Incidental Mutation 'R0184:Arhgap26'
ID 24007
Institutional Source Beutler Lab
Gene Symbol Arhgap26
Ensembl Gene ENSMUSG00000036452
Gene Name Rho GTPase activating protein 26
Synonyms 2610010G17Rik, 1810044B20Rik, 4933432P15Rik
MMRRC Submission 038449-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0184 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 18
Chromosomal Location 38601534-39376284 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38617673 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 46 (D46E)
Gene Model predicted gene model for transcript(s):
AlphaFold Q6ZQ82
Predicted Effect unknown
Transcript: ENSMUST00000097595
AA Change: D46E
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127448
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145090
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.6%
  • 20x: 93.9%
Validation Efficiency 66% (50/76)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C A 3: 124,419,250 (GRCm38) V131F probably damaging Het
Adam28 T C 14: 68,637,373 (GRCm38) D285G probably benign Het
Akr1c13 A G 13: 4,194,056 (GRCm38) E36G probably damaging Het
Antxr2 A G 5: 97,980,030 (GRCm38) L214S probably damaging Het
Armc9 T C 1: 86,198,370 (GRCm38) L61P probably damaging Het
Bicc1 C A 10: 71,079,215 (GRCm38) R73L probably benign Het
Calm2 T C 17: 87,435,841 (GRCm38) N43S probably benign Het
Cct7 A G 6: 85,461,554 (GRCm38) D105G probably null Het
Cdk18 T C 1: 132,118,538 (GRCm38) N215D probably benign Het
Cep126 T C 9: 8,103,395 (GRCm38) T205A probably benign Het
Cfap57 A T 4: 118,599,012 (GRCm38) I495N probably damaging Het
Cyp2b9 T A 7: 26,187,007 (GRCm38) C152* probably null Het
Dab2ip G A 2: 35,718,791 (GRCm38) R579H probably damaging Het
Dnah8 T C 17: 30,683,683 (GRCm38) V905A probably benign Het
Eif4h C A 5: 134,625,375 (GRCm38) D134Y possibly damaging Het
Espl1 T A 15: 102,299,216 (GRCm38) S372T probably benign Het
Fat2 T A 11: 55,296,288 (GRCm38) H1244L probably damaging Het
Fbxo11 T A 17: 88,008,673 (GRCm38) N443I probably benign Het
Git2 G A 5: 114,739,037 (GRCm38) T128M possibly damaging Het
Gm10985 T A 3: 53,845,258 (GRCm38) Y21N probably damaging Het
Gm12790 A T 4: 101,967,614 (GRCm38) Y152* probably null Het
Heatr5a T C 12: 51,909,969 (GRCm38) D1115G probably benign Het
Hipk2 T C 6: 38,718,931 (GRCm38) N726S possibly damaging Het
Hrg T C 16: 22,953,771 (GRCm38) probably null Het
Iars T G 13: 49,722,212 (GRCm38) S792A probably benign Het
Igf1r A G 7: 68,226,193 (GRCm38) N1301S possibly damaging Het
Il22 A T 10: 118,205,606 (GRCm38) I75F probably damaging Het
Ilkap T C 1: 91,376,305 (GRCm38) probably benign Het
Ints13 A T 6: 146,555,044 (GRCm38) Y435N probably benign Het
Ints8 A C 4: 11,218,637 (GRCm38) S797A probably benign Het
Itgad T A 7: 128,189,231 (GRCm38) D405E probably benign Het
Itgam A T 7: 128,086,058 (GRCm38) I448F probably damaging Het
Klk1 C T 7: 44,228,749 (GRCm38) T41I possibly damaging Het
Mcrip1 T C 11: 120,544,884 (GRCm38) M1V probably null Het
Mdga1 A G 17: 29,852,442 (GRCm38) Y128H probably damaging Het
Mtor G T 4: 148,464,971 (GRCm38) R604L probably benign Het
Olfr1170 A T 2: 88,224,780 (GRCm38) L84* probably null Het
Olfr656 T C 7: 104,618,240 (GRCm38) V187A probably damaging Het
Pcdhb7 T A 18: 37,343,390 (GRCm38) D526E probably benign Het
Pip4k2a T C 2: 18,889,128 (GRCm38) D139G probably damaging Het
Pkp3 A C 7: 141,088,367 (GRCm38) N536T probably benign Het
Pla2g4c T A 7: 13,356,220 (GRCm38) S524T probably benign Het
Pno1 T C 11: 17,211,127 (GRCm38) E69G probably benign Het
Pold1 C T 7: 44,541,715 (GRCm38) V231M probably benign Het
Poli A G 18: 70,522,731 (GRCm38) S248P probably damaging Het
Ppox C T 1: 171,279,552 (GRCm38) S138N probably damaging Het
Psg20 T C 7: 18,685,976 (GRCm38) E6G probably null Het
Rbmx C T X: 57,391,566 (GRCm38) probably null Het
Rln1 T A 19: 29,331,936 (GRCm38) K148* probably null Het
Rnf213 C T 11: 119,414,521 (GRCm38) T526I probably damaging Het
Rps6kc1 A T 1: 190,799,093 (GRCm38) V904E probably null Het
Sf3b2 T A 19: 5,283,672 (GRCm38) I633F probably damaging Het
Sfswap T A 5: 129,507,189 (GRCm38) I189N probably damaging Het
Smarca2 T A 19: 26,692,249 (GRCm38) Y973* probably null Het
Spink5 G A 18: 44,003,198 (GRCm38) D559N probably benign Het
Spty2d1 C T 7: 46,997,574 (GRCm38) V536I possibly damaging Het
Tbx3 T C 5: 119,675,562 (GRCm38) I221T probably damaging Het
Tcf20 T A 15: 82,852,300 (GRCm38) D1650V probably damaging Het
Thsd7b A G 1: 129,430,964 (GRCm38) K45R probably benign Het
Tirap A G 9: 35,189,194 (GRCm38) S65P probably benign Het
Trim25 C T 11: 88,999,640 (GRCm38) P51L probably damaging Het
Trim61 T C 8: 65,014,417 (GRCm38) N64S probably benign Het
Twf1 T A 15: 94,581,067 (GRCm38) probably null Het
Ubr4 A C 4: 139,445,262 (GRCm38) T1692P probably damaging Het
Usp3 A G 9: 66,562,581 (GRCm38) M86T probably damaging Het
Utrn T C 10: 12,667,618 (GRCm38) D1762G probably benign Het
V1rd19 T A 7: 24,003,207 (GRCm38) F33I probably benign Het
Vmn2r52 T C 7: 10,159,338 (GRCm38) S625G probably damaging Het
Vmn2r90 G A 17: 17,726,877 (GRCm38) W472* probably null Het
Vrk2 C A 11: 26,550,046 (GRCm38) A56S probably damaging Het
Yeats2 C T 16: 20,203,685 (GRCm38) P620S possibly damaging Het
Zbtb21 C T 16: 97,950,513 (GRCm38) D171N probably damaging Het
Zeb1 A T 18: 5,766,808 (GRCm38) I440F probably damaging Het
Zfp292 A G 4: 34,819,563 (GRCm38) I253T probably damaging Het
Other mutations in Arhgap26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00706:Arhgap26 APN 18 39,286,551 (GRCm38) missense probably damaging 1.00
IGL01116:Arhgap26 APN 18 39,111,803 (GRCm38) missense probably damaging 0.97
IGL01409:Arhgap26 APN 18 39,110,451 (GRCm38) splice site probably benign
IGL02316:Arhgap26 APN 18 38,642,546 (GRCm38) exon noncoding transcript
IGL02418:Arhgap26 APN 18 39,357,567 (GRCm38) intron probably benign
IGL02588:Arhgap26 APN 18 38,601,617 (GRCm38) unclassified probably benign
IGL03241:Arhgap26 APN 18 39,229,917 (GRCm38) missense probably damaging 1.00
R0244:Arhgap26 UTSW 18 39,363,131 (GRCm38) missense probably benign 0.05
R0347:Arhgap26 UTSW 18 38,617,744 (GRCm38) missense unknown
R1533:Arhgap26 UTSW 18 39,371,077 (GRCm38) missense probably benign 0.16
R1606:Arhgap26 UTSW 18 39,296,872 (GRCm38) missense probably damaging 1.00
R2066:Arhgap26 UTSW 18 39,306,728 (GRCm38) missense probably damaging 1.00
R2182:Arhgap26 UTSW 18 39,357,809 (GRCm38) intron probably benign
R2291:Arhgap26 UTSW 18 39,357,698 (GRCm38) intron probably benign
R3611:Arhgap26 UTSW 18 38,933,919 (GRCm38) missense probably benign
R3700:Arhgap26 UTSW 18 39,120,184 (GRCm38) missense probably damaging 0.99
R3887:Arhgap26 UTSW 18 39,229,966 (GRCm38) critical splice donor site probably null
R4621:Arhgap26 UTSW 18 38,899,841 (GRCm38) intron probably benign
R4877:Arhgap26 UTSW 18 39,296,929 (GRCm38) splice site probably null
R4910:Arhgap26 UTSW 18 38,993,637 (GRCm38) splice site probably benign
R4911:Arhgap26 UTSW 18 38,993,637 (GRCm38) splice site probably benign
R4954:Arhgap26 UTSW 18 39,243,641 (GRCm38) missense probably benign 0.00
R4967:Arhgap26 UTSW 18 39,246,840 (GRCm38) missense probably damaging 1.00
R5221:Arhgap26 UTSW 18 39,110,472 (GRCm38) nonsense probably null
R5232:Arhgap26 UTSW 18 38,993,476 (GRCm38) start codon destroyed probably null 0.97
R5297:Arhgap26 UTSW 18 39,121,888 (GRCm38) missense probably damaging 1.00
R5372:Arhgap26 UTSW 18 38,642,456 (GRCm38) exon noncoding transcript
R5570:Arhgap26 UTSW 18 39,099,618 (GRCm38) missense probably damaging 0.99
R5692:Arhgap26 UTSW 18 39,121,892 (GRCm38) missense probably damaging 1.00
R5752:Arhgap26 UTSW 18 39,286,672 (GRCm38) missense probably damaging 1.00
R5930:Arhgap26 UTSW 18 39,150,092 (GRCm38) missense probably damaging 0.96
R6131:Arhgap26 UTSW 18 39,286,585 (GRCm38) nonsense probably null
R6251:Arhgap26 UTSW 18 39,357,827 (GRCm38) missense probably null
R6481:Arhgap26 UTSW 18 39,150,057 (GRCm38) missense probably damaging 1.00
R6622:Arhgap26 UTSW 18 38,899,863 (GRCm38) intron probably benign
R6799:Arhgap26 UTSW 18 39,099,607 (GRCm38) missense probably damaging 1.00
R6878:Arhgap26 UTSW 18 39,227,412 (GRCm38) missense probably damaging 1.00
R6989:Arhgap26 UTSW 18 39,099,629 (GRCm38) missense probably damaging 1.00
R7248:Arhgap26 UTSW 18 39,306,854 (GRCm38) critical splice donor site probably null
R7936:Arhgap26 UTSW 18 39,205,287 (GRCm38) missense probably damaging 1.00
R7960:Arhgap26 UTSW 18 39,229,927 (GRCm38) missense
R8103:Arhgap26 UTSW 18 39,371,124 (GRCm38) missense
R8206:Arhgap26 UTSW 18 39,306,750 (GRCm38) nonsense probably null
R8356:Arhgap26 UTSW 18 39,111,848 (GRCm38) missense possibly damaging 0.89
R8456:Arhgap26 UTSW 18 39,111,848 (GRCm38) missense possibly damaging 0.89
R8987:Arhgap26 UTSW 18 39,357,599 (GRCm38) missense
R9025:Arhgap26 UTSW 18 39,246,845 (GRCm38) missense
R9149:Arhgap26 UTSW 18 39,111,864 (GRCm38) missense possibly damaging 0.94
R9172:Arhgap26 UTSW 18 39,245,329 (GRCm38) missense probably damaging 1.00
R9191:Arhgap26 UTSW 18 39,306,840 (GRCm38) missense
R9576:Arhgap26 UTSW 18 39,120,154 (GRCm38) nonsense probably null
X0013:Arhgap26 UTSW 18 39,371,112 (GRCm38) missense probably damaging 1.00
X0025:Arhgap26 UTSW 18 39,150,105 (GRCm38) missense probably damaging 1.00
Z1088:Arhgap26 UTSW 18 39,357,671 (GRCm38) splice site probably benign
Predicted Primers PCR Primer
(F):5'- CGCAAAGTATCACAGTCCTGCTTCC -3'
(R):5'- AATGCATCCACTGACTTACTCACCG -3'

Sequencing Primer
(F):5'- ACATCAGTCCCTGTCTGAGG -3'
(R):5'- ACTCACCGTTCAGCATCG -3'
Posted On 2013-04-16