Incidental Mutation 'R0426:Arhgef12'
ID 38659
Institutional Source Beutler Lab
Gene Symbol Arhgef12
Ensembl Gene ENSMUSG00000059495
Gene Name Rho guanine nucleotide exchange factor 12
Synonyms 2310014B11Rik, LARG
MMRRC Submission 038628-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.936) question?
Stock # R0426 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 42875138-43017069 bp(-) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) T to C at 42882286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072767] [ENSMUST00000165665]
AlphaFold Q8R4H2
Predicted Effect probably null
Transcript: ENSMUST00000072767
SMART Domains Protein: ENSMUSP00000072547
Gene: ENSMUSG00000059495

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
SMART Domains Protein: ENSMUSP00000126598
Gene: ENSMUSG00000059495

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216016
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 96% (86/90)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,845,853 (GRCm39) probably benign Het
Acadl A T 1: 66,880,805 (GRCm39) F320L probably damaging Het
Acsbg1 T C 9: 54,530,030 (GRCm39) D222G probably benign Het
Anapc15 A G 7: 101,547,240 (GRCm39) T39A probably benign Het
Ano3 A T 2: 110,491,519 (GRCm39) V919E probably damaging Het
Atad5 T A 11: 80,003,658 (GRCm39) I1091N probably benign Het
Atf1 A T 15: 100,130,708 (GRCm39) H26L possibly damaging Het
Atp10a T C 7: 58,434,482 (GRCm39) M252T probably benign Het
Btbd8 C T 5: 107,658,239 (GRCm39) T1603I probably damaging Het
Cd55 C T 1: 130,376,109 (GRCm39) R347H probably benign Het
Cdc27 A C 11: 104,403,853 (GRCm39) probably null Het
Cdh9 G A 15: 16,823,540 (GRCm39) probably null Het
Cdk11b T C 4: 155,726,969 (GRCm39) probably benign Het
Cep70 A G 9: 99,179,737 (GRCm39) D567G probably benign Het
Cep78 A T 19: 15,948,334 (GRCm39) Y382* probably null Het
Cgas G A 9: 78,343,020 (GRCm39) probably benign Het
Col9a2 T C 4: 120,901,857 (GRCm39) probably benign Het
Cyp2d12 G A 15: 82,443,164 (GRCm39) D409N probably benign Het
Ddx39a A G 8: 84,448,398 (GRCm39) T217A probably benign Het
Dennd1b T A 1: 139,097,934 (GRCm39) D733E probably benign Het
Dicer1 A G 12: 104,668,801 (GRCm39) S1294P probably damaging Het
Dnah3 T C 7: 119,542,795 (GRCm39) E3539G probably benign Het
Dnmbp A G 19: 43,840,875 (GRCm39) probably benign Het
Dysf T C 6: 84,126,739 (GRCm39) L1332P probably damaging Het
F5 A G 1: 164,010,409 (GRCm39) D380G probably damaging Het
Fam171a1 T C 2: 3,226,433 (GRCm39) V522A probably benign Het
Fhip1b A C 7: 105,038,680 (GRCm39) C186W probably damaging Het
Galr2 C A 11: 116,172,517 (GRCm39) A69D probably damaging Het
Grk2 T C 19: 4,340,628 (GRCm39) probably null Het
Gtf3c1 A T 7: 125,262,188 (GRCm39) Y1119* probably null Het
Hgd A T 16: 37,409,047 (GRCm39) probably benign Het
Ildr2 G T 1: 166,136,468 (GRCm39) V436L probably benign Het
Intu G A 3: 40,629,735 (GRCm39) C355Y probably damaging Het
Irf2bpl G T 12: 86,929,870 (GRCm39) P268T probably benign Het
Jarid2 T C 13: 44,994,358 (GRCm39) probably null Het
Jup A T 11: 100,263,227 (GRCm39) M716K probably benign Het
Kank1 G A 19: 25,388,837 (GRCm39) V809I probably damaging Het
Kdm1b T A 13: 47,217,720 (GRCm39) probably benign Het
Kdm3a C T 6: 71,577,739 (GRCm39) C687Y probably damaging Het
Kdm5d T A Y: 942,437 (GRCm39) probably benign Het
Kifap3 T A 1: 163,693,121 (GRCm39) probably benign Het
Macf1 T A 4: 123,377,453 (GRCm39) K1400* probably null Het
Majin A G 19: 6,262,147 (GRCm39) probably benign Het
Mctp1 A G 13: 77,168,940 (GRCm39) I846V probably benign Het
Mrgpra2b T A 7: 47,113,875 (GRCm39) I286F possibly damaging Het
Neil3 T G 8: 54,062,431 (GRCm39) probably benign Het
Nox3 G T 17: 3,745,838 (GRCm39) N23K probably damaging Het
Nt5c3 T C 6: 56,860,797 (GRCm39) K219E probably benign Het
Or1e29 T A 11: 73,667,263 (GRCm39) M297L probably benign Het
Or52b4i T A 7: 102,191,893 (GRCm39) I250N probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or6b13 A C 7: 139,782,029 (GRCm39) F218C possibly damaging Het
Or6d13 A T 6: 116,517,446 (GRCm39) N11Y probably damaging Het
Or8g34 T C 9: 39,372,889 (GRCm39) L54P probably damaging Het
Pacsin2 A G 15: 83,263,996 (GRCm39) V347A possibly damaging Het
Pcdhb7 A T 18: 37,475,857 (GRCm39) E331V probably damaging Het
Pcid2 A C 8: 13,131,262 (GRCm39) probably null Het
Pcsk9 T C 4: 106,307,274 (GRCm39) D323G possibly damaging Het
Pdhb T C 14: 8,169,801 (GRCm38) E203G probably damaging Het
Phlpp2 A G 8: 110,655,095 (GRCm39) Y630C probably benign Het
Pidd1 C T 7: 141,019,046 (GRCm39) A812T probably damaging Het
Plau G A 14: 20,892,382 (GRCm39) R389H probably benign Het
Plekhg6 G A 6: 125,341,592 (GRCm39) probably null Het
Ppox T C 1: 171,105,322 (GRCm39) Y321C probably damaging Het
Pxdn A G 12: 30,037,065 (GRCm39) N281S possibly damaging Het
Pycr3 A T 15: 75,790,237 (GRCm39) M138K probably benign Het
Radil T C 5: 142,483,628 (GRCm39) Y526C probably damaging Het
Ranbp3 C A 17: 57,014,169 (GRCm39) D233E probably benign Het
Rhpn1 A G 15: 75,583,721 (GRCm39) Q402R possibly damaging Het
Sec23b T A 2: 144,410,532 (GRCm39) probably benign Het
Sel1l2 A T 2: 140,082,832 (GRCm39) L602* probably null Het
Sema5b G A 16: 35,466,725 (GRCm39) G209D probably damaging Het
Svep1 T C 4: 58,073,333 (GRCm39) Y1992C possibly damaging Het
Syncrip T A 9: 88,338,312 (GRCm39) probably benign Het
Synj1 G T 16: 90,764,242 (GRCm39) A65E probably damaging Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tecrl T C 5: 83,502,610 (GRCm39) probably benign Het
Tenm4 G T 7: 96,427,058 (GRCm39) G698C probably damaging Het
Tmem209 G A 6: 30,491,181 (GRCm39) L259F probably damaging Het
Tmem247 G A 17: 87,225,931 (GRCm39) E124K possibly damaging Het
Tnks2 C A 19: 36,830,221 (GRCm39) A218E probably damaging Het
Tppp T A 13: 74,169,430 (GRCm39) F57I probably damaging Het
Trim36 A G 18: 46,305,592 (GRCm39) W452R probably damaging Het
Vars2 A T 17: 35,975,476 (GRCm39) V262E probably damaging Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Zfp516 G T 18: 82,973,897 (GRCm39) A32S probably benign Het
Zfy2 G T Y: 2,107,348 (GRCm39) L429I possibly damaging 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
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
R9733:Arhgef12 UTSW 9 42,901,294 (GRCm39) nonsense probably null
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'- TGATTGACAGCCACGAAAGCCC -3'
(R):5'- AGCAACATTCCCCTCAGAATGTGC -3'

Sequencing Primer
(F):5'- TGGAAACCAACTGACCCAGTATTTAG -3'
(R):5'- GTTTCACCATTCACCCCAGA -3'
Posted On 2013-05-23