Incidental Mutation 'R6951:Arhgef3'
ID 541283
Institutional Source Beutler Lab
Gene Symbol Arhgef3
Ensembl Gene ENSMUSG00000021895
Gene Name Rho guanine nucleotide exchange factor 3
Synonyms 9830169H03Rik, C76747, 1200004I24Rik
MMRRC Submission 045063-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # R6951 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 26836856-27125868 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) A to T at 26865975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000225949]
AlphaFold Q91X46
Predicted Effect probably benign
Transcript: ENSMUST00000225949
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.0%
Validation Efficiency 100% (42/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd34a A G 3: 96,505,738 (GRCm39) N314S possibly damaging Het
Bmp1 T C 14: 70,746,298 (GRCm39) R114G probably benign Het
Cenpf A G 1: 189,385,989 (GRCm39) L2097P probably damaging Het
Cgas A G 9: 78,349,840 (GRCm39) V174A probably damaging Het
Dapk2 C G 9: 66,161,904 (GRCm39) R271G probably benign Het
Dnase2a A T 8: 85,636,254 (GRCm39) N130I possibly damaging Het
Dpp10 C T 1: 123,269,379 (GRCm39) V677M possibly damaging Het
Dsp G A 13: 38,351,622 (GRCm39) C147Y possibly damaging Het
Ecpas A G 4: 58,853,114 (GRCm39) probably null Het
Esyt2 A G 12: 116,287,750 (GRCm39) T223A probably benign Het
Fndc5 G A 4: 129,032,573 (GRCm39) V59I possibly damaging Het
Fsip2 A G 2: 82,812,293 (GRCm39) T2871A possibly damaging Het
H2-Eb1 A T 17: 34,528,831 (GRCm39) R121* probably null Het
Hydin A G 8: 111,124,757 (GRCm39) I589V probably benign Het
Kitl A G 10: 99,887,714 (GRCm39) I48V probably damaging Het
Large1 A G 8: 73,843,047 (GRCm39) S159P probably damaging Het
Lrba T C 3: 86,653,180 (GRCm39) L2570P probably benign Het
Mag G A 7: 30,610,858 (GRCm39) T128I possibly damaging Het
Mkrn3 G T 7: 62,068,881 (GRCm39) D303E possibly damaging Het
Myo9a A G 9: 59,802,051 (GRCm39) D1951G probably damaging Het
Nup85 C T 11: 115,473,781 (GRCm39) T565I possibly damaging Het
Or5l13 T C 2: 87,780,323 (GRCm39) I85V possibly damaging Het
Or8b1d A G 9: 38,558,170 (GRCm39) S217P probably damaging Het
Or8b43 A G 9: 38,360,234 (GRCm39) D22G probably benign Het
Or8k31-ps1 T C 2: 86,355,993 (GRCm39) H176R probably damaging Het
Pdzrn3 A T 6: 101,131,153 (GRCm39) probably null Het
Picalm T A 7: 89,840,583 (GRCm39) N434K probably damaging Het
Platr25 A C 13: 62,853,562 (GRCm39) D77E probably benign Het
Prr22 A T 17: 57,079,028 (GRCm39) R394* probably null Het
Psg23 A T 7: 18,348,636 (GRCm39) L57Q probably damaging Het
Rap1gap2 G A 11: 74,375,774 (GRCm39) S44L possibly damaging Het
Rffl A G 11: 82,736,576 (GRCm39) probably null Het
Stox2 G A 8: 47,656,167 (GRCm39) T103I probably damaging Het
Swt1 T C 1: 151,273,019 (GRCm39) N543S possibly damaging Het
Tep1 C T 14: 51,071,370 (GRCm39) probably null Het
Tln2 A G 9: 67,165,767 (GRCm39) Y1023H probably damaging Het
Tssk5 C A 15: 76,257,096 (GRCm39) R262L possibly damaging Het
Ttn C T 2: 76,710,986 (GRCm39) probably benign Het
Ubtfl1 A T 9: 18,320,873 (GRCm39) I134F probably benign Het
Unc80 T C 1: 66,687,670 (GRCm39) F2351S possibly damaging Het
Vps13a A T 19: 16,701,104 (GRCm39) D688E probably benign Het
Other mutations in Arhgef3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01363:Arhgef3 APN 14 27,123,876 (GRCm39) nonsense probably null
IGL02178:Arhgef3 APN 14 26,987,486 (GRCm39) nonsense probably null
IGL02302:Arhgef3 APN 14 27,084,799 (GRCm39) missense probably benign 0.08
IGL02505:Arhgef3 APN 14 27,115,957 (GRCm39) missense possibly damaging 0.92
IGL03203:Arhgef3 APN 14 27,116,073 (GRCm39) missense probably damaging 1.00
IGL03339:Arhgef3 APN 14 27,123,814 (GRCm39) missense probably damaging 0.99
R0762:Arhgef3 UTSW 14 27,119,584 (GRCm39) missense probably damaging 1.00
R1192:Arhgef3 UTSW 14 27,101,663 (GRCm39) missense probably damaging 1.00
R1572:Arhgef3 UTSW 14 27,123,692 (GRCm39) missense probably damaging 1.00
R1794:Arhgef3 UTSW 14 27,119,562 (GRCm39) missense probably benign 0.44
R2426:Arhgef3 UTSW 14 27,106,138 (GRCm39) nonsense probably null
R2509:Arhgef3 UTSW 14 27,101,633 (GRCm39) missense probably damaging 1.00
R4932:Arhgef3 UTSW 14 27,106,170 (GRCm39) missense probably damaging 0.99
R5017:Arhgef3 UTSW 14 26,987,487 (GRCm39) missense possibly damaging 0.85
R5216:Arhgef3 UTSW 14 27,123,799 (GRCm39) missense probably benign 0.00
R6562:Arhgef3 UTSW 14 26,874,953 (GRCm39) start gained probably benign
R7140:Arhgef3 UTSW 14 27,123,664 (GRCm39) missense probably damaging 1.00
R7361:Arhgef3 UTSW 14 26,987,535 (GRCm39) missense possibly damaging 0.56
R7968:Arhgef3 UTSW 14 27,116,062 (GRCm39) missense probably damaging 1.00
R7968:Arhgef3 UTSW 14 27,108,070 (GRCm39) missense probably damaging 0.99
R7988:Arhgef3 UTSW 14 27,123,743 (GRCm39) missense probably benign 0.22
R8042:Arhgef3 UTSW 14 27,084,766 (GRCm39) missense possibly damaging 0.85
R8077:Arhgef3 UTSW 14 27,107,881 (GRCm39) missense probably damaging 1.00
R8303:Arhgef3 UTSW 14 27,116,095 (GRCm39) missense probably damaging 0.99
R9199:Arhgef3 UTSW 14 27,122,244 (GRCm39) missense possibly damaging 0.82
R9365:Arhgef3 UTSW 14 27,101,555 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AACTTTGCCTTGTCAGGGGATC -3'
(R):5'- CGCTCTCAAGACAAGTCCATTTG -3'

Sequencing Primer
(F):5'- CAGGGGATCCAGTTTTAAAGCTTC -3'
(R):5'- CTCAAGACAAGTCCATTTGTGGGAAG -3'
Posted On 2018-11-28