Incidental Mutation 'R5838:Arhgef12'
ID 449731
Institutional Source Beutler Lab
Gene Symbol Arhgef12
Ensembl Gene ENSMUSG00000059495
Gene Name Rho guanine nucleotide exchange factor 12
Synonyms 2310014B11Rik, LARG
MMRRC Submission 044058-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.931) question?
Stock # R5838 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 42875138-43017069 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 42916904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 414 (T414I)
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: T413I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072547
Gene: ENSMUSG00000059495
AA Change: T413I

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: T414I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126598
Gene: ENSMUSG00000059495
AA Change: T414I

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: 98.5%
  • 20x: 95.7%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace G A 11: 105,863,706 (GRCm39) V385I probably benign Het
Apmap T C 2: 150,427,777 (GRCm39) Y315C probably damaging Het
Cd200r1 C A 16: 44,586,397 (GRCm39) A9D possibly damaging Het
Cdkal1 T C 13: 29,875,669 (GRCm39) D183G probably benign Het
Clk1 C A 1: 58,451,819 (GRCm39) C432F probably damaging Het
Col27a1 G T 4: 63,143,765 (GRCm39) L484F probably damaging Het
Col7a1 A G 9: 108,807,211 (GRCm39) E2480G unknown Het
Dnah5 A G 15: 28,290,341 (GRCm39) I1244V probably benign Het
Dock3 G T 9: 106,772,687 (GRCm39) P522Q possibly damaging Het
Drc1 T A 5: 30,523,857 (GRCm39) probably null Het
Epas1 C T 17: 87,131,114 (GRCm39) T298I possibly damaging Het
Epha1 A T 6: 42,338,580 (GRCm39) I699N probably damaging Het
Ephb3 T C 16: 21,040,437 (GRCm39) S558P probably damaging Het
Epn1 T A 7: 5,100,165 (GRCm39) L426* probably null Het
Fam234b T C 6: 135,202,265 (GRCm39) V329A probably benign Het
Fasn G T 11: 120,706,950 (GRCm39) R901S probably damaging Het
Fbln2 T C 6: 91,248,830 (GRCm39) M1165T possibly damaging Het
Fer1l4 T C 2: 155,893,913 (GRCm39) R103G probably benign Het
G6pd2 T A 5: 61,966,568 (GRCm39) D114E probably benign Het
Galnt10 A G 11: 57,671,882 (GRCm39) K391E probably damaging Het
Gpr150 C A 13: 76,204,045 (GRCm39) C300F probably benign Het
Hhipl2 A G 1: 183,204,479 (GRCm39) T151A probably damaging Het
Hmcn2 C A 2: 31,347,819 (GRCm39) L4822M probably damaging Het
Ifi207 T A 1: 173,559,953 (GRCm39) Q173L unknown Het
Inca1 T C 11: 70,580,707 (GRCm39) E86G probably damaging Het
Iqca1 A G 1: 90,072,667 (GRCm39) L71P probably benign Het
Kank2 G T 9: 21,706,689 (GRCm39) Q110K probably damaging Het
Katnip A T 7: 125,466,827 (GRCm39) M1361L possibly damaging Het
Kif13b A T 14: 64,975,004 (GRCm39) M407L probably damaging Het
Kif5a A C 10: 127,081,310 (GRCm39) I208S probably damaging Het
Kmt2c T C 5: 25,489,469 (GRCm39) K4490R probably damaging Het
Ltbp2 C T 12: 84,835,875 (GRCm39) R1352H probably benign Het
Macf1 T C 4: 123,345,947 (GRCm39) Q2061R possibly damaging Het
Marcks A G 10: 37,012,163 (GRCm39) S291P probably benign Het
Mccc1 A G 3: 36,039,231 (GRCm39) V254A possibly damaging Het
Mdn1 C T 4: 32,754,547 (GRCm39) R4683W probably damaging Het
Mon2 A G 10: 122,846,397 (GRCm39) probably null Het
Ndrg4 A T 8: 96,433,421 (GRCm39) H134L probably damaging Het
Nek7 C A 1: 138,462,101 (GRCm39) probably null Het
Nlrc3 C T 16: 3,771,859 (GRCm39) S151N probably damaging Het
Nsl1 C A 1: 190,802,310 (GRCm39) A146E probably benign Het
Or10a3n A T 7: 108,493,292 (GRCm39) F107L probably benign Het
Or2y1e A C 11: 49,218,760 (GRCm39) N174T probably damaging Het
Or52ac1 A G 7: 104,246,104 (GRCm39) Y95H probably benign Het
Or5b120 T A 19: 13,479,922 (GRCm39) Y72N probably damaging Het
Or6c210 A T 10: 129,495,907 (GRCm39) R77S probably benign Het
Pde4d A C 13: 109,876,976 (GRCm39) S41R probably damaging Het
Phlpp1 T A 1: 106,274,862 (GRCm39) L875* probably null Het
Pkd1 T A 17: 24,799,186 (GRCm39) S2802T possibly damaging Het
Polr3b A G 10: 84,510,454 (GRCm39) T500A probably benign Het
Ppp2r2c T C 5: 37,097,531 (GRCm39) V239A probably benign Het
Pramel11 A G 4: 143,623,490 (GRCm39) V228A probably benign Het
Reln T A 5: 22,104,111 (GRCm39) I3287F probably damaging Het
Scube2 T C 7: 109,407,651 (GRCm39) D763G probably damaging Het
Setd5 T C 6: 113,096,396 (GRCm39) V534A probably benign Het
Slc10a4 T A 5: 73,169,373 (GRCm39) C333S probably benign Het
Slc15a1 G A 14: 121,722,283 (GRCm39) A206V probably damaging Het
Snx14 A G 9: 88,273,829 (GRCm39) L654P probably damaging Het
Sowahc G A 10: 59,059,012 (GRCm39) A383T possibly damaging Het
Taf1b A G 12: 24,550,448 (GRCm39) D11G possibly damaging Het
Tap1 C T 17: 34,412,279 (GRCm39) Q164* probably null Het
Tbcel T A 9: 42,327,168 (GRCm39) R430W probably damaging Het
Trappc11 A T 8: 47,965,594 (GRCm39) probably null Het
Trim15 T C 17: 37,173,732 (GRCm39) I259V probably damaging Het
Trpt1 T C 19: 6,975,668 (GRCm39) S141P probably damaging Het
Tsc2 T A 17: 24,832,190 (GRCm39) Q732L probably benign Het
Tstd3 C A 4: 21,759,622 (GRCm39) probably null Het
Unc13d T C 11: 115,955,451 (GRCm39) K914R possibly damaging Het
Unk A G 11: 115,940,157 (GRCm39) E170G probably damaging Het
Uqcc2 T A 17: 27,344,860 (GRCm39) K62* probably null Het
Vim A G 2: 13,585,001 (GRCm39) D394G probably damaging Het
Wdr47 G A 3: 108,532,052 (GRCm39) probably null 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
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'- TCCAAGAATTATCCTTTGGATCCTC -3'
(R):5'- TTACCTGATTGAGCAGCCAC -3'

Sequencing Primer
(F):5'- TTTCATTCCCCAATCTAATCATGTAC -3'
(R):5'- TGATTGAGCAGCCACATACTG -3'
Posted On 2016-12-20