Incidental Mutation 'R4952:Arhgef2'
ID 382041
Institutional Source Beutler Lab
Gene Symbol Arhgef2
Ensembl Gene ENSMUSG00000028059
Gene Name rho/rac guanine nucleotide exchange factor (GEF) 2
Synonyms P40, Lfc, Lbcl1, GEFH1, LFP40, GEF-H1
MMRRC Submission 042549-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.595) question?
Stock # R4952 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 88605966-88648052 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88642462 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 591 (L591P)
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 damaging
Transcript: ENSMUST00000029694
AA Change: L608P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029694
Gene: ENSMUSG00000028059
AA Change: L608P

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 damaging
Transcript: ENSMUST00000107510
AA Change: L581P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103134
Gene: ENSMUSG00000028059
AA Change: L581P

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 damaging
Transcript: ENSMUST00000170653
AA Change: L579P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127843
Gene: ENSMUSG00000028059
AA Change: L579P

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 damaging
Transcript: ENSMUST00000175779
AA Change: L593P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135177
Gene: ENSMUSG00000028059
AA Change: L593P

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 damaging
Transcript: ENSMUST00000175903
AA Change: L591P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135168
Gene: ENSMUSG00000028059
AA Change: L591P

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 probably damaging
Transcript: ENSMUST00000176500
AA Change: L593P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134834
Gene: ENSMUSG00000028059
AA Change: L593P

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 damaging
Transcript: ENSMUST00000176804
AA Change: L606P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135397
Gene: ENSMUSG00000028059
AA Change: L606P

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 noncoding transcript
Transcript: ENSMUST00000177091
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177099
Predicted Effect probably damaging
Transcript: ENSMUST00000177303
AA Change: L579P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135131
Gene: ENSMUSG00000028059
AA Change: L579P

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 damaging
Transcript: ENSMUST00000177498
AA Change: L591P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134840
Gene: ENSMUSG00000028059
AA Change: L591P

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
Meta Mutation Damage Score 0.9209 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 99% (93/94)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A G 5: 109,739,197 (GRCm38) probably null Het
4933421I07Rik T C 7: 42,447,659 (GRCm38) Y76C possibly damaging Het
Adcy4 C T 14: 55,779,029 (GRCm38) D322N probably damaging Het
Ak9 A G 10: 41,420,589 (GRCm38) M1444V probably benign Het
Amfr A G 8: 93,973,159 (GRCm38) probably benign Het
Ankef1 A G 2: 136,550,529 (GRCm38) E546G probably damaging Het
Ankrd24 A G 10: 81,647,148 (GRCm38) M977V probably benign Het
Ap3m1 A T 14: 21,040,066 (GRCm38) S5T probably benign Het
Aqr C A 2: 114,109,937 (GRCm38) D1243Y probably damaging Het
Arid4a C A 12: 71,023,525 (GRCm38) T70K possibly damaging Het
Asphd1 C T 7: 126,948,685 (GRCm38) A149T probably benign Het
Avpr1a T A 10: 122,449,754 (GRCm38) M317K probably damaging Het
Birc2 T C 9: 7,836,740 (GRCm38) I109V probably damaging Het
Catsperd A G 17: 56,632,303 (GRCm38) Y44C probably damaging Het
Ccdc114 A C 7: 45,942,191 (GRCm38) E293A probably damaging Het
Crygb T G 1: 65,082,109 (GRCm38) S20R probably benign Het
Cyp3a25 T C 5: 145,991,524 (GRCm38) N237S probably benign Het
Dkk3 C T 7: 112,118,351 (GRCm38) A304T probably benign Het
Dst T C 1: 34,271,422 (GRCm38) L4101S probably damaging Het
Dysf A G 6: 84,149,986 (GRCm38) N1407S possibly damaging Het
Epb41 A G 4: 132,000,270 (GRCm38) V265A probably damaging Het
Faim2 C T 15: 99,521,228 (GRCm38) E75K possibly damaging Het
Fbn1 T A 2: 125,317,534 (GRCm38) D2208V probably damaging Het
Fbxo28 A G 1: 182,326,385 (GRCm38) S129P probably damaging Het
Fbxw14 T A 9: 109,276,201 (GRCm38) I299L probably benign Het
Fras1 C T 5: 96,647,498 (GRCm38) A1050V probably benign Het
Fyb C A 15: 6,638,811 (GRCm38) T495K probably damaging Het
Ghdc A T 11: 100,769,151 (GRCm38) W257R probably damaging Het
Gm10719 T C 9: 3,018,962 (GRCm38) L69S probably benign Het
Gm11492 A G 11: 87,567,772 (GRCm38) N324S probably benign Het
Gm12250 G T 11: 58,188,384 (GRCm38) noncoding transcript Het
Gm4846 A T 1: 166,483,934 (GRCm38) F452Y probably damaging Het
Gm8773 T A 5: 5,575,387 (GRCm38) F28I probably benign Het
Gm884 T C 11: 103,614,207 (GRCm38) T2312A possibly damaging Het
Gpbp1 T C 13: 111,440,750 (GRCm38) D202G probably damaging Het
Gpd2 C A 2: 57,307,013 (GRCm38) Y193* probably null Het
Grhl2 G T 15: 37,287,249 (GRCm38) R229L probably benign Het
Gtf2a1 A G 12: 91,575,749 (GRCm38) F59L possibly damaging Het
Heatr1 G T 13: 12,410,599 (GRCm38) W640L probably benign Het
Kalrn A T 16: 34,357,415 (GRCm38) probably null Het
Keap1 T C 9: 21,237,286 (GRCm38) T142A probably damaging Het
Kpna2 G A 11: 106,991,235 (GRCm38) T255M probably damaging Het
Kpna3 A G 14: 61,370,389 (GRCm38) C456R probably damaging Het
Lama1 G A 17: 67,767,566 (GRCm38) probably null Het
Mag C A 7: 30,909,156 (GRCm38) E178* probably null Het
Map3k13 A G 16: 21,911,019 (GRCm38) I467V probably benign Het
Mga A G 2: 119,903,301 (GRCm38) E210G probably damaging Het
Msi2 C T 11: 88,366,784 (GRCm38) probably null Het
Naa16 A T 14: 79,345,085 (GRCm38) D521E probably damaging Het
Nav2 C T 7: 49,304,540 (GRCm38) probably benign Het
Nek10 T A 14: 14,860,986 (GRCm38) L513M possibly damaging Het
Nek5 T A 8: 22,079,088 (GRCm38) I573L probably benign Het
Nek5 T C 8: 22,096,799 (GRCm38) K332R probably benign Het
Ntn1 CCTTCTTCT CCTTCT 11: 68,213,026 (GRCm38) probably benign Het
Olfr111 A T 17: 37,530,750 (GRCm38) T258S possibly damaging Het
Olfr263 G A 13: 21,133,344 (GRCm38) V190I probably benign Het
Olfr773 T A 10: 129,186,597 (GRCm38) T275S probably benign Het
Olfr875 T A 9: 37,773,064 (GRCm38) M135K probably damaging Het
Orai1 T G 5: 123,029,250 (GRCm38) V162G probably damaging Het
P2rx6 T C 16: 17,567,444 (GRCm38) S134P probably damaging Het
Pappa2 G A 1: 158,857,136 (GRCm38) T811I probably null Het
Pcdhga10 T C 18: 37,747,160 (GRCm38) probably benign Het
Pex16 C T 2: 92,379,060 (GRCm38) R241* probably null Het
Plxnb1 T C 9: 109,114,836 (GRCm38) F1969L probably damaging Het
Postn A G 3: 54,390,315 (GRCm38) probably benign Het
Prdm15 A T 16: 97,806,077 (GRCm38) I752N probably damaging Het
Rasgef1c A T 11: 49,979,512 (GRCm38) K468M probably damaging Het
Rbfox1 A G 16: 7,277,088 (GRCm38) S111G probably benign Het
Rbm28 T C 6: 29,138,598 (GRCm38) D405G probably damaging Het
Rell1 A G 5: 63,939,667 (GRCm38) probably benign Het
Rfx3 A G 19: 27,830,672 (GRCm38) S224P probably damaging Het
Scarb2 A T 5: 92,454,777 (GRCm38) I260K probably damaging Het
Slc15a4 A G 5: 127,603,837 (GRCm38) F72L probably damaging Het
Spg7 C A 8: 123,090,171 (GRCm38) R534S probably damaging Het
Stoml2 T C 4: 43,029,589 (GRCm38) T164A probably benign Het
Syt11 C T 3: 88,762,283 (GRCm38) G101S possibly damaging Het
Traj12 A G 14: 54,206,556 (GRCm38) probably benign Het
Traj7 A T 14: 54,211,524 (GRCm38) probably benign Het
Tysnd1 C T 10: 61,702,076 (GRCm38) T175I possibly damaging Het
Usp48 T G 4: 137,606,693 (GRCm38) Y139* probably null Het
Vmn2r72 A G 7: 85,751,109 (GRCm38) L244P probably benign Het
Wasf1 C A 10: 40,936,190 (GRCm38) P325Q unknown Het
Zc3h18 T A 8: 122,410,900 (GRCm38) probably benign Het
Zfp712 A G 13: 67,040,841 (GRCm38) S541P possibly damaging Het
Other mutations in Arhgef2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01913:Arhgef2 APN 3 88,631,919 (GRCm38) missense probably damaging 1.00
IGL02165:Arhgef2 APN 3 88,646,220 (GRCm38) missense probably damaging 1.00
monument UTSW 3 88,633,648 (GRCm38) critical splice donor site probably null
R0090:Arhgef2 UTSW 3 88,639,348 (GRCm38) missense probably damaging 1.00
R0330:Arhgef2 UTSW 3 88,642,501 (GRCm38) missense probably damaging 1.00
R0414:Arhgef2 UTSW 3 88,632,268 (GRCm38) splice site probably benign
R0631:Arhgef2 UTSW 3 88,634,436 (GRCm38) missense probably damaging 0.99
R1635:Arhgef2 UTSW 3 88,639,321 (GRCm38) critical splice acceptor site probably null
R1688:Arhgef2 UTSW 3 88,640,300 (GRCm38) missense probably benign 0.32
R1751:Arhgef2 UTSW 3 88,643,953 (GRCm38) missense probably damaging 1.00
R1767:Arhgef2 UTSW 3 88,643,953 (GRCm38) missense probably damaging 1.00
R1836:Arhgef2 UTSW 3 88,639,459 (GRCm38) missense probably damaging 1.00
R1853:Arhgef2 UTSW 3 88,632,915 (GRCm38) missense possibly damaging 0.48
R1934:Arhgef2 UTSW 3 88,629,791 (GRCm38) missense probably damaging 0.96
R2155:Arhgef2 UTSW 3 88,636,044 (GRCm38) missense probably damaging 1.00
R2206:Arhgef2 UTSW 3 88,629,914 (GRCm38) missense probably damaging 1.00
R2360:Arhgef2 UTSW 3 88,634,416 (GRCm38) missense probably damaging 1.00
R3916:Arhgef2 UTSW 3 88,633,033 (GRCm38) missense probably damaging 1.00
R4090:Arhgef2 UTSW 3 88,643,878 (GRCm38) missense probably benign 0.01
R4732:Arhgef2 UTSW 3 88,631,940 (GRCm38) nonsense probably null
R4733:Arhgef2 UTSW 3 88,631,940 (GRCm38) nonsense probably null
R4837:Arhgef2 UTSW 3 88,632,943 (GRCm38) missense probably damaging 1.00
R5152:Arhgef2 UTSW 3 88,629,568 (GRCm38) splice site probably null
R5194:Arhgef2 UTSW 3 88,635,649 (GRCm38) missense probably damaging 1.00
R5250:Arhgef2 UTSW 3 88,633,648 (GRCm38) critical splice donor site probably null
R5334:Arhgef2 UTSW 3 88,646,329 (GRCm38) missense probably damaging 0.96
R5514:Arhgef2 UTSW 3 88,642,997 (GRCm38) missense probably benign 0.01
R5560:Arhgef2 UTSW 3 88,634,437 (GRCm38) missense probably damaging 0.97
R5595:Arhgef2 UTSW 3 88,642,976 (GRCm38) missense probably benign 0.00
R5879:Arhgef2 UTSW 3 88,643,617 (GRCm38) splice site probably null
R5910:Arhgef2 UTSW 3 88,635,020 (GRCm38) missense probably damaging 1.00
R5914:Arhgef2 UTSW 3 88,635,869 (GRCm38) missense probably benign
R5918:Arhgef2 UTSW 3 88,636,080 (GRCm38) missense probably damaging 1.00
R6181:Arhgef2 UTSW 3 88,635,620 (GRCm38) missense probably damaging 1.00
R6489:Arhgef2 UTSW 3 88,643,014 (GRCm38) missense probably damaging 1.00
R7167:Arhgef2 UTSW 3 88,643,872 (GRCm38) missense possibly damaging 0.56
R7289:Arhgef2 UTSW 3 88,635,885 (GRCm38) missense probably benign
R7318:Arhgef2 UTSW 3 88,632,303 (GRCm38) missense probably damaging 0.98
R7353:Arhgef2 UTSW 3 88,635,686 (GRCm38) missense possibly damaging 0.94
R7402:Arhgef2 UTSW 3 88,633,566 (GRCm38) missense probably damaging 1.00
R7441:Arhgef2 UTSW 3 88,643,955 (GRCm38) missense probably damaging 0.96
R7899:Arhgef2 UTSW 3 88,621,262 (GRCm38) missense probably damaging 1.00
R7934:Arhgef2 UTSW 3 88,629,914 (GRCm38) missense probably damaging 1.00
R8002:Arhgef2 UTSW 3 88,646,810 (GRCm38) missense probably damaging 1.00
R8254:Arhgef2 UTSW 3 88,642,603 (GRCm38) missense probably damaging 1.00
R8297:Arhgef2 UTSW 3 88,639,432 (GRCm38) missense probably benign 0.00
R8314:Arhgef2 UTSW 3 88,621,293 (GRCm38) missense probably benign 0.00
R8350:Arhgef2 UTSW 3 88,646,220 (GRCm38) missense probably damaging 1.00
R8450:Arhgef2 UTSW 3 88,646,220 (GRCm38) missense probably damaging 1.00
R8755:Arhgef2 UTSW 3 88,629,543 (GRCm38) missense probably benign 0.00
R9632:Arhgef2 UTSW 3 88,621,269 (GRCm38) missense probably benign 0.43
R9710:Arhgef2 UTSW 3 88,621,269 (GRCm38) missense probably benign 0.43
V1662:Arhgef2 UTSW 3 88,633,329 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGCTGACCCTGAGCTATC -3'
(R):5'- AACCCAACTCCTTTATGGGTTGTG -3'

Sequencing Primer
(F):5'- TGAGCTATCCCTCTGCTGAC -3'
(R):5'- TGAGTGAACAGCCTAGACTCTTCAG -3'
Posted On 2016-04-27