Incidental Mutation 'R2121:Arhgef26'
ID 231435
Institutional Source Beutler Lab
Gene Symbol Arhgef26
Ensembl Gene ENSMUSG00000036885
Gene Name Rho guanine nucleotide exchange factor 26
Synonyms 8430436L14Rik, 4631416L12Rik
MMRRC Submission 040125-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R2121 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 62245765-62369642 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62247704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 263 (N263Y)
Ref Sequence ENSEMBL: ENSMUSP00000078281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079300]
AlphaFold D3YYY8
Predicted Effect probably damaging
Transcript: ENSMUST00000079300
AA Change: N263Y

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000078281
Gene: ENSMUSG00000036885
AA Change: N263Y

DomainStartEndE-ValueType
low complexity region 133 144 N/A INTRINSIC
low complexity region 392 403 N/A INTRINSIC
RhoGEF 441 620 1e-45 SMART
PH 654 782 4.04e-9 SMART
SH3 790 847 3.82e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161493
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163008
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192267
Meta Mutation Damage Score 0.1068 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (66/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Rho-guanine nucleotide exchange factor (Rho-GEF) family. These proteins regulate Rho GTPases by catalyzing the exchange of GDP for GTP. The encoded protein specifically activates RhoG and plays a role in the promotion of macropinocytosis. Underexpression of the encoded protein may be a predictive marker of chemoresistant disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defective activation of RhoG and reduced membrane protrusion after ICAM-1 clustering. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 T A 17: 84,978,575 (GRCm39) E294D probably benign Het
Adnp2 A G 18: 80,172,385 (GRCm39) F675L probably benign Het
Akna G A 4: 63,295,137 (GRCm39) T1024I probably benign Het
Ambn T A 5: 88,608,617 (GRCm39) probably benign Het
Aox3 T C 1: 58,191,708 (GRCm39) probably benign Het
Arhgef10 A G 8: 14,984,820 (GRCm39) D200G probably damaging Het
Arpp21 A G 9: 111,965,738 (GRCm39) S375P probably damaging Het
Bscl2 G T 19: 8,817,146 (GRCm39) E25* probably null Het
Ccl12 T A 11: 81,992,776 (GRCm39) S17R probably damaging Het
Cdh1 A G 8: 107,390,842 (GRCm39) I653V probably benign Het
Ceacam9 T A 7: 16,455,928 (GRCm39) F12I probably benign Het
Cfap47 T C X: 78,553,927 (GRCm39) I267V probably benign Het
Cldn23 A G 8: 36,293,389 (GRCm39) V33A probably benign Het
Cog1 T C 11: 113,540,424 (GRCm39) L13P probably damaging Het
Col20a1 G C 2: 180,638,249 (GRCm39) A346P probably damaging Het
Col6a3 T C 1: 90,738,087 (GRCm39) D537G probably damaging Het
Ctnnd2 G A 15: 30,669,660 (GRCm39) R423H probably damaging Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Dcdc2a T G 13: 25,303,268 (GRCm39) S266R possibly damaging Het
Diaph1 A T 18: 38,029,442 (GRCm39) M330K unknown Het
Dnah5 C T 15: 28,297,151 (GRCm39) probably benign Het
F13a1 T A 13: 37,209,653 (GRCm39) Y104F probably benign Het
Fam78b G A 1: 166,906,278 (GRCm39) V146M probably damaging Het
Fancl G T 11: 26,409,841 (GRCm39) probably benign Het
Gm10477 A G X: 55,570,192 (GRCm39) K31E probably damaging Het
Gstm7 T C 3: 107,834,230 (GRCm39) M175V probably benign Het
Hcn4 T C 9: 58,731,341 (GRCm39) S183P unknown Het
Heatr1 T C 13: 12,418,145 (GRCm39) V359A probably benign Het
Ikbkb T C 8: 23,157,233 (GRCm39) probably benign Het
Ints6l T A X: 55,550,228 (GRCm39) S718T probably benign Het
Kctd5 T C 17: 24,274,940 (GRCm39) T212A probably benign Het
Kdm3b T C 18: 34,929,833 (GRCm39) probably benign Het
Ltbp1 T A 17: 75,617,154 (GRCm39) V1031E possibly damaging Het
Lyst A G 13: 13,835,556 (GRCm39) Y1746C probably damaging Het
Mageb5 A G X: 90,823,701 (GRCm39) I226T probably damaging Het
Mdc1 C T 17: 36,158,835 (GRCm39) A405V probably benign Het
Mlc1 A G 15: 88,847,634 (GRCm39) Y305H probably benign Het
Mtcl2 T C 2: 156,875,245 (GRCm39) E835G probably damaging Het
Muc4 A G 16: 32,580,612 (GRCm39) Y2474C unknown Het
Mybphl A C 3: 108,282,492 (GRCm39) N175T probably damaging Het
Ncbp3 T C 11: 72,944,304 (GRCm39) V102A possibly damaging Het
Neb A G 2: 52,154,076 (GRCm39) F2345S probably damaging Het
Nlrp6 T C 7: 140,506,357 (GRCm39) V766A probably benign Het
Odad4 T A 11: 100,457,837 (GRCm39) probably null Het
Or7e173 T G 9: 19,938,797 (GRCm39) I146L probably benign Het
Or8j3 T A 2: 86,028,340 (GRCm39) Y252F possibly damaging Het
Palb2 T C 7: 121,727,004 (GRCm39) T289A possibly damaging Het
Pde10a A T 17: 9,196,047 (GRCm39) Q657L probably damaging Het
Ppp2r2a A T 14: 67,260,577 (GRCm39) F234I probably damaging Het
Prl3c1 T A 13: 27,383,325 (GRCm39) probably null Het
Psg20 T A 7: 18,414,947 (GRCm39) Y316F probably benign Het
Sap18 T A 14: 58,036,011 (GRCm39) S66T probably damaging Het
Serpina3m A G 12: 104,355,941 (GRCm39) M203V possibly damaging Het
Slc6a21 A T 7: 44,937,886 (GRCm39) I726F probably benign Het
Spmap2l A T 5: 77,208,605 (GRCm39) I378L probably benign Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Tfdp2 T C 9: 96,177,067 (GRCm39) S75P probably damaging Het
Tll1 T C 8: 64,538,591 (GRCm39) E351G probably benign Het
Tmed11 G A 5: 108,943,198 (GRCm39) probably benign Het
Tmem81 C A 1: 132,435,847 (GRCm39) Q218K probably benign Het
Tnfsf11 G A 14: 78,537,333 (GRCm39) T110I probably benign Het
Tub G A 7: 108,625,944 (GRCm39) G232S probably damaging Het
Vmn2r121 A T X: 123,043,439 (GRCm39) probably null Het
Vwa5b1 T C 4: 138,315,880 (GRCm39) T621A probably benign Het
Ythdf3 T C 3: 16,259,356 (GRCm39) F501S possibly damaging Het
Other mutations in Arhgef26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Arhgef26 APN 3 62,247,804 (GRCm39) missense probably benign
IGL01060:Arhgef26 APN 3 62,247,542 (GRCm39) missense probably benign 0.44
IGL01942:Arhgef26 APN 3 62,247,515 (GRCm39) missense probably benign 0.03
IGL02085:Arhgef26 APN 3 62,367,145 (GRCm39) intron probably benign
IGL02172:Arhgef26 APN 3 62,367,097 (GRCm39) missense probably benign 0.03
IGL03017:Arhgef26 APN 3 62,355,702 (GRCm39) missense possibly damaging 0.46
IGL03101:Arhgef26 APN 3 62,327,082 (GRCm39) missense possibly damaging 0.95
IGL03296:Arhgef26 APN 3 62,330,926 (GRCm39) missense probably damaging 1.00
IGL03401:Arhgef26 APN 3 62,330,953 (GRCm39) missense possibly damaging 0.95
R0138:Arhgef26 UTSW 3 62,355,680 (GRCm39) missense probably benign 0.06
R0140:Arhgef26 UTSW 3 62,355,666 (GRCm39) missense probably benign 0.02
R0152:Arhgef26 UTSW 3 62,330,965 (GRCm39) missense probably damaging 0.99
R0157:Arhgef26 UTSW 3 62,288,392 (GRCm39) missense probably damaging 1.00
R0308:Arhgef26 UTSW 3 62,247,820 (GRCm39) missense probably benign 0.01
R0317:Arhgef26 UTSW 3 62,330,965 (GRCm39) missense probably damaging 0.99
R0529:Arhgef26 UTSW 3 62,247,146 (GRCm39) missense probably benign
R0825:Arhgef26 UTSW 3 62,334,014 (GRCm39) missense probably damaging 0.97
R1331:Arhgef26 UTSW 3 62,247,449 (GRCm39) missense probably benign 0.00
R1333:Arhgef26 UTSW 3 62,247,744 (GRCm39) missense probably benign 0.04
R1351:Arhgef26 UTSW 3 62,288,262 (GRCm39) missense probably damaging 1.00
R1740:Arhgef26 UTSW 3 62,331,004 (GRCm39) missense probably damaging 1.00
R2404:Arhgef26 UTSW 3 62,336,336 (GRCm39) missense possibly damaging 0.90
R2437:Arhgef26 UTSW 3 62,340,002 (GRCm39) missense probably damaging 0.96
R2939:Arhgef26 UTSW 3 62,288,331 (GRCm39) missense possibly damaging 0.72
R3084:Arhgef26 UTSW 3 62,285,037 (GRCm39) missense probably benign 0.19
R3712:Arhgef26 UTSW 3 62,331,050 (GRCm39) missense probably damaging 1.00
R4005:Arhgef26 UTSW 3 62,247,816 (GRCm39) missense probably benign
R4225:Arhgef26 UTSW 3 62,288,343 (GRCm39) missense probably benign 0.00
R4635:Arhgef26 UTSW 3 62,247,861 (GRCm39) missense probably damaging 1.00
R4961:Arhgef26 UTSW 3 62,367,046 (GRCm39) missense probably damaging 1.00
R4989:Arhgef26 UTSW 3 62,247,806 (GRCm39) missense possibly damaging 0.94
R5249:Arhgef26 UTSW 3 62,247,981 (GRCm39) missense probably damaging 1.00
R5284:Arhgef26 UTSW 3 62,327,052 (GRCm39) missense probably damaging 0.99
R5661:Arhgef26 UTSW 3 62,285,075 (GRCm39) splice site probably benign
R5970:Arhgef26 UTSW 3 62,247,468 (GRCm39) missense probably benign
R6022:Arhgef26 UTSW 3 62,336,360 (GRCm39) missense probably damaging 1.00
R6193:Arhgef26 UTSW 3 62,247,213 (GRCm39) missense possibly damaging 0.49
R6247:Arhgef26 UTSW 3 62,288,381 (GRCm39) missense probably damaging 1.00
R6434:Arhgef26 UTSW 3 62,336,335 (GRCm39) missense probably damaging 0.99
R6827:Arhgef26 UTSW 3 62,330,919 (GRCm39) splice site probably null
R7111:Arhgef26 UTSW 3 62,252,689 (GRCm39) missense possibly damaging 0.90
R7128:Arhgef26 UTSW 3 62,326,971 (GRCm39) missense possibly damaging 0.94
R7360:Arhgef26 UTSW 3 62,355,626 (GRCm39) missense possibly damaging 0.63
R7456:Arhgef26 UTSW 3 62,247,476 (GRCm39) missense probably benign 0.00
R8039:Arhgef26 UTSW 3 62,247,351 (GRCm39) missense probably benign 0.32
R8120:Arhgef26 UTSW 3 62,248,796 (GRCm39) missense probably damaging 1.00
R8511:Arhgef26 UTSW 3 62,336,350 (GRCm39) missense probably damaging 0.98
R8887:Arhgef26 UTSW 3 62,247,401 (GRCm39) missense probably benign 0.04
R8979:Arhgef26 UTSW 3 62,246,969 (GRCm39) missense possibly damaging 0.78
R8993:Arhgef26 UTSW 3 62,355,525 (GRCm39) missense probably benign 0.43
R9213:Arhgef26 UTSW 3 62,340,000 (GRCm39) missense probably benign 0.03
R9269:Arhgef26 UTSW 3 62,247,920 (GRCm39) missense probably damaging 0.98
R9712:Arhgef26 UTSW 3 62,331,034 (GRCm39) missense probably damaging 1.00
R9776:Arhgef26 UTSW 3 62,246,803 (GRCm39) start gained probably benign
Z1177:Arhgef26 UTSW 3 62,247,351 (GRCm39) missense probably benign 0.32
Predicted Primers PCR Primer
(F):5'- CCAGTATCACAAACTGGTCAGC -3'
(R):5'- CTGCCCTTCTGTAAGACGTG -3'

Sequencing Primer
(F):5'- TCAGCCAGCTGGGGACTTG -3'
(R):5'- CTTCTGTAAGACGTGGACCTCAAG -3'
Posted On 2014-09-18