Incidental Mutation 'R7167:Arhgef2'
ID 557970
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 045228-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.664) question?
Stock # R7167 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 88513273-88555359 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88551179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 780 (N780S)
Ref Sequence ENSEMBL: ENSMUSP00000029694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029694] [ENSMUST00000107510] [ENSMUST00000170653] [ENSMUST00000175779] [ENSMUST00000175903] [ENSMUST00000175911] [ENSMUST00000176500] [ENSMUST00000176804] [ENSMUST00000177303] [ENSMUST00000177498]
AlphaFold Q60875
Predicted Effect possibly damaging
Transcript: ENSMUST00000029694
AA Change: N780S

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029694
Gene: ENSMUSG00000028059
AA Change: N780S

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 possibly damaging
Transcript: ENSMUST00000107510
AA Change: N753S

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103134
Gene: ENSMUSG00000028059
AA Change: N753S

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 possibly damaging
Transcript: ENSMUST00000170653
AA Change: N751S

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000127843
Gene: ENSMUSG00000028059
AA Change: N751S

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
AA Change: N765S

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000135177
Gene: ENSMUSG00000028059
AA Change: N765S

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
AA Change: N763S

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000135168
Gene: ENSMUSG00000028059
AA Change: N763S

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: ENSMUST00000176500
AA Change: N765S

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000134834
Gene: ENSMUSG00000028059
AA Change: N765S

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: ENSMUST00000176804
AA Change: N778S

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000135397
Gene: ENSMUSG00000028059
AA Change: N778S

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: ENSMUST00000177303
AA Change: N751S

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000135131
Gene: ENSMUSG00000028059
AA Change: N751S

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 possibly damaging
Transcript: ENSMUST00000177498
AA Change: N763S

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134840
Gene: ENSMUSG00000028059
AA Change: N763S

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 94% (65/69)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,624,930 (GRCm39) V436A probably benign Het
Abcc5 T C 16: 20,224,251 (GRCm39) T111A possibly damaging Het
Acsbg2 T A 17: 57,164,000 (GRCm39) D203V probably benign Het
Alpk2 G T 18: 65,440,049 (GRCm39) T448K probably benign Het
Atxn2l T C 7: 126,098,394 (GRCm39) N252S possibly damaging Het
Bmpr1b A T 3: 141,568,841 (GRCm39) L163Q probably benign Het
Clca3a2 T C 3: 144,803,545 (GRCm39) R100G probably benign Het
Col2a1 A G 15: 97,898,337 (GRCm39) I79T unknown Het
Csmd1 A G 8: 15,976,524 (GRCm39) V2898A probably benign Het
Cux1 G A 5: 136,338,895 (GRCm39) probably null Het
Cyp2u1 A G 3: 131,096,773 (GRCm39) S2P probably benign Het
Daam1 C A 12: 72,035,678 (GRCm39) H958N probably damaging Het
Dnah7a C T 1: 53,542,935 (GRCm39) V2412I probably benign Het
Ergic2 T C 6: 148,108,133 (GRCm39) R2G probably damaging Het
Fat2 T C 11: 55,175,827 (GRCm39) T1629A possibly damaging Het
Ftl1 T A 7: 45,109,202 (GRCm39) probably benign Het
Fut8 T C 12: 77,495,406 (GRCm39) V332A possibly damaging Het
Gm28363 T C 1: 117,655,119 (GRCm39) S113P probably damaging Het
Hfe A T 13: 23,892,052 (GRCm39) V104E probably damaging Het
Ifih1 A T 2: 62,429,240 (GRCm39) N899K probably benign Het
Krt75 A G 15: 101,476,750 (GRCm39) S380P possibly damaging Het
Meiob T G 17: 25,055,419 (GRCm39) F409V probably damaging Het
Mkrn2os A T 6: 115,562,474 (GRCm39) I163N probably damaging Het
Nanos1 G T 19: 60,745,046 (GRCm39) G115W probably damaging Het
Naprt C T 15: 75,764,461 (GRCm39) A276T probably damaging Het
Oas1e G T 5: 120,933,487 (GRCm39) T26N probably benign Het
Oog2 T G 4: 143,921,745 (GRCm39) D218E probably benign Het
Optn T C 2: 5,047,294 (GRCm39) N207S probably benign Het
Or13a20 T A 7: 140,232,466 (GRCm39) C191* probably null Het
Or1l8 T C 2: 36,817,533 (GRCm39) I198V probably benign Het
Or4g16 T C 2: 111,136,793 (GRCm39) M81T probably benign Het
Or4p18 A G 2: 88,232,552 (GRCm39) V242A possibly damaging Het
Or6c63-ps1 T G 10: 128,899,141 (GRCm39) Q245P probably damaging Het
Or6c66b T C 10: 129,376,607 (GRCm39) L67P possibly damaging Het
Or8g4 T C 9: 39,661,865 (GRCm39) F61S probably damaging Het
Oxnad1 G T 14: 31,822,976 (GRCm39) E236* probably null Het
Pcdha3 G A 18: 37,080,046 (GRCm39) A263T probably damaging Het
Pex13 A T 11: 23,605,472 (GRCm39) W253R possibly damaging Het
Pip5k1b T A 19: 24,374,433 (GRCm39) E49D probably benign Het
Plau C A 14: 20,889,518 (GRCm39) F194L possibly damaging Het
Ppm1n A G 7: 19,013,666 (GRCm39) L95S probably damaging Het
Pramel40 G A 5: 94,464,984 (GRCm39) A457T possibly damaging Het
Radil G T 5: 142,471,260 (GRCm39) probably null Het
Ralgapa2 C T 2: 146,190,374 (GRCm39) M1266I probably benign Het
Reln A T 5: 22,147,618 (GRCm39) L2444Q probably damaging Het
Rims2 T C 15: 39,300,473 (GRCm39) V260A probably benign Het
Rnase2b T A 14: 51,400,222 (GRCm39) V101E probably damaging Het
Rtp3 T A 9: 110,815,772 (GRCm39) T198S probably benign Het
Shisal2b A G 13: 105,000,166 (GRCm39) V19A probably damaging Het
Smad3 T A 9: 63,573,435 (GRCm39) D201V probably benign Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Spata7 T G 12: 98,630,555 (GRCm39) F371C probably damaging Het
Stag1 T G 9: 100,827,942 (GRCm39) N990K probably benign Het
Tbx18 C T 9: 87,589,883 (GRCm39) A352T probably damaging Het
Thada C T 17: 84,538,391 (GRCm39) R1539Q probably benign Het
Thrap3 A C 4: 126,078,920 (GRCm39) probably benign Het
Tnks G A 8: 35,316,458 (GRCm39) T887M probably damaging Het
Trap1 A C 16: 3,870,792 (GRCm39) V393G probably damaging Het
Trpm4 A G 7: 44,977,143 (GRCm39) probably null Het
Trrap G T 5: 144,776,424 (GRCm39) G3007C probably benign Het
U2surp A T 9: 95,363,726 (GRCm39) N611K probably damaging Het
Usp12 A G 5: 146,705,745 (GRCm39) probably null Het
Vmn1r200 A G 13: 22,579,487 (GRCm39) T97A possibly damaging Het
Vmn2r110 C T 17: 20,794,441 (GRCm39) V743I probably benign Het
Vps50 C T 6: 3,600,256 (GRCm39) T905M probably damaging Het
Wdr48 T A 9: 119,736,855 (GRCm39) probably null Het
Zfp446 C T 7: 12,712,049 (GRCm39) probably benign Het
Zfr T C 15: 12,181,015 (GRCm39) S1012P probably benign 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
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
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'- GAGTTAAGCTCTCTGGGACC -3'
(R):5'- CTCAAGTATAAAGCGTCGCCC -3'

Sequencing Primer
(F):5'- TGGGACCCGGGGATTGAG -3'
(R):5'- GGCTCGTTTTGGCCCAAG -3'
Posted On 2019-06-26