Incidental Mutation 'R0658:Arhgef12'
ID 62615
Institutional Source Beutler Lab
Gene Symbol Arhgef12
Ensembl Gene ENSMUSG00000059495
Gene Name Rho guanine nucleotide exchange factor 12
Synonyms 2310014B11Rik, LARG
MMRRC Submission 038843-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.936) question?
Stock # R0658 (G1)
Quality Score 119
Status Validated
Chromosome 9
Chromosomal Location 42875138-43017069 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42893281 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 974 (Y974C)
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: Y973C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072547
Gene: ENSMUSG00000059495
AA Change: Y973C

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: Y974C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126598
Gene: ENSMUSG00000059495
AA Change: Y974C

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
Meta Mutation Damage Score 0.4148 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.6%
Validation Efficiency 99% (78/79)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas1 C T 5: 100,965,827 (GRCm39) probably null Het
Acsl3 A G 1: 78,679,004 (GRCm39) D520G probably damaging Het
Adgrl3 T C 5: 81,796,560 (GRCm39) V623A probably benign Het
Ak9 G T 10: 41,223,218 (GRCm39) V454L probably damaging Het
Alpk2 C A 18: 65,482,558 (GRCm39) K483N probably damaging Het
Armc8 C T 9: 99,418,211 (GRCm39) probably benign Het
Atp2a2 C T 5: 122,595,696 (GRCm39) probably benign Het
Atrn T C 2: 130,812,147 (GRCm39) probably null Het
Caps2 T A 10: 112,039,943 (GRCm39) probably benign Het
Cep76 A G 18: 67,756,374 (GRCm39) S486P probably damaging Het
Cep97 C T 16: 55,735,265 (GRCm39) R583H probably benign Het
Cog7 A G 7: 121,555,363 (GRCm39) probably benign Het
Commd5 T A 15: 76,784,768 (GRCm39) V55E probably damaging Het
Csmd3 A T 15: 47,874,543 (GRCm39) D684E possibly damaging Het
Ctxn2 T C 2: 124,989,376 (GRCm39) M1T probably null Het
Exph5 A G 9: 53,288,775 (GRCm39) D1952G unknown Het
Fmo2 A T 1: 162,704,343 (GRCm39) L521Q possibly damaging Het
Fryl T A 5: 73,222,702 (GRCm39) T1960S probably damaging Het
G6pd2 T C 5: 61,967,017 (GRCm39) L264P probably damaging Het
Gne A T 4: 44,039,033 (GRCm39) V647E possibly damaging Het
Grb14 G A 2: 64,745,071 (GRCm39) Q96* probably null Het
Gtf3c1 A G 7: 125,298,134 (GRCm39) F146L probably damaging Het
Gvin3 C A 7: 106,202,093 (GRCm39) V384L possibly damaging Het
Irak2 A G 6: 113,615,525 (GRCm39) Y6C probably damaging Het
Kel T A 6: 41,679,965 (GRCm39) N75I probably damaging Het
Lgr4 T A 2: 109,842,132 (GRCm39) F706I possibly damaging Het
Lox A T 18: 52,661,955 (GRCm39) S149R probably benign Het
Lrrc66 T G 5: 73,768,287 (GRCm39) D218A probably benign Het
Luc7l C T 17: 26,485,296 (GRCm39) R99W probably damaging Het
Megf10 T C 18: 57,385,968 (GRCm39) V327A probably benign Het
Mthfd1l G T 10: 3,997,976 (GRCm39) probably null Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Myh8 G T 11: 67,175,358 (GRCm39) probably null Het
Or5b109 A T 19: 13,212,424 (GRCm39) D270V possibly damaging Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pgf C T 12: 85,216,159 (GRCm39) R153K probably benign Het
Pramel12 A T 4: 143,144,170 (GRCm39) Q172L probably damaging Het
Prdm2 A G 4: 142,861,835 (GRCm39) V485A probably damaging Het
Rag1 T C 2: 101,473,028 (GRCm39) T705A probably damaging Het
Rflna A C 5: 125,080,774 (GRCm39) D48A possibly damaging Het
Rnf148 A T 6: 23,654,456 (GRCm39) I180N probably damaging Het
Rtn4 T A 11: 29,656,475 (GRCm39) S94T probably damaging Het
Scn11a G A 9: 119,640,226 (GRCm39) T223I probably benign Het
Scube2 T A 7: 109,436,327 (GRCm39) probably benign Het
Septin14 T C 5: 129,774,972 (GRCm39) I68V probably benign Het
Sil1 A T 18: 35,399,910 (GRCm39) L365Q possibly damaging Het
Sirt1 A G 10: 63,157,515 (GRCm39) probably benign Het
Slc9a1 T C 4: 133,147,810 (GRCm39) probably benign Het
Smpdl3a A G 10: 57,687,336 (GRCm39) T355A probably damaging Het
Syne2 T C 12: 76,141,110 (GRCm39) I6074T probably damaging Het
Thbs2 T A 17: 14,900,587 (GRCm39) H540L probably benign Het
Tsc22d4 T C 5: 137,766,283 (GRCm39) S450P probably benign Het
Tshr C A 12: 91,505,000 (GRCm39) S54* probably null Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Uncx G T 5: 139,529,942 (GRCm39) C65F probably damaging Het
Vmn1r87 A T 7: 12,865,756 (GRCm39) M177K probably damaging Het
Vmn2r56 A T 7: 12,444,235 (GRCm39) C466S probably benign Het
Wnk1 G A 6: 119,925,466 (GRCm39) P1831S probably damaging Het
Zfp820 T C 17: 22,037,901 (GRCm39) S476G 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
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'- TGAGTACACCGTTGCTTTACCTGC -3'
(R):5'- GGCTGACCTGTGTAAAACTACCTGG -3'

Sequencing Primer
(F):5'- AGCTGTTTCCAGCCTAGAATGAC -3'
(R):5'- atctgcctgcctctgcc -3'
Posted On 2013-07-30