Incidental Mutation 'R5514:Arhgef2'
ID 440217
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 043074-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.664) question?
Stock # R5514 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 88513273-88555359 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 88550304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 670 (P670T)
Ref Sequence ENSEMBL: ENSMUSP00000134840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029694] [ENSMUST00000107510] [ENSMUST00000170653] [ENSMUST00000175779] [ENSMUST00000175903] [ENSMUST00000175911] [ENSMUST00000176500] [ENSMUST00000176804] [ENSMUST00000177303] [ENSMUST00000177498]
AlphaFold Q60875
Predicted Effect probably benign
Transcript: ENSMUST00000029694
AA Change: P687T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000029694
Gene: ENSMUSG00000028059
AA Change: P687T

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
AA Change: P660T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000103134
Gene: ENSMUSG00000028059
AA Change: P660T

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
AA Change: P658T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000127843
Gene: ENSMUSG00000028059
AA Change: P658T

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: P672T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000135177
Gene: ENSMUSG00000028059
AA Change: P672T

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: P670T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000135168
Gene: ENSMUSG00000028059
AA Change: P670T

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 noncoding transcript
Transcript: ENSMUST00000176272
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177099
Predicted Effect probably benign
Transcript: ENSMUST00000176500
AA Change: P672T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000134834
Gene: ENSMUSG00000028059
AA Change: P672T

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: P685T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000135397
Gene: ENSMUSG00000028059
AA Change: P685T

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: P658T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000135131
Gene: ENSMUSG00000028059
AA Change: P658T

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
AA Change: P670T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000134840
Gene: ENSMUSG00000028059
AA Change: P670T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177418
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 T C 12: 21,390,520 (GRCm39) S382G probably damaging Het
Agr2 G A 12: 36,046,090 (GRCm39) V74I probably benign Het
Aldh3a1 T C 11: 61,108,867 (GRCm39) S423P probably damaging Het
Ampd1 C T 3: 102,986,488 (GRCm39) H56Y possibly damaging Het
Blk T G 14: 63,615,930 (GRCm39) D333A probably damaging Het
Bmi1 T C 2: 18,686,714 (GRCm39) I31T probably damaging Het
Cacna1d G A 14: 30,072,790 (GRCm39) Q62* probably null Het
Ccdc88c A G 12: 100,879,698 (GRCm39) S1801P probably damaging Het
Cdkal1 C T 13: 29,961,270 (GRCm39) A100T probably damaging Het
Cfap251 G T 5: 123,425,829 (GRCm39) probably null Het
Chst4 G T 8: 110,756,606 (GRCm39) S419Y probably damaging Het
Cntn4 T C 6: 106,649,844 (GRCm39) I680T probably damaging Het
Ddx55 T C 5: 124,694,875 (GRCm39) V101A probably damaging Het
Ddx60 A T 8: 62,411,091 (GRCm39) E451V probably damaging Het
Dffa T A 4: 149,190,772 (GRCm39) probably null Het
Dgkd A G 1: 87,861,832 (GRCm39) R796G probably damaging Het
Dzank1 T A 2: 144,323,605 (GRCm39) M614L probably benign Het
Elf2 G T 3: 51,215,555 (GRCm39) Q52K probably damaging Het
Fcamr T A 1: 130,741,793 (GRCm39) L522Q probably damaging Het
Fscn2 T C 11: 120,258,858 (GRCm39) Y468H probably damaging Het
Gm12689 T C 4: 99,184,402 (GRCm39) I85T unknown Het
Gm4787 A G 12: 81,425,102 (GRCm39) V352A possibly damaging Het
Gtsf1 T C 15: 103,336,802 (GRCm39) Q13R probably benign Het
Itpkb G A 1: 180,241,474 (GRCm39) V715M probably damaging Het
Jmjd1c T A 10: 67,053,928 (GRCm39) S263T probably damaging Het
Krba1 T G 6: 48,390,429 (GRCm39) L736R probably damaging Het
Lrrc8d C G 5: 105,960,650 (GRCm39) F353L probably damaging Het
Lrrc8d G A 5: 105,960,651 (GRCm39) E354K probably benign Het
Mtor T A 4: 148,630,901 (GRCm39) V2286E probably damaging Het
Mybbp1a T A 11: 72,341,462 (GRCm39) V1100E possibly damaging Het
Myo5a G A 9: 75,061,048 (GRCm39) G518D probably damaging Het
Nalcn A T 14: 123,521,123 (GRCm39) I1594N probably benign Het
Nav1 C G 1: 135,398,299 (GRCm39) G761A probably benign Het
Ncoa2 A T 1: 13,251,445 (GRCm39) L276H probably damaging Het
Ndufaf7 T C 17: 79,245,051 (GRCm39) Y57H probably damaging Het
Nfkb2 A G 19: 46,299,847 (GRCm39) Y807C probably damaging Het
Nid2 A T 14: 19,852,535 (GRCm39) Q1081L probably damaging Het
Nkain2 T A 10: 31,827,189 (GRCm39) I134F probably damaging Het
Nmu A C 5: 76,497,979 (GRCm39) S69A probably damaging Het
Or4c15b A T 2: 89,112,817 (GRCm39) I220N probably damaging Het
Or5t7 T C 2: 86,507,225 (GRCm39) I151V probably benign Het
Pard3 A G 8: 128,153,086 (GRCm39) R886G probably damaging Het
Pde6b G T 5: 108,571,317 (GRCm39) Q423H probably benign Het
Pip5k1b A T 19: 24,327,505 (GRCm39) D450E probably damaging Het
Plcg1 T C 2: 160,595,275 (GRCm39) probably null Het
Pnpt1 T C 11: 29,103,246 (GRCm39) S504P possibly damaging Het
Pomt2 A T 12: 87,175,797 (GRCm39) D312E probably damaging Het
Ppp1r1b T C 11: 98,246,228 (GRCm39) L70P probably damaging Het
Prr5 C A 15: 84,587,096 (GRCm39) P282Q probably benign Het
Reln A T 5: 22,176,883 (GRCm39) W1928R possibly damaging Het
Sacm1l A T 9: 123,415,419 (GRCm39) R465* probably null Het
Sema7a A G 9: 57,863,046 (GRCm39) Y239C probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Svep1 T C 4: 58,044,054 (GRCm39) T3531A possibly damaging Het
Tjp1 A T 7: 65,004,609 (GRCm39) W19R probably damaging Het
Tmc2 T A 2: 130,083,564 (GRCm39) M507K possibly damaging Het
Unc13a A G 8: 72,095,795 (GRCm39) Y1241H probably damaging Het
Upp1 C T 11: 9,081,771 (GRCm39) P103S probably damaging Het
Vldlr A G 19: 27,221,624 (GRCm39) E663G probably damaging Het
Vmn2r68 G A 7: 84,886,767 (GRCm39) T49I possibly damaging Het
Xirp2 A T 2: 67,335,465 (GRCm39) M95L 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
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
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'- TGTCCCTTGGATGCCACATG -3'
(R):5'- GCTCTACAGAGTTCAATGGAGC -3'

Sequencing Primer
(F):5'- CCACATGGCTGACTGAAGC -3'
(R):5'- CTCTACAGAGTTCAATGGAGCCATTG -3'
Posted On 2016-11-08