Incidental Mutation 'IGL02943:Rasgrf2'
ID 364612
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rasgrf2
Ensembl Gene ENSMUSG00000021708
Gene Name RAS protein-specific guanine nucleotide-releasing factor 2
Synonyms Grf2, 6330417G04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # IGL02943
Quality Score
Status
Chromosome 13
Chromosomal Location 92028519-92268164 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92131752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 635 (V635A)
Ref Sequence ENSEMBL: ENSMUSP00000096930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099326]
AlphaFold P70392
Predicted Effect probably damaging
Transcript: ENSMUST00000099326
AA Change: V635A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000096930
Gene: ENSMUSG00000021708
AA Change: V635A

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: V34A
SMART Domains Protein: ENSMUSP00000115401
Gene: ENSMUSG00000021708
AA Change: V34A

DomainStartEndE-ValueType
RasGEFN 33 175 9.35e-15 SMART
Blast:RasGEFN 187 249 8e-29 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000151408
AA Change: V34A
SMART Domains Protein: ENSMUSP00000116892
Gene: ENSMUSG00000021708
AA Change: V34A

DomainStartEndE-ValueType
RasGEFN 33 175 9.35e-15 SMART
RasGEFN 186 323 6.04e-9 SMART
RasGEF 349 586 2.97e-112 SMART
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akp3 T A 1: 87,054,091 (GRCm39) Y236* probably null Het
Ankrd13c C T 3: 157,653,564 (GRCm39) T134M probably damaging Het
Arhgef18 T C 8: 3,498,553 (GRCm39) S529P probably damaging Het
Cdkl2 T A 5: 92,185,103 (GRCm39) N96I possibly damaging Het
Cep57 A T 9: 13,730,149 (GRCm39) probably benign Het
Chchd7 T C 4: 3,942,796 (GRCm39) Y44H probably damaging Het
Ciart T C 3: 95,786,314 (GRCm39) I254V possibly damaging Het
Cyp2a12 T C 7: 26,731,967 (GRCm39) I236T probably benign Het
Dlgap5 A G 14: 47,650,433 (GRCm39) probably null Het
Ednra T A 8: 78,446,683 (GRCm39) I132F probably damaging Het
En2 T C 5: 28,371,524 (GRCm39) probably benign Het
Fcgbpl1 A G 7: 27,846,613 (GRCm39) R1102G probably damaging Het
Fsip2 C A 2: 82,822,701 (GRCm39) Q6145K probably benign Het
Galnt5 A T 2: 57,889,780 (GRCm39) D460V probably damaging Het
Gm6401 C T 14: 41,788,851 (GRCm39) E73K possibly damaging Het
Gpr84 T C 15: 103,217,316 (GRCm39) I254V probably benign Het
Hacd3 A T 9: 64,897,718 (GRCm39) I298N probably damaging Het
Hyal6 T A 6: 24,743,438 (GRCm39) V378E probably damaging Het
Il20rb G T 9: 100,348,305 (GRCm39) H210N probably benign Het
Iqgap2 A G 13: 95,798,243 (GRCm39) probably benign Het
Itga1 C T 13: 115,185,832 (GRCm39) E57K possibly damaging Het
Jmjd1c T A 10: 67,055,433 (GRCm39) D571E probably damaging Het
Kmt2c T C 5: 25,495,821 (GRCm39) S623G probably damaging Het
L3mbtl2 T A 15: 81,570,456 (GRCm39) S645T possibly damaging Het
Lrp2 A G 2: 69,285,854 (GRCm39) V3779A possibly damaging Het
Lrpprc T C 17: 85,078,878 (GRCm39) R279G probably benign Het
Lurap1l A G 4: 80,871,872 (GRCm39) K122E probably damaging Het
Met T C 6: 17,535,928 (GRCm39) Y785H possibly damaging Het
Myh3 T C 11: 66,981,891 (GRCm39) F796L probably benign Het
Myo16 T C 8: 10,450,595 (GRCm39) probably benign Het
Nedd4l T C 18: 65,294,723 (GRCm39) probably null Het
Nlrp4c T C 7: 6,068,974 (GRCm39) C292R probably damaging Het
Nmnat1 A G 4: 149,557,745 (GRCm39) L99P probably damaging Het
Or1j12 A T 2: 36,343,051 (GRCm39) L151F probably benign Het
Or5p64 A G 7: 107,854,623 (GRCm39) F241L possibly damaging Het
Pclo T C 5: 14,719,235 (GRCm39) V1124A unknown Het
Phf20l1 A G 15: 66,466,733 (GRCm39) Y54C probably damaging Het
Postn T C 3: 54,285,029 (GRCm39) probably null Het
Ppp2r1b A G 9: 50,794,885 (GRCm39) D570G probably damaging Het
Prdm2 A C 4: 142,858,542 (GRCm39) S1583A probably benign Het
Proser1 T C 3: 53,386,524 (GRCm39) V802A probably damaging Het
Ptprc A T 1: 138,027,251 (GRCm39) N532K probably damaging Het
Ptprk A G 10: 28,351,172 (GRCm39) H555R possibly damaging Het
Ranbp6 T C 19: 29,789,524 (GRCm39) D276G possibly damaging Het
Rbm5 T C 9: 107,621,542 (GRCm39) Y620C probably damaging Het
Sall1 C T 8: 89,757,749 (GRCm39) R785H probably damaging Het
Slc22a2 G T 17: 12,828,948 (GRCm39) L351F probably damaging Het
Sorcs3 A T 19: 48,748,377 (GRCm39) Q782L probably benign Het
Sphkap A T 1: 83,254,552 (GRCm39) S779T probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tas2r107 T A 6: 131,636,369 (GRCm39) M227L probably damaging Het
Tecpr2 C T 12: 110,934,183 (GRCm39) T1281I probably benign Het
Topbp1 T A 9: 103,205,639 (GRCm39) V759E probably benign Het
Trim2 T C 3: 84,085,483 (GRCm39) T504A probably benign Het
Trpc1 A G 9: 95,590,906 (GRCm39) probably benign Het
Tssk4 T A 14: 55,889,023 (GRCm39) V183E probably damaging Het
Vmn1r202 T C 13: 22,686,364 (GRCm39) T18A probably benign Het
Vmn1r225 T C 17: 20,722,567 (GRCm39) S3P possibly damaging Het
Vmn2r101 T A 17: 19,831,666 (GRCm39) V554E probably damaging Het
Vps13a T C 19: 16,641,250 (GRCm39) I2291V probably damaging Het
Vps39 A G 2: 120,169,968 (GRCm39) S195P possibly damaging Het
Zfand4 T A 6: 116,250,837 (GRCm39) probably benign 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
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
R0894:Rasgrf2 UTSW 13 92,130,890 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-12-18