Incidental Mutation 'R9733:Arhgef12'
ID 731557
Institutional Source Beutler Lab
Gene Symbol Arhgef12
Ensembl Gene ENSMUSG00000059495
Gene Name Rho guanine nucleotide exchange factor 12
Synonyms 2310014B11Rik, LARG
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.931) question?
Stock # R9733 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 42875138-43017069 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 42901294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 836 (L836*)
Ref Sequence ENSEMBL: ENSMUSP00000126598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072767] [ENSMUST00000165665]
AlphaFold Q8R4H2
Predicted Effect probably null
Transcript: ENSMUST00000072767
AA Change: L835*
SMART Domains Protein: ENSMUSP00000072547
Gene: ENSMUSG00000059495
AA Change: L835*

DomainStartEndE-ValueType
low complexity region 49 64 N/A INTRINSIC
PDZ 80 148 1.64e-19 SMART
coiled coil region 196 259 N/A INTRINSIC
low complexity region 293 313 N/A INTRINSIC
Pfam:RGS-like 368 558 8.6e-87 PFAM
low complexity region 583 596 N/A INTRINSIC
low complexity region 663 676 N/A INTRINSIC
low complexity region 721 733 N/A INTRINSIC
RhoGEF 791 976 6.35e-66 SMART
PH 1020 1134 6.26e-6 SMART
low complexity region 1256 1269 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000165665
AA Change: L836*
SMART Domains Protein: ENSMUSP00000126598
Gene: ENSMUSG00000059495
AA Change: L836*

DomainStartEndE-ValueType
low complexity region 49 64 N/A INTRINSIC
PDZ 80 148 1.64e-19 SMART
coiled coil region 196 259 N/A INTRINSIC
low complexity region 293 313 N/A INTRINSIC
Pfam:RGS-like 369 559 1.6e-88 PFAM
low complexity region 584 597 N/A INTRINSIC
low complexity region 664 677 N/A INTRINSIC
low complexity region 722 734 N/A INTRINSIC
RhoGEF 792 977 6.35e-66 SMART
PH 1021 1135 6.26e-6 SMART
low complexity region 1257 1270 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.3%
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 working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased sensitivity to certain vasoconstrictors and resistance to salt-induced hypertension. Mice homozygous for a different knock-out allele exhibit partial prenatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik C T 14: 15,712,825 (GRCm39) probably benign Het
4930595D18Rik T A 12: 111,128,254 (GRCm39) probably benign Het
Adam34l T C 8: 44,079,186 (GRCm39) N346S possibly damaging Het
Alpi C T 1: 87,028,516 (GRCm39) A125T probably benign Het
Alppl2 T A 1: 87,014,957 (GRCm39) H468L probably damaging Het
Arv1 T C 8: 125,458,658 (GRCm39) Y261H probably damaging Het
Atf6 C T 1: 170,662,402 (GRCm39) S286N probably benign Het
Atl3 G A 19: 7,509,705 (GRCm39) G478R probably damaging Het
Avil C T 10: 126,843,711 (GRCm39) R184C probably damaging Het
Bcl6b A G 11: 70,119,323 (GRCm39) I131T probably damaging Het
Bltp1 T A 3: 37,102,732 (GRCm39) M1437K Het
Catsper3 T C 13: 55,946,752 (GRCm39) S150P probably damaging Het
Cd7 A G 11: 120,928,637 (GRCm39) S132P probably benign Het
Cfh T C 1: 140,016,533 (GRCm39) D1142G probably damaging Het
Clca4b T G 3: 144,621,272 (GRCm39) K601Q probably benign Het
Cp A G 3: 20,033,126 (GRCm39) H651R probably damaging Het
Cyp2s1 T A 7: 25,507,529 (GRCm39) T307S probably damaging Het
Dcaf11 A G 14: 55,803,170 (GRCm39) D328G probably damaging Het
Eapp A T 12: 54,739,741 (GRCm39) S25R probably damaging Het
Ebag9 T A 15: 44,491,033 (GRCm39) probably null Het
Exog G A 9: 119,291,586 (GRCm39) E288K possibly damaging Het
Fads2 A T 19: 10,047,940 (GRCm39) Y265N probably damaging Het
Fam234b T A 6: 135,194,008 (GRCm39) S220R possibly damaging Het
Fcgbp T A 7: 27,803,012 (GRCm39) C1539S probably damaging Het
Fcsk T C 8: 111,615,563 (GRCm39) T589A probably benign Het
Fv1 C T 4: 147,954,621 (GRCm39) R396W probably damaging Het
Fv1 T C 4: 147,954,654 (GRCm39) F407L probably benign Het
Glp2r T C 11: 67,648,367 (GRCm39) T112A probably benign Het
Hydin T C 8: 111,262,011 (GRCm39) I2704T probably benign Het
Ighm T A 12: 113,386,097 (GRCm39) E84D probably benign Het
Ikzf5 A G 7: 130,994,012 (GRCm39) V205A probably benign Het
Kcnt1 G T 2: 25,797,351 (GRCm39) V844L probably benign Het
Kif2a A C 13: 107,106,304 (GRCm39) S528R probably damaging Het
Klhl29 G A 12: 5,190,641 (GRCm39) T118M probably damaging Het
Krt4 C A 15: 101,827,564 (GRCm39) G492C unknown Het
Lama1 T A 17: 68,116,940 (GRCm39) I2441N Het
Lin7a T C 10: 107,247,905 (GRCm39) V192A possibly damaging Het
Marchf8 T A 6: 116,378,990 (GRCm39) V308D probably damaging Het
Mgat5b T C 11: 116,838,074 (GRCm39) S238P possibly damaging Het
Mrps25 A G 6: 92,155,715 (GRCm39) S73P probably damaging Het
Muc6 G T 7: 141,216,310 (GRCm39) P2788T unknown Het
Ncf1 T C 5: 134,250,899 (GRCm39) T347A probably benign Het
Ndufaf4 T C 4: 24,903,177 (GRCm39) M122T probably benign Het
Nfil3 C T 13: 53,121,591 (GRCm39) A438T probably damaging Het
Noc2l T G 4: 156,328,022 (GRCm39) I504S probably damaging Het
Nphs1 T C 7: 30,166,955 (GRCm39) C735R probably damaging Het
Or10g6 A T 9: 39,934,171 (GRCm39) S161C probably benign Het
Or2y10 T C 11: 49,454,961 (GRCm39) L71P probably damaging Het
Or5d38 C A 2: 87,955,000 (GRCm39) V110L probably damaging Het
Or6b9 A C 7: 106,555,846 (GRCm39) L99R possibly damaging Het
Pcdhac1 A G 18: 37,225,506 (GRCm39) H773R probably benign Het
Pcnt A G 10: 76,237,314 (GRCm39) V1324A probably benign Het
Pcsk4 T C 10: 80,158,034 (GRCm39) Y568C probably damaging Het
Pdlim1 A T 19: 40,219,040 (GRCm39) M197K probably damaging Het
Plekho1 C T 3: 95,903,091 (GRCm39) G7S probably benign Het
Pramel17 A G 4: 101,692,965 (GRCm39) V345A possibly damaging Het
Prl7d1 A C 13: 27,898,339 (GRCm39) S57A probably benign Het
Prpf3 A G 3: 95,741,512 (GRCm39) V548A possibly damaging Het
Prss56 C T 1: 87,111,219 (GRCm39) P2L possibly damaging Het
Ric1 A G 19: 29,580,030 (GRCm39) D1277G possibly damaging Het
Rnf19b T A 4: 128,977,812 (GRCm39) D676E probably damaging Het
Rph3a T A 5: 121,100,521 (GRCm39) T126S probably benign Het
Sh3gl3 T C 7: 81,917,562 (GRCm39) probably null Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Slc35f2 T C 9: 53,708,385 (GRCm39) V126A probably benign Het
Snrnp200 A T 2: 127,068,240 (GRCm39) Q860L probably damaging Het
Srbd1 T C 17: 86,422,711 (GRCm39) N435S probably damaging Het
Tab2 A G 10: 7,795,214 (GRCm39) S349P possibly damaging Het
Tie1 A T 4: 118,330,183 (GRCm39) W1040R probably null Het
Tnni3k A T 3: 154,562,244 (GRCm39) Y678N probably damaging Het
Trav12-3 T C 14: 53,859,474 (GRCm39) V40A possibly damaging Het
Ttn G A 2: 76,576,379 (GRCm39) S24838L probably damaging Het
Ttn A G 2: 76,725,660 (GRCm39) W6158R unknown Het
Vegfa T C 17: 46,335,401 (GRCm39) S298G probably damaging Het
Zer1 T C 2: 29,997,643 (GRCm39) K421R probably benign Het
Zfp959 C A 17: 56,204,866 (GRCm39) T301N probably benign Het
Other mutations in Arhgef12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00923:Arhgef12 APN 9 42,931,920 (GRCm39) missense probably damaging 1.00
IGL00942:Arhgef12 APN 9 42,893,296 (GRCm39) missense probably damaging 1.00
IGL01529:Arhgef12 APN 9 42,901,351 (GRCm39) missense probably damaging 1.00
IGL01845:Arhgef12 APN 9 42,934,137 (GRCm39) missense possibly damaging 0.56
IGL02039:Arhgef12 APN 9 42,883,563 (GRCm39) missense probably benign
IGL02135:Arhgef12 APN 9 42,883,461 (GRCm39) missense possibly damaging 0.68
IGL02272:Arhgef12 APN 9 42,912,748 (GRCm39) missense probably damaging 1.00
IGL02498:Arhgef12 APN 9 42,893,339 (GRCm39) missense probably benign 0.19
IGL02507:Arhgef12 APN 9 42,903,859 (GRCm39) missense probably damaging 1.00
IGL02574:Arhgef12 APN 9 42,916,919 (GRCm39) missense probably damaging 0.99
IGL02586:Arhgef12 APN 9 42,917,200 (GRCm39) nonsense probably null
IGL02803:Arhgef12 APN 9 42,883,324 (GRCm39) missense possibly damaging 0.48
IGL02892:Arhgef12 APN 9 42,912,268 (GRCm39) missense possibly damaging 0.79
IGL02937:Arhgef12 APN 9 42,927,216 (GRCm39) missense probably damaging 0.97
IGL02992:Arhgef12 APN 9 42,910,373 (GRCm39) missense probably damaging 1.00
IGL03028:Arhgef12 APN 9 42,937,524 (GRCm39) missense possibly damaging 0.84
IGL03146:Arhgef12 APN 9 42,885,866 (GRCm39) missense possibly damaging 0.90
IGL03193:Arhgef12 APN 9 42,903,829 (GRCm39) splice site probably benign
IGL03398:Arhgef12 APN 9 42,889,522 (GRCm39) missense probably damaging 1.00
R0019:Arhgef12 UTSW 9 42,889,529 (GRCm39) missense probably damaging 1.00
R0143:Arhgef12 UTSW 9 42,916,890 (GRCm39) missense probably damaging 1.00
R0211:Arhgef12 UTSW 9 42,883,300 (GRCm39) missense probably damaging 0.97
R0330:Arhgef12 UTSW 9 42,931,982 (GRCm39) missense probably damaging 0.97
R0364:Arhgef12 UTSW 9 42,929,697 (GRCm39) missense probably damaging 0.99
R0426:Arhgef12 UTSW 9 42,882,286 (GRCm39) splice site probably null
R0658:Arhgef12 UTSW 9 42,893,281 (GRCm39) missense probably damaging 1.00
R0686:Arhgef12 UTSW 9 42,904,324 (GRCm39) missense probably benign 0.02
R0693:Arhgef12 UTSW 9 42,929,697 (GRCm39) missense probably damaging 0.99
R0990:Arhgef12 UTSW 9 42,883,677 (GRCm39) missense probably benign 0.00
R1147:Arhgef12 UTSW 9 42,955,552 (GRCm39) unclassified probably benign
R1395:Arhgef12 UTSW 9 42,917,166 (GRCm39) missense probably damaging 1.00
R1419:Arhgef12 UTSW 9 42,938,516 (GRCm39) missense probably damaging 1.00
R1451:Arhgef12 UTSW 9 42,903,874 (GRCm39) splice site probably benign
R1458:Arhgef12 UTSW 9 42,900,294 (GRCm39) missense probably damaging 0.98
R1654:Arhgef12 UTSW 9 42,908,956 (GRCm39) missense possibly damaging 0.83
R1722:Arhgef12 UTSW 9 42,932,013 (GRCm39) makesense probably null
R1773:Arhgef12 UTSW 9 42,916,838 (GRCm39) critical splice donor site probably null
R1895:Arhgef12 UTSW 9 42,917,152 (GRCm39) missense probably damaging 1.00
R2109:Arhgef12 UTSW 9 42,890,768 (GRCm39) missense possibly damaging 0.75
R2215:Arhgef12 UTSW 9 42,917,167 (GRCm39) missense probably damaging 1.00
R2421:Arhgef12 UTSW 9 42,912,302 (GRCm39) missense probably damaging 1.00
R3967:Arhgef12 UTSW 9 42,916,847 (GRCm39) missense probably damaging 1.00
R3968:Arhgef12 UTSW 9 42,916,847 (GRCm39) missense probably damaging 1.00
R3969:Arhgef12 UTSW 9 42,916,847 (GRCm39) missense probably damaging 1.00
R4077:Arhgef12 UTSW 9 42,886,588 (GRCm39) missense probably damaging 0.99
R4079:Arhgef12 UTSW 9 42,886,588 (GRCm39) missense probably damaging 0.99
R4111:Arhgef12 UTSW 9 42,883,570 (GRCm39) missense probably damaging 1.00
R4302:Arhgef12 UTSW 9 42,929,645 (GRCm39) nonsense probably null
R4327:Arhgef12 UTSW 9 42,886,525 (GRCm39) nonsense probably null
R4462:Arhgef12 UTSW 9 42,893,278 (GRCm39) missense probably damaging 1.00
R4583:Arhgef12 UTSW 9 42,888,958 (GRCm39) missense probably damaging 1.00
R4603:Arhgef12 UTSW 9 42,921,489 (GRCm39) missense probably benign 0.27
R4650:Arhgef12 UTSW 9 42,893,266 (GRCm39) missense probably damaging 1.00
R4741:Arhgef12 UTSW 9 42,883,449 (GRCm39) missense possibly damaging 0.54
R4823:Arhgef12 UTSW 9 42,931,992 (GRCm39) missense probably benign
R4840:Arhgef12 UTSW 9 42,886,364 (GRCm39) missense probably benign 0.04
R4912:Arhgef12 UTSW 9 42,904,361 (GRCm39) nonsense probably null
R5176:Arhgef12 UTSW 9 42,931,982 (GRCm39) missense probably damaging 0.97
R5426:Arhgef12 UTSW 9 42,897,880 (GRCm39) missense probably damaging 1.00
R5579:Arhgef12 UTSW 9 42,921,489 (GRCm39) missense probably benign 0.27
R5838:Arhgef12 UTSW 9 42,916,904 (GRCm39) missense probably damaging 1.00
R6230:Arhgef12 UTSW 9 42,900,261 (GRCm39) missense probably benign 0.04
R6741:Arhgef12 UTSW 9 42,883,503 (GRCm39) missense probably benign 0.05
R6959:Arhgef12 UTSW 9 42,927,249 (GRCm39) missense probably benign
R7252:Arhgef12 UTSW 9 42,927,205 (GRCm39) missense probably benign 0.17
R7470:Arhgef12 UTSW 9 42,951,848 (GRCm39) missense probably damaging 1.00
R7658:Arhgef12 UTSW 9 42,903,832 (GRCm39) missense probably damaging 1.00
R7724:Arhgef12 UTSW 9 42,938,567 (GRCm39) missense probably damaging 1.00
R7980:Arhgef12 UTSW 9 42,882,595 (GRCm39) nonsense probably null
R8074:Arhgef12 UTSW 9 42,882,399 (GRCm39) nonsense probably null
R8155:Arhgef12 UTSW 9 42,953,958 (GRCm39) missense probably damaging 1.00
R8270:Arhgef12 UTSW 9 42,882,354 (GRCm39) missense probably benign
R8407:Arhgef12 UTSW 9 42,937,475 (GRCm39) critical splice donor site probably null
R8527:Arhgef12 UTSW 9 42,908,944 (GRCm39) missense possibly damaging 0.95
R9116:Arhgef12 UTSW 9 42,893,241 (GRCm39) splice site probably benign
R9127:Arhgef12 UTSW 9 42,885,870 (GRCm39) missense possibly damaging 0.94
R9602:Arhgef12 UTSW 9 42,895,676 (GRCm39) missense probably damaging 1.00
R9665:Arhgef12 UTSW 9 42,929,650 (GRCm39) missense possibly damaging 0.89
R9735:Arhgef12 UTSW 9 42,882,399 (GRCm39) nonsense probably null
R9760:Arhgef12 UTSW 9 42,903,318 (GRCm39) missense probably damaging 1.00
RF020:Arhgef12 UTSW 9 42,901,285 (GRCm39) missense possibly damaging 0.75
Z1176:Arhgef12 UTSW 9 42,882,368 (GRCm39) missense probably benign 0.00
Z1186:Arhgef12 UTSW 9 42,911,311 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCCATATGTATATAAAAGGCCAC -3'
(R):5'- CCCATGGAATGAGTCTAAATAAAGC -3'

Sequencing Primer
(F):5'- GGCCACTTGTATACAAAAAGTAAGAC -3'
(R):5'- AAAGCAACATTCTGTACCTCCTTTTC -3'
Posted On 2022-11-14