Incidental Mutation 'R9415:Arhgef15'
ID 712007
Institutional Source Beutler Lab
Gene Symbol Arhgef15
Ensembl Gene ENSMUSG00000052921
Gene Name Rho guanine nucleotide exchange factor 15
Synonyms D530030K12Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9415 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 68833981-68848306 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68842233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 457 (L457P)
Ref Sequence ENSEMBL: ENSMUSP00000067684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065040] [ENSMUST00000108671]
AlphaFold Q5FWH6
Predicted Effect probably damaging
Transcript: ENSMUST00000065040
AA Change: L457P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067684
Gene: ENSMUSG00000052921
AA Change: L457P

DomainStartEndE-ValueType
low complexity region 6 36 N/A INTRINSIC
low complexity region 65 79 N/A INTRINSIC
low complexity region 84 127 N/A INTRINSIC
low complexity region 202 221 N/A INTRINSIC
low complexity region 275 285 N/A INTRINSIC
low complexity region 335 349 N/A INTRINSIC
RhoGEF 429 608 1.76e-50 SMART
low complexity region 670 680 N/A INTRINSIC
Blast:RhoGEF 688 746 1e-22 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000108671
AA Change: L457P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104311
Gene: ENSMUSG00000052921
AA Change: L457P

DomainStartEndE-ValueType
low complexity region 6 36 N/A INTRINSIC
low complexity region 65 79 N/A INTRINSIC
low complexity region 84 127 N/A INTRINSIC
low complexity region 202 221 N/A INTRINSIC
low complexity region 275 285 N/A INTRINSIC
low complexity region 335 349 N/A INTRINSIC
RhoGEF 429 608 1.76e-50 SMART
low complexity region 670 680 N/A INTRINSIC
Blast:RhoGEF 688 746 1e-22 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency
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 that are initiated by extracellular stimuli that work through G protein-coupled receptors. This gene encodes a protein that functions as a specific guanine nucleotide exchange factor for RhoA. It also interacts with ephrin A4 in vascular smooth muscle cells. Two alternatively spliced transcripts variants that encode the same protein have been found for this gene. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock out allele exhibit increased excitatory synapse formation. Mice homozygous for a knock-out allele exhibit delayed radial growth, sparse vasculature and empty baselment membrane sleeves in the retina. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 A G 2: 128,476,598 (GRCm39) M1340T probably benign Het
Arih2 A T 9: 108,486,986 (GRCm39) C317S probably damaging Het
Asb14 A T 14: 26,633,793 (GRCm39) T333S probably damaging Het
Atp13a4 T C 16: 29,227,821 (GRCm39) N1012S Het
Capn9 C A 8: 125,332,449 (GRCm39) D429E probably benign Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cntrob C T 11: 69,193,741 (GRCm39) R803Q possibly damaging Het
Dnah8 A G 17: 31,029,297 (GRCm39) I4089V probably benign Het
Fam162b A G 10: 51,466,155 (GRCm39) probably null Het
Fhod3 A G 18: 25,102,244 (GRCm39) D180G probably damaging Het
Gtf3c4 A G 2: 28,723,966 (GRCm39) S589P possibly damaging Het
Jcad T C 18: 4,673,912 (GRCm39) L558P probably damaging Het
Kmt2d A G 15: 98,737,586 (GRCm39) I5170T unknown Het
Lamb3 T C 1: 193,008,319 (GRCm39) F251L probably benign Het
Lpxn T A 19: 12,802,336 (GRCm39) D220E probably benign Het
Mex3a T A 3: 88,444,480 (GRCm39) F519I probably damaging Het
Mfap1a T C 2: 121,337,001 (GRCm39) M8V probably benign Het
Mical3 T A 6: 120,934,712 (GRCm39) D1789V probably damaging Het
Mpdz G A 4: 81,235,905 (GRCm39) Q1211* probably null Het
Myd88 A G 9: 119,167,070 (GRCm39) probably null Het
Myof T A 19: 37,941,412 (GRCm39) K799N probably damaging Het
Naip2 T A 13: 100,298,243 (GRCm39) S598C probably damaging Het
Ndst4 C T 3: 125,518,385 (GRCm39) S354L probably benign Het
Ntn4 A G 10: 93,480,488 (GRCm39) T71A probably benign Het
Omd A C 13: 49,745,837 (GRCm39) M416L probably benign Het
Oog1 G C 12: 87,655,086 (GRCm39) L411F probably damaging Het
Or10a3m T A 7: 108,313,042 (GRCm39) W161R probably damaging Het
Or1e32 A G 11: 73,705,143 (GRCm39) I255T probably damaging Het
Or56a5 T G 7: 104,793,498 (GRCm39) M7L probably benign Het
Or7e171-ps1 A G 9: 19,853,200 (GRCm39) W179R probably benign Het
Pde4dip T C 3: 97,660,468 (GRCm39) Q670R possibly damaging Het
Pex13 C A 11: 23,601,034 (GRCm39) G272V probably damaging Het
Pfkl A T 10: 77,824,081 (GRCm39) V769D probably damaging Het
Pkn3 A G 2: 29,968,332 (GRCm39) Y10C probably benign Het
Pomgnt1 A G 4: 116,013,378 (GRCm39) H500R probably damaging Het
Rasef T C 4: 73,645,882 (GRCm39) T496A probably benign Het
Rgs6 A G 12: 83,184,166 (GRCm39) S459G probably benign Het
Serpinb6b A T 13: 33,159,002 (GRCm39) M187L Het
Shcbp1l A G 1: 153,321,627 (GRCm39) I408M possibly damaging Het
Slc25a45 T C 19: 5,934,967 (GRCm39) V272A probably damaging Het
Tlr4 T C 4: 66,746,160 (GRCm39) probably null Het
Unc80 A T 1: 66,550,064 (GRCm39) N774I Het
Urb2 T A 8: 124,756,613 (GRCm39) S773R possibly damaging Het
Vmn1r35 A T 6: 66,656,115 (GRCm39) V185E probably damaging Het
Vps13d A C 4: 144,796,527 (GRCm39) V3691G Het
Wdtc1 A G 4: 133,022,684 (GRCm39) V554A possibly damaging Het
Xrn1 A T 9: 95,851,527 (GRCm39) M182L probably damaging Het
Zfp747 T C 7: 126,973,198 (GRCm39) H324R possibly damaging Het
Other mutations in Arhgef15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Arhgef15 APN 11 68,844,928 (GRCm39) missense probably damaging 1.00
IGL02382:Arhgef15 APN 11 68,844,856 (GRCm39) missense probably damaging 0.98
R0041:Arhgef15 UTSW 11 68,845,342 (GRCm39) missense possibly damaging 0.92
R0208:Arhgef15 UTSW 11 68,837,199 (GRCm39) missense probably benign 0.09
R0276:Arhgef15 UTSW 11 68,844,298 (GRCm39) splice site probably benign
R0368:Arhgef15 UTSW 11 68,845,519 (GRCm39) missense probably damaging 0.99
R0706:Arhgef15 UTSW 11 68,845,402 (GRCm39) missense probably damaging 1.00
R1628:Arhgef15 UTSW 11 68,835,640 (GRCm39) missense possibly damaging 0.86
R1966:Arhgef15 UTSW 11 68,845,501 (GRCm39) missense probably damaging 1.00
R2105:Arhgef15 UTSW 11 68,838,507 (GRCm39) splice site probably null
R2278:Arhgef15 UTSW 11 68,842,517 (GRCm39) missense probably damaging 1.00
R4667:Arhgef15 UTSW 11 68,845,387 (GRCm39) missense probably benign 0.00
R4836:Arhgef15 UTSW 11 68,840,751 (GRCm39) intron probably benign
R4898:Arhgef15 UTSW 11 68,842,171 (GRCm39) missense probably benign 0.00
R4966:Arhgef15 UTSW 11 68,838,143 (GRCm39) missense probably benign 0.08
R5304:Arhgef15 UTSW 11 68,838,063 (GRCm39) missense probably null 0.32
R5333:Arhgef15 UTSW 11 68,838,022 (GRCm39) intron probably benign
R5546:Arhgef15 UTSW 11 68,844,877 (GRCm39) missense probably benign 0.01
R5632:Arhgef15 UTSW 11 68,844,877 (GRCm39) missense probably benign 0.01
R5707:Arhgef15 UTSW 11 68,845,541 (GRCm39) missense probably damaging 0.98
R5839:Arhgef15 UTSW 11 68,844,982 (GRCm39) missense probably benign 0.00
R5926:Arhgef15 UTSW 11 68,842,781 (GRCm39) missense possibly damaging 0.76
R6376:Arhgef15 UTSW 11 68,845,796 (GRCm39) missense unknown
R6429:Arhgef15 UTSW 11 68,838,622 (GRCm39) missense probably damaging 1.00
R6526:Arhgef15 UTSW 11 68,840,820 (GRCm39) missense probably damaging 1.00
R6749:Arhgef15 UTSW 11 68,845,383 (GRCm39) missense probably damaging 0.99
R7460:Arhgef15 UTSW 11 68,837,861 (GRCm39) missense probably damaging 1.00
R7529:Arhgef15 UTSW 11 68,844,848 (GRCm39) missense probably damaging 1.00
R7598:Arhgef15 UTSW 11 68,837,236 (GRCm39) missense probably damaging 1.00
R7767:Arhgef15 UTSW 11 68,844,673 (GRCm39) missense probably damaging 0.99
R7919:Arhgef15 UTSW 11 68,838,431 (GRCm39) missense probably benign 0.00
R8488:Arhgef15 UTSW 11 68,838,496 (GRCm39) critical splice acceptor site probably null
R8818:Arhgef15 UTSW 11 68,841,938 (GRCm39) missense probably damaging 0.99
R9663:Arhgef15 UTSW 11 68,845,255 (GRCm39) missense probably damaging 1.00
X0067:Arhgef15 UTSW 11 68,835,656 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- GCTAAGCATTAACTGGGTCAGTG -3'
(R):5'- AAACACTCTGTGGCAGGAGC -3'

Sequencing Primer
(F):5'- GCATTAACTGGGTCAGTGAAAGG -3'
(R):5'- TTAGAGAGTCTAAGCCCCCAGG -3'
Posted On 2022-05-16