Incidental Mutation 'R7737:Arhgef5'
ID 596315
Institutional Source Beutler Lab
Gene Symbol Arhgef5
Ensembl Gene ENSMUSG00000033542
Gene Name Rho guanine nucleotide exchange factor (GEF) 5
Synonyms 2210412D05Rik
MMRRC Submission 045793-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7737 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 43265582-43289320 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43273794 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 493 (E493G)
Ref Sequence ENSEMBL: ENSMUSP00000031750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031750]
AlphaFold E9Q7D5
Predicted Effect possibly damaging
Transcript: ENSMUST00000031750
AA Change: E493G

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: E493G

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 probably benign
Transcript: ENSMUST00000182924
Meta Mutation Damage Score 0.1007 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (63/64)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410141K09Rik A G 13: 66,433,677 (GRCm38) probably null Het
9530053A07Rik T A 7: 28,157,073 (GRCm38) V2095E probably damaging Het
Adamts18 A T 8: 113,736,934 (GRCm38) probably null Het
Akap3 T A 6: 126,874,102 (GRCm38) M861K probably damaging Het
Ankrd42 T C 7: 92,605,262 (GRCm38) T380A possibly damaging Het
Armc4 A G 18: 7,217,890 (GRCm38) L608P probably damaging Het
Arvcf G A 16: 18,397,101 (GRCm38) R119Q probably damaging Het
Asmt T C X: 170,676,440 (GRCm38) F228S probably damaging Het
Atp2c2 T A 8: 119,742,395 (GRCm38) V349E probably damaging Het
BC034090 A G 1: 155,241,673 (GRCm38) V233A possibly damaging Het
Brinp3 G T 1: 146,682,594 (GRCm38) K85N probably damaging Het
Ccr6 G A 17: 8,245,094 (GRCm38) probably benign Het
D7Ertd443e A G 7: 134,270,201 (GRCm38) S644P probably damaging Het
Ddb1 C T 19: 10,625,974 (GRCm38) A882V possibly damaging Het
Epha4 C T 1: 77,381,012 (GRCm38) G783D probably damaging Het
Ephb1 T A 9: 101,984,103 (GRCm38) I621F probably damaging Het
Fbxw18 G T 9: 109,701,263 (GRCm38) Y93* probably null Het
Gak A C 5: 108,617,008 (GRCm38) L84R probably benign Het
Gm21671 AACT A 5: 25,950,851 (GRCm38) probably benign Het
Gm5458 A T 14: 19,599,737 (GRCm38) probably null Het
Gpatch3 C G 4: 133,575,096 (GRCm38) Q113E probably benign Het
Gpld1 C A 13: 24,975,726 (GRCm38) L426M probably damaging Het
Ighmbp2 G A 19: 3,274,467 (GRCm38) P234S unknown Het
Itga6 G A 2: 71,822,443 (GRCm38) V217I probably benign Het
Kdm7a A T 6: 39,144,404 (GRCm38) N872K probably benign Het
Klhl14 G T 18: 21,558,134 (GRCm38) Y446* probably null Het
Larp4b T A 13: 9,170,643 (GRCm38) probably null Het
Lct A T 1: 128,298,693 (GRCm38) W1320R probably benign Het
Lrp2 T C 2: 69,496,438 (GRCm38) D1763G possibly damaging Het
Lrrk2 A T 15: 91,815,446 (GRCm38) N2499Y probably damaging Het
Lsg1 T C 16: 30,581,185 (GRCm38) probably null Het
Mettl15 T C 2: 109,137,378 (GRCm38) K188E probably damaging Het
Mfsd4b1 A G 10: 40,003,278 (GRCm38) S208P probably damaging Het
Mlxipl T C 5: 135,135,381 (GRCm38) S793P possibly damaging Het
Ms4a14 G A 19: 11,302,786 (GRCm38) Q803* probably null Het
Mtor A C 4: 148,538,738 (GRCm38) E2015A possibly damaging Het
Myo15b A T 11: 115,887,923 (GRCm38) Y2581F unknown Het
Myo7b A T 18: 32,014,204 (GRCm38) Y95* probably null Het
Nf1 A G 11: 79,545,488 (GRCm38) I1985V probably benign Het
Noxred1 G A 12: 87,221,362 (GRCm38) Q332* probably null Het
Nudt21 A T 8: 94,022,833 (GRCm38) Y202N probably damaging Het
Olfr345 A T 2: 36,640,620 (GRCm38) I194F probably benign Het
Pik3c2a A T 7: 116,356,253 (GRCm38) S1176T probably damaging Het
Pramef17 A C 4: 143,991,956 (GRCm38) S306A possibly damaging Het
Qrich2 GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG 11: 116,457,541 (GRCm38) probably benign Het
Rbmxl1 A G 8: 78,505,623 (GRCm38) S364P unknown Het
Rnf24 T A 2: 131,303,496 (GRCm38) K131N probably benign Het
Scai T A 2: 39,123,022 (GRCm38) Q132L probably damaging Het
Sh3tc1 T C 5: 35,723,953 (GRCm38) R49G probably benign Het
Slc12a7 A G 13: 73,788,677 (GRCm38) E152G probably benign Het
Slc22a27 A T 19: 7,896,762 (GRCm38) M316K probably damaging Het
Spag1 G T 15: 36,210,710 (GRCm38) A427S probably benign Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm38) probably benign Het
Stk16 G T 1: 75,211,351 (GRCm38) C8F probably damaging Het
Syne2 T C 12: 75,942,848 (GRCm38) C1834R probably damaging Het
Tie1 C T 4: 118,478,857 (GRCm38) probably null Het
Timp2 A G 11: 118,303,895 (GRCm38) I156T probably damaging Het
Tmem163 A G 1: 127,491,610 (GRCm38) M286T possibly damaging Het
Tmx4 T A 2: 134,639,668 (GRCm38) M112L probably benign Het
Trank1 G T 9: 111,366,012 (GRCm38) E1035* probably null Het
Trim5 C T 7: 104,279,564 (GRCm38) V57M probably damaging Het
Ubr3 A G 2: 69,991,566 (GRCm38) S1391G probably benign Het
Vmn1r72 A T 7: 11,669,707 (GRCm38) S271R probably damaging Het
Xpo5 G A 17: 46,236,090 (GRCm38) probably null Het
Zfp592 A T 7: 81,025,193 (GRCm38) H635L probably damaging Het
Zfp791 A T 8: 85,112,215 (GRCm38) N62K probably benign Het
Zmynd11 G A 13: 9,695,139 (GRCm38) T248M probably damaging Het
Other mutations in Arhgef5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Arhgef5 APN 6 43,280,269 (GRCm38) nonsense probably null
IGL01341:Arhgef5 APN 6 43,283,991 (GRCm38) missense probably damaging 1.00
IGL01576:Arhgef5 APN 6 43,274,028 (GRCm38) missense probably benign 0.38
IGL01761:Arhgef5 APN 6 43,274,604 (GRCm38) missense probably benign 0.00
IGL02104:Arhgef5 APN 6 43,272,411 (GRCm38) missense probably damaging 0.99
IGL02208:Arhgef5 APN 6 43,275,130 (GRCm38) missense probably benign 0.11
IGL02487:Arhgef5 APN 6 43,283,982 (GRCm38) missense probably damaging 1.00
IGL02650:Arhgef5 APN 6 43,272,935 (GRCm38) nonsense probably null
IGL03292:Arhgef5 APN 6 43,280,246 (GRCm38) missense probably damaging 1.00
IGL03334:Arhgef5 APN 6 43,274,000 (GRCm38) missense possibly damaging 0.47
IGL03341:Arhgef5 APN 6 43,280,651 (GRCm38) missense probably damaging 0.99
R0047:Arhgef5 UTSW 6 43,265,621 (GRCm38) splice site probably null
R0206:Arhgef5 UTSW 6 43,273,341 (GRCm38) missense probably damaging 1.00
R0208:Arhgef5 UTSW 6 43,273,341 (GRCm38) missense probably damaging 1.00
R0698:Arhgef5 UTSW 6 43,273,341 (GRCm38) missense probably damaging 1.00
R1145:Arhgef5 UTSW 6 43,273,088 (GRCm38) missense possibly damaging 0.92
R1145:Arhgef5 UTSW 6 43,273,088 (GRCm38) missense possibly damaging 0.92
R1168:Arhgef5 UTSW 6 43,273,396 (GRCm38) missense probably benign 0.00
R1355:Arhgef5 UTSW 6 43,283,912 (GRCm38) missense probably damaging 1.00
R1370:Arhgef5 UTSW 6 43,283,912 (GRCm38) missense probably damaging 1.00
R1481:Arhgef5 UTSW 6 43,274,634 (GRCm38) missense probably damaging 0.99
R1529:Arhgef5 UTSW 6 43,279,515 (GRCm38) missense probably damaging 0.96
R1532:Arhgef5 UTSW 6 43,273,403 (GRCm38) missense probably benign
R1663:Arhgef5 UTSW 6 43,276,965 (GRCm38) missense probably damaging 1.00
R1742:Arhgef5 UTSW 6 43,280,199 (GRCm38) missense probably damaging 1.00
R1852:Arhgef5 UTSW 6 43,275,185 (GRCm38) missense probably benign 0.00
R1869:Arhgef5 UTSW 6 43,288,682 (GRCm38) missense probably damaging 1.00
R1880:Arhgef5 UTSW 6 43,273,088 (GRCm38) missense possibly damaging 0.92
R2146:Arhgef5 UTSW 6 43,283,318 (GRCm38) missense probably damaging 1.00
R2169:Arhgef5 UTSW 6 43,274,420 (GRCm38) missense probably benign 0.11
R3412:Arhgef5 UTSW 6 43,273,790 (GRCm38) missense probably benign
R4205:Arhgef5 UTSW 6 43,273,832 (GRCm38) missense possibly damaging 0.76
R4226:Arhgef5 UTSW 6 43,279,498 (GRCm38) missense probably damaging 1.00
R4227:Arhgef5 UTSW 6 43,279,498 (GRCm38) missense probably damaging 1.00
R4304:Arhgef5 UTSW 6 43,279,498 (GRCm38) missense probably damaging 1.00
R4308:Arhgef5 UTSW 6 43,279,498 (GRCm38) missense probably damaging 1.00
R4457:Arhgef5 UTSW 6 43,274,093 (GRCm38) missense probably damaging 1.00
R4469:Arhgef5 UTSW 6 43,275,099 (GRCm38) missense probably benign
R4636:Arhgef5 UTSW 6 43,274,942 (GRCm38) missense probably benign 0.11
R4791:Arhgef5 UTSW 6 43,283,183 (GRCm38) missense probably damaging 1.00
R4818:Arhgef5 UTSW 6 43,273,550 (GRCm38) missense probably benign 0.00
R4910:Arhgef5 UTSW 6 43,272,828 (GRCm38) missense probably benign 0.01
R4911:Arhgef5 UTSW 6 43,272,828 (GRCm38) missense probably benign 0.01
R5127:Arhgef5 UTSW 6 43,273,214 (GRCm38) missense probably damaging 0.99
R5209:Arhgef5 UTSW 6 43,273,700 (GRCm38) missense probably benign 0.01
R5245:Arhgef5 UTSW 6 43,265,680 (GRCm38) start gained probably benign
R5251:Arhgef5 UTSW 6 43,272,881 (GRCm38) missense possibly damaging 0.76
R5513:Arhgef5 UTSW 6 43,272,339 (GRCm38) missense probably damaging 0.96
R5613:Arhgef5 UTSW 6 43,274,063 (GRCm38) missense probably benign 0.01
R5616:Arhgef5 UTSW 6 43,275,940 (GRCm38) missense probably benign 0.20
R5817:Arhgef5 UTSW 6 43,275,104 (GRCm38) missense probably benign 0.15
R6024:Arhgef5 UTSW 6 43,275,134 (GRCm38) missense probably benign 0.00
R6735:Arhgef5 UTSW 6 43,275,032 (GRCm38) missense probably benign 0.01
R6825:Arhgef5 UTSW 6 43,274,961 (GRCm38) missense probably damaging 0.99
R6831:Arhgef5 UTSW 6 43,280,999 (GRCm38) missense probably damaging 1.00
R6901:Arhgef5 UTSW 6 43,273,298 (GRCm38) missense probably benign 0.00
R6932:Arhgef5 UTSW 6 43,274,417 (GRCm38) missense possibly damaging 0.94
R6968:Arhgef5 UTSW 6 43,275,342 (GRCm38) missense probably benign 0.00
R7018:Arhgef5 UTSW 6 43,288,731 (GRCm38) missense probably damaging 1.00
R7180:Arhgef5 UTSW 6 43,275,208 (GRCm38) missense possibly damaging 0.87
R7201:Arhgef5 UTSW 6 43,273,232 (GRCm38) nonsense probably null
R7358:Arhgef5 UTSW 6 43,279,573 (GRCm38) missense probably damaging 1.00
R7359:Arhgef5 UTSW 6 43,280,282 (GRCm38) missense probably damaging 1.00
R7468:Arhgef5 UTSW 6 43,280,671 (GRCm38) nonsense probably null
R7503:Arhgef5 UTSW 6 43,273,999 (GRCm38) missense probably benign 0.15
R7699:Arhgef5 UTSW 6 43,274,757 (GRCm38) missense probably benign 0.11
R7700:Arhgef5 UTSW 6 43,274,757 (GRCm38) missense probably benign 0.11
R7847:Arhgef5 UTSW 6 43,275,135 (GRCm38) nonsense probably null
R7950:Arhgef5 UTSW 6 43,273,925 (GRCm38) missense possibly damaging 0.76
R8161:Arhgef5 UTSW 6 43,283,951 (GRCm38) missense probably damaging 1.00
R8178:Arhgef5 UTSW 6 43,275,185 (GRCm38) missense probably benign 0.00
R8203:Arhgef5 UTSW 6 43,280,645 (GRCm38) missense probably damaging 1.00
R8318:Arhgef5 UTSW 6 43,275,999 (GRCm38) critical splice donor site probably null
R8857:Arhgef5 UTSW 6 43,287,624 (GRCm38) missense probably damaging 1.00
R9499:Arhgef5 UTSW 6 43,284,006 (GRCm38) missense
R9610:Arhgef5 UTSW 6 43,280,956 (GRCm38) missense probably damaging 0.99
R9611:Arhgef5 UTSW 6 43,280,956 (GRCm38) missense probably damaging 0.99
R9623:Arhgef5 UTSW 6 43,274,802 (GRCm38) missense possibly damaging 0.86
R9685:Arhgef5 UTSW 6 43,273,593 (GRCm38) missense probably benign 0.11
RF023:Arhgef5 UTSW 6 43,279,473 (GRCm38) missense probably damaging 1.00
X0028:Arhgef5 UTSW 6 43,273,701 (GRCm38) missense probably benign 0.03
X0065:Arhgef5 UTSW 6 43,272,408 (GRCm38) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CCCAGGTACATTGTTCCCAG -3'
(R):5'- TCACATGGCCCACAATGATG -3'

Sequencing Primer
(F):5'- TATTCCACAGATTCAGAAGGAGCCTG -3'
(R):5'- ACAATGATGTGGAGTGTCAGCTG -3'
Posted On 2019-11-26