Incidental Mutation 'R7175:Rasgrf1'
ID 558553
Institutional Source Beutler Lab
Gene Symbol Rasgrf1
Ensembl Gene ENSMUSG00000032356
Gene Name RAS protein-specific guanine nucleotide-releasing factor 1
Synonyms Grf1, CDC25Mm, Grfbeta, CDC25
MMRRC Submission 045231-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7175 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 89791961-89909030 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89862802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 519 (N519K)
Ref Sequence ENSEMBL: ENSMUSP00000034912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034912]
AlphaFold P27671
PDB Structure Crystal Structure of the Cdc25 domain of RasGRF1 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000034912
AA Change: N519K

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000034912
Gene: ENSMUSG00000032356
AA Change: N519K

DomainStartEndE-ValueType
PH 23 132 2.48e-18 SMART
Blast:RhoGEF 146 196 4e-6 BLAST
IQ 205 227 5.27e0 SMART
RhoGEF 248 429 1.96e-57 SMART
PH 461 590 1.51e-8 SMART
RasGEFN 634 767 3.07e-10 SMART
low complexity region 844 855 N/A INTRINSIC
RasGEFN 869 997 5.86e-7 SMART
RasGEF 1023 1260 1.85e-99 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta-gamma subunit. Mouse studies also indicated that the Ras-GEF signaling pathway mediated by this protein may be important for long-term memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygotes for null mutations (and heterozygotes with a paternally inherited mutant allele) exhibit reduced postnatal growth, low insulin and IGF I levels, glucose intolerance, beta-cell hypoplasia, impaired long-term synaptic plasticity, and impaired hippocampal-dependent learning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G A 12: 118,831,611 (GRCm39) T1247I probably benign Het
Afdn T C 17: 14,108,869 (GRCm39) L1479P probably damaging Het
Alox12e T C 11: 70,210,534 (GRCm39) R363G probably damaging Het
Ank2 A T 3: 126,740,590 (GRCm39) S1765T unknown Het
Anks6 T C 4: 47,046,268 (GRCm39) probably null Het
Apob A C 12: 8,057,034 (GRCm39) I1839L probably benign Het
Bdp1 C A 13: 100,186,478 (GRCm39) R1658I probably damaging Het
Ccs T A 19: 4,883,390 (GRCm39) D136V probably damaging Het
Cd200 T C 16: 45,220,578 (GRCm39) probably null Het
Cirbp T C 10: 80,006,297 (GRCm39) S130P probably benign Het
Cpb1 A G 3: 20,317,927 (GRCm39) I199T probably benign Het
Csn3 C T 5: 88,077,586 (GRCm39) R31C probably damaging Het
Dcaf1 A T 9: 106,735,775 (GRCm39) I908F probably benign Het
Dhcr7 C T 7: 143,399,227 (GRCm39) T199I probably damaging Het
Dnah9 T A 11: 66,024,463 (GRCm39) Q277L probably benign Het
Echdc2 C A 4: 108,031,366 (GRCm39) P237T probably damaging Het
Efcab3 T C 11: 104,838,237 (GRCm39) V3625A unknown Het
Eif4g3 A G 4: 137,853,526 (GRCm39) N364S probably damaging Het
Eml6 T A 11: 29,734,231 (GRCm39) I1170L probably benign Het
Epha3 C T 16: 63,403,863 (GRCm39) R746Q probably damaging Het
Exosc5 G A 7: 25,363,794 (GRCm39) C102Y probably damaging Het
Fam91a1 A T 15: 58,302,527 (GRCm39) Y289F probably benign Het
Fbxo38 A C 18: 62,648,544 (GRCm39) F665V probably benign Het
Fcrl5 T C 3: 87,353,645 (GRCm39) V330A probably benign Het
Fer T A 17: 64,231,090 (GRCm39) D280E probably benign Het
Gpr158 A G 2: 21,373,113 (GRCm39) H16R probably benign Het
Gzmg C T 14: 56,396,979 (GRCm39) M1I probably null Het
Hectd4 C T 5: 121,411,692 (GRCm39) A456V possibly damaging Het
Hk2 T A 6: 82,711,830 (GRCm39) Q613L probably benign Het
Inhca A G 9: 103,128,988 (GRCm39) probably null Het
Itsn1 T C 16: 91,664,938 (GRCm39) F1121L unknown Het
Lztr1 G T 16: 17,340,895 (GRCm39) C557F possibly damaging Het
Mdn1 A G 4: 32,694,634 (GRCm39) Y1119C probably damaging Het
Nfkb1 A T 3: 135,319,751 (GRCm39) L248Q probably damaging Het
Or1a1 T A 11: 74,087,004 (GRCm39) L225* probably null Het
Or1p1b T C 11: 74,130,803 (GRCm39) F138L probably benign Het
Or2g7 T A 17: 38,378,370 (GRCm39) S103T probably damaging Het
Or52e19 T C 7: 102,959,054 (GRCm39) V42A probably benign Het
Otulinl A C 15: 27,658,374 (GRCm39) D165E probably damaging Het
Pate1 T G 9: 35,596,408 (GRCm39) D119A probably damaging Het
Pcdhgc4 T C 18: 37,949,424 (GRCm39) V280A possibly damaging Het
Pik3ap1 T C 19: 41,275,929 (GRCm39) D717G probably damaging Het
Prdm13 A T 4: 21,679,473 (GRCm39) L339Q unknown Het
Rergl A G 6: 139,473,533 (GRCm39) V39A probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Sema4b T A 7: 79,848,402 (GRCm39) M1K probably null Het
Slc20a1 T G 2: 129,052,662 (GRCm39) L648R probably damaging Het
Spata31h1 T A 10: 82,122,583 (GRCm39) S3476C probably damaging Het
Speg A G 1: 75,399,134 (GRCm39) T2194A probably benign Het
Spns1 T C 7: 125,972,961 (GRCm39) D215G probably damaging Het
Tle4 A T 19: 14,429,071 (GRCm39) V717E probably damaging Het
Trim50 T A 5: 135,382,151 (GRCm39) M1K probably null Het
Trpa1 A G 1: 14,963,431 (GRCm39) V597A possibly damaging Het
Usp13 C T 3: 32,971,757 (GRCm39) Q746* probably null Het
Vmn1r35 A T 6: 66,655,906 (GRCm39) W255R probably benign Het
Vps35 A T 8: 85,990,189 (GRCm39) probably null Het
Vps54 T C 11: 21,265,028 (GRCm39) probably null Het
Zfp318 T A 17: 46,697,774 (GRCm39) L210Q probably damaging Het
Zfp319 C A 8: 96,055,410 (GRCm39) K264N probably damaging Het
Zfp62 C T 11: 49,107,580 (GRCm39) S557L probably damaging Het
Zgrf1 T C 3: 127,357,239 (GRCm39) S822P probably damaging Het
Zxdc A G 6: 90,346,645 (GRCm39) D2G possibly damaging Het
Zzef1 T C 11: 72,742,727 (GRCm39) I769T possibly damaging Het
Other mutations in Rasgrf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Rasgrf1 APN 9 89,852,534 (GRCm39) missense probably damaging 1.00
IGL00763:Rasgrf1 APN 9 89,853,073 (GRCm39) missense probably benign 0.05
IGL01336:Rasgrf1 APN 9 89,873,583 (GRCm39) missense probably benign 0.00
IGL01710:Rasgrf1 APN 9 89,873,745 (GRCm39) missense probably benign 0.18
IGL01807:Rasgrf1 APN 9 89,873,566 (GRCm39) missense probably damaging 0.99
IGL01939:Rasgrf1 APN 9 89,856,889 (GRCm39) missense probably damaging 0.99
IGL02453:Rasgrf1 APN 9 89,826,813 (GRCm39) missense possibly damaging 0.76
IGL02961:Rasgrf1 APN 9 89,863,702 (GRCm39) missense possibly damaging 0.88
IGL03009:Rasgrf1 APN 9 89,873,756 (GRCm39) missense possibly damaging 0.75
IGL03369:Rasgrf1 APN 9 89,892,504 (GRCm39) missense probably damaging 1.00
IGL03373:Rasgrf1 APN 9 89,899,084 (GRCm39) splice site probably benign
Malenkiy UTSW 9 89,892,537 (GRCm39) splice site probably null
Pigeon UTSW 9 89,849,968 (GRCm39) missense probably damaging 1.00
PIT4142001:Rasgrf1 UTSW 9 89,797,626 (GRCm39) missense possibly damaging 0.91
R0234:Rasgrf1 UTSW 9 89,891,419 (GRCm39) missense probably damaging 1.00
R0629:Rasgrf1 UTSW 9 89,866,322 (GRCm39) missense probably damaging 1.00
R0685:Rasgrf1 UTSW 9 89,797,535 (GRCm39) utr 3 prime probably benign
R0730:Rasgrf1 UTSW 9 89,833,062 (GRCm39) splice site probably benign
R0835:Rasgrf1 UTSW 9 89,882,824 (GRCm39) missense probably benign
R1432:Rasgrf1 UTSW 9 89,894,853 (GRCm39) missense probably benign 0.35
R1647:Rasgrf1 UTSW 9 89,835,973 (GRCm39) missense probably benign 0.28
R1717:Rasgrf1 UTSW 9 89,835,966 (GRCm39) missense probably damaging 0.98
R1933:Rasgrf1 UTSW 9 89,835,966 (GRCm39) missense probably damaging 0.98
R1934:Rasgrf1 UTSW 9 89,835,966 (GRCm39) missense probably damaging 0.98
R2187:Rasgrf1 UTSW 9 89,876,888 (GRCm39) missense possibly damaging 0.93
R2240:Rasgrf1 UTSW 9 89,858,815 (GRCm39) missense probably damaging 0.99
R2940:Rasgrf1 UTSW 9 89,873,767 (GRCm39) missense possibly damaging 0.84
R3949:Rasgrf1 UTSW 9 89,863,797 (GRCm39) splice site probably benign
R4751:Rasgrf1 UTSW 9 89,894,919 (GRCm39) missense probably damaging 1.00
R4751:Rasgrf1 UTSW 9 89,792,171 (GRCm39) missense probably damaging 1.00
R4901:Rasgrf1 UTSW 9 89,877,056 (GRCm39) missense probably benign 0.00
R4910:Rasgrf1 UTSW 9 89,858,805 (GRCm39) missense probably benign 0.00
R4961:Rasgrf1 UTSW 9 89,826,922 (GRCm39) missense probably benign 0.06
R5270:Rasgrf1 UTSW 9 89,908,747 (GRCm39) missense probably benign 0.00
R5320:Rasgrf1 UTSW 9 89,902,478 (GRCm39) missense probably damaging 0.99
R5602:Rasgrf1 UTSW 9 89,793,624 (GRCm39) missense possibly damaging 0.73
R5659:Rasgrf1 UTSW 9 89,866,342 (GRCm39) missense probably damaging 1.00
R5960:Rasgrf1 UTSW 9 89,903,437 (GRCm39) missense possibly damaging 0.69
R6074:Rasgrf1 UTSW 9 89,835,968 (GRCm39) missense probably benign 0.01
R6400:Rasgrf1 UTSW 9 89,873,683 (GRCm39) missense probably damaging 1.00
R6596:Rasgrf1 UTSW 9 89,894,847 (GRCm39) missense possibly damaging 0.92
R6603:Rasgrf1 UTSW 9 89,792,310 (GRCm39) missense probably damaging 0.96
R6647:Rasgrf1 UTSW 9 89,892,516 (GRCm39) missense probably benign 0.00
R6813:Rasgrf1 UTSW 9 89,892,537 (GRCm39) splice site probably null
R7136:Rasgrf1 UTSW 9 89,873,651 (GRCm39) missense probably damaging 1.00
R7155:Rasgrf1 UTSW 9 89,884,414 (GRCm39) missense possibly damaging 0.90
R7202:Rasgrf1 UTSW 9 89,899,125 (GRCm39) missense possibly damaging 0.49
R7219:Rasgrf1 UTSW 9 89,866,341 (GRCm39) missense probably damaging 1.00
R7244:Rasgrf1 UTSW 9 89,876,810 (GRCm39) missense probably damaging 1.00
R7733:Rasgrf1 UTSW 9 89,863,780 (GRCm39) missense probably benign 0.01
R7764:Rasgrf1 UTSW 9 89,876,747 (GRCm39) missense possibly damaging 0.94
R8210:Rasgrf1 UTSW 9 89,793,675 (GRCm39) missense unknown
R8421:Rasgrf1 UTSW 9 89,849,968 (GRCm39) missense probably damaging 1.00
R8524:Rasgrf1 UTSW 9 89,797,638 (GRCm39) missense possibly damaging 0.53
R8526:Rasgrf1 UTSW 9 89,856,901 (GRCm39) missense probably damaging 0.96
R8697:Rasgrf1 UTSW 9 89,877,055 (GRCm39) missense probably benign
R9133:Rasgrf1 UTSW 9 89,793,600 (GRCm39) missense probably benign
R9153:Rasgrf1 UTSW 9 89,826,790 (GRCm39) missense probably damaging 1.00
R9191:Rasgrf1 UTSW 9 89,883,923 (GRCm39) missense probably damaging 1.00
R9349:Rasgrf1 UTSW 9 89,884,460 (GRCm39) missense probably damaging 0.99
R9468:Rasgrf1 UTSW 9 89,880,756 (GRCm39) missense probably benign 0.00
R9498:Rasgrf1 UTSW 9 89,826,921 (GRCm39) missense probably benign
R9747:Rasgrf1 UTSW 9 89,877,047 (GRCm39) missense probably benign
R9779:Rasgrf1 UTSW 9 89,873,551 (GRCm39) missense probably damaging 0.99
Z1177:Rasgrf1 UTSW 9 89,832,970 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTGAGGAAAATCATTTCACTGAC -3'
(R):5'- TCAGGGGCCATCCTATTTGC -3'

Sequencing Primer
(F):5'- ACCTCAGCGGGTTCTGTAAAG -3'
(R):5'- AGGGGCCATCCTATTTGCACATC -3'
Posted On 2019-06-26