,746 (GRCm39) M356V probably null Het
Mrm1 G A 11: 84,710,018 (GRCm39) R61W probably damaging Het
Muc4 A T 16: 32,570,523 (GRCm39) T528S probably benign Het
Myef2 A T 2: 124,937,651 (GRCm39) L530* probably null Het
Nhlrc4 T C 17: 26,162,693 (GRCm39) E18G probably benign Het
Nisch C T 14: 30,895,102 (GRCm39) V1065I probably benign Het
Nlgn2 C T 11: 69,724,975 (GRCm39) R97H probably damaging Het
Nos2 T C 11: 78,828,741 (GRCm39) L321S probably damaging Het
Oaz3 T C 3: 94,343,717 (GRCm39) M49V possibly damaging Het
Olfm5 A G 7: 103,803,362 (GRCm39) V367A probably damaging Het
Omd C T 13: 49,743,112 (GRCm39) P54L possibly damaging Het
Or10ak12 C T 4: 118,666,575 (GRCm39) R162H probably benign Het
Or11g26 C A 14: 50,753,249 (GRCm39) A196D probably benign Het
Or2g7 C A 17: 38,378,641 (GRCm39) A193D probably benign Het
Or51f23 A T 7: 102,453,481 (GRCm39) R265S probably damaging Het
Or7d10 A G 9: 19,832,206 (GRCm39) K234E probably damaging Het
Pard3b T A 1: 61,807,289 (GRCm39) probably benign Het
Pcdhb18 A C 18: 37,624,988 (GRCm39) I773L possibly damaging Het
Pde11a T C 2: 75,970,175 (GRCm39) probably null Het
Pfkfb4 A C 9: 108,859,462 (GRCm39) probably benign Het
Phb2 T G 6: 124,692,612 (GRCm39) I260S probably damaging Het
Pkd1l1 G A 11: 8,908,969 (GRCm39) T345I unknown Het
Pla2g6 T C 15: 79,187,728 (GRCm39) probably benign Het
Pou4f2 G A 8: 79,163,020 (GRCm39) S5F unknown Het
Ppp1r9a A T 6: 5,157,002 (GRCm39) probably null Het
Pramel5 A G 4: 143,999,553 (GRCm39) I178T probably benign Het
Prom2 C T 2: 127,372,053 (GRCm39) W745* probably null Het
Pros1 T A 16: 62,748,424 (GRCm39) N632K probably damaging Het
Rab4b A G 7: 26,873,927 (GRCm39) I117T probably benign Het
Rbm25 T A 12: 83,724,640 (GRCm39) H796Q possibly damaging Het
Rnf151 A T 17: 24,937,004 (GRCm39) probably null Het
Rps6ka1 A T 4: 133,598,882 (GRCm39) L97I probably damaging Het
Scart1 C T 7: 139,810,359 (GRCm39) P984S probably benign Het
Semp2l2a T A 8: 13,887,263 (GRCm39) D276V probably benign Het
Sergef T A 7: 46,092,888 (GRCm39) T374S probably benign Het
Sh3rf3 G T 10: 58,966,808 (GRCm39) G717C probably damaging Het
Slc29a4 C T 5: 142,707,157 (GRCm39) T500I possibly damaging Het
Smc1b T A 15: 84,970,322 (GRCm39) D977V probably damaging Het
Spata31d1d C T 13: 59,874,829 (GRCm39) C902Y probably benign Het
St14 A T 9: 31,015,056 (GRCm39) V314D probably damaging Het
Stat3 A T 11: 100,784,496 (GRCm39) I602N possibly damaging Het
Stx4a T A 7: 127,445,661 (GRCm39) I189N probably damaging Het
Tacc1 A G 8: 25,672,215 (GRCm39) S338P probably benign Het
Tcirg1 T A 19: 3,952,424 (GRCm39) T315S possibly damaging Het
Tenm4 A T 7: 96,503,926 (GRCm39) N1295I probably damaging Het
Tm7sf3 T C 6: 146,505,409 (GRCm39) K516E possibly damaging Het
Tmem198b T C 10: 128,637,323 (GRCm39) E272G possibly damaging Het
Tnip3 A G 6: 65,582,937 (GRCm39) Q237R probably damaging Het
Trim15 C T 17: 37,173,252 (GRCm39) probably null Het
Trim30a T A 7: 104,070,657 (GRCm39) N252I possibly damaging Het
Ttc39a A G 4: 109,288,075 (GRCm39) E227G probably benign Het
Ttll13 A G 7: 79,902,914 (GRCm39) E194G probably damaging Het
Upf1 G A 8: 70,796,912 (GRCm39) T107I probably benign Het
Vac14 A G 8: 111,436,981 (GRCm39) I565V probably damaging Het
Zcchc14 A T 8: 122,338,097 (GRCm39) probably benign Het
Other mutations in Arhgap26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00706:Arhgap26 APN 18 39,419,604 (GRCm39) missense probably damaging 1.00
IGL01116:Arhgap26 APN 18 39,244,856 (GRCm39) missense probably damaging 0.97
IGL01409:Arhgap26 APN 18 39,243,504 (GRCm39) splice site probably benign
IGL02316:Arhgap26 APN 18 38,775,599 (GRCm39) exon noncoding transcript
IGL02418:Arhgap26 APN 18 39,490,620 (GRCm39) intron probably benign
IGL02588:Arhgap26 APN 18 38,734,670 (GRCm39) unclassified probably benign
IGL03241:Arhgap26 APN 18 39,362,970 (GRCm39) missense probably damaging 1.00
R0184:Arhgap26 UTSW 18 38,750,726 (GRCm39) missense unknown
R0244:Arhgap26 UTSW 18 39,496,184 (GRCm39) missense probably benign 0.05
R0347:Arhgap26 UTSW 18 38,750,797 (GRCm39) missense unknown
R1533:Arhgap26 UTSW 18 39,504,130 (GRCm39) missense probably benign 0.16
R1606:Arhgap26 UTSW 18 39,429,925 (GRCm39) missense probably damaging 1.00
R2066:Arhgap26 UTSW 18 39,439,781 (GRCm39) missense probably damaging 1.00
R2182:Arhgap26 UTSW 18 39,490,862 (GRCm39) intron probably benign
R2291:Arhgap26 UTSW 18 39,490,751 (GRCm39) intron probably benign
R3611:Arhgap26 UTSW 18 39,066,972 (GRCm39) missense probably benign
R3700:Arhgap26 UTSW 18 39,253,237 (GRCm39) missense probably damaging 0.99
R3887:Arhgap26 UTSW 18 39,363,019 (GRCm39) critical splice donor site probably null
R4621:Arhgap26 UTSW 18 39,032,894 (GRCm39) intron probably benign
R4877:Arhgap26 UTSW 18 39,429,982 (GRCm39) splice site probably null
R4910:Arhgap26 UTSW 18 39,126,690 (GRCm39) splice site probably benign
R4911:Arhgap26 UTSW 18 39,126,690 (GRCm39) splice site probably benign
R4954:Arhgap26 UTSW 18 39,376,694 (GRCm39) missense probably benign 0.00
R4967:Arhgap26 UTSW 18 39,379,893 (GRCm39) missense probably damaging 1.00
R5221:Arhgap26 UTSW 18 39,243,525 (GRCm39) nonsense probably null
R5232:Arhgap26 UTSW 18 39,126,529 (GRCm39) start codon destroyed probably null 0.97
R5297:Arhgap26 UTSW 18 39,254,941 (GRCm39) missense probably damaging 1.00
R5372:Arhgap26 UTSW 18 38,775,509 (GRCm39) exon noncoding transcript
R5570:Arhgap26 UTSW 18 39,232,671 (GRCm39) missense probably damaging 0.99
R5692:Arhgap26 UTSW 18 39,254,945 (GRCm39) missense probably damaging 1.00
R5752:Arhgap26 UTSW 18 39,419,725 (GRCm39) missense probably damaging 1.00
R6131:Arhgap26 UTSW 18 39,419,638 (GRCm39) nonsense probably null
R6251:Arhgap26 UTSW 18 39,490,880 (GRCm39) missense probably null
R6481:Arhgap26 UTSW 18 39,283,110 (GRCm39) missense probably damaging 1.00
R6622:Arhgap26 UTSW 18 39,032,916 (GRCm39) intron probably benign
R6799:Arhgap26 UTSW 18 39,232,660 (GRCm39) missense probably damaging 1.00
R6878:Arhgap26 UTSW 18 39,360,465 (GRCm39) missense probably damaging 1.00
R6989:Arhgap26 UTSW 18 39,232,682 (GRCm39) missense probably damaging 1.00
R7248:Arhgap26 UTSW 18 39,439,907 (GRCm39) critical splice donor site probably null
R7936:Arhgap26 UTSW 18 39,338,340 (GRCm39) missense probably damaging 1.00
R7960:Arhgap26 UTSW 18 39,362,980 (GRCm39) missense
R8103:Arhgap26 UTSW 18 39,504,177 (GRCm39) missense
R8206:Arhgap26 UTSW 18 39,439,803 (GRCm39) nonsense probably null
R8356:Arhgap26 UTSW 18 39,244,901 (GRCm39) missense possibly damaging 0.89
R8456:Arhgap26 UTSW 18 39,244,901 (GRCm39) missense possibly damaging 0.89
R8987:Arhgap26 UTSW 18 39,490,652 (GRCm39) missense
R9025:Arhgap26 UTSW 18 39,379,898 (GRCm39) missense
R9149:Arhgap26 UTSW 18 39,244,917 (GRCm39) missense possibly damaging 0.94
R9172:Arhgap26 UTSW 18 39,378,382 (GRCm39) missense probably damaging 1.00
R9191:Arhgap26 UTSW 18 39,439,893 (GRCm39) missense
R9576:Arhgap26 UTSW 18 39,253,207 (GRCm39) nonsense probably null
X0013:Arhgap26 UTSW 18 39,504,165 (GRCm39) missense probably damaging 1.00
X0025:Arhgap26 UTSW 18 39,283,158 (GRCm39) missense probably damaging 1.00
Z1088:Arhgap26 UTSW 18 39,490,724 (GRCm39) splice site probably benign
Predicted Primers PCR Primer
(F):5'- AGCATTCTCTCCCACTGATAAC -3'
(R):5'- TTAGGAGCCAAGGCCAAAAC -3'

Sequencing Primer
(F):5'- TCCCACTGATAACTGGATATGTC -3'
(R):5'- CGGGAGCTACATCTACACAG -3'
Posted On 2017-02-28