Incidental Mutation 'R5232:Arhgap26'
ID 398657
Institutional Source Beutler Lab
Gene Symbol Arhgap26
Ensembl Gene ENSMUSG00000036452
Gene Name Rho GTPase activating protein 26
Synonyms 4933432P15Rik, 2610010G17Rik, 1810044B20Rik
MMRRC Submission 042804-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5232 (G1)
Quality Score 151
Status Not validated
Chromosome 18
Chromosomal Location 38734531-39509338 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 39126529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000122371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097593] [ENSMUST00000148850] [ENSMUST00000155576]
AlphaFold Q6ZQ82
Predicted Effect probably null
Transcript: ENSMUST00000097593
AA Change: M1V

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000095200
Gene: ENSMUSG00000036452
AA Change: M1V

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 noncoding transcript
Transcript: ENSMUST00000115574
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131421
Predicted Effect probably benign
Transcript: ENSMUST00000148850
SMART Domains Protein: ENSMUSP00000121894
Gene: ENSMUSG00000036452

DomainStartEndE-ValueType
coiled coil region 99 128 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000155576
AA Change: M1V

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122371
Gene: ENSMUSG00000036452
AA Change: M1V

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T C 16: 20,157,672 (GRCm39) E1295G probably damaging Het
Adarb2 C A 13: 8,763,676 (GRCm39) H524Q possibly damaging Het
Atp10b G A 11: 43,093,006 (GRCm39) R447H probably damaging Het
B4galnt3 T A 6: 120,209,949 (GRCm39) Y58F probably damaging Het
Cdca7l A G 12: 117,833,820 (GRCm39) E79G probably damaging Het
Chd4 C G 6: 125,098,273 (GRCm39) P350A probably damaging Het
Coq2 G A 5: 100,805,698 (GRCm39) H313Y possibly damaging Het
Cubn A T 2: 13,483,013 (GRCm39) C244* probably null Het
Cyfip2 A G 11: 46,133,205 (GRCm39) S832P probably damaging Het
Dnaaf1 A C 8: 120,317,329 (GRCm39) E286A probably benign Het
Emilin1 A G 5: 31,074,323 (GRCm39) K188R probably benign Het
Fstl5 T C 3: 76,052,284 (GRCm39) W5R possibly damaging Het
Gm5565 T A 5: 146,096,947 (GRCm39) Y64F possibly damaging Het
Golga4 G A 9: 118,335,626 (GRCm39) probably null Het
Hmcn2 T C 2: 31,347,760 (GRCm39) L4802P probably damaging Het
Hnrnpll C T 17: 80,346,107 (GRCm39) V385I probably damaging Het
Kctd9 A T 14: 67,962,110 (GRCm39) D51V probably damaging Het
Lcn9 T C 2: 25,714,067 (GRCm39) probably null Het
Map1a C A 2: 121,132,466 (GRCm39) P856H probably damaging Het
Myo5b G C 18: 74,848,003 (GRCm39) E1080D probably damaging Het
Naglu T C 11: 100,960,976 (GRCm39) I9T probably benign Het
Ndst3 A T 3: 123,465,888 (GRCm39) I28N probably damaging Het
Olfm4 A G 14: 80,259,122 (GRCm39) N424D probably damaging Het
Or11g26 T A 14: 50,753,495 (GRCm39) V278E probably damaging Het
Or4n5 A G 14: 50,133,155 (GRCm39) Y35H probably damaging Het
Phf13 T C 4: 152,076,680 (GRCm39) T171A probably damaging Het
Plk3 A G 4: 116,986,317 (GRCm39) V605A probably benign Het
Polr3a A T 14: 24,503,279 (GRCm39) M1185K probably benign Het
Pramel7 A T 2: 87,320,320 (GRCm39) H324Q probably damaging Het
Prpf4b T A 13: 35,067,573 (GRCm39) probably benign Het
Pxdn C T 12: 30,040,987 (GRCm39) T421I probably benign Het
Sertad2 C T 11: 20,598,344 (GRCm39) T180I possibly damaging Het
Sgo2b C A 8: 64,381,636 (GRCm39) A399S possibly damaging Het
Skint5 T C 4: 113,434,841 (GRCm39) K1043E unknown Het
Slc22a27 C G 19: 7,843,303 (GRCm39) A359P probably damaging Het
Spock3 T C 8: 63,798,843 (GRCm39) F288S probably damaging Het
Srgap1 T C 10: 121,676,816 (GRCm39) I393V probably benign Het
Taf6 T C 5: 138,178,214 (GRCm39) K429R possibly damaging Het
Vav1 T C 17: 57,610,846 (GRCm39) F447L possibly damaging Het
Vmn2r19 T C 6: 123,312,916 (GRCm39) M662T probably benign Het
Zfp541 A G 7: 15,829,104 (GRCm39) Y1152C probably damaging 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
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
R5930:Arhgap26 UTSW 18 39,283,145 (GRCm39) missense probably damaging 0.96
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'- TAGGTCATCGCTAGCAGGTTC -3'
(R):5'- ATAGACACCGGTCACTCTGC -3'

Sequencing Primer
(F):5'- CTTCTGTGAGAGGGCGCTC -3'
(R):5'- GTCACTCTGCGCCCGAG -3'
Posted On 2016-07-06