Incidental Mutation 'R1437:Rasgrf2'
ID 161324
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 039492-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R1437 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 92028519-92268164 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92167396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 226 (K226E)
Ref Sequence ENSEMBL: ENSMUSP00000116203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099326] [ENSMUST00000146492] [ENSMUST00000216219]
AlphaFold P70392
Predicted Effect possibly damaging
Transcript: ENSMUST00000099326
AA Change: K226E

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000096930
Gene: ENSMUSG00000021708
AA Change: K226E

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: K226E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116203
Gene: ENSMUSG00000021708
AA Change: K226E

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 unknown
Transcript: ENSMUST00000149630
AA Change: K6E
SMART Domains Protein: ENSMUSP00000115562
Gene: ENSMUSG00000021708
AA Change: K6E

DomainStartEndE-ValueType
Pfam:RhoGEF 28 168 4.3e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216219
AA Change: K226E

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.3%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,871,436 (GRCm39) V330E possibly damaging Het
Abcb5 A G 12: 118,838,497 (GRCm39) S1022P probably damaging Het
Abcc8 A G 7: 45,829,237 (GRCm39) I46T probably damaging Het
Add3 A G 19: 53,222,109 (GRCm39) R275G probably damaging Het
Akap1 C A 11: 88,735,577 (GRCm39) G362* probably null Het
Arhgef4 A G 1: 34,763,026 (GRCm39) T761A unknown Het
Asap1 A T 15: 63,991,956 (GRCm39) L751Q probably damaging Het
Atg2a C A 19: 6,300,646 (GRCm39) P741H probably damaging Het
Atxn10 T C 15: 85,243,675 (GRCm39) I46T possibly damaging Het
BC049715 C A 6: 136,817,090 (GRCm39) A110E probably damaging Het
Bltp1 C A 3: 36,996,578 (GRCm39) H1097N possibly damaging Het
Btbd7 T A 12: 102,754,349 (GRCm39) T806S possibly damaging Het
Cdk4 C A 10: 126,900,558 (GRCm39) P108H probably damaging Het
Cep290 A G 10: 100,407,963 (GRCm39) T2391A probably benign Het
Col6a3 G T 1: 90,729,098 (GRCm39) A1281E probably damaging Het
Cpa5 A T 6: 30,624,654 (GRCm39) I165F probably damaging Het
Ctdp1 G T 18: 80,493,428 (GRCm39) Q356K probably benign Het
Ddx21 A G 10: 62,434,369 (GRCm39) M130T unknown Het
Epha5 T G 5: 84,381,555 (GRCm39) D432A probably damaging Het
Esr1 ACGCCGCCGCCGCCGCCGCCGCCGCCGCC ACGCCGCCGCCGCCGCCGCCGCCGCC 10: 4,662,571 (GRCm39) probably benign Het
Fads2 A T 19: 10,069,193 (GRCm39) L77Q probably benign Het
Fbn2 A T 18: 58,186,731 (GRCm39) H1723Q possibly damaging Het
Fbxo42 C T 4: 140,895,165 (GRCm39) H43Y probably benign Het
Fry A G 5: 150,233,890 (GRCm39) T121A possibly damaging Het
Gpr156 T G 16: 37,808,904 (GRCm39) S209A probably damaging Het
Hey2 T C 10: 30,709,845 (GRCm39) T303A probably benign Het
Hivep1 T A 13: 42,310,616 (GRCm39) M952K probably benign Het
Hydin C T 8: 111,308,617 (GRCm39) Q3968* probably null Het
Jup T C 11: 100,274,402 (GRCm39) E96G probably benign Het
Kcnn1 A G 8: 71,297,195 (GRCm39) I504T probably benign Het
Klk1b9 T C 7: 43,629,114 (GRCm39) V174A probably damaging Het
Lama3 G C 18: 12,682,284 (GRCm39) M1083I possibly damaging Het
Lcmt2 A G 2: 120,969,377 (GRCm39) S569P probably benign Het
Lrfn2 T C 17: 49,378,253 (GRCm39) S445P probably damaging Het
Lrp3 C A 7: 34,912,595 (GRCm39) G31W probably damaging Het
Lrrc8b T C 5: 105,629,568 (GRCm39) L638P probably damaging Het
Mief2 C T 11: 60,621,769 (GRCm39) T113M probably benign Het
Mrps2 T C 2: 28,358,899 (GRCm39) F76S probably damaging Het
Naca A G 10: 127,878,048 (GRCm39) probably benign Het
Ndst4 C A 3: 125,355,099 (GRCm39) R336S probably damaging Het
Nr1i3 CACTCAACACTAC CAC 1: 171,044,710 (GRCm39) probably null Het
Nr5a1 T A 2: 38,600,685 (GRCm39) T29S probably benign Het
Or5ak23 T C 2: 85,245,218 (GRCm39) I2V probably benign Het
Or5as1 C T 2: 86,980,115 (GRCm39) V297M possibly damaging Het
Pald1 A G 10: 61,177,064 (GRCm39) F662S possibly damaging Het
Pdcd4 G T 19: 53,897,674 (GRCm39) A59S probably damaging Het
Pde4a T C 9: 21,103,888 (GRCm39) probably null Het
Pkd1 T A 17: 24,814,106 (GRCm39) S4159T probably damaging Het
Plaat1 C A 16: 29,046,922 (GRCm39) A147E possibly damaging Het
Plch1 C A 3: 63,604,954 (GRCm39) R1641L probably benign Het
Plec G T 15: 76,073,481 (GRCm39) P308Q probably damaging Het
Pnkp A G 7: 44,509,826 (GRCm39) S262G possibly damaging Het
Pou2f1 A G 1: 165,719,399 (GRCm39) V504A probably damaging Het
Prepl G A 17: 85,395,785 (GRCm39) R66W probably damaging Het
Ror1 T A 4: 100,269,306 (GRCm39) F381L probably benign Het
Sbsn C T 7: 30,452,478 (GRCm39) Q498* probably null Het
Scgb2b19 T C 7: 32,977,980 (GRCm39) I106V probably benign Het
Sf3a2 G A 10: 80,640,040 (GRCm39) probably benign Het
Sis T C 3: 72,841,475 (GRCm39) H780R probably damaging Het
Slc28a3 G T 13: 58,706,389 (GRCm39) C617* probably null Het
Slc44a1 T A 4: 53,561,006 (GRCm39) V574D probably damaging Het
Slc8a3 T A 12: 81,362,760 (GRCm39) T20S probably damaging Het
Stt3b T A 9: 115,083,995 (GRCm39) I394F probably damaging Het
Ubap1l T A 9: 65,279,337 (GRCm39) V212D possibly damaging Het
Ugt2b35 T C 5: 87,148,890 (GRCm39) V47A probably benign Het
Vmn2r114 A G 17: 23,510,185 (GRCm39) F765S probably damaging Het
Vps50 C T 6: 3,517,852 (GRCm39) Q97* probably null Het
Vsig10 A G 5: 117,489,635 (GRCm39) Q467R probably damaging Het
Wdsub1 T G 2: 59,708,477 (GRCm39) Y11S probably damaging Het
Zbtb11 T G 16: 55,811,983 (GRCm39) probably null 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
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'- TCCGTCTCCTTCAGCTTGGAAGAG -3'
(R):5'- GAACGCATCATCCTAAGGGTGTCG -3'

Sequencing Primer
(F):5'- TCTTTTCAGACTACAGGAGGGAC -3'
(R):5'- CCTAAGGGTGTCGTTTATATGGTTC -3'
Posted On 2014-03-14