Incidental Mutation 'R4590:Rasgrf2'
ID 342776
Institutional Source Beutler Lab
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 # R4590 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 92028519-92268164 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92174789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 147 (Y147H)
Ref Sequence ENSEMBL: ENSMUSP00000116203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099326] [ENSMUST00000146492] [ENSMUST00000216219]
AlphaFold P70392
Predicted Effect probably damaging
Transcript: ENSMUST00000099326
AA Change: Y147H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096930
Gene: ENSMUSG00000021708
AA Change: Y147H

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 damaging
Transcript: ENSMUST00000146492
AA Change: Y147H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116203
Gene: ENSMUSG00000021708
AA Change: Y147H

DomainStartEndE-ValueType
PH 23 135 1.29e-16 SMART
IQ 204 226 1.3e0 SMART
Pfam:RhoGEF 247 387 1.2e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216219
AA Change: Y147H

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankhd1 T A 18: 36,716,697 (GRCm39) D201E probably damaging Het
Ano10 T A 9: 122,086,231 (GRCm39) Q398L probably benign Het
Ap3d1 A T 10: 80,555,646 (GRCm39) L319* probably null Het
Cacna1e T C 1: 154,312,265 (GRCm39) M1575V possibly damaging Het
Cep192 T A 18: 67,949,862 (GRCm39) Y315* probably null Het
Cndp2 C A 18: 84,687,933 (GRCm39) V353F probably damaging Het
Ctsq T A 13: 61,184,028 (GRCm39) N298I probably benign Het
Dnah6 A T 6: 73,129,695 (GRCm39) C1173S probably damaging Het
Dnah9 T C 11: 65,931,218 (GRCm39) M1993V probably damaging Het
Dnhd1 T C 7: 105,363,237 (GRCm39) V3933A probably damaging Het
Dnpep C A 1: 75,293,045 (GRCm39) V76L probably damaging Het
Dsc3 A C 18: 20,122,752 (GRCm39) C57W probably damaging Het
Dtx3 A G 10: 127,028,564 (GRCm39) S222P probably damaging Het
Eml5 T C 12: 98,803,600 (GRCm39) Y1009C possibly damaging Het
Fam169a A G 13: 97,234,093 (GRCm39) I122V probably benign Het
Fgr T A 4: 132,722,364 (GRCm39) V211E probably damaging Het
Flvcr1 T C 1: 190,744,343 (GRCm39) T402A probably benign Het
Frmd5 C T 2: 121,595,512 (GRCm39) probably null Het
Fut2 T C 7: 45,300,370 (GRCm39) N134S possibly damaging Het
Gm10110 A T 14: 90,134,982 (GRCm39) noncoding transcript Het
Gm7275 A T 16: 47,893,982 (GRCm39) noncoding transcript Het
Gm904 T A 13: 50,799,285 (GRCm39) C81* probably null Het
Herc1 T A 9: 66,344,946 (GRCm39) V1913E probably damaging Het
Hnmt T C 2: 23,909,111 (GRCm39) probably null Het
Ift172 T C 5: 31,411,299 (GRCm39) E1643G probably damaging Het
Inpp4b T A 8: 82,468,040 (GRCm39) M1K probably null Het
Keap1 G T 9: 21,148,905 (GRCm39) A34D probably damaging Het
Krt25 T C 11: 99,208,854 (GRCm39) probably benign Het
Lama2 A G 10: 26,865,410 (GRCm39) V2916A probably benign Het
Ly9 G A 1: 171,421,443 (GRCm39) Q603* probably null Het
Mis18bp1 A C 12: 65,205,280 (GRCm39) N14K possibly damaging Het
Mmrn1 G T 6: 60,937,797 (GRCm39) C265F probably damaging Het
Mrgprb5 C T 7: 47,817,809 (GRCm39) E309K probably benign Het
Nrtn T C 17: 57,058,504 (GRCm39) T166A probably damaging Het
Odr4 A G 1: 150,262,103 (GRCm39) probably null Het
Or8g50 T C 9: 39,648,146 (GRCm39) F12L probably damaging Het
Osbpl7 T A 11: 96,947,098 (GRCm39) S266R probably damaging Het
Pcdhb11 T C 18: 37,555,549 (GRCm39) I293T probably damaging Het
Pes1 A G 11: 3,927,986 (GRCm39) Y546C probably damaging Het
Pth1r A T 9: 110,551,339 (GRCm39) W587R probably benign Het
Rbbp8 T A 18: 11,865,322 (GRCm39) L737* probably null Het
Rcor3 A T 1: 191,810,217 (GRCm39) F153L probably damaging Het
Rev3l G A 10: 39,682,929 (GRCm39) C349Y probably damaging Het
Rnf115 C T 3: 96,695,889 (GRCm39) T225M probably benign Het
Rnf157 A G 11: 116,250,098 (GRCm39) V200A probably damaging Het
Scfd2 T C 5: 74,372,917 (GRCm39) T653A probably benign Het
Sdccag8 T C 1: 176,775,858 (GRCm39) Y590H probably damaging Het
Sema4d T A 13: 51,877,654 (GRCm39) K59N probably benign Het
Serpinb7 C A 1: 107,379,563 (GRCm39) H323Q probably damaging Het
Setx T A 2: 29,034,821 (GRCm39) H435Q probably damaging Het
Sgk3 T C 1: 9,969,020 (GRCm39) S466P possibly damaging Het
Sgsm2 T C 11: 74,741,958 (GRCm39) M1011V probably damaging Het
Ssc4d G A 5: 135,993,538 (GRCm39) P106L probably benign Het
Taf7 T C 18: 37,775,784 (GRCm39) Q261R possibly damaging Het
Tbc1d2b T C 9: 90,152,553 (GRCm39) K71R possibly damaging Het
Tff3 C T 17: 31,348,508 (GRCm39) V15I probably benign Het
Tgfb3 C A 12: 86,124,589 (GRCm39) V40L possibly damaging Het
Timm10 T A 2: 84,657,992 (GRCm39) D2E possibly damaging Het
Ttc16 T A 2: 32,663,753 (GRCm39) N74I probably damaging Het
Ttll1 G A 15: 83,381,546 (GRCm39) T241I probably damaging Het
Uba6 T A 5: 86,260,603 (GRCm39) D992V probably damaging Het
Vmn1r25 T A 6: 57,955,480 (GRCm39) T270S probably benign Het
Vmn2r106 T C 17: 20,497,728 (GRCm39) I504V probably damaging Het
Vmn2r87 G T 10: 130,315,014 (GRCm39) H191N possibly damaging Het
Vnn1 C A 10: 23,775,303 (GRCm39) F184L possibly damaging Het
Vtn A T 11: 78,393,032 (GRCm39) I466F probably damaging Het
Zfp352 A C 4: 90,112,772 (GRCm39) D304A probably 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
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
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'- ATTTGTCCCTGGCAAAAGAACTC -3'
(R):5'- GAGATGCCAGCTGTTTGATG -3'

Sequencing Primer
(F):5'- TCAGCGTGAGACTAAGTCTTTC -3'
(R):5'- GTAGGTTAGTGTGCCAGGTAGAACC -3'
Posted On 2015-09-24