Incidental Mutation 'R7468:Arhgef5'
ID 578942
Institutional Source Beutler Lab
Gene Symbol Arhgef5
Ensembl Gene ENSMUSG00000033542
Gene Name Rho guanine nucleotide exchange factor 5
Synonyms 2210412D05Rik
MMRRC Submission 045542-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7468 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 43242578-43266254 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 43257605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 1291 (K1291*)
Ref Sequence ENSEMBL: ENSMUSP00000031750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031750]
AlphaFold E9Q7D5
Predicted Effect probably null
Transcript: ENSMUST00000031750
AA Change: K1291*
SMART Domains Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: K1291*

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 null
Transcript: ENSMUST00000182924
AA Change: K559*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (86/88)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 T G 1: 156,450,104 (GRCm39) N90K possibly damaging Het
Acox1 T C 11: 116,069,001 (GRCm39) T415A possibly damaging Het
Acy1 T C 9: 106,314,921 (GRCm39) M1V probably null Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Alpk3 C A 7: 80,750,746 (GRCm39) Y1505* probably null Het
Ankrd17 T C 5: 90,390,902 (GRCm39) N2256S probably benign Het
Ankrd22 C A 19: 34,126,692 (GRCm39) C46F possibly damaging Het
Arl9 T A 5: 77,158,276 (GRCm39) Y119* probably null Het
Asb14 T C 14: 26,622,805 (GRCm39) V89A probably benign Het
Banp T G 8: 122,676,588 (GRCm39) probably null Het
Btn2a2 T C 13: 23,666,933 (GRCm39) N224S probably benign Het
C1ra C T 6: 124,499,403 (GRCm39) Q530* probably null Het
C2cd6 A C 1: 59,107,844 (GRCm39) S273A probably benign Het
Cd1d2 A T 3: 86,895,583 (GRCm39) probably null Het
Cdc42bpb T C 12: 111,306,307 (GRCm39) D132G probably damaging Het
Cfap45 C A 1: 172,362,877 (GRCm39) Y289* probably null Het
Chrdl2 T C 7: 99,659,332 (GRCm39) probably null Het
Cilk1 A G 9: 78,065,221 (GRCm39) K377R probably benign Het
Cst5 C T 2: 149,247,496 (GRCm39) L71F probably benign Het
Dcaf11 T C 14: 55,802,966 (GRCm39) F292L possibly damaging Het
Dgcr8 A G 16: 18,077,487 (GRCm39) F641S probably damaging Het
Dnm3 G A 1: 162,149,198 (GRCm39) probably null Het
Efcab3 G T 11: 104,640,526 (GRCm39) S1088I probably benign Het
Eral1 T C 11: 77,966,219 (GRCm39) K320E probably damaging Het
Eva1a A G 6: 82,069,002 (GRCm39) T110A possibly damaging Het
Fbxo42 A G 4: 140,926,917 (GRCm39) D399G possibly damaging Het
Frs2 T C 10: 116,910,007 (GRCm39) T452A possibly damaging Het
Git2 T A 5: 114,871,958 (GRCm39) D542V probably damaging Het
Grk2 T A 19: 4,356,063 (GRCm39) probably benign Het
Gsg1l2 A G 11: 67,676,110 (GRCm39) N158S possibly damaging Het
Hc T C 2: 34,918,063 (GRCm39) N740S probably benign Het
Hectd1 T C 12: 51,791,588 (GRCm39) probably null Het
Hemk1 A G 9: 107,208,288 (GRCm39) probably null Het
Hormad2 G T 11: 4,362,245 (GRCm39) Y126* probably null Het
Hr A G 14: 70,795,652 (GRCm39) E399G possibly damaging Het
Ilf3 C A 9: 21,314,707 (GRCm39) H780N unknown Het
Inpp5e A T 2: 26,298,161 (GRCm39) S147T probably benign Het
Irag2 C A 6: 145,119,427 (GRCm39) probably null Het
Jmjd6 T C 11: 116,733,275 (GRCm39) D134G probably damaging Het
Kif23 G T 9: 61,844,457 (GRCm39) Y120* probably null Het
Klk12 T A 7: 43,422,780 (GRCm39) Y236N probably damaging Het
Kmt5b C A 19: 3,852,799 (GRCm39) Y186* probably null Het
Krtap9-5 A G 11: 99,840,132 (GRCm39) T278A unknown Het
Lca5 T A 9: 83,305,509 (GRCm39) D99V probably damaging Het
Leng9 A G 7: 4,151,800 (GRCm39) V292A probably benign Het
Lime1 A G 2: 181,025,135 (GRCm39) R231G probably benign Het
Mctp2 T A 7: 71,861,438 (GRCm39) E402D probably damaging Het
Mrpl28 T A 17: 26,343,589 (GRCm39) S116R probably damaging Het
Muc15 A T 2: 110,561,862 (GRCm39) R99S probably benign Het
Myh2 G A 11: 67,083,368 (GRCm39) A1444T probably benign Het
Mynn T A 3: 30,657,825 (GRCm39) Y48N probably damaging Het
Myo1b A T 1: 51,836,639 (GRCm39) V274E possibly damaging Het
Nemp1 T A 10: 127,528,923 (GRCm39) M209K possibly damaging Het
Nlrc4 G T 17: 74,752,507 (GRCm39) D625E probably benign Het
Or10al6 C T 17: 38,082,910 (GRCm39) A122V probably damaging Het
Or11a4 T C 17: 37,536,276 (GRCm39) F87L probably benign Het
Or4p4 T C 2: 88,482,622 (GRCm39) L42P probably damaging Het
Otog T C 7: 45,913,543 (GRCm39) V792A probably benign Het
Paqr8 T C 1: 21,005,442 (GRCm39) Y199H probably damaging Het
Popdc3 A G 10: 45,191,117 (GRCm39) D76G probably damaging Het
Ppme1 T C 7: 99,991,069 (GRCm39) N210D probably benign Het
Prdm15 A C 16: 97,636,842 (GRCm39) Y158* probably null Het
Prrg2 A T 7: 44,709,687 (GRCm39) L70Q probably benign Het
Psmg4 C T 13: 34,361,966 (GRCm39) R85W probably damaging Het
Rab11fip4 A T 11: 79,580,478 (GRCm39) T437S probably benign Het
Rap2a T A 14: 120,716,338 (GRCm39) M67K probably damaging Het
Rnf123 A T 9: 107,946,208 (GRCm39) H322Q probably benign Het
Rxfp2 A T 5: 149,990,801 (GRCm39) T521S possibly damaging Het
Scrn2 T G 11: 96,923,992 (GRCm39) V292G possibly damaging Het
Serpina3n C A 12: 104,377,656 (GRCm39) P303H probably benign Het
Spop C T 11: 95,376,727 (GRCm39) T260M probably damaging Het
Surf2 G A 2: 26,809,354 (GRCm39) G224D probably benign Het
Synm T G 7: 67,382,971 (GRCm39) N669T unknown Het
Tmprss13 T C 9: 45,239,721 (GRCm39) S10P unknown Het
Trav9d-1 T A 14: 53,029,970 (GRCm39) S25T probably benign Het
Trpc3 A T 3: 36,678,565 (GRCm39) I840K probably damaging Het
Tsbp1 T A 17: 34,636,539 (GRCm39) probably null Het
Tssc4 C A 7: 142,622,999 (GRCm39) probably benign Het
Ttc39d G T 17: 80,523,579 (GRCm39) R79S possibly damaging Het
Txlnb T A 10: 17,675,082 (GRCm39) S78R probably damaging Het
Vmn1r142 T A 7: 21,862,784 (GRCm39) Q226L possibly damaging Het
Vmn1r230 T C 17: 21,067,146 (GRCm39) S112P probably damaging Het
Wrnip1 T C 13: 33,000,360 (GRCm39) F456L possibly damaging Het
Zc3h8 G T 2: 128,775,215 (GRCm39) H148Q probably benign Het
Zcchc3 A G 2: 152,256,615 (GRCm39) V28A probably benign Het
Zdbf2 T A 1: 63,346,669 (GRCm39) C1683S probably benign Het
Zfp874a T C 13: 67,573,723 (GRCm39) probably null Het
Zmym4 A G 4: 126,776,029 (GRCm39) S1260P probably benign 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
R7358:Arhgef5 UTSW 6 43,256,507 (GRCm39) missense probably damaging 1.00
R7359:Arhgef5 UTSW 6 43,257,216 (GRCm39) missense probably damaging 1.00
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'- TCTGGACCCTGTACATGGATTC -3'
(R):5'- GTCAGGGACATAGTTCCAAAAGC -3'

Sequencing Primer
(F):5'- GGACCCTGTACATGGATTCTCCTC -3'
(R):5'- GTTCCAAAAGCAATGAGTTCTGAG -3'
Posted On 2019-10-07