Incidental Mutation 'R4718:Rasgrf2'
ID 397216
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 041985-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R4718 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 92028519-92268164 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 92138716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000096930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099326]
AlphaFold P70392
Predicted Effect probably null
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: ENSMUST00000142378
SMART Domains Protein: ENSMUSP00000115401
Gene: ENSMUSG00000021708

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

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik G A 5: 115,001,615 (GRCm39) probably null Het
Acsm2 A T 7: 119,172,826 (GRCm39) Y147F probably damaging Het
Alg12 A T 15: 88,690,256 (GRCm39) Y413N probably damaging Het
Arrdc3 A T 13: 81,031,986 (GRCm39) Q73L possibly damaging Het
Atp13a5 T C 16: 29,066,922 (GRCm39) K1017E probably damaging Het
Bmal1 A T 7: 112,902,568 (GRCm39) I399F probably damaging Het
Bms1 T C 6: 118,380,196 (GRCm39) N704D possibly damaging Het
Bsph1 T A 7: 13,206,107 (GRCm39) Y47* probably null Het
Crat A T 2: 30,298,176 (GRCm39) Y174* probably null Het
Csmd3 G T 15: 47,561,546 (GRCm39) Y2254* probably null Het
Cyld T A 8: 89,468,933 (GRCm39) I568N probably damaging Het
Dapl1 T C 2: 59,315,072 (GRCm39) V7A probably benign Het
Dhx29 G A 13: 113,083,469 (GRCm39) R508H unknown Het
Dnah9 A G 11: 65,976,299 (GRCm39) I1250T probably benign Het
Dnajb3 C T 1: 88,133,061 (GRCm39) D114N probably benign Het
Dsg1b A G 18: 20,530,986 (GRCm39) N446D probably damaging Het
Dthd1 T A 5: 62,976,136 (GRCm39) V270E probably damaging Het
F2rl3 A C 8: 73,489,536 (GRCm39) R254S possibly damaging Het
Fgfr2 A G 7: 129,863,518 (GRCm39) S24P probably damaging Het
Fpr2 T C 17: 18,113,598 (GRCm39) V198A probably benign Het
Gbp2b G A 3: 142,304,756 (GRCm39) G64D probably damaging Het
Gbp9 T G 5: 105,231,624 (GRCm39) N321H probably damaging Het
Gk2 T A 5: 97,603,725 (GRCm39) Y371F probably benign Het
Gm10382 T C 5: 125,466,462 (GRCm39) probably benign Het
Gpatch3 A G 4: 133,309,855 (GRCm39) D396G probably benign Het
Heatr5a A C 12: 51,962,946 (GRCm39) L985V possibly damaging Het
Homer1 T A 13: 93,528,272 (GRCm39) V269E probably damaging Het
Hspbap1 T C 16: 35,607,692 (GRCm39) V66A probably benign Het
Ighv7-2 A C 12: 113,876,089 (GRCm39) I5M possibly damaging Het
Ints7 T A 1: 191,315,389 (GRCm39) F108Y possibly damaging Het
Itga7 CT CTGGGGATT 10: 128,776,603 (GRCm39) probably null Het
Junb G A 8: 85,705,061 (GRCm39) probably benign Het
Lcp2 A G 11: 34,020,992 (GRCm39) N116S probably benign Het
Lrguk A G 6: 34,006,431 (GRCm39) T14A probably benign Het
Lrrcc1 T A 3: 14,601,092 (GRCm39) H41Q probably damaging Het
Ltb C A 17: 35,414,313 (GRCm39) probably null Het
Mapk7 A G 11: 61,380,080 (GRCm39) S693P possibly damaging Het
Mbd5 A T 2: 49,146,414 (GRCm39) H208L possibly damaging Het
Megf9 A T 4: 70,367,015 (GRCm39) S322R possibly damaging Het
Mgat4c T C 10: 102,224,467 (GRCm39) V227A probably damaging Het
Mospd3 G A 5: 137,597,915 (GRCm39) T151M probably benign Het
Mpl A G 4: 118,313,921 (GRCm39) S115P probably benign Het
Myo6 C A 9: 80,153,799 (GRCm39) D258E probably benign Het
N4bp2 G A 5: 65,960,806 (GRCm39) M492I probably damaging Het
Ndst3 G A 3: 123,465,915 (GRCm39) A19V probably benign Het
Nkx2-3 C A 19: 43,601,082 (GRCm39) T48K probably benign Het
Nlrp4f T C 13: 65,342,803 (GRCm39) T281A probably benign Het
Nmur1 A G 1: 86,315,463 (GRCm39) V157A probably damaging Het
Obscn A T 11: 58,912,780 (GRCm39) F6992L probably damaging Het
Ocm G T 5: 143,961,375 (GRCm39) P22Q possibly damaging Het
Or5be3 T C 2: 86,864,239 (GRCm39) T109A probably damaging Het
Osbp2 C A 11: 3,661,793 (GRCm39) C753F probably damaging Het
Pabpc2 A G 18: 39,907,556 (GRCm39) T274A probably benign Het
Pamr1 T A 2: 102,472,681 (GRCm39) I660N probably damaging Het
Papola C T 12: 105,786,707 (GRCm39) T466I possibly damaging Het
Pask T C 1: 93,249,918 (GRCm39) E494G possibly damaging Het
Pck1 A T 2: 172,997,014 (GRCm39) I219F probably damaging Het
Pgm3 T C 9: 86,452,448 (GRCm39) E4G probably benign Het
Pgs1 A G 11: 117,896,709 (GRCm39) H462R probably damaging Het
Phlpp2 T A 8: 110,667,452 (GRCm39) M1327K probably benign Het
Pkhd1 C A 1: 20,151,452 (GRCm39) G3815W probably damaging Het
Plin4 T A 17: 56,413,981 (GRCm39) I215F possibly damaging Het
Plod1 T G 4: 148,000,701 (GRCm39) probably benign Het
Ppfia2 T C 10: 106,694,146 (GRCm39) S707P probably damaging Het
Psmd12 A G 11: 107,377,259 (GRCm39) Q86R probably benign Het
Rictor T C 15: 6,812,641 (GRCm39) S926P possibly damaging Het
Rras2 A T 7: 113,649,584 (GRCm39) I160N probably benign Het
Slc27a6 A T 18: 58,738,138 (GRCm39) Y398F probably benign Het
Speer4f1 A G 5: 17,685,422 (GRCm39) E239G unknown Het
Sppl2c T C 11: 104,079,141 (GRCm39) I647T probably benign Het
Sptan1 A G 2: 29,921,074 (GRCm39) Y2467C probably damaging Het
Sptbn1 G T 11: 30,104,297 (GRCm39) H136N probably damaging Het
Stau2 T C 1: 16,416,269 (GRCm39) probably null Het
Tasor2 A T 13: 3,624,495 (GRCm39) D1818E probably benign Het
Tet1 T A 10: 62,649,591 (GRCm39) I40F probably damaging Het
Tnfaip2 A G 12: 111,412,463 (GRCm39) E288G possibly damaging Het
Trav7-5 T A 14: 53,768,610 (GRCm39) H59Q probably benign Het
Usp53 T C 3: 122,727,631 (GRCm39) I984V probably benign Het
Wdfy4 A G 14: 32,867,273 (GRCm39) I403T probably benign Het
Yars2 T A 16: 16,127,204 (GRCm39) M423K probably benign Het
Zfp292 A T 4: 34,819,521 (GRCm39) V272D possibly damaging Het
Zmynd11 A T 13: 9,739,603 (GRCm39) V478D 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
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
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'- CCATTGCTTACAACACAGGC -3'
(R):5'- CTTGCACAATCATCATGAGAGC -3'

Sequencing Primer
(F):5'- CTGCAGAGAGAACTGTCCTGTTC -3'
(R):5'- GCACAATCATCATGAGAGCTGTTG -3'
Posted On 2016-06-28