Incidental Mutation 'R8857:Arhgef5'
ID 675406
Institutional Source Beutler Lab
Gene Symbol Arhgef5
Ensembl Gene ENSMUSG00000033542
Gene Name Rho guanine nucleotide exchange factor 5
Synonyms 2210412D05Rik
MMRRC Submission 068677-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8857 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 43242578-43266254 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43264558 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1523 (V1523A)
Ref Sequence ENSEMBL: ENSMUSP00000031750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031750]
AlphaFold E9Q7D5
Predicted Effect probably damaging
Transcript: ENSMUST00000031750
AA Change: V1523A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: V1523A

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: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 98% (65/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 G A 19: 57,119,287 (GRCm39) L266F possibly damaging Het
Adgrf3 A T 5: 30,402,065 (GRCm39) C654* probably null Het
Adgrl1 C A 8: 84,657,657 (GRCm39) A421D probably benign Het
Adra1b C G 11: 43,727,092 (GRCm39) probably benign Het
Apba2 T A 7: 64,399,939 (GRCm39) V710E possibly damaging Het
AW551984 G C 9: 39,511,831 (GRCm39) A60G probably damaging Het
Bdh1 A T 16: 31,265,450 (GRCm39) T42S probably benign Het
C130073F10Rik G A 4: 101,747,555 (GRCm39) P158L possibly damaging Het
Cacna2d4 A T 6: 119,248,909 (GRCm39) K457* probably null Het
Chd3 G A 11: 69,253,146 (GRCm39) P223L probably benign Het
Cnst T C 1: 179,437,878 (GRCm39) S481P probably damaging Het
Col6a3 T A 1: 90,703,485 (GRCm39) K3027N unknown Het
Csf2rb2 T C 15: 78,178,613 (GRCm39) D111G probably null Het
Disc1 A C 8: 125,891,870 (GRCm39) E641A probably damaging Het
Fbln5 C A 12: 101,726,990 (GRCm39) C320F probably damaging Het
Fbn2 G A 18: 58,286,933 (GRCm39) T242I probably damaging Het
Frem1 T A 4: 82,922,280 (GRCm39) probably benign Het
Gpsm1 G C 2: 26,230,457 (GRCm39) G469A possibly damaging Het
Hic1 A G 11: 75,056,228 (GRCm39) I887T probably benign Het
Hltf T C 3: 20,159,825 (GRCm39) V692A probably damaging Het
Hsd17b13 A G 5: 104,125,063 (GRCm39) L40P probably damaging Het
Hydin T C 8: 111,298,587 (GRCm39) probably null Het
Irf2bpl T C 12: 86,929,359 (GRCm39) Y438C possibly damaging Het
Itgb4 A T 11: 115,871,853 (GRCm39) N219I probably benign Het
Knop1 T C 7: 118,451,949 (GRCm39) K257E Het
Krtap19-5 A T 16: 88,693,139 (GRCm39) F58I unknown Het
L3mbtl2 T A 15: 81,571,320 (GRCm39) F709L unknown Het
Map1a G A 2: 121,138,098 (GRCm39) R2924H probably damaging Het
Mfsd13a A G 19: 46,356,567 (GRCm39) D224G probably benign Het
Mme A T 3: 63,256,070 (GRCm39) N510I probably damaging Het
Morc2a T A 11: 3,627,484 (GRCm39) probably null Het
Mptx2 T C 1: 173,102,452 (GRCm39) E79G probably benign Het
Nutm1 A G 2: 112,081,523 (GRCm39) M380T probably benign Het
Or5ac25 A T 16: 59,182,041 (GRCm39) I180N probably damaging Het
P2rx1 A G 11: 72,903,197 (GRCm39) probably benign Het
Padi4 A G 4: 140,501,472 (GRCm39) I7T probably damaging Het
Phf20l1 T C 15: 66,513,781 (GRCm39) S1013P probably benign Het
Plb1 T C 5: 32,521,556 (GRCm39) V1469A unknown Het
Polr1g C T 7: 19,093,355 (GRCm39) probably benign Het
Prkab1 T C 5: 116,158,147 (GRCm39) N150D probably damaging Het
Qsox1 A G 1: 155,658,333 (GRCm39) V412A possibly damaging Het
Rai1 A G 11: 60,077,393 (GRCm39) S486G probably benign Het
Rev3l T A 10: 39,670,965 (GRCm39) Y170* probably null Het
Rims2 T A 15: 39,543,044 (GRCm39) M1426K possibly damaging Het
Selenoi C A 5: 30,461,160 (GRCm39) S132* probably null Het
Shtn1 T C 19: 58,978,800 (GRCm39) I498M probably damaging Het
Sin3b T C 8: 73,483,523 (GRCm39) M970T probably benign Het
Slc17a8 A G 10: 89,427,022 (GRCm39) F360L probably damaging Het
Slc7a11 A G 3: 50,393,305 (GRCm39) Y113H probably damaging Het
Spast T A 17: 74,675,938 (GRCm39) M327K possibly damaging Het
Sphkap T A 1: 83,258,288 (GRCm39) I152F probably damaging Het
Tecpr1 T C 5: 144,153,117 (GRCm39) E204G possibly damaging Het
Tiam1 A T 16: 89,662,145 (GRCm39) S658T probably damaging Het
Tmem174 G T 13: 98,773,433 (GRCm39) H132Q probably damaging Het
Tnfrsf10b G A 14: 70,012,543 (GRCm39) V117I probably benign Het
Tnr A G 1: 159,713,728 (GRCm39) T719A probably benign Het
Tomm34 G A 2: 163,896,379 (GRCm39) P292S probably damaging Het
Trav15-1-dv6-1 T A 14: 53,797,615 (GRCm39) F88Y probably damaging Het
Trp63 A T 16: 25,639,226 (GRCm39) H138L probably damaging Het
U2af2 T A 7: 5,065,290 (GRCm39) S2T probably damaging Het
Uroc1 T C 6: 90,334,510 (GRCm39) V574A possibly damaging Het
Zc3h7b G A 15: 81,656,681 (GRCm39) R166Q probably benign Het
Zfp488 A C 14: 33,692,760 (GRCm39) S134R probably benign Het
Zfp950 T C 19: 61,116,001 (GRCm39) D2G probably benign Het
Zfyve1 T A 12: 83,598,374 (GRCm39) H618L probably damaging Het
Zp1 T G 19: 10,893,888 (GRCm39) D439A probably damaging 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
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
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'- GATCCCACACTTGTCTTTACCTCATG -3'
(R):5'- TTGGGGACGAAACTGCTCC -3'

Sequencing Primer
(F):5'- GTCTTTACCTCATGTCCTCCCATAC -3'
(R):5'- AGGCCCTTCCTAGAAGCTTAAGTTG -3'
Posted On 2021-07-15