Incidental Mutation 'R3412:Arhgef5'
ID 267764
Institutional Source Beutler Lab
Gene Symbol Arhgef5
Ensembl Gene ENSMUSG00000033542
Gene Name Rho guanine nucleotide exchange factor (GEF) 5
Synonyms 2210412D05Rik
MMRRC Submission 040630-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3412 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 43265582-43289320 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43273790 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 492 (I492V)
Ref Sequence ENSEMBL: ENSMUSP00000031750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031750]
AlphaFold E9Q7D5
Predicted Effect probably benign
Transcript: ENSMUST00000031750
AA Change: I492V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: I492V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183094
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183227
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203387
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 98% (40/41)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb2 T C 13: 8,752,618 (GRCm38) F643S probably damaging Het
Ap2a2 T A 7: 141,598,776 (GRCm38) N105K probably benign Het
Atp8b4 C A 2: 126,375,757 (GRCm38) W613L probably damaging Het
Ccdc162 T C 10: 41,539,549 (GRCm38) probably benign Het
Duxf4 G A 10: 58,236,353 (GRCm38) T13I possibly damaging Het
Esp24 T A 17: 39,038,316 (GRCm38) I11N possibly damaging Het
Exoc4 A G 6: 33,265,975 (GRCm38) E41G probably damaging Het
Eya1 T A 1: 14,274,209 (GRCm38) probably null Het
Gckr T A 5: 31,300,867 (GRCm38) probably null Het
Gria4 T A 9: 4,513,278 (GRCm38) D277V probably benign Het
Il18r1 A T 1: 40,491,067 (GRCm38) D318V probably damaging Het
Il4i1 T C 7: 44,836,658 (GRCm38) L22P probably damaging Het
Inpp5d C A 1: 87,668,057 (GRCm38) T175N possibly damaging Het
Krt90 T A 15: 101,560,593 (GRCm38) L171F probably damaging Het
Mthfd1 A G 12: 76,303,749 (GRCm38) probably null Het
Or51f5 T C 7: 102,774,755 (GRCm38) L77P possibly damaging Het
Or51q1 T C 7: 103,979,402 (GRCm38) L76P probably damaging Het
Or5an1c T C 19: 12,241,590 (GRCm38) I24V probably benign Het
Or6c1b A T 10: 129,437,307 (GRCm38) D165V probably damaging Het
Pla2g4f T C 2: 120,303,106 (GRCm38) S579G probably benign Het
Ppef2 T G 5: 92,228,722 (GRCm38) S649R probably damaging Het
Prss43 G C 9: 110,829,464 (GRCm38) Q277H probably damaging Het
Ramp2 TTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTG 11: 101,246,545 (GRCm38) probably benign Het
Rusc2 T G 4: 43,415,935 (GRCm38) S414A probably damaging Het
Sez6l A G 5: 112,475,361 (GRCm38) L108P possibly damaging Het
Slc12a5 A G 2: 164,968,431 (GRCm38) D10G probably benign Het
Slc1a7 A G 4: 108,010,994 (GRCm38) E497G probably benign Het
Sos1 T C 17: 80,406,717 (GRCm38) D1108G probably benign Het
Spag8 T A 4: 43,651,606 (GRCm38) S423C probably damaging Het
Tacc2 A G 7: 130,734,994 (GRCm38) T2369A probably benign Het
Taok2 T C 7: 126,870,858 (GRCm38) I933V possibly damaging Het
Tex9 C A 9: 72,477,758 (GRCm38) Q265H possibly damaging Het
Trim69 T C 2: 122,178,644 (GRCm38) V395A probably benign Het
Tusc1 C A 4: 93,334,936 (GRCm38) R162L probably damaging Het
Ubr5 T C 15: 38,004,235 (GRCm38) probably benign Het
Utp25 A C 1: 193,128,502 (GRCm38) S64R possibly damaging Het
Zfyve28 C T 5: 34,199,684 (GRCm38) M723I probably benign Het
Zmynd8 A T 2: 165,815,451 (GRCm38) M533K 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
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
R7737:Arhgef5 UTSW 6 43,273,794 (GRCm38) missense possibly damaging 0.84
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'- AGTCTCACATGGCCCACAATG -3'

Sequencing Primer
(F):5'- GCTGATATTCCACAGATTCAGAAGG -3'
(R):5'- ACAATGATGTGGAGTGTCAGCTG -3'
Posted On 2015-02-18