Incidental Mutation 'R9602:Arhgef12'
ID 723735
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: 0.936) question?
Stock # R9602 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 42875138-43017069 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42895676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 951 (Y951H)
Ref Sequence ENSEMBL: ENSMUSP00000126598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072767] [ENSMUST00000165665]
AlphaFold Q8R4H2
Predicted Effect probably damaging
Transcript: ENSMUST00000072767
AA Change: Y950H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072547
Gene: ENSMUSG00000059495
AA Change: Y950H

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 damaging
Transcript: ENSMUST00000165665
AA Change: Y951H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126598
Gene: ENSMUSG00000059495
AA Change: Y951H

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik G A 9: 55,910,261 (GRCm39) S125L possibly damaging Het
Abca3 T C 17: 24,617,378 (GRCm39) V1025A probably benign Het
Adam5 T C 8: 25,303,402 (GRCm39) K175R probably damaging Het
Arhgap39 A C 15: 76,610,954 (GRCm39) S885R probably damaging Het
Bbs1 G A 19: 4,941,083 (GRCm39) L544F probably damaging Het
Bcar1 C T 8: 112,440,498 (GRCm39) E499K probably benign Het
Brinp3 C T 1: 146,622,234 (GRCm39) T212I probably damaging Het
Cdh20 A T 1: 104,868,823 (GRCm39) I105F probably benign Het
Cenpp T C 13: 49,801,049 (GRCm39) E123G probably damaging Het
Col14a1 C A 15: 55,351,345 (GRCm39) D1557E unknown Het
Col6a3 A T 1: 90,731,497 (GRCm39) N1585K probably benign Het
Cox6a1 G A 5: 115,486,934 (GRCm39) P26S unknown Het
Epb41l1 G T 2: 156,367,068 (GRCm39) D646Y probably damaging Het
Fbxw10 G T 11: 62,750,782 (GRCm39) R455L possibly damaging Het
Fmnl2 T C 2: 53,013,587 (GRCm39) probably null Het
Gata3 T A 2: 9,863,297 (GRCm39) I406F possibly damaging Het
Gm14406 C T 2: 177,261,028 (GRCm39) G417D probably damaging Het
Gpr31b C T 17: 13,270,771 (GRCm39) G133S possibly damaging Het
Gtf2h1 T A 7: 46,456,219 (GRCm39) D196E possibly damaging Het
Hcn2 A G 10: 79,562,128 (GRCm39) I375V probably benign Het
Kctd20 T C 17: 29,180,442 (GRCm39) M72T probably benign Het
Klhl2 A T 8: 65,205,696 (GRCm39) F408L probably damaging Het
Mllt10 T C 2: 18,211,850 (GRCm39) V921A probably damaging Het
Mn1 A T 5: 111,565,449 (GRCm39) probably benign Het
Mov10 A T 3: 104,708,284 (GRCm39) D488E probably benign Het
Muc5b G T 7: 141,417,211 (GRCm39) D3386Y probably benign Het
Myo15b G A 11: 115,769,269 (GRCm39) probably null Het
Nudt7 T C 8: 114,878,499 (GRCm39) F176L probably damaging Het
Obscn A G 11: 58,981,385 (GRCm39) Y1878H probably damaging Het
Or6c5b A T 10: 129,245,802 (GRCm39) D189V probably damaging Het
Pabpn1l T A 8: 123,347,101 (GRCm39) T250S probably benign Het
Prr11 C T 11: 86,987,998 (GRCm39) D302N possibly damaging Het
Prx T A 7: 27,218,445 (GRCm39) V1121D possibly damaging Het
Ptcd1 A G 5: 145,096,448 (GRCm39) V215A probably benign Het
Rasa3 T C 8: 13,681,844 (GRCm39) D35G probably benign Het
Rbm5 A G 9: 107,629,152 (GRCm39) S348P probably benign Het
Rmdn2 G A 17: 79,975,440 (GRCm39) G310R probably damaging Het
Rnf114 T A 2: 167,353,162 (GRCm39) C144* probably null Het
Rreb1 T C 13: 38,114,477 (GRCm39) I612T probably damaging Het
Sdk1 A T 5: 142,071,353 (GRCm39) D1181V probably damaging Het
Secisbp2l A T 2: 125,609,356 (GRCm39) M324K probably benign Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Slc22a6 G T 19: 8,598,560 (GRCm39) E206* probably null Het
Smg5 T C 3: 88,250,214 (GRCm39) C109R probably damaging Het
Socs7 A G 11: 97,267,837 (GRCm39) T323A probably benign Het
Spen T C 4: 141,205,183 (GRCm39) N1148S unknown Het
Tek C G 4: 94,715,968 (GRCm39) I463M possibly damaging Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Ugt2b34 T C 5: 87,054,163 (GRCm39) D206G probably damaging Het
Upk3a C T 15: 84,905,464 (GRCm39) P191L probably benign Het
Vmn2r101 T A 17: 19,831,780 (GRCm39) L592* probably null Het
Vmn2r82 A G 10: 79,214,880 (GRCm39) I288V probably benign Het
Vmn2r88 T A 14: 51,651,189 (GRCm39) S168T Het
Wnt5a C A 14: 28,240,295 (GRCm39) N148K probably benign Het
Yipf5 T C 18: 40,345,134 (GRCm39) Y82C probably damaging Het
Zfp655 T A 5: 145,181,473 (GRCm39) C444S probably benign Het
Zpr1 A G 9: 46,184,663 (GRCm39) N57D 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
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'- TGTCTTCTCAGGAAATATCTGCC -3'
(R):5'- GCCTTTGTCTAATAATCAGGCCTC -3'

Sequencing Primer
(F):5'- AATCTATGCATGTGGGTGCTCAC -3'
(R):5'- TCAGGCCTCTGATGCAGTG -3'
Posted On 2022-09-12