Incidental Mutation 'R8056:Rasgrf2'
ID 619403
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 067493-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R8056 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 92028519-92268164 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92167321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 251 (M251V)
Ref Sequence ENSEMBL: ENSMUSP00000096930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099326] [ENSMUST00000146492] [ENSMUST00000216219]
AlphaFold P70392
Predicted Effect probably damaging
Transcript: ENSMUST00000099326
AA Change: M251V

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000096930
Gene: ENSMUSG00000021708
AA Change: M251V

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 possibly damaging
Transcript: ENSMUST00000146492
AA Change: M251V

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000116203
Gene: ENSMUSG00000021708
AA Change: M251V

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
SMART Domains Protein: ENSMUSP00000115562
Gene: ENSMUSG00000021708
AA Change: M31V

DomainStartEndE-ValueType
Pfam:RhoGEF 28 168 4.3e-26 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216219
AA Change: M251V

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (75/75)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 T C 11: 48,910,909 (GRCm39) E508G probably benign Het
Acsl3 C T 1: 78,659,611 (GRCm39) L88F probably damaging Het
Adamtsl1 C T 4: 86,260,269 (GRCm39) P835S possibly damaging Het
Agrn A G 4: 156,254,868 (GRCm39) V1616A probably benign Het
Bmerb1 T A 16: 13,856,180 (GRCm39) probably benign Het
Brca2 T C 5: 150,492,771 (GRCm39) V3262A possibly damaging Het
Bsn T C 9: 107,982,506 (GRCm39) D977G Het
Cic G T 7: 24,990,366 (GRCm39) A1956S possibly damaging Het
Clip4 C A 17: 72,110,587 (GRCm39) T189K probably damaging Het
Col12a1 T C 9: 79,507,220 (GRCm39) E279G Het
Col24a1 A C 3: 145,019,925 (GRCm39) I99L possibly damaging Het
Cpne3 A G 4: 19,532,426 (GRCm39) V329A possibly damaging Het
Cyp17a1 T C 19: 46,659,030 (GRCm39) I204V possibly damaging Het
Cyp2c66 A G 19: 39,130,485 (GRCm39) I107V probably benign Het
Dennd4c A G 4: 86,763,213 (GRCm39) R1840G probably null Het
Dhx36 A T 3: 62,396,012 (GRCm39) L465Q possibly damaging Het
Edc4 A G 8: 106,617,116 (GRCm39) probably benign Het
Efcab3 A G 11: 104,799,896 (GRCm39) T2931A probably damaging Het
Fam133b A T 5: 3,615,744 (GRCm39) R215S unknown Het
Fbh1 G A 2: 11,748,441 (GRCm39) T985I probably benign Het
Fras1 A G 5: 96,892,633 (GRCm39) D2911G probably damaging Het
Gm13889 A T 2: 93,787,020 (GRCm39) D151E probably damaging Het
Gosr2 C A 11: 103,588,530 (GRCm39) probably benign Het
Igkv8-26 T A 6: 70,170,706 (GRCm39) L99H probably damaging Het
Inhca A G 9: 103,143,423 (GRCm39) C438R probably damaging Het
Kif16b A G 2: 142,554,762 (GRCm39) F679L probably damaging Het
Kif1a G C 1: 92,982,423 (GRCm39) probably benign Het
Kif3b G C 2: 153,171,979 (GRCm39) R716S possibly damaging Het
Lilra6 A T 7: 3,915,551 (GRCm39) C395S probably damaging Het
Lrp5 A G 19: 3,647,337 (GRCm39) F1302L probably damaging Het
Map2 T G 1: 66,454,779 (GRCm39) V1223G probably damaging Het
Mical1 T A 10: 41,357,168 (GRCm39) N324K probably damaging Het
Morc3 T A 16: 93,642,064 (GRCm39) H94Q probably benign Het
Mpped1 T C 15: 83,720,663 (GRCm39) V199A possibly damaging Het
Msx1 G A 5: 37,981,544 (GRCm39) T45I probably benign Het
Myh7 G A 14: 55,210,776 (GRCm39) Q1714* probably null Het
Narf T C 11: 121,136,170 (GRCm39) V182A possibly damaging Het
Ncapd2 G A 6: 125,148,006 (GRCm39) T1107M probably damaging Het
Nek3 A G 8: 22,619,359 (GRCm39) probably null Het
Neurog1 G T 13: 56,399,223 (GRCm39) P175T probably damaging Het
Nlrp9c T C 7: 26,085,112 (GRCm39) T156A probably damaging Het
Or1ad1 T A 11: 50,876,368 (GRCm39) V280E probably damaging Het
Or2a20 A T 6: 43,193,978 (GRCm39) I44F probably damaging Het
Or6c3 G A 10: 129,309,061 (GRCm39) A167T probably benign Het
Orm3 A G 4: 63,277,594 (GRCm39) E194G probably benign Het
Pga5 A C 19: 10,654,161 (GRCm39) probably benign Het
Pik3r2 G T 8: 71,225,011 (GRCm39) P151T probably benign Het
Pkp2 T C 16: 16,031,264 (GRCm39) C10R probably benign Het
Plxdc1 T A 11: 97,869,343 (GRCm39) R82W probably damaging Het
Polr2c G A 8: 95,586,895 (GRCm39) A54T probably benign Het
Rab31 T C 17: 66,024,503 (GRCm39) I59V probably benign Het
Rcc2 G A 4: 140,429,586 (GRCm39) C40Y probably benign Het
Rfc1 A C 5: 65,451,436 (GRCm39) probably benign Het
Rhag T C 17: 41,139,679 (GRCm39) I137T probably damaging Het
Rnf216 T C 5: 142,978,616 (GRCm39) M841V probably benign Het
Scaf11 C A 15: 96,312,698 (GRCm39) E1448* probably null Het
Septin11 T C 5: 93,315,435 (GRCm39) L388P unknown Het
Serpina1b A T 12: 103,784,137 (GRCm39) probably benign Het
Skint10 A G 4: 112,573,010 (GRCm39) I262T probably benign Het
Slc13a4 C T 6: 35,245,887 (GRCm39) G586E probably damaging Het
Slc8a1 C T 17: 81,955,352 (GRCm39) G562E probably damaging Het
Slc8b1 T A 5: 120,658,682 (GRCm39) L126Q probably damaging Het
Smg1 A G 7: 117,759,589 (GRCm39) Y2086H unknown Het
Spmip10 A G 18: 56,727,763 (GRCm39) N79S Het
Taf1c A T 8: 120,330,202 (GRCm39) D47E probably benign Het
Tbx5 A C 5: 119,991,678 (GRCm39) M250L probably benign Het
Tekt3 T C 11: 62,974,785 (GRCm39) probably null Het
Topors T C 4: 40,262,221 (GRCm39) I354M probably benign Het
Ttn C A 2: 76,778,574 (GRCm39) G1309V unknown Het
Ttyh1 C T 7: 4,127,622 (GRCm39) probably benign Het
Ubac1 A G 2: 25,897,909 (GRCm39) I237T probably benign Het
Vmn1r197 T A 13: 22,512,388 (GRCm39) V103D probably damaging Het
Zfp184 T C 13: 22,143,008 (GRCm39) F238S probably damaging Het
Zfp445 A G 9: 122,681,032 (GRCm39) F970L possibly damaging Het
Zfp90 A T 8: 107,151,112 (GRCm39) E275V probably damaging Het
Zscan12 C G 13: 21,553,492 (GRCm39) Q439E 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
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
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
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'- CTTTTCAGACTACAGGAGGGAC -3'
(R):5'- TTGCTTCCGGTTTCAGAAAGC -3'

Sequencing Primer
(F):5'- TTCAGACTACAGGAGGGACACTTTC -3'
(R):5'- TCAGAAAGCCGGTTTCATCG -3'
Posted On 2020-01-23