Incidental Mutation 'R7358:Arhgef5'
ID 571095
Institutional Source Beutler Lab
Gene Symbol Arhgef5
Ensembl Gene ENSMUSG00000033542
Gene Name Rho guanine nucleotide exchange factor 5
Synonyms 2210412D05Rik
MMRRC Submission 045444-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7358 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 43242578-43266254 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 43256507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 1205 (R1205H)
Ref Sequence ENSEMBL: ENSMUSP00000031750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031750]
AlphaFold E9Q7D5
Predicted Effect probably damaging
Transcript: ENSMUST00000031750
AA Change: R1205H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: R1205H

DomainStartEndE-ValueType
Pfam:ARHGEF5_35 1 477 3.1e-220 PFAM
low complexity region 509 531 N/A INTRINSIC
low complexity region 812 825 N/A INTRINSIC
low complexity region 827 851 N/A INTRINSIC
RhoGEF 1162 1341 2.97e-57 SMART
PH 1375 1488 1.11e-6 SMART
SH3 1497 1554 6.39e-15 SMART
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased Th2 response in an ovalbumin-induced asthma model. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T A 17: 24,510,529 (GRCm39) Q983L probably benign Het
Agtr1a A T 13: 30,564,962 (GRCm39) D9V probably benign Het
Ahcyl T C 16: 45,974,201 (GRCm39) E392G probably damaging Het
Ankrd13c T A 3: 157,697,374 (GRCm39) Y326* probably null Het
Ano2 A G 6: 125,687,696 (GRCm39) D67G probably benign Het
Ascc3 T A 10: 50,590,448 (GRCm39) Y1055* probably null Het
Atad5 C T 11: 80,023,862 (GRCm39) A1658V probably benign Het
Atp6ap1l T C 13: 91,031,926 (GRCm39) D252G probably damaging Het
Bdkrb2 T C 12: 105,558,800 (GRCm39) V347A possibly damaging Het
Ccdc187 A T 2: 26,146,007 (GRCm39) L1194Q probably damaging Het
Chd9 A C 8: 91,710,115 (GRCm39) D770A unknown Het
Chd9 A G 8: 91,760,846 (GRCm39) D2197G unknown Het
Clip2 C A 5: 134,531,484 (GRCm39) E774* probably null Het
Clspn A G 4: 126,459,993 (GRCm39) T407A probably benign Het
Col24a1 T A 3: 144,998,926 (GRCm39) probably null Het
Cradd T A 10: 95,158,637 (GRCm39) T37S probably damaging Het
Cspg4b A G 13: 113,456,501 (GRCm39) D849G Het
Ctbp2 A G 7: 132,600,610 (GRCm39) F70S probably damaging Het
D3Ertd751e A T 3: 41,701,000 (GRCm39) E6D probably damaging Het
Dst T A 1: 34,230,754 (GRCm39) F2782L probably benign Het
Dync2h1 A G 9: 7,159,479 (GRCm39) probably null Het
Eif2s1 G T 12: 78,927,969 (GRCm39) G215V probably damaging Het
Epg5 A T 18: 78,002,252 (GRCm39) D557V possibly damaging Het
Eya4 C T 10: 22,999,749 (GRCm39) probably null Het
Fpr1 C A 17: 18,097,242 (GRCm39) R249L probably damaging Het
Fry A G 5: 150,339,788 (GRCm39) T1520A probably benign Het
Gapvd1 C T 2: 34,580,473 (GRCm39) probably null Het
Gemin4 A C 11: 76,104,278 (GRCm39) L161* probably null Het
Gid8 A T 2: 180,359,779 (GRCm39) K221I probably benign Het
Gm21028 A C 7: 42,227,913 (GRCm39) C34G probably damaging Het
Greb1 A G 12: 16,774,882 (GRCm39) S172P probably damaging Het
Herc2 A G 7: 55,832,423 (GRCm39) I3040V possibly damaging Het
Hmcn2 T A 2: 31,306,824 (GRCm39) V3190E probably damaging Het
Hrnr G T 3: 93,230,448 (GRCm39) G229* probably null Het
Igfn1 A T 1: 135,891,738 (GRCm39) V2259D probably damaging Het
Ism2 A G 12: 87,326,814 (GRCm39) F375S probably damaging Het
Kcnk4 T A 19: 6,903,478 (GRCm39) D357V probably damaging Het
Knl1 A G 2: 118,901,040 (GRCm39) R914G possibly damaging Het
Mars2 T C 1: 55,276,729 (GRCm39) S111P probably damaging Het
Mogat2 G A 7: 98,881,673 (GRCm39) P88S possibly damaging Het
Msh2 T A 17: 88,024,957 (GRCm39) S612T possibly damaging Het
Nvl A G 1: 180,962,601 (GRCm39) L123P probably damaging Het
Or1j20 T C 2: 36,759,890 (GRCm39) V104A probably benign Het
Or2d3c A T 7: 106,526,111 (GRCm39) L185Q probably damaging Het
Or51v15-ps1 A G 7: 103,278,390 (GRCm39) L259P unknown Het
Or5m11b T A 2: 85,805,780 (GRCm39) S64R possibly damaging Het
Or6c202 T A 10: 128,995,939 (GRCm39) I305F probably benign Het
Or7e174 A T 9: 20,012,169 (GRCm39) Y38F probably damaging Het
P2rx7 A T 5: 122,804,205 (GRCm39) probably null Het
Pard3 A T 8: 128,319,573 (GRCm39) I1149L probably damaging Het
Pcdha8 T A 18: 37,125,830 (GRCm39) I104N probably damaging Het
Pecr G A 1: 72,306,624 (GRCm39) T219I probably benign Het
Pgap2 A T 7: 101,859,774 (GRCm39) probably benign Het
Phf7 T C 14: 30,963,745 (GRCm39) R76G probably benign Het
Pigu T C 2: 155,141,090 (GRCm39) T268A probably damaging Het
Piwil4 T C 9: 14,641,289 (GRCm39) T231A possibly damaging Het
Pkd1l1 T G 11: 8,895,202 (GRCm39) E636A Het
Plscr3 T C 11: 69,738,316 (GRCm39) S55P unknown Het
Pnlip T A 19: 58,664,976 (GRCm39) I268N probably damaging Het
Podxl A T 6: 31,501,929 (GRCm39) H343Q probably benign Het
Prkcd T C 14: 30,327,793 (GRCm39) T213A probably benign Het
Prss22 T A 17: 24,215,419 (GRCm39) Q119L probably benign Het
Psme3ip1 T C 8: 95,302,327 (GRCm39) N235D possibly damaging Het
Ptprcap A G 19: 4,206,238 (GRCm39) E107G possibly damaging Het
Ptprg A G 14: 12,154,198 (GRCm38) T640A possibly damaging Het
Ptprh A T 7: 4,554,006 (GRCm39) probably null Het
Rasa4 A G 5: 136,124,448 (GRCm39) T166A probably benign Het
Sbf2 T C 7: 109,998,555 (GRCm39) E626G possibly damaging Het
Scn2a T A 2: 65,512,850 (GRCm39) Y203* probably null Het
Serpinb1a G C 13: 33,026,981 (GRCm39) H320Q probably damaging Het
Shisa7 G A 7: 4,832,920 (GRCm39) T464I probably benign Het
Slc47a2 G A 11: 61,199,699 (GRCm39) A399V possibly damaging Het
Snrnp200 A G 2: 127,063,746 (GRCm39) T642A probably benign Het
Spag16 A G 1: 69,883,526 (GRCm39) H85R probably benign Het
Spata31h1 A G 10: 82,127,847 (GRCm39) L1721S possibly damaging Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Stag3 C A 5: 138,299,770 (GRCm39) L894M probably damaging Het
Sun2 A T 15: 79,618,313 (GRCm39) F284Y probably benign Het
Tpx2 T A 2: 152,718,550 (GRCm39) N184K probably benign Het
Trpa1 A T 1: 14,968,334 (GRCm39) N477K probably damaging Het
Ttbk2 C T 2: 120,620,791 (GRCm39) R157H probably damaging Het
Ttn C T 2: 76,537,649 (GRCm39) E34760K probably benign Het
Tysnd1 T C 10: 61,532,427 (GRCm39) S360P probably damaging Het
Uqcc5 A G 14: 30,846,560 (GRCm39) V53A probably damaging Het
Usp34 T A 11: 23,311,683 (GRCm39) L511I probably damaging Het
Vmn2r71 A T 7: 85,273,468 (GRCm39) T761S possibly damaging Het
Zdhhc18 G T 4: 133,360,482 (GRCm39) C73* probably null Het
Zfp975 A T 7: 42,312,215 (GRCm39) C133S probably damaging Het
Zfy1 T C Y: 735,141 (GRCm39) E214G unknown Het
Zmym5 T A 14: 57,031,597 (GRCm39) K504* probably null Het
Other mutations in Arhgef5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Arhgef5 APN 6 43,257,203 (GRCm39) nonsense probably null
IGL01341:Arhgef5 APN 6 43,260,925 (GRCm39) missense probably damaging 1.00
IGL01576:Arhgef5 APN 6 43,250,962 (GRCm39) missense probably benign 0.38
IGL01761:Arhgef5 APN 6 43,251,538 (GRCm39) missense probably benign 0.00
IGL02104:Arhgef5 APN 6 43,249,345 (GRCm39) missense probably damaging 0.99
IGL02208:Arhgef5 APN 6 43,252,064 (GRCm39) missense probably benign 0.11
IGL02487:Arhgef5 APN 6 43,260,916 (GRCm39) missense probably damaging 1.00
IGL02650:Arhgef5 APN 6 43,249,869 (GRCm39) nonsense probably null
IGL03292:Arhgef5 APN 6 43,257,180 (GRCm39) missense probably damaging 1.00
IGL03334:Arhgef5 APN 6 43,250,934 (GRCm39) missense possibly damaging 0.47
IGL03341:Arhgef5 APN 6 43,257,585 (GRCm39) missense probably damaging 0.99
R0047:Arhgef5 UTSW 6 43,242,555 (GRCm39) splice site probably null
R0206:Arhgef5 UTSW 6 43,250,275 (GRCm39) missense probably damaging 1.00
R0208:Arhgef5 UTSW 6 43,250,275 (GRCm39) missense probably damaging 1.00
R0698:Arhgef5 UTSW 6 43,250,275 (GRCm39) missense probably damaging 1.00
R1145:Arhgef5 UTSW 6 43,250,022 (GRCm39) missense possibly damaging 0.92
R1145:Arhgef5 UTSW 6 43,250,022 (GRCm39) missense possibly damaging 0.92
R1168:Arhgef5 UTSW 6 43,250,330 (GRCm39) missense probably benign 0.00
R1355:Arhgef5 UTSW 6 43,260,846 (GRCm39) missense probably damaging 1.00
R1370:Arhgef5 UTSW 6 43,260,846 (GRCm39) missense probably damaging 1.00
R1481:Arhgef5 UTSW 6 43,251,568 (GRCm39) missense probably damaging 0.99
R1529:Arhgef5 UTSW 6 43,256,449 (GRCm39) missense probably damaging 0.96
R1532:Arhgef5 UTSW 6 43,250,337 (GRCm39) missense probably benign
R1663:Arhgef5 UTSW 6 43,253,899 (GRCm39) missense probably damaging 1.00
R1742:Arhgef5 UTSW 6 43,257,133 (GRCm39) missense probably damaging 1.00
R1852:Arhgef5 UTSW 6 43,252,119 (GRCm39) missense probably benign 0.00
R1869:Arhgef5 UTSW 6 43,265,616 (GRCm39) missense probably damaging 1.00
R1880:Arhgef5 UTSW 6 43,250,022 (GRCm39) missense possibly damaging 0.92
R2146:Arhgef5 UTSW 6 43,260,252 (GRCm39) missense probably damaging 1.00
R2169:Arhgef5 UTSW 6 43,251,354 (GRCm39) missense probably benign 0.11
R3412:Arhgef5 UTSW 6 43,250,724 (GRCm39) missense probably benign
R4205:Arhgef5 UTSW 6 43,250,766 (GRCm39) missense possibly damaging 0.76
R4226:Arhgef5 UTSW 6 43,256,432 (GRCm39) missense probably damaging 1.00
R4227:Arhgef5 UTSW 6 43,256,432 (GRCm39) missense probably damaging 1.00
R4304:Arhgef5 UTSW 6 43,256,432 (GRCm39) missense probably damaging 1.00
R4308:Arhgef5 UTSW 6 43,256,432 (GRCm39) missense probably damaging 1.00
R4457:Arhgef5 UTSW 6 43,251,027 (GRCm39) missense probably damaging 1.00
R4469:Arhgef5 UTSW 6 43,252,033 (GRCm39) missense probably benign
R4636:Arhgef5 UTSW 6 43,251,876 (GRCm39) missense probably benign 0.11
R4791:Arhgef5 UTSW 6 43,260,117 (GRCm39) missense probably damaging 1.00
R4818:Arhgef5 UTSW 6 43,250,484 (GRCm39) missense probably benign 0.00
R4910:Arhgef5 UTSW 6 43,249,762 (GRCm39) missense probably benign 0.01
R4911:Arhgef5 UTSW 6 43,249,762 (GRCm39) missense probably benign 0.01
R5127:Arhgef5 UTSW 6 43,250,148 (GRCm39) missense probably damaging 0.99
R5209:Arhgef5 UTSW 6 43,250,634 (GRCm39) missense probably benign 0.01
R5245:Arhgef5 UTSW 6 43,242,614 (GRCm39) start gained probably benign
R5251:Arhgef5 UTSW 6 43,249,815 (GRCm39) missense possibly damaging 0.76
R5513:Arhgef5 UTSW 6 43,249,273 (GRCm39) missense probably damaging 0.96
R5613:Arhgef5 UTSW 6 43,250,997 (GRCm39) missense probably benign 0.01
R5616:Arhgef5 UTSW 6 43,252,874 (GRCm39) missense probably benign 0.20
R5817:Arhgef5 UTSW 6 43,252,038 (GRCm39) missense probably benign 0.15
R6024:Arhgef5 UTSW 6 43,252,068 (GRCm39) missense probably benign 0.00
R6735:Arhgef5 UTSW 6 43,251,966 (GRCm39) missense probably benign 0.01
R6825:Arhgef5 UTSW 6 43,251,895 (GRCm39) missense probably damaging 0.99
R6831:Arhgef5 UTSW 6 43,257,933 (GRCm39) missense probably damaging 1.00
R6901:Arhgef5 UTSW 6 43,250,232 (GRCm39) missense probably benign 0.00
R6932:Arhgef5 UTSW 6 43,251,351 (GRCm39) missense possibly damaging 0.94
R6968:Arhgef5 UTSW 6 43,252,276 (GRCm39) missense probably benign 0.00
R7018:Arhgef5 UTSW 6 43,265,665 (GRCm39) missense probably damaging 1.00
R7180:Arhgef5 UTSW 6 43,252,142 (GRCm39) missense possibly damaging 0.87
R7201:Arhgef5 UTSW 6 43,250,166 (GRCm39) nonsense probably null
R7359:Arhgef5 UTSW 6 43,257,216 (GRCm39) missense probably damaging 1.00
R7468:Arhgef5 UTSW 6 43,257,605 (GRCm39) nonsense probably null
R7503:Arhgef5 UTSW 6 43,250,933 (GRCm39) missense probably benign 0.15
R7699:Arhgef5 UTSW 6 43,251,691 (GRCm39) missense probably benign 0.11
R7700:Arhgef5 UTSW 6 43,251,691 (GRCm39) missense probably benign 0.11
R7737:Arhgef5 UTSW 6 43,250,728 (GRCm39) missense possibly damaging 0.84
R7847:Arhgef5 UTSW 6 43,252,069 (GRCm39) nonsense probably null
R7950:Arhgef5 UTSW 6 43,250,859 (GRCm39) missense possibly damaging 0.76
R8161:Arhgef5 UTSW 6 43,260,885 (GRCm39) missense probably damaging 1.00
R8178:Arhgef5 UTSW 6 43,252,119 (GRCm39) missense probably benign 0.00
R8203:Arhgef5 UTSW 6 43,257,579 (GRCm39) missense probably damaging 1.00
R8318:Arhgef5 UTSW 6 43,252,933 (GRCm39) critical splice donor site probably null
R8857:Arhgef5 UTSW 6 43,264,558 (GRCm39) missense probably damaging 1.00
R9499:Arhgef5 UTSW 6 43,260,940 (GRCm39) missense
R9610:Arhgef5 UTSW 6 43,257,890 (GRCm39) missense probably damaging 0.99
R9611:Arhgef5 UTSW 6 43,257,890 (GRCm39) missense probably damaging 0.99
R9623:Arhgef5 UTSW 6 43,251,736 (GRCm39) missense possibly damaging 0.86
R9685:Arhgef5 UTSW 6 43,250,527 (GRCm39) missense probably benign 0.11
RF023:Arhgef5 UTSW 6 43,256,407 (GRCm39) missense probably damaging 1.00
X0028:Arhgef5 UTSW 6 43,250,635 (GRCm39) missense probably benign 0.03
X0065:Arhgef5 UTSW 6 43,249,342 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GATCAACCCTAAACCATTGTTCAGC -3'
(R):5'- TCTACCCCTGAAGGTCATGGAG -3'

Sequencing Primer
(F):5'- TCAGCAACTTTTATCTACCAGACAG -3'
(R):5'- TCATGGAGGGAGCCCAG -3'
Posted On 2019-09-13