Incidental Mutation 'R0894:Rasgrf2'
ID 83701
Institutional Source Beutler Lab
Gene Symbol Rasgrf2
Ensembl Gene ENSMUSG00000021708
Gene Name RAS protein-specific guanine nucleotide-releasing factor 2
Synonyms Grf2, 6330417G04Rik
MMRRC Submission 039057-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R0894 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 92028519-92268164 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92130890 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 724 (S724P)
Ref Sequence ENSEMBL: ENSMUSP00000096930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099326]
AlphaFold P70392
Predicted Effect probably damaging
Transcript: ENSMUST00000099326
AA Change: S724P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096930
Gene: ENSMUSG00000021708
AA Change: S724P

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 unknown
Transcript: ENSMUST00000142378
AA Change: S123P
SMART Domains Protein: ENSMUSP00000115401
Gene: ENSMUSG00000021708
AA Change: S123P

DomainStartEndE-ValueType
RasGEFN 33 175 9.35e-15 SMART
Blast:RasGEFN 187 249 8e-29 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000151408
AA Change: S123P
SMART Domains Protein: ENSMUSP00000116892
Gene: ENSMUSG00000021708
AA Change: S123P

DomainStartEndE-ValueType
RasGEFN 33 175 9.35e-15 SMART
RasGEFN 186 323 6.04e-9 SMART
RasGEF 349 586 2.97e-112 SMART
Meta Mutation Damage Score 0.0973 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.8%
Validation Efficiency 97% (102/105)
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,471,726 (GRCm39) S1044G probably benign Het
Aanat A G 11: 116,487,730 (GRCm39) H143R probably benign Het
Abca8a A G 11: 109,941,792 (GRCm39) I1159T probably benign Het
Abcb1a G T 5: 8,724,856 (GRCm39) probably benign Het
Abcc1 T C 16: 14,283,001 (GRCm39) V1159A possibly damaging Het
Akr1e1 T A 13: 4,645,071 (GRCm39) Q204L probably damaging Het
Alk T C 17: 72,202,930 (GRCm39) Y1135C probably damaging Het
Atad2b C T 12: 5,015,915 (GRCm39) T547I probably damaging Het
Brd10 T C 19: 29,697,974 (GRCm39) probably benign Het
C030005K15Rik A T 10: 97,561,648 (GRCm39) S28T unknown Het
Cdk5rap3 A G 11: 96,799,654 (GRCm39) L387P probably damaging Het
Cfap95 T C 19: 23,630,062 (GRCm39) E10G unknown Het
Cfap96 A G 8: 46,409,497 (GRCm39) F274S probably damaging Het
Clec4f T A 6: 83,629,979 (GRCm39) N193I probably damaging Het
Col4a4 A T 1: 82,507,377 (GRCm39) probably null Het
Cplx4 T G 18: 66,090,116 (GRCm39) D101A possibly damaging Het
Cpne8 A T 15: 90,533,474 (GRCm39) D50E probably damaging Het
Csmd3 G T 15: 47,721,316 (GRCm39) D1542E possibly damaging Het
Ctdp1 A G 18: 80,512,736 (GRCm39) V9A probably benign Het
Ctnnd2 A T 15: 30,332,301 (GRCm39) probably benign Het
Cyp7b1 C T 3: 18,151,674 (GRCm39) A180T probably benign Het
Dcun1d5 C T 9: 7,203,379 (GRCm39) probably benign Het
Dgat1 G T 15: 76,387,199 (GRCm39) L363I possibly damaging Het
Dipk2b T A X: 18,289,791 (GRCm39) I224F possibly damaging Het
Dlg1 T A 16: 31,561,965 (GRCm39) H120Q probably benign Het
Dnah6 T C 6: 73,101,740 (GRCm39) N1928S probably benign Het
Dnai4 T C 4: 102,906,583 (GRCm39) probably benign Het
Dync2h1 A T 9: 7,041,734 (GRCm39) probably benign Het
Ednra T G 8: 78,446,649 (GRCm39) probably benign Het
Efcab6 A T 15: 83,802,493 (GRCm39) C845S probably benign Het
Egln1 A T 8: 125,642,435 (GRCm39) C303S probably damaging Het
Eomes T C 9: 118,311,368 (GRCm39) probably null Het
Epha1 A G 6: 42,340,756 (GRCm39) V568A probably benign Het
Ercc6 T A 14: 32,238,985 (GRCm39) N24K probably benign Het
Esco2 T C 14: 66,064,726 (GRCm39) Q338R probably benign Het
Fbxo46 T C 7: 18,869,654 (GRCm39) V91A probably damaging Het
Fryl A T 5: 73,198,675 (GRCm39) probably benign Het
Gab3 A C X: 74,077,024 (GRCm39) D43E probably damaging Het
Gltpd2 T A 11: 70,410,535 (GRCm39) probably benign Het
Gm17333 G T 16: 77,649,711 (GRCm39) noncoding transcript Het
Gm7353 T C 7: 3,160,570 (GRCm39) noncoding transcript Het
Grik4 T C 9: 42,599,405 (GRCm39) probably benign Het
Gtpbp2 G T 17: 46,476,895 (GRCm39) A358S possibly damaging Het
Hyls1 C T 9: 35,472,528 (GRCm39) C296Y probably damaging Het
Igf2r C T 17: 12,910,988 (GRCm39) M1943I probably benign Het
Iqca1l T C 5: 24,755,731 (GRCm39) probably null Het
Ireb2 T A 9: 54,803,861 (GRCm39) N517K probably damaging Het
Itga10 A G 3: 96,560,976 (GRCm39) S614G possibly damaging Het
Kdm2b A G 5: 123,122,523 (GRCm39) probably null Het
Kif17 T C 4: 138,025,542 (GRCm39) M948T possibly damaging Het
Klhl33 A T 14: 51,129,583 (GRCm39) N347K probably damaging Het
Llph T A 10: 120,064,086 (GRCm39) C67* probably null Het
Lrrn3 T C 12: 41,504,033 (GRCm39) T95A probably damaging Het
Map3k12 C A 15: 102,410,613 (GRCm39) A455S probably damaging Het
Mex3d T C 10: 80,217,376 (GRCm39) T149A probably benign Het
Myo7b A G 18: 32,133,123 (GRCm39) W409R probably damaging Het
Nbea A G 3: 55,916,761 (GRCm39) M833T possibly damaging Het
Ncapg A G 5: 45,837,236 (GRCm39) T436A probably null Het
Nkx1-2 C A 7: 132,201,042 (GRCm39) D72Y probably null Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or2d3b T A 7: 106,514,317 (GRCm39) I304K probably benign Het
Or6c217 T A 10: 129,737,751 (GRCm39) N276I probably damaging Het
Pcdh15 A G 10: 74,460,087 (GRCm39) Y1308C probably damaging Het
Pcnx2 A G 8: 126,613,665 (GRCm39) probably benign Het
Pcsk1 G A 13: 75,246,096 (GRCm39) G158D probably damaging Het
Phkb A T 8: 86,744,070 (GRCm39) D573V probably damaging Het
Pik3r4 A G 9: 105,544,970 (GRCm39) K150E possibly damaging Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Ppp4r4 C T 12: 103,566,754 (GRCm39) A67V probably damaging Het
Prex2 A G 1: 11,252,122 (GRCm39) T1056A probably benign Het
Prkca A T 11: 107,903,518 (GRCm39) Y285N possibly damaging Het
Psd T C 19: 46,301,880 (GRCm39) E903G probably damaging Het
Psg19 T C 7: 18,527,987 (GRCm39) E252G probably benign Het
Psg20 T A 7: 18,414,969 (GRCm39) K306* probably null Het
Pygl T G 12: 70,241,148 (GRCm39) probably benign Het
Reck C A 4: 43,922,967 (GRCm39) A414D probably damaging Het
Scn10a C A 9: 119,459,213 (GRCm39) V1150L probably damaging Het
Shc2 A T 10: 79,465,751 (GRCm39) I187N probably damaging Het
Sipa1l3 T A 7: 29,086,716 (GRCm39) K625* probably null Het
Slc44a4 T C 17: 35,147,466 (GRCm39) L583P possibly damaging Het
Slc5a11 G C 7: 122,857,643 (GRCm39) R244P possibly damaging Het
Slfn8 T A 11: 82,894,407 (GRCm39) Q744L probably benign Het
Snx2 G T 18: 53,309,488 (GRCm39) V13L probably benign Het
Spmip5 A T 19: 58,776,015 (GRCm39) L138Q probably damaging Het
Spsb1 C T 4: 149,990,872 (GRCm39) probably null Het
Stfa2l1 A T 16: 35,977,228 (GRCm39) I8L probably benign Het
Svil G T 18: 5,097,494 (GRCm39) R1659L probably damaging Het
Tbccd1 A T 16: 22,640,995 (GRCm39) L461M probably benign Het
Tmem9 A T 1: 135,961,926 (GRCm39) T174S possibly damaging Het
Tnks2 T C 19: 36,867,450 (GRCm39) probably null Het
Tnrc18 C A 5: 142,800,869 (GRCm39) V30L probably benign Het
Tomm7 A G 5: 24,049,025 (GRCm39) F16S probably damaging Het
Ttf2 A G 3: 100,876,865 (GRCm39) probably benign Het
Ubr7 C A 12: 102,735,450 (GRCm39) T303N probably damaging Het
Ushbp1 A T 8: 71,842,868 (GRCm39) probably null Het
Vmn1r177 C A 7: 23,565,475 (GRCm39) V134F probably benign Het
Vmn2r12 A G 5: 109,235,716 (GRCm39) probably null Het
Vmn2r53 T G 7: 12,335,141 (GRCm39) H173P probably benign Het
Yars1 A T 4: 129,090,948 (GRCm39) M119L probably damaging Het
Zcrb1 A T 15: 93,295,038 (GRCm39) probably benign Het
Zfp267 T A 3: 36,218,935 (GRCm39) Y319* probably null Het
Zfp319 C A 8: 96,056,250 (GRCm39) probably benign Het
Zfp783 C G 6: 47,920,320 (GRCm39) noncoding transcript Het
Zfyve26 A G 12: 79,320,372 (GRCm39) I1024T possibly damaging Het
Other mutations in Rasgrf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Rasgrf2 APN 13 92,159,425 (GRCm39) splice site probably benign
IGL01358:Rasgrf2 APN 13 92,130,749 (GRCm39) missense probably benign 0.23
IGL01666:Rasgrf2 APN 13 92,174,718 (GRCm39) missense probably damaging 1.00
IGL01930:Rasgrf2 APN 13 92,130,857 (GRCm39) missense probably damaging 0.98
IGL02230:Rasgrf2 APN 13 92,136,145 (GRCm39) missense probably damaging 1.00
IGL02630:Rasgrf2 APN 13 92,267,900 (GRCm39) missense probably damaging 1.00
IGL02690:Rasgrf2 APN 13 92,167,273 (GRCm39) missense probably damaging 1.00
IGL02943:Rasgrf2 APN 13 92,131,752 (GRCm39) missense probably damaging 1.00
IGL03067:Rasgrf2 APN 13 92,159,413 (GRCm39) missense probably damaging 0.97
IGL03342:Rasgrf2 APN 13 92,136,098 (GRCm39) missense probably damaging 1.00
IGL03405:Rasgrf2 APN 13 92,044,170 (GRCm39) missense probably damaging 1.00
R0620:Rasgrf2 UTSW 13 92,067,936 (GRCm39) splice site probably benign
R0632:Rasgrf2 UTSW 13 92,120,393 (GRCm39) missense probably benign 0.00
R1354:Rasgrf2 UTSW 13 92,165,174 (GRCm39) missense probably damaging 1.00
R1400:Rasgrf2 UTSW 13 92,035,808 (GRCm39) missense probably damaging 1.00
R1437:Rasgrf2 UTSW 13 92,167,396 (GRCm39) missense probably damaging 1.00
R1443:Rasgrf2 UTSW 13 92,131,795 (GRCm39) missense probably damaging 1.00
R1522:Rasgrf2 UTSW 13 92,044,205 (GRCm39) missense probably benign 0.00
R1553:Rasgrf2 UTSW 13 92,038,783 (GRCm39) missense probably damaging 1.00
R1613:Rasgrf2 UTSW 13 92,050,740 (GRCm39) missense probably damaging 1.00
R1883:Rasgrf2 UTSW 13 92,117,149 (GRCm39) missense probably benign
R1934:Rasgrf2 UTSW 13 92,131,825 (GRCm39) splice site probably null
R1990:Rasgrf2 UTSW 13 92,172,473 (GRCm39) missense probably damaging 1.00
R2037:Rasgrf2 UTSW 13 92,050,748 (GRCm39) missense probably damaging 0.99
R2043:Rasgrf2 UTSW 13 92,167,351 (GRCm39) missense possibly damaging 0.91
R2135:Rasgrf2 UTSW 13 92,120,374 (GRCm39) missense probably benign
R2193:Rasgrf2 UTSW 13 92,160,221 (GRCm39) splice site probably null
R2406:Rasgrf2 UTSW 13 92,120,359 (GRCm39) missense probably benign
R3055:Rasgrf2 UTSW 13 92,165,583 (GRCm39) missense probably damaging 1.00
R3916:Rasgrf2 UTSW 13 92,167,296 (GRCm39) missense probably damaging 1.00
R3954:Rasgrf2 UTSW 13 92,130,974 (GRCm39) missense probably damaging 0.98
R3955:Rasgrf2 UTSW 13 92,130,974 (GRCm39) missense probably damaging 0.98
R3956:Rasgrf2 UTSW 13 92,130,974 (GRCm39) missense probably damaging 0.98
R4133:Rasgrf2 UTSW 13 92,130,773 (GRCm39) missense possibly damaging 0.59
R4177:Rasgrf2 UTSW 13 92,038,717 (GRCm39) missense probably damaging 1.00
R4178:Rasgrf2 UTSW 13 92,038,717 (GRCm39) missense probably damaging 1.00
R4357:Rasgrf2 UTSW 13 92,038,796 (GRCm39) missense probably damaging 1.00
R4358:Rasgrf2 UTSW 13 92,038,796 (GRCm39) missense probably damaging 1.00
R4359:Rasgrf2 UTSW 13 92,038,796 (GRCm39) missense probably damaging 1.00
R4439:Rasgrf2 UTSW 13 92,131,797 (GRCm39) missense possibly damaging 0.95
R4440:Rasgrf2 UTSW 13 92,131,797 (GRCm39) missense possibly damaging 0.95
R4441:Rasgrf2 UTSW 13 92,131,797 (GRCm39) missense possibly damaging 0.95
R4564:Rasgrf2 UTSW 13 92,033,773 (GRCm39) nonsense probably null
R4576:Rasgrf2 UTSW 13 92,044,529 (GRCm39) missense possibly damaging 0.58
R4590:Rasgrf2 UTSW 13 92,174,789 (GRCm39) missense probably damaging 1.00
R4718:Rasgrf2 UTSW 13 92,138,716 (GRCm39) critical splice donor site probably null
R4778:Rasgrf2 UTSW 13 92,131,780 (GRCm39) missense probably damaging 0.99
R4790:Rasgrf2 UTSW 13 92,136,135 (GRCm39) missense probably damaging 1.00
R4808:Rasgrf2 UTSW 13 92,160,190 (GRCm39) missense probably damaging 1.00
R5151:Rasgrf2 UTSW 13 92,044,155 (GRCm39) missense probably damaging 1.00
R5286:Rasgrf2 UTSW 13 92,267,941 (GRCm39) missense possibly damaging 0.94
R5902:Rasgrf2 UTSW 13 92,068,011 (GRCm39) missense probably damaging 1.00
R6180:Rasgrf2 UTSW 13 92,165,609 (GRCm39) missense probably damaging 1.00
R6264:Rasgrf2 UTSW 13 92,167,293 (GRCm39) missense probably damaging 1.00
R6369:Rasgrf2 UTSW 13 92,267,954 (GRCm39) missense probably benign
R6428:Rasgrf2 UTSW 13 92,136,100 (GRCm39) missense probably damaging 1.00
R6595:Rasgrf2 UTSW 13 92,167,361 (GRCm39) missense probably damaging 1.00
R6619:Rasgrf2 UTSW 13 92,165,027 (GRCm39) missense probably damaging 1.00
R6988:Rasgrf2 UTSW 13 92,033,754 (GRCm39) missense probably benign 0.02
R7026:Rasgrf2 UTSW 13 92,131,732 (GRCm39) missense probably damaging 1.00
R7038:Rasgrf2 UTSW 13 92,130,952 (GRCm39) missense possibly damaging 0.95
R7045:Rasgrf2 UTSW 13 92,159,100 (GRCm39) intron probably benign
R7056:Rasgrf2 UTSW 13 92,167,203 (GRCm39) missense probably damaging 0.99
R7058:Rasgrf2 UTSW 13 92,034,521 (GRCm39) missense probably damaging 0.99
R7256:Rasgrf2 UTSW 13 92,032,637 (GRCm39) nonsense probably null
R7392:Rasgrf2 UTSW 13 92,041,856 (GRCm39) missense
R7469:Rasgrf2 UTSW 13 92,165,530 (GRCm39) critical splice donor site probably null
R7618:Rasgrf2 UTSW 13 92,136,085 (GRCm39) missense
R7641:Rasgrf2 UTSW 13 92,267,914 (GRCm39) missense possibly damaging 0.65
R7674:Rasgrf2 UTSW 13 92,267,914 (GRCm39) missense possibly damaging 0.65
R7784:Rasgrf2 UTSW 13 92,044,201 (GRCm39) missense
R7962:Rasgrf2 UTSW 13 92,167,300 (GRCm39) missense probably damaging 0.99
R8056:Rasgrf2 UTSW 13 92,167,321 (GRCm39) missense probably damaging 0.97
R8218:Rasgrf2 UTSW 13 92,130,796 (GRCm39) missense
R8796:Rasgrf2 UTSW 13 92,038,685 (GRCm39) missense
R8913:Rasgrf2 UTSW 13 92,159,034 (GRCm39) missense probably benign 0.05
R8971:Rasgrf2 UTSW 13 92,158,225 (GRCm39) missense possibly damaging 0.80
R9020:Rasgrf2 UTSW 13 92,165,146 (GRCm39) missense possibly damaging 0.93
R9487:Rasgrf2 UTSW 13 92,267,759 (GRCm39) missense probably benign
R9562:Rasgrf2 UTSW 13 92,034,469 (GRCm39) critical splice donor site probably null
R9712:Rasgrf2 UTSW 13 92,136,092 (GRCm39) missense
R9766:Rasgrf2 UTSW 13 92,160,188 (GRCm39) missense probably damaging 1.00
R9800:Rasgrf2 UTSW 13 92,267,860 (GRCm39) missense probably damaging 0.99
X0013:Rasgrf2 UTSW 13 92,167,363 (GRCm39) missense probably damaging 1.00
X0026:Rasgrf2 UTSW 13 92,050,654 (GRCm39) missense probably damaging 0.99
Z1177:Rasgrf2 UTSW 13 92,159,081 (GRCm39) missense unknown
Z1177:Rasgrf2 UTSW 13 92,131,632 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TGACTTTGCTCTGCAACAGAGAGAC -3'
(R):5'- TCCCTATCGAGGACAAGAGGAACAC -3'

Sequencing Primer
(F):5'- GCTAAGATCCAGTGGTACTTTACCAG -3'
(R):5'- AGCCAGGAGTAGCAGTCC -3'
Posted On 2013-11-08