Incidental Mutation 'R6959:Arhgef12'
ID 541657
Institutional Source Beutler Lab
Gene Symbol Arhgef12
Ensembl Gene ENSMUSG00000059495
Gene Name Rho guanine nucleotide exchange factor 12
Synonyms 2310014B11Rik, LARG
MMRRC Submission 045069-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.936) question?
Stock # R6959 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 42875138-43017069 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42927249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 292 (T292A)
Ref Sequence ENSEMBL: ENSMUSP00000126598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072767] [ENSMUST00000165665]
AlphaFold Q8R4H2
Predicted Effect probably benign
Transcript: ENSMUST00000072767
AA Change: T292A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000072547
Gene: ENSMUSG00000059495
AA Change: T292A

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 benign
Transcript: ENSMUST00000165665
AA Change: T292A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126598
Gene: ENSMUSG00000059495
AA Change: T292A

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 probably benign
Transcript: ENSMUST00000213566
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.5%
Validation Efficiency 94% (61/65)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544D05Rik G A 11: 70,507,485 (GRCm39) G177R probably damaging Het
Atp11a T A 8: 12,870,467 (GRCm39) D173E probably damaging Het
Bltp1 T G 3: 37,021,338 (GRCm39) V2154G probably damaging Het
Btnl2 G A 17: 34,582,333 (GRCm39) V300M possibly damaging Het
Calcrl A T 2: 84,200,428 (GRCm39) N117K possibly damaging Het
Castor2 T C 5: 134,164,052 (GRCm39) S83P probably damaging Het
Ccdc196 A G 12: 78,249,070 (GRCm39) K139E probably damaging Het
Ccl22 A T 8: 95,473,528 (GRCm39) probably null Het
Cd200r1 T A 16: 44,610,539 (GRCm39) S216T probably damaging Het
Cdk5rap2 G A 4: 70,278,906 (GRCm39) probably null Het
Cfap157 A G 2: 32,674,260 (GRCm39) I47T probably damaging Het
Chodl G A 16: 78,743,572 (GRCm39) V220I probably damaging Het
Cntnap5b A G 1: 100,202,197 (GRCm39) E348G probably benign Het
Cstf3 A G 2: 104,479,807 (GRCm39) T225A probably benign Het
Duoxa1 T C 2: 122,134,318 (GRCm39) S267G probably damaging Het
Epb41l1 G A 2: 156,341,507 (GRCm39) S164N probably benign Het
Fat3 T C 9: 15,908,181 (GRCm39) D2607G possibly damaging Het
Galnt5 A G 2: 57,889,231 (GRCm39) D277G probably benign Het
Galnt6 A G 15: 100,612,006 (GRCm39) I212T probably damaging Het
Gm45861 T C 8: 28,038,213 (GRCm39) probably null Het
Gm5478 T C 15: 101,553,883 (GRCm39) D243G probably damaging Het
Gse1 A G 8: 121,297,710 (GRCm39) probably benign Het
Hspg2 A T 4: 137,246,600 (GRCm39) Q1096L probably benign Het
Hycc1 T C 5: 24,196,754 (GRCm39) I45V possibly damaging Het
Idh3b A G 2: 130,123,447 (GRCm39) V181A probably damaging Het
Igf2bp3 T C 6: 49,094,082 (GRCm39) probably null Het
Ikzf2 A G 1: 69,577,929 (GRCm39) *382Q probably null Het
Impg2 A C 16: 56,088,693 (GRCm39) H1073P probably benign Het
Incenp T C 19: 9,854,134 (GRCm39) E639G unknown Het
Kcne4 A G 1: 78,795,603 (GRCm39) M84V probably benign Het
Ktn1 T A 14: 47,957,713 (GRCm39) F1004I probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Malrd1 A G 2: 16,222,820 (GRCm39) I2040V probably damaging Het
Mau2 T C 8: 70,485,878 (GRCm39) D110G probably damaging Het
Mei1 T C 15: 82,009,076 (GRCm39) V1237A probably benign Het
Mfsd11 T G 11: 116,752,495 (GRCm39) probably null Het
Ncapd2 A G 6: 125,145,883 (GRCm39) F1293L probably benign Het
Nf1 A G 11: 79,440,294 (GRCm39) T280A probably damaging Het
Obscn G T 11: 58,928,411 (GRCm39) A6085E probably damaging Het
Or51b6b T A 7: 103,310,050 (GRCm39) I136F probably damaging Het
Pdzd2 C T 15: 12,375,993 (GRCm39) A1381T probably benign Het
Pramel41 T A 5: 94,594,891 (GRCm39) N250K possibly damaging Het
Ralgapa2 A G 2: 146,184,621 (GRCm39) V1462A probably damaging Het
Rbx1 T A 15: 81,355,163 (GRCm39) C56* probably null Het
Reln A G 5: 22,181,562 (GRCm39) S1774P probably damaging Het
Ros1 T A 10: 52,040,090 (GRCm39) E300D probably damaging Het
Sarnp T C 10: 128,684,137 (GRCm39) V111A possibly damaging Het
Scube1 G T 15: 83,513,636 (GRCm39) Q345K probably benign Het
Slc18b1 A G 10: 23,701,942 (GRCm39) probably null Het
Slc37a2 T A 9: 37,152,630 (GRCm39) T64S probably benign Het
Slit2 A G 5: 48,395,727 (GRCm39) D710G possibly damaging Het
Srp72 T A 5: 77,142,070 (GRCm39) Y375N possibly damaging Het
Tmco4 T A 4: 138,737,810 (GRCm39) V135D probably damaging Het
Trim62 A G 4: 128,802,955 (GRCm39) D335G probably damaging Het
Tsfm T C 10: 126,858,778 (GRCm39) M196V probably benign Het
Tspan10 T A 11: 120,335,522 (GRCm39) C211S probably damaging Het
Ttc21b A T 2: 66,061,656 (GRCm39) M498K probably benign Het
Ttc6 A T 12: 57,704,928 (GRCm39) probably null Het
Ttll1 G T 15: 83,386,397 (GRCm39) Y69* probably null Het
Usp28 T A 9: 48,912,842 (GRCm39) L31H probably damaging Het
Vmn2r86 A G 10: 130,282,400 (GRCm39) S739P probably damaging Het
Wdr64 T A 1: 175,533,555 (GRCm39) F64I probably damaging Het
Ywhaq A G 12: 21,446,281 (GRCm39) probably null Het
Zfr T C 15: 12,150,409 (GRCm39) S459P probably 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
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
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'- CACAGAAGAGTGTGCAGAACTTC -3'
(R):5'- TTGGTAGCCAGCCCTTAAC -3'

Sequencing Primer
(F):5'- CACATAGCTTAAGAAAGGGA -3'
(R):5'- TCCATGTAGAATGTATGGGCAC -3'
Posted On 2018-11-28