Incidental Mutation 'R7899:Arhgef2'
ID 609867
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 045951-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.664) question?
Stock # R7899 (G1)
Quality Score 183.009
Status Validated
Chromosome 3
Chromosomal Location 88513273-88555359 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88528569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 2 (S2P)
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 damaging
Transcript: ENSMUST00000029694
AA Change: S2P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029694
Gene: ENSMUSG00000028059
AA Change: S2P

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 damaging
Transcript: ENSMUST00000176804
AA Change: S2P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135397
Gene: ENSMUSG00000028059
AA Change: S2P

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: 98.8%
Validation Efficiency 97% (70/72)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500011B03Rik T C 5: 114,947,381 (GRCm39) T49A possibly damaging Het
A530084C06Rik G T 13: 31,742,978 (GRCm39) R92S unknown Het
Aagab T C 9: 63,524,132 (GRCm39) F80L probably benign Het
Aox1 A G 1: 58,320,396 (GRCm39) probably null Het
Bcar3 T G 3: 122,301,902 (GRCm39) V199G probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cacna1a G A 8: 85,320,802 (GRCm39) V1587M possibly damaging Het
Caps2 C A 10: 112,001,666 (GRCm39) S19Y possibly damaging Het
Ccdc196 A G 12: 78,244,196 (GRCm39) N50D Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Cobll1 A G 2: 64,956,275 (GRCm39) C328R probably damaging Het
Colec11 A C 12: 28,645,281 (GRCm39) V130G probably damaging Het
Dennd5b A T 6: 148,943,159 (GRCm39) D572E probably damaging Het
Dido1 A T 2: 180,313,390 (GRCm39) S961T possibly damaging Het
Dnah7c A T 1: 46,553,861 (GRCm39) M380L probably benign Het
Dnai2 T C 11: 114,629,456 (GRCm39) I161T probably benign Het
Dnttip2 T A 3: 122,076,018 (GRCm39) M650K probably damaging Het
Dpp6 C T 5: 27,926,077 (GRCm39) P717L probably benign Het
Epha10 A G 4: 124,808,628 (GRCm39) E759G Het
Frmd4a T C 2: 4,608,900 (GRCm39) W923R probably damaging Het
Ftsj3 C A 11: 106,143,115 (GRCm39) E400* probably null Het
Gabra4 C A 5: 71,815,338 (GRCm39) probably benign Het
Gfm1 T A 3: 67,380,860 (GRCm39) N658K probably benign Het
Gm21560 A T 14: 6,218,220 (GRCm38) I86N probably damaging Het
Gpr68 C A 12: 100,844,707 (GRCm39) C279F probably damaging Het
Hspg2 G A 4: 137,275,427 (GRCm39) A2752T possibly damaging Het
Hydin A T 8: 111,314,380 (GRCm39) D4288V probably benign Het
Ift74 A G 4: 94,510,214 (GRCm39) T82A possibly damaging Het
Ints7 T A 1: 191,353,427 (GRCm39) W918R probably damaging Het
Kcnc1 T A 7: 46,077,245 (GRCm39) I349N probably damaging Het
Loxl1 C T 9: 58,198,117 (GRCm39) D580N probably damaging Het
Mlph A T 1: 90,869,485 (GRCm39) R496* probably null Het
Mtdh A G 15: 34,123,865 (GRCm39) D364G possibly damaging Het
Mtmr11 C A 3: 96,077,744 (GRCm39) L580I probably damaging Het
Muc16 T C 9: 18,551,993 (GRCm39) I4767V probably benign Het
Muc21 TCAGGGTGGGGGTAGAGCCTGAGCCACTGCTAGATGCAGTGGTGGGCAGGGTGGGGGTAGAGCCTGAG TCAGGGTGGGGGTAGAGCCTGAG 17: 35,931,493 (GRCm39) probably benign Het
Myot A G 18: 44,487,251 (GRCm39) T363A probably benign Het
Nfxl1 G A 5: 72,681,558 (GRCm39) P658S probably damaging Het
Nhlrc3 A C 3: 53,369,080 (GRCm39) S120A probably benign Het
Nmur2 C A 11: 55,931,161 (GRCm39) Q183H probably benign Het
Nucb2 T A 7: 116,121,205 (GRCm39) I45K probably benign Het
Nup155 A T 15: 8,148,663 (GRCm39) D277V probably damaging Het
Or5ak25 T C 2: 85,268,741 (GRCm39) T254A probably benign Het
Orc1 T G 4: 108,460,568 (GRCm39) probably null Het
Panx2 A G 15: 88,952,936 (GRCm39) T468A possibly damaging Het
Pcdh7 A G 5: 57,877,152 (GRCm39) S236G probably benign Het
Pcdhga2 G C 18: 37,803,910 (GRCm39) G585R probably damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pgr T G 9: 8,903,743 (GRCm39) M588R probably benign Het
Ptpn18 A T 1: 34,508,986 (GRCm39) probably null Het
Rbm8a2 T A 1: 175,806,207 (GRCm39) H90L probably benign Het
Ryr3 A T 2: 112,477,295 (GRCm39) L4507Q possibly damaging Het
Serpina12 A G 12: 104,004,524 (GRCm39) V36A probably benign Het
Sis T A 3: 72,844,584 (GRCm39) S717C probably damaging Het
Slit2 A G 5: 48,404,527 (GRCm39) E846G possibly damaging Het
Smr3a C T 5: 88,156,086 (GRCm39) H85Y unknown Het
Sned1 G C 1: 93,201,804 (GRCm39) R590P probably benign Het
Spata31h1 A G 10: 82,118,731 (GRCm39) S4760P unknown Het
Sting1 A G 18: 35,867,626 (GRCm39) S357P probably damaging Het
Sult2a7 A G 7: 14,199,134 (GRCm39) Y298H probably damaging Het
Syn3 A G 10: 85,900,793 (GRCm39) V365A possibly damaging Het
Syne1 A T 10: 5,177,956 (GRCm39) Y4839* probably null Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Tbl3 G T 17: 24,921,458 (GRCm39) H478N probably damaging Het
Tcirg1 A T 19: 3,949,104 (GRCm39) I395N probably damaging Het
Ticrr T C 7: 79,319,233 (GRCm39) I406T probably benign Het
Tmem120a C A 5: 135,766,052 (GRCm39) K123N probably benign Het
Tmem184c A G 8: 78,324,440 (GRCm39) V350A probably damaging Het
Tmem70 G T 1: 16,747,268 (GRCm39) M128I probably benign Het
Tmx3 A T 18: 90,545,998 (GRCm39) probably null Het
Topors G C 4: 40,260,356 (GRCm39) S976W unknown Het
Trp53 T C 11: 69,481,519 (GRCm39) L341P probably damaging Het
Usp14 T C 18: 10,000,563 (GRCm39) K366E possibly damaging Het
Zbtb49 G T 5: 38,371,274 (GRCm39) C202* probably null Het
Zkscan5 A C 5: 145,157,676 (GRCm39) H726P probably 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
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
R9710: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'- AAGGGATCCTCGAACCTGTC -3'
(R):5'- TAACCCAGCTCAGCTCTCCTAG -3'

Sequencing Primer
(F):5'- GATCCTCGAACCTGTCCCAAGG -3'
(R):5'- TAGATCCCCGCACAGAAGCTG -3'
Posted On 2019-12-20