Incidental Mutation 'R9710:Arhgef2'
ID 730045
Institutional Source Beutler Lab
Gene Symbol Arhgef2
Ensembl Gene ENSMUSG00000028059
Gene Name Rho/Rac guanine nucleotide exchange factor 2
Synonyms Lfc, Lbcl1, LFP40, P40, GEFH1, GEF-H1
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.664) question?
Stock # R9710 (G1)
Quality Score 157.009
Status Not validated
Chromosome 3
Chromosomal Location 88513273-88555359 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88528576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 4 (I4T)
Ref Sequence ENSEMBL: ENSMUSP00000029694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029694] [ENSMUST00000107510] [ENSMUST00000170653] [ENSMUST00000175779] [ENSMUST00000175903] [ENSMUST00000175911] [ENSMUST00000176243] [ENSMUST00000176307] [ENSMUST00000176500] [ENSMUST00000176539] [ENSMUST00000176804] [ENSMUST00000177023] [ENSMUST00000177303] [ENSMUST00000177498]
AlphaFold Q60875
Predicted Effect probably benign
Transcript: ENSMUST00000029694
AA Change: I4T

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029694
Gene: ENSMUSG00000028059
AA Change: I4T

DomainStartEndE-ValueType
C1 40 86 4.22e-9 SMART
low complexity region 90 95 N/A INTRINSIC
low complexity region 133 146 N/A INTRINSIC
RhoGEF 240 432 1.86e-58 SMART
PH 474 574 9.56e-11 SMART
coiled coil region 588 619 N/A INTRINSIC
low complexity region 812 827 N/A INTRINSIC
coiled coil region 829 866 N/A INTRINSIC
low complexity region 872 888 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107510
SMART Domains Protein: ENSMUSP00000103134
Gene: ENSMUSG00000028059

DomainStartEndE-ValueType
C1 13 59 4.22e-9 SMART
low complexity region 63 68 N/A INTRINSIC
low complexity region 106 119 N/A INTRINSIC
RhoGEF 213 405 1.86e-58 SMART
PH 447 547 9.56e-11 SMART
coiled coil region 561 592 N/A INTRINSIC
low complexity region 785 800 N/A INTRINSIC
coiled coil region 802 839 N/A INTRINSIC
low complexity region 845 861 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170653
SMART Domains Protein: ENSMUSP00000127843
Gene: ENSMUSG00000028059

DomainStartEndE-ValueType
C1 13 59 4.22e-9 SMART
low complexity region 63 68 N/A INTRINSIC
low complexity region 104 117 N/A INTRINSIC
RhoGEF 211 403 1.86e-58 SMART
PH 445 545 9.56e-11 SMART
coiled coil region 559 590 N/A INTRINSIC
low complexity region 783 798 N/A INTRINSIC
coiled coil region 800 837 N/A INTRINSIC
low complexity region 843 859 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000175779
SMART Domains Protein: ENSMUSP00000135177
Gene: ENSMUSG00000028059

DomainStartEndE-ValueType
C1 25 71 4.22e-9 SMART
low complexity region 75 80 N/A INTRINSIC
low complexity region 118 131 N/A INTRINSIC
RhoGEF 225 417 1.86e-58 SMART
PH 459 559 9.56e-11 SMART
coiled coil region 573 604 N/A INTRINSIC
low complexity region 797 812 N/A INTRINSIC
coiled coil region 814 851 N/A INTRINSIC
low complexity region 857 873 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000175903
SMART Domains Protein: ENSMUSP00000135168
Gene: ENSMUSG00000028059

DomainStartEndE-ValueType
C1 25 71 4.22e-9 SMART
low complexity region 75 80 N/A INTRINSIC
low complexity region 118 131 N/A INTRINSIC
RhoGEF 223 415 1.86e-58 SMART
PH 457 557 9.56e-11 SMART
coiled coil region 571 602 N/A INTRINSIC
low complexity region 795 810 N/A INTRINSIC
coiled coil region 812 849 N/A INTRINSIC
low complexity region 855 871 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000175911
SMART Domains Protein: ENSMUSP00000135428
Gene: ENSMUSG00000028059

DomainStartEndE-ValueType
C1 32 78 4.22e-9 SMART
low complexity region 82 87 N/A INTRINSIC
low complexity region 125 138 N/A INTRINSIC
RhoGEF 232 424 1.86e-58 SMART
PH 466 566 9.56e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176243
SMART Domains Protein: ENSMUSP00000135771
Gene: ENSMUSG00000028059

DomainStartEndE-ValueType
C1 13 59 4.22e-9 SMART
low complexity region 63 68 N/A INTRINSIC
low complexity region 104 117 N/A INTRINSIC
Blast:RhoGEF 170 203 1e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000176307
SMART Domains Protein: ENSMUSP00000134843
Gene: ENSMUSG00000028059

DomainStartEndE-ValueType
C1 13 59 4.22e-9 SMART
low complexity region 63 68 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176500
SMART Domains Protein: ENSMUSP00000134834
Gene: ENSMUSG00000028059

DomainStartEndE-ValueType
C1 25 71 4.22e-9 SMART
low complexity region 75 80 N/A INTRINSIC
low complexity region 118 131 N/A INTRINSIC
RhoGEF 225 417 1.86e-58 SMART
PH 459 559 9.56e-11 SMART
coiled coil region 573 604 N/A INTRINSIC
low complexity region 797 812 N/A INTRINSIC
coiled coil region 814 851 N/A INTRINSIC
low complexity region 857 873 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176539
SMART Domains Protein: ENSMUSP00000135612
Gene: ENSMUSG00000028059

DomainStartEndE-ValueType
C1 25 71 4.22e-9 SMART
low complexity region 75 80 N/A INTRINSIC
low complexity region 118 131 N/A INTRINSIC
Blast:RhoGEF 184 253 2e-28 BLAST
PDB:4D0N|B 196 255 1e-17 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000176804
AA Change: I4T

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000135397
Gene: ENSMUSG00000028059
AA Change: I4T

DomainStartEndE-ValueType
C1 40 86 4.22e-9 SMART
low complexity region 90 95 N/A INTRINSIC
low complexity region 133 146 N/A INTRINSIC
RhoGEF 238 430 1.86e-58 SMART
PH 472 572 9.56e-11 SMART
coiled coil region 586 617 N/A INTRINSIC
low complexity region 810 825 N/A INTRINSIC
coiled coil region 827 864 N/A INTRINSIC
low complexity region 870 886 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177023
SMART Domains Protein: ENSMUSP00000134859
Gene: ENSMUSG00000028059

DomainStartEndE-ValueType
C1 25 71 4.22e-9 SMART
low complexity region 75 80 N/A INTRINSIC
low complexity region 116 129 N/A INTRINSIC
Blast:RhoGEF 182 208 5e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000177303
SMART Domains Protein: ENSMUSP00000135131
Gene: ENSMUSG00000028059

DomainStartEndE-ValueType
C1 13 59 4.22e-9 SMART
low complexity region 63 68 N/A INTRINSIC
low complexity region 106 119 N/A INTRINSIC
RhoGEF 211 403 1.86e-58 SMART
PH 445 545 9.56e-11 SMART
coiled coil region 559 590 N/A INTRINSIC
low complexity region 783 798 N/A INTRINSIC
coiled coil region 800 837 N/A INTRINSIC
low complexity region 843 859 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177498
SMART Domains Protein: ENSMUSP00000134840
Gene: ENSMUSG00000028059

DomainStartEndE-ValueType
C1 25 71 4.22e-9 SMART
low complexity region 75 80 N/A INTRINSIC
low complexity region 116 129 N/A INTRINSIC
RhoGEF 223 415 1.86e-58 SMART
PH 457 557 9.56e-11 SMART
coiled coil region 571 602 N/A INTRINSIC
low complexity region 795 810 N/A INTRINSIC
coiled coil region 812 849 N/A INTRINSIC
low complexity region 855 871 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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 that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit impaired response to viral infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T C 15: 81,946,852 (GRCm39) S250P probably benign Het
Ahcyl1 T A 3: 107,578,494 (GRCm39) I248F possibly damaging Het
Alpk2 T A 18: 65,482,646 (GRCm39) E454V probably damaging Het
Ank3 A T 10: 69,829,070 (GRCm39) T2580S Het
Anks1 G A 17: 28,128,571 (GRCm39) G46R possibly damaging Het
Arhgap45 A G 10: 79,857,635 (GRCm39) E322G probably damaging Het
C1qtnf4 T C 2: 90,720,351 (GRCm39) I208T probably damaging Het
Cachd1 T A 4: 100,832,092 (GRCm39) N751K probably benign Het
Cacna1a G T 8: 85,320,808 (GRCm39) V1589F possibly damaging Het
Cacnb1 T C 11: 97,902,197 (GRCm39) H205R probably benign Het
Castor1 A G 11: 4,169,015 (GRCm39) K61E probably benign Het
Ccdc9b G T 2: 118,591,077 (GRCm39) A152E probably benign Het
Clvs2 C A 10: 33,389,307 (GRCm39) R311L probably benign Het
Crim1 G T 17: 78,610,504 (GRCm39) G320* probably null Het
Crtam A T 9: 40,895,671 (GRCm39) D218E probably benign Het
Cwc27 G A 13: 104,943,158 (GRCm39) T128I probably damaging Het
Cyp4a14 T A 4: 115,349,347 (GRCm39) I238F probably benign Het
D930020B18Rik A C 10: 121,503,563 (GRCm39) E246A probably benign Het
Dsg1c T A 18: 20,410,044 (GRCm39) V504E probably benign Het
Enpp6 T A 8: 47,518,948 (GRCm39) S239T probably damaging Het
Eri2 A T 7: 119,384,824 (GRCm39) I559N probably benign Het
Fbxo34 T C 14: 47,768,724 (GRCm39) Y746H probably damaging Het
Galr1 A T 18: 82,424,103 (GRCm39) L58Q probably damaging Het
Ghdc A G 11: 100,658,863 (GRCm39) V423A probably benign Het
Glt28d2 T C 3: 85,779,059 (GRCm39) D138G probably benign Het
Gm266 A T 12: 111,451,763 (GRCm39) C148S probably benign Het
Gnas C T 2: 174,141,132 (GRCm39) T493M unknown Het
Hivep2 T C 10: 14,015,203 (GRCm39) I1790T probably damaging Het
Impg1 A G 9: 80,287,276 (GRCm39) V390A probably benign Het
Isy1 A G 6: 87,796,574 (GRCm39) F239L possibly damaging Het
Itgb5 A G 16: 33,685,917 (GRCm39) T86A probably benign Het
Itpr1 T C 6: 108,382,481 (GRCm39) C1458R possibly damaging Het
Krt28 T C 11: 99,255,921 (GRCm39) E446G probably damaging Het
Lama1 A T 17: 68,129,404 (GRCm39) Q3071L Het
Lasp1 A G 11: 97,697,593 (GRCm39) probably benign Het
Lmf2 T C 15: 89,237,419 (GRCm39) K348E probably benign Het
Lrch3 G T 16: 32,796,108 (GRCm39) E331* probably null Het
Lzic T A 4: 149,573,141 (GRCm39) F98I probably damaging Het
Map7d1 C A 4: 126,127,440 (GRCm39) probably null Het
Marchf8 C T 6: 116,378,405 (GRCm39) T113I possibly damaging Het
Mgrn1 A T 16: 4,745,740 (GRCm39) K423* probably null Het
Muc20 G A 16: 32,615,266 (GRCm39) T37I possibly damaging Het
Myh15 A G 16: 48,959,044 (GRCm39) E972G probably damaging Het
Myocd T A 11: 65,087,167 (GRCm39) K253N probably damaging Het
Myod1 T G 7: 46,026,575 (GRCm39) L160R probably damaging Het
Nanog T C 6: 122,684,799 (GRCm39) S20P probably benign Het
Nat8f2 A T 6: 85,844,683 (GRCm39) Y226* probably null Het
Nsmf A G 2: 24,949,077 (GRCm39) K277R probably null Het
Nsrp1 C T 11: 76,967,503 (GRCm39) G30R probably damaging Het
Nsun6 C A 2: 15,003,009 (GRCm39) R389L probably benign Het
Obscn G A 11: 58,943,397 (GRCm39) R4251C probably benign Het
Or10g9 A T 9: 39,912,172 (GRCm39) M117K probably damaging Het
Or11h4 C T 14: 50,974,199 (GRCm39) C140Y probably benign Het
Or51h1 A G 7: 102,308,441 (GRCm39) T138A probably damaging Het
Or5w20 G A 2: 87,726,902 (GRCm39) D120N probably damaging Het
Pgm1 T C 4: 99,843,918 (GRCm39) L567P probably damaging Het
Polrmt G T 10: 79,576,535 (GRCm39) H474N probably benign Het
Ppfia2 A G 10: 106,664,885 (GRCm39) I374V probably benign Het
Pramel5 T A 4: 143,999,545 (GRCm39) I181F probably benign Het
Prpf4b T A 13: 35,083,870 (GRCm39) Y880N probably damaging Het
Ptpn3 G A 4: 57,249,957 (GRCm39) Q180* probably null Het
Ptprc T C 1: 138,008,627 (GRCm39) R687G probably damaging Het
Rnaseh2a T C 8: 85,684,638 (GRCm39) T241A probably damaging Het
Rnf148 T A 6: 23,654,802 (GRCm39) I65F possibly damaging Het
Rnf213 A G 11: 119,331,831 (GRCm39) I2348V Het
Rttn A G 18: 89,035,334 (GRCm39) N736S possibly damaging Het
Ryr3 A C 2: 112,633,534 (GRCm39) V2093G probably damaging Het
Selenof T A 3: 144,283,370 (GRCm39) F33L probably benign Het
Sh2d3c C T 2: 32,635,889 (GRCm39) R238* probably null Het
Slc23a4 T C 6: 34,923,235 (GRCm39) K543R probably benign Het
Smn1 A T 13: 100,272,210 (GRCm39) N278I possibly damaging Het
Sox7 G A 14: 64,185,509 (GRCm39) A182T probably benign Het
Spata31e5 T A 1: 28,817,120 (GRCm39) Y304F probably benign Het
Sptlc2 A T 12: 87,359,533 (GRCm39) I501N probably benign Het
Srf T C 17: 46,866,271 (GRCm39) T162A probably benign Het
Srm C T 4: 148,676,039 (GRCm39) probably benign Het
Stim1 CAGCGCCTGACGGAGC CAGC 7: 102,080,118 (GRCm39) probably benign Het
Taar8a T C 10: 23,952,714 (GRCm39) L106P probably damaging Het
Tcte1 A G 17: 45,850,798 (GRCm39) H358R possibly damaging Het
Tmem205 A G 9: 21,837,587 (GRCm39) S20P probably damaging Het
Trav16 T A 14: 53,980,910 (GRCm39) V33E possibly damaging Het
Trf T A 9: 103,103,217 (GRCm39) I149F probably damaging Het
Trmt2a C T 16: 18,070,041 (GRCm39) Q419* probably null Het
Ttc19 A G 11: 62,203,997 (GRCm39) I319M probably benign Het
Txndc16 T C 14: 45,400,467 (GRCm39) I345V probably benign Het
Ube3b T C 5: 114,553,370 (GRCm39) I914T probably benign Het
Ubr3 T C 2: 69,727,957 (GRCm39) F107L possibly damaging Het
Vmn1r73 T C 7: 11,490,407 (GRCm39) F75S possibly damaging Het
Vmn2r54 A T 7: 12,363,753 (GRCm39) M380K possibly damaging Het
Wdr7 T A 18: 63,927,317 (GRCm39) M989K possibly damaging Het
Zcchc3 A G 2: 152,256,385 (GRCm39) S105P probably benign Het
Zfp735 T A 11: 73,601,806 (GRCm39) V250E possibly damaging Het
Other mutations in Arhgef2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01913:Arhgef2 APN 3 88,539,226 (GRCm39) missense probably damaging 1.00
IGL02165:Arhgef2 APN 3 88,553,527 (GRCm39) missense probably damaging 1.00
monument UTSW 3 88,540,955 (GRCm39) critical splice donor site probably null
R0090:Arhgef2 UTSW 3 88,546,655 (GRCm39) missense probably damaging 1.00
R0330:Arhgef2 UTSW 3 88,549,808 (GRCm39) missense probably damaging 1.00
R0414:Arhgef2 UTSW 3 88,539,575 (GRCm39) splice site probably benign
R0631:Arhgef2 UTSW 3 88,541,743 (GRCm39) missense probably damaging 0.99
R1635:Arhgef2 UTSW 3 88,546,628 (GRCm39) critical splice acceptor site probably null
R1688:Arhgef2 UTSW 3 88,547,607 (GRCm39) missense probably benign 0.32
R1751:Arhgef2 UTSW 3 88,551,260 (GRCm39) missense probably damaging 1.00
R1767:Arhgef2 UTSW 3 88,551,260 (GRCm39) missense probably damaging 1.00
R1836:Arhgef2 UTSW 3 88,546,766 (GRCm39) missense probably damaging 1.00
R1853:Arhgef2 UTSW 3 88,540,222 (GRCm39) missense possibly damaging 0.48
R1934:Arhgef2 UTSW 3 88,537,098 (GRCm39) missense probably damaging 0.96
R2155:Arhgef2 UTSW 3 88,543,351 (GRCm39) missense probably damaging 1.00
R2206:Arhgef2 UTSW 3 88,537,221 (GRCm39) missense probably damaging 1.00
R2360:Arhgef2 UTSW 3 88,541,723 (GRCm39) missense probably damaging 1.00
R3916:Arhgef2 UTSW 3 88,540,340 (GRCm39) missense probably damaging 1.00
R4090:Arhgef2 UTSW 3 88,551,185 (GRCm39) missense probably benign 0.01
R4732:Arhgef2 UTSW 3 88,539,247 (GRCm39) nonsense probably null
R4733:Arhgef2 UTSW 3 88,539,247 (GRCm39) nonsense probably null
R4837:Arhgef2 UTSW 3 88,540,250 (GRCm39) missense probably damaging 1.00
R4952:Arhgef2 UTSW 3 88,549,769 (GRCm39) missense probably damaging 1.00
R5152:Arhgef2 UTSW 3 88,536,875 (GRCm39) splice site probably null
R5194:Arhgef2 UTSW 3 88,542,956 (GRCm39) missense probably damaging 1.00
R5250:Arhgef2 UTSW 3 88,540,955 (GRCm39) critical splice donor site probably null
R5334:Arhgef2 UTSW 3 88,553,636 (GRCm39) missense probably damaging 0.96
R5514:Arhgef2 UTSW 3 88,550,304 (GRCm39) missense probably benign 0.01
R5560:Arhgef2 UTSW 3 88,541,744 (GRCm39) missense probably damaging 0.97
R5595:Arhgef2 UTSW 3 88,550,283 (GRCm39) missense probably benign 0.00
R5879:Arhgef2 UTSW 3 88,550,924 (GRCm39) splice site probably null
R5910:Arhgef2 UTSW 3 88,542,327 (GRCm39) missense probably damaging 1.00
R5914:Arhgef2 UTSW 3 88,543,176 (GRCm39) missense probably benign
R5918:Arhgef2 UTSW 3 88,543,387 (GRCm39) missense probably damaging 1.00
R6181:Arhgef2 UTSW 3 88,542,927 (GRCm39) missense probably damaging 1.00
R6489:Arhgef2 UTSW 3 88,550,321 (GRCm39) missense probably damaging 1.00
R7167:Arhgef2 UTSW 3 88,551,179 (GRCm39) missense possibly damaging 0.56
R7289:Arhgef2 UTSW 3 88,543,192 (GRCm39) missense probably benign
R7318:Arhgef2 UTSW 3 88,539,610 (GRCm39) missense probably damaging 0.98
R7353:Arhgef2 UTSW 3 88,542,993 (GRCm39) missense possibly damaging 0.94
R7402:Arhgef2 UTSW 3 88,540,873 (GRCm39) missense probably damaging 1.00
R7441:Arhgef2 UTSW 3 88,551,262 (GRCm39) missense probably damaging 0.96
R7899:Arhgef2 UTSW 3 88,528,569 (GRCm39) missense probably damaging 1.00
R7934:Arhgef2 UTSW 3 88,537,221 (GRCm39) missense probably damaging 1.00
R8002:Arhgef2 UTSW 3 88,554,117 (GRCm39) missense probably damaging 1.00
R8254:Arhgef2 UTSW 3 88,549,910 (GRCm39) missense probably damaging 1.00
R8297:Arhgef2 UTSW 3 88,546,739 (GRCm39) missense probably benign 0.00
R8314:Arhgef2 UTSW 3 88,528,600 (GRCm39) missense probably benign 0.00
R8350:Arhgef2 UTSW 3 88,553,527 (GRCm39) missense probably damaging 1.00
R8450:Arhgef2 UTSW 3 88,553,527 (GRCm39) missense probably damaging 1.00
R8755:Arhgef2 UTSW 3 88,536,850 (GRCm39) missense probably benign 0.00
R9632:Arhgef2 UTSW 3 88,528,576 (GRCm39) missense probably benign 0.43
V1662:Arhgef2 UTSW 3 88,540,636 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAAAAGGGATCCTCGAACCTGTC -3'
(R):5'- AGCTCAGCTCTCCTAGATCC -3'

Sequencing Primer
(F):5'- GATCCTCGAACCTGTCCCAAGG -3'
(R):5'- TAGATCCCCGCACAGAAGCTG -3'
Posted On 2022-10-06