Incidental Mutation 'IGL01308:Rasgrf2'
ID73559
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rasgrf2
Ensembl Gene ENSMUSG00000021708
Gene NameRAS protein-specific guanine nucleotide-releasing factor 2
SynonymsGrf2, 6330417G04Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.278) question?
Stock #IGL01308
Quality Score
Status
Chromosome13
Chromosomal Location91880400-92131656 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 92022917 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099326] [ENSMUST00000216219]
Predicted Effect probably benign
Transcript: ENSMUST00000099326
SMART Domains Protein: ENSMUSP00000096930
Gene: ENSMUSG00000021708

DomainStartEndE-ValueType
PH 23 135 1.29e-16 SMART
IQ 204 226 1.3e0 SMART
RhoGEF 247 428 2.2e-51 SMART
RasGEFN 633 775 9.35e-15 SMART
RasGEFN 786 923 6.04e-9 SMART
RasGEF 949 1186 2.97e-112 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000216219
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RAS GTPases cycle between an inactive GDP-bound state and an active GTP-bound state. This gene encodes a calcium-regulated nucleotide exchange factor activating both RAS and RAS-related protein, RAC1, through the exchange of bound GDP for GTP, thereby, coordinating the signaling of distinct mitogen-activated protein kinase pathways. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit decreased Il2 and TNF-alpha production in stimulated T cells. Mice homozygous for mutations in both Rasgrf1 and Rasgrf2 exhibit no additional abnormalities than those observed in the Rasgrf1 mutant mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 79,099,249 D1256G probably damaging Het
Acot7 A T 4: 152,260,896 M308L probably benign Het
Adarb2 A G 13: 8,203,293 R25G possibly damaging Het
Ano1 C A 7: 144,595,498 Q875H probably damaging Het
Ano6 G A 15: 95,913,661 probably null Het
Ehbp1 G A 11: 22,138,022 P354L probably damaging Het
Eml5 T C 12: 98,802,313 H1454R probably damaging Het
Esyt1 T A 10: 128,519,791 N421Y possibly damaging Het
Gen1 T C 12: 11,256,870 T100A probably damaging Het
Gm11639 A T 11: 104,720,697 D455V probably benign Het
Gm15292 C T 8: 21,250,418 T80I probably damaging Het
Jak3 A T 8: 71,685,166 D780V probably damaging Het
Klrb1a A G 6: 128,618,045 probably benign Het
Lrp8 A G 4: 107,864,076 I826M probably benign Het
Mcmbp G A 7: 128,714,485 Q214* probably null Het
Mtmr7 A T 8: 40,597,345 Y136N probably damaging Het
Ndor1 A G 2: 25,250,139 Y88H probably benign Het
Nkx2-4 A G 2: 147,084,340 Y201H possibly damaging Het
Olfr411 A G 11: 74,346,660 L308P probably damaging Het
Olfr503 T A 7: 108,544,726 L65* probably null Het
Olfr774 A T 10: 129,238,607 T153S probably benign Het
Pigg T C 5: 108,336,477 L663P probably damaging Het
Pik3cd A G 4: 149,657,460 V343A probably damaging Het
Plekha4 A G 7: 45,538,235 S244G probably damaging Het
Prkce T A 17: 86,625,462 D623E probably damaging Het
Rexo5 T C 7: 119,834,276 W419R probably damaging Het
Rnaseh2b A G 14: 62,365,257 probably null Het
Rras A G 7: 45,021,285 Y193C possibly damaging Het
Sall4 T C 2: 168,750,244 I997V probably damaging Het
Sec31b A G 19: 44,523,683 F591L probably benign Het
Skiv2l A G 17: 34,840,634 L232P probably benign Het
Slc13a3 A T 2: 165,406,780 I526N probably damaging Het
Slc6a11 C T 6: 114,134,665 T103M probably damaging Het
Snrnp25 A G 11: 32,208,745 probably benign Het
Tex264 T C 9: 106,662,408 K201E possibly damaging Het
Tgfb1 G T 7: 25,688,017 R50L probably damaging Het
Tle4 A G 19: 14,468,261 V207A probably benign Het
Tmed1 A T 9: 21,510,042 C45* probably null Het
Tmem260 A G 14: 48,511,958 N638S probably damaging Het
Traf3ip3 T C 1: 193,184,891 E274G probably damaging Het
Trak1 T C 9: 121,443,736 probably null Het
Trim3 A T 7: 105,617,469 V502E probably damaging Het
Trmo C T 4: 46,377,053 probably benign Het
Xab2 C T 8: 3,616,332 R192Q probably benign Het
Other mutations in Rasgrf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01358:Rasgrf2 APN 13 91982630 missense probably benign 0.23
IGL01666:Rasgrf2 APN 13 92038210 missense probably damaging 1.00
IGL01930:Rasgrf2 APN 13 91982738 missense probably damaging 0.98
IGL02230:Rasgrf2 APN 13 91988026 missense probably damaging 1.00
IGL02630:Rasgrf2 APN 13 92131392 missense probably damaging 1.00
IGL02690:Rasgrf2 APN 13 92030765 missense probably damaging 1.00
IGL02943:Rasgrf2 APN 13 91983633 missense probably damaging 1.00
IGL03067:Rasgrf2 APN 13 92022905 missense probably damaging 0.97
IGL03342:Rasgrf2 APN 13 91987979 missense probably damaging 1.00
IGL03405:Rasgrf2 APN 13 91896051 missense probably damaging 1.00
R0620:Rasgrf2 UTSW 13 91919817 splice site probably benign
R0632:Rasgrf2 UTSW 13 91972274 missense probably benign 0.00
R0894:Rasgrf2 UTSW 13 91982771 missense probably damaging 1.00
R1354:Rasgrf2 UTSW 13 92028666 missense probably damaging 1.00
R1400:Rasgrf2 UTSW 13 91887689 missense probably damaging 1.00
R1437:Rasgrf2 UTSW 13 92030888 missense probably damaging 1.00
R1443:Rasgrf2 UTSW 13 91983676 missense probably damaging 1.00
R1522:Rasgrf2 UTSW 13 91896086 missense probably benign 0.00
R1553:Rasgrf2 UTSW 13 91890664 missense probably damaging 1.00
R1613:Rasgrf2 UTSW 13 91902621 missense probably damaging 1.00
R1883:Rasgrf2 UTSW 13 91969030 missense probably benign
R1934:Rasgrf2 UTSW 13 91983706 splice site probably null
R1990:Rasgrf2 UTSW 13 92035965 missense probably damaging 1.00
R2037:Rasgrf2 UTSW 13 91902629 missense probably damaging 0.99
R2043:Rasgrf2 UTSW 13 92030843 missense possibly damaging 0.91
R2135:Rasgrf2 UTSW 13 91972255 missense probably benign
R2193:Rasgrf2 UTSW 13 92023713 splice site probably null
R2406:Rasgrf2 UTSW 13 91972240 missense probably benign
R3055:Rasgrf2 UTSW 13 92029075 missense probably damaging 1.00
R3916:Rasgrf2 UTSW 13 92030788 missense probably damaging 1.00
R3954:Rasgrf2 UTSW 13 91982855 missense probably damaging 0.98
R3955:Rasgrf2 UTSW 13 91982855 missense probably damaging 0.98
R3956:Rasgrf2 UTSW 13 91982855 missense probably damaging 0.98
R4133:Rasgrf2 UTSW 13 91982654 missense possibly damaging 0.59
R4177:Rasgrf2 UTSW 13 91890598 missense probably damaging 1.00
R4178:Rasgrf2 UTSW 13 91890598 missense probably damaging 1.00
R4357:Rasgrf2 UTSW 13 91890677 missense probably damaging 1.00
R4358:Rasgrf2 UTSW 13 91890677 missense probably damaging 1.00
R4359:Rasgrf2 UTSW 13 91890677 missense probably damaging 1.00
R4439:Rasgrf2 UTSW 13 91983678 missense possibly damaging 0.95
R4440:Rasgrf2 UTSW 13 91983678 missense possibly damaging 0.95
R4441:Rasgrf2 UTSW 13 91983678 missense possibly damaging 0.95
R4564:Rasgrf2 UTSW 13 91885654 nonsense probably null
R4576:Rasgrf2 UTSW 13 91896410 missense possibly damaging 0.58
R4590:Rasgrf2 UTSW 13 92038281 missense probably damaging 1.00
R4718:Rasgrf2 UTSW 13 91990830 critical splice donor site probably null
R4778:Rasgrf2 UTSW 13 91983661 missense probably damaging 0.99
R4790:Rasgrf2 UTSW 13 91988016 missense probably damaging 1.00
R4808:Rasgrf2 UTSW 13 92023682 missense probably damaging 1.00
R5151:Rasgrf2 UTSW 13 91896036 missense probably damaging 1.00
R5286:Rasgrf2 UTSW 13 92131433 missense possibly damaging 0.94
R5902:Rasgrf2 UTSW 13 91919892 missense probably damaging 1.00
R6180:Rasgrf2 UTSW 13 92029101 missense probably damaging 1.00
R6264:Rasgrf2 UTSW 13 92030785 missense probably damaging 1.00
R6369:Rasgrf2 UTSW 13 92131446 missense probably benign
R6428:Rasgrf2 UTSW 13 91987981 missense probably damaging 1.00
R6595:Rasgrf2 UTSW 13 92030853 missense probably damaging 1.00
R6619:Rasgrf2 UTSW 13 92028519 missense probably damaging 1.00
R6988:Rasgrf2 UTSW 13 91885635 missense probably benign 0.02
R7026:Rasgrf2 UTSW 13 91983613 missense probably damaging 1.00
R7038:Rasgrf2 UTSW 13 91982833 missense possibly damaging 0.95
R7045:Rasgrf2 UTSW 13 92022592 intron probably benign
R7056:Rasgrf2 UTSW 13 92030695 missense probably damaging 0.99
R7058:Rasgrf2 UTSW 13 91886402 missense probably damaging 0.99
R7256:Rasgrf2 UTSW 13 91884518 nonsense probably null
R7392:Rasgrf2 UTSW 13 91893737 missense
R7469:Rasgrf2 UTSW 13 92029022 critical splice donor site probably null
X0013:Rasgrf2 UTSW 13 92030855 missense probably damaging 1.00
X0026:Rasgrf2 UTSW 13 91902535 missense probably damaging 0.99
Posted On2013-10-07