Incidental Mutation 'R8314:Arhgef2'
ID 641552
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 067719-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.664) question?
Stock # R8314 (G1)
Quality Score 192.009
Status Validated
Chromosome 3
Chromosomal Location 88513273-88555359 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88528600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 12 (I12N)
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: I12N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000029694
Gene: ENSMUSG00000028059
AA Change: I12N

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: I12N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000135397
Gene: ENSMUSG00000028059
AA Change: I12N

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: 98.9%
Validation Efficiency 100% (67/67)
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
1110059G10Rik T A 9: 122,777,993 (GRCm39) T84S probably benign Het
4930533K18Rik A G 10: 70,711,106 (GRCm39) T76A noncoding transcript Het
Adgrl1 C T 8: 84,665,018 (GRCm39) T1235I probably damaging Het
Ak4 C T 4: 101,320,782 (GRCm39) T197M possibly damaging Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Alox12e T C 11: 70,206,998 (GRCm39) M603V possibly damaging Het
Ap3d1 A T 10: 80,559,373 (GRCm39) I267N possibly damaging Het
Asnsd1 A T 1: 53,385,814 (GRCm39) M520K probably damaging Het
B3galt5 T C 16: 96,116,649 (GRCm39) L94P probably damaging Het
Birc2 T C 9: 7,872,942 (GRCm39) probably benign Het
Cd177 T C 7: 24,450,013 (GRCm39) S541G probably benign Het
Cdh8 T C 8: 99,898,011 (GRCm39) D434G probably damaging Het
Cdkn3 A T 14: 47,007,330 (GRCm39) silent Het
Ciita A T 16: 10,328,852 (GRCm39) R379W probably damaging Het
Cntrl T A 2: 35,065,155 (GRCm39) M2153K probably benign Het
Csmd1 A T 8: 16,208,258 (GRCm39) D1232E probably benign Het
Cyp4a30b A C 4: 115,315,535 (GRCm39) H252P probably benign Het
Dad1 G A 14: 54,491,269 (GRCm39) R11W probably damaging Het
Ddit3 A G 10: 127,131,590 (GRCm39) probably null Het
Dusp22 G A 13: 30,892,914 (GRCm39) probably benign Het
Dzank1 A G 2: 144,344,878 (GRCm39) L293P probably damaging Het
Edf1 A G 2: 25,447,977 (GRCm39) D5G probably damaging Het
Entrep3 T C 3: 89,095,453 (GRCm39) probably null Het
Ep400 T A 5: 110,903,619 (GRCm39) M327L unknown Het
Fam135a A T 1: 24,061,002 (GRCm39) H1341Q possibly damaging Het
Fbxl3 C T 14: 103,326,876 (GRCm39) V169I probably benign Het
Gm4787 A G 12: 81,425,909 (GRCm39) L83P probably damaging Het
Habp4 A G 13: 64,332,565 (GRCm39) E392G probably damaging Het
Hspg2 C A 4: 137,266,986 (GRCm39) P1997Q probably benign Het
Ints9 T C 14: 65,266,479 (GRCm39) S444P probably damaging Het
Kif18b G A 11: 102,803,900 (GRCm39) S420L probably benign Het
Klhl17 T A 4: 156,318,470 (GRCm39) M51L probably benign Het
Kmt2b C T 7: 30,278,347 (GRCm39) E1555K probably damaging Het
Malrd1 T A 2: 15,757,643 (GRCm39) D972E unknown Het
Mapk8ip3 A T 17: 25,120,748 (GRCm39) S805R probably benign Het
Mmp13 G A 9: 7,272,931 (GRCm39) C97Y probably damaging Het
Moxd1 T A 10: 24,128,438 (GRCm39) N163K possibly damaging Het
Nbea T C 3: 55,916,672 (GRCm39) I863V probably damaging Het
Nectin4 A G 1: 171,212,295 (GRCm39) T298A probably benign Het
Net1 T C 13: 3,962,672 (GRCm39) probably benign Het
Ntn1 T C 11: 68,276,450 (GRCm39) D166G probably damaging Het
Opa3 C A 7: 18,978,940 (GRCm39) A135E possibly damaging Het
Or1e31 T G 11: 73,690,568 (GRCm39) N5T noncoding transcript Het
Or4c3d T C 2: 89,882,441 (GRCm39) T76A probably benign Het
Or51v14 T C 7: 103,261,254 (GRCm39) Q102R probably damaging Het
Or5w14 A G 2: 87,541,546 (GRCm39) F235L probably benign Het
Or8g30 A G 9: 39,230,601 (GRCm39) F103S probably damaging Het
Osbpl5 T C 7: 143,248,833 (GRCm39) I608V probably benign Het
Phc1 A C 6: 122,297,937 (GRCm39) S782R unknown Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Pip5k1b T A 19: 24,332,563 (GRCm39) T374S probably benign Het
Prkaa1 A G 15: 5,208,354 (GRCm39) S541G probably damaging Het
Ptpn20 A G 14: 33,344,504 (GRCm39) N143D possibly damaging Het
Rabep1 A G 11: 70,784,486 (GRCm39) D207G possibly damaging Het
Rbbp8 G A 18: 11,853,682 (GRCm39) M296I probably benign Het
Recql4 C A 15: 76,594,380 (GRCm39) R46L probably damaging Het
Scgb2b18 T C 7: 32,872,582 (GRCm39) I74M probably benign Het
Shc4 A G 2: 125,497,536 (GRCm39) I391T possibly damaging Het
Slc38a4 A G 15: 96,908,190 (GRCm39) F184L probably benign Het
Slc7a6 A G 8: 106,895,590 (GRCm39) probably benign Het
Smim13 G T 13: 41,426,110 (GRCm39) G49* probably null Het
Tbc1d19 A G 5: 54,054,389 (GRCm39) D459G probably damaging Het
Tnpo1 T C 13: 99,021,133 (GRCm39) N82S possibly damaging Het
Tpp2 G A 1: 43,973,387 (GRCm39) V47I probably benign Het
Umodl1 G T 17: 31,203,806 (GRCm39) A540S probably damaging Het
Vmn2r83 G A 10: 79,317,313 (GRCm39) V519I possibly damaging Het
Zfp641 T C 15: 98,188,464 (GRCm39) I139V probably damaging Het
Zfyve21 A T 12: 111,789,715 (GRCm39) I60F 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
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
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'- GCAGACTGCAGCGATACTAACC -3'
(R):5'- AGCTCAGCTCTCCTAGATCC -3'

Sequencing Primer
(F):5'- CGATACTAACCCCGGCGTC -3'
(R):5'- TAGATCCCCGCACAGAAGCTG -3'
Posted On 2020-07-28