Incidental Mutation 'R2426:Arhgef3'
ID 250244
Institutional Source Beutler Lab
Gene Symbol Arhgef3
Ensembl Gene ENSMUSG00000021895
Gene Name Rho guanine nucleotide exchange factor (GEF) 3
Synonyms 9830169H03Rik, 1200004I24Rik, C76747
MMRRC Submission 040388-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R2426 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 27114899-27403911 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 27384181 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 161 (E161*)
Ref Sequence ENSEMBL: ENSMUSP00000153396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049206] [ENSMUST00000224981] [ENSMUST00000225949]
AlphaFold Q91X46
Predicted Effect probably null
Transcript: ENSMUST00000049206
AA Change: E141*
SMART Domains Protein: ENSMUSP00000046486
Gene: ENSMUSG00000021895
AA Change: E141*

RhoGEF 132 309 4.11e-51 SMART
PH 318 457 3.26e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175293
Predicted Effect probably null
Transcript: ENSMUST00000224981
AA Change: E134*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225494
Predicted Effect probably null
Transcript: ENSMUST00000225949
AA Change: E161*
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased mean platelet volume and a mild delay in platelet recovery in response to thrombocytopenia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G T 7: 120,283,223 (GRCm38) V1203L probably benign Het
Adamtsl1 G A 4: 86,156,788 (GRCm38) V131I probably benign Het
Adgra3 A T 5: 50,009,449 (GRCm38) M187K possibly damaging Het
Agbl1 T C 7: 76,421,902 (GRCm38) V324A probably damaging Het
Ahnak A T 19: 9,002,851 (GRCm38) I500F possibly damaging Het
Aldh1l1 A G 6: 90,598,284 (GRCm38) D851G probably damaging Het
Amot T C X: 145,476,291 (GRCm38) K460E probably damaging Het
Atg9b A T 5: 24,386,994 (GRCm38) I669N probably damaging Het
Ccdc83 A G 7: 90,228,431 (GRCm38) Y268H probably damaging Het
Cep170 A G 1: 176,774,635 (GRCm38) S302P probably benign Het
Cyp4a31 T A 4: 115,571,016 (GRCm38) M303K probably damaging Het
Cyp4v3 T A 8: 45,317,776 (GRCm38) Y231F probably benign Het
Defa39 T G 8: 21,702,637 (GRCm38) K114N possibly damaging Het
Dock3 A T 9: 106,914,541 (GRCm38) L1411Q possibly damaging Het
Dsg1a T A 18: 20,336,804 (GRCm38) I629N probably damaging Het
Dst A T 1: 34,192,812 (GRCm38) H2837L probably benign Het
Fam114a2 G A 11: 57,493,080 (GRCm38) P343L probably benign Het
Fbrs A G 7: 127,487,339 (GRCm38) probably null Het
Fbxl13 A C 5: 21,522,137 (GRCm38) D620E probably damaging Het
Frmd4a T A 2: 4,529,862 (GRCm38) S164T probably damaging Het
Gdi2 T G 13: 3,562,034 (GRCm38) S330A probably benign Het
Gm5878 A T 6: 85,118,631 (GRCm38) M70K probably benign Het
H2-Q6 G T 17: 35,424,937 (GRCm38) A21S probably benign Het
Hfm1 A T 5: 106,847,653 (GRCm38) probably null Het
Hnmt C T 2: 24,019,155 (GRCm38) C82Y probably benign Het
Il1rl1 C A 1: 40,446,619 (GRCm38) A310D probably damaging Het
Ints1 A T 5: 139,771,814 (GRCm38) probably null Het
Kcne4 C A 1: 78,817,971 (GRCm38) A112E possibly damaging Het
Krt32 T C 11: 100,086,366 (GRCm38) K236R possibly damaging Het
Maml2 T C 9: 13,706,498 (GRCm38) L380P probably damaging Het
Meis1 A T 11: 18,988,356 (GRCm38) D218E possibly damaging Het
Mon1b G A 8: 113,639,120 (GRCm38) G360D probably damaging Het
Mpp4 A G 1: 59,130,057 (GRCm38) S383P probably damaging Het
Neb A G 2: 52,169,053 (GRCm38) probably null Het
Nlgn2 A T 11: 69,827,086 (GRCm38) I431N probably damaging Het
Nr2e1 A G 10: 42,563,485 (GRCm38) L134P probably damaging Het
Olfr329-ps A T 11: 58,543,094 (GRCm38) Y127* probably null Het
Opcml G A 9: 28,903,367 (GRCm38) probably null Het
Or6c207 T C 10: 129,269,266 (GRCm38) Q19R probably benign Het
Or7c19 T C 8: 85,231,064 (GRCm38) S190P probably damaging Het
Pate2 A T 9: 35,670,480 (GRCm38) probably null Het
Pgr G A 9: 8,900,717 (GRCm38) V84M probably damaging Het
Pigu A T 2: 155,299,082 (GRCm38) V296D probably damaging Het
Plcb2 G A 2: 118,715,649 (GRCm38) T555M probably damaging Het
Pld5 T G 1: 175,963,976 (GRCm38) D426A probably benign Het
Prdm2 G T 4: 143,111,750 (GRCm38) C1679* probably null Het
Psme2b A T 11: 48,946,063 (GRCm38) V19D probably benign Het
Ptpn9 A T 9: 57,027,428 (GRCm38) N159Y possibly damaging Het
Sanbr T A 11: 23,576,801 (GRCm38) R190W probably damaging Het
Sdc3 A T 4: 130,818,803 (GRCm38) T64S unknown Het
Serping1 T G 2: 84,770,219 (GRCm38) S260R probably damaging Het
Slc20a1 T C 2: 129,208,230 (GRCm38) F436S probably benign Het
Sntb1 A T 15: 55,906,179 (GRCm38) I138N probably damaging Het
Sorcs3 A T 19: 48,722,925 (GRCm38) Y643F probably damaging Het
Spink1 G T 18: 43,735,222 (GRCm38) S23* probably null Het
Stag1 T C 9: 100,845,116 (GRCm38) probably null Het
Tnfaip8l1 G A 17: 56,172,030 (GRCm38) V107I probably benign Het
Tnik A G 3: 28,646,681 (GRCm38) S907G probably damaging Het
Ttf1 T A 2: 29,067,185 (GRCm38) M489K probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm38) P46S probably benign Het
Usp54 G A 14: 20,564,940 (GRCm38) A811V probably benign Het
Xirp2 A G 2: 67,514,471 (GRCm38) N2352S probably benign Het
Zan T C 5: 137,388,992 (GRCm38) Y4933C unknown Het
Zbtb8a A G 4: 129,360,219 (GRCm38) S161P probably benign Het
Zkscan5 A T 5: 145,220,940 (GRCm38) I751L probably benign Het
Zscan4d A G 7: 11,165,095 (GRCm38) F85S probably damaging Het
Zzef1 A G 11: 72,915,265 (GRCm38) M2647V probably benign Het
Other mutations in Arhgef3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01363:Arhgef3 APN 14 27,401,919 (GRCm38) nonsense probably null
IGL02178:Arhgef3 APN 14 27,265,529 (GRCm38) nonsense probably null
IGL02302:Arhgef3 APN 14 27,362,842 (GRCm38) missense probably benign 0.08
IGL02505:Arhgef3 APN 14 27,394,000 (GRCm38) missense possibly damaging 0.92
IGL03203:Arhgef3 APN 14 27,394,116 (GRCm38) missense probably damaging 1.00
IGL03339:Arhgef3 APN 14 27,401,857 (GRCm38) missense probably damaging 0.99
R0762:Arhgef3 UTSW 14 27,397,627 (GRCm38) missense probably damaging 1.00
R1192:Arhgef3 UTSW 14 27,379,706 (GRCm38) missense probably damaging 1.00
R1572:Arhgef3 UTSW 14 27,401,735 (GRCm38) missense probably damaging 1.00
R1794:Arhgef3 UTSW 14 27,397,605 (GRCm38) missense probably benign 0.44
R2509:Arhgef3 UTSW 14 27,379,676 (GRCm38) missense probably damaging 1.00
R4932:Arhgef3 UTSW 14 27,384,213 (GRCm38) missense probably damaging 0.99
R5017:Arhgef3 UTSW 14 27,265,530 (GRCm38) missense possibly damaging 0.85
R5216:Arhgef3 UTSW 14 27,401,842 (GRCm38) missense probably benign 0.00
R6562:Arhgef3 UTSW 14 27,152,996 (GRCm38) start gained probably benign
R6951:Arhgef3 UTSW 14 27,144,018 (GRCm38) start gained probably benign
R7140:Arhgef3 UTSW 14 27,401,707 (GRCm38) missense probably damaging 1.00
R7361:Arhgef3 UTSW 14 27,265,578 (GRCm38) missense possibly damaging 0.56
R7968:Arhgef3 UTSW 14 27,394,105 (GRCm38) missense probably damaging 1.00
R7968:Arhgef3 UTSW 14 27,386,113 (GRCm38) missense probably damaging 0.99
R7988:Arhgef3 UTSW 14 27,401,786 (GRCm38) missense probably benign 0.22
R8042:Arhgef3 UTSW 14 27,362,809 (GRCm38) missense possibly damaging 0.85
R8077:Arhgef3 UTSW 14 27,385,924 (GRCm38) missense probably damaging 1.00
R8303:Arhgef3 UTSW 14 27,394,138 (GRCm38) missense probably damaging 0.99
R9199:Arhgef3 UTSW 14 27,400,287 (GRCm38) missense possibly damaging 0.82
R9365:Arhgef3 UTSW 14 27,379,598 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-11-12