Incidental Mutation 'R2940:Rasgrf1'
ID 255141
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 040517-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2940 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 89791961-89909030 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 89873767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 692 (A692V)
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 possibly damaging
Transcript: ENSMUST00000034912
AA Change: A692V

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034912
Gene: ENSMUSG00000032356
AA Change: A692V

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy2 A G 13: 68,878,424 (GRCm39) W405R probably damaging Het
Apc G A 18: 34,409,723 (GRCm39) R221H probably damaging Het
Armcx6 A T X: 133,650,625 (GRCm39) W69R probably damaging Het
Bltp1 A G 3: 37,012,954 (GRCm39) D1878G probably damaging Het
Carm1 C A 9: 21,490,692 (GRCm39) probably null Het
Clasrp C A 7: 19,319,165 (GRCm39) probably benign Het
Cngb1 T C 8: 95,978,735 (GRCm39) I573V probably benign Het
Crybg2 A G 4: 133,809,745 (GRCm39) H1517R possibly damaging Het
Dixdc1 G A 9: 50,622,259 (GRCm39) A25V probably damaging Het
Dmap1 G A 4: 117,533,202 (GRCm39) T284M possibly damaging Het
Dock6 A G 9: 21,750,496 (GRCm39) F473L possibly damaging Het
Eif3a T C 19: 60,762,115 (GRCm39) T487A probably benign Het
Faiml A G 9: 99,114,527 (GRCm39) C121R probably damaging Het
Fam180a A T 6: 35,290,564 (GRCm39) S140T possibly damaging Het
Fibcd1 T C 2: 31,707,276 (GRCm39) Y327C probably damaging Het
Haghl A G 17: 26,004,060 (GRCm39) V8A possibly damaging Het
Igfbp1 A G 11: 7,151,970 (GRCm39) T258A probably benign Het
Isl1 T C 13: 116,444,835 (GRCm39) T65A possibly damaging Het
Khdrbs3 T A 15: 68,921,239 (GRCm39) D185E probably damaging Het
Klc1 C T 12: 111,772,451 (GRCm39) R157C possibly damaging Het
Lamc3 A G 2: 31,830,714 (GRCm39) S1484G probably benign Het
Lman1 G T 18: 66,117,344 (GRCm39) P466Q possibly damaging Het
Map3k4 C T 17: 12,480,157 (GRCm39) E682K probably damaging Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nbea C G 3: 55,842,045 (GRCm39) E1879Q probably benign Het
Or8b12i C A 9: 20,082,061 (GRCm39) G269W probably benign Het
Or8g34 G A 9: 39,373,226 (GRCm39) M166I probably benign Het
Pigc T C 1: 161,798,239 (GRCm39) Y74H possibly damaging Het
Plek C T 11: 16,942,887 (GRCm39) probably null Het
Pramel28 A G 4: 143,693,247 (GRCm39) V77A probably benign Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rnf25 A G 1: 74,635,047 (GRCm39) V135A possibly damaging Het
Senp6 G A 9: 80,051,124 (GRCm39) A1134T probably benign Het
Sh3rf2 G A 18: 42,244,505 (GRCm39) probably null Het
Sh3tc2 A G 18: 62,122,757 (GRCm39) D506G probably damaging Het
Slc13a1 T A 6: 24,090,779 (GRCm39) I547F possibly damaging Het
Slc26a6 G A 9: 108,734,236 (GRCm39) V206I probably benign Het
Smc1a T A X: 150,816,695 (GRCm39) Y516N probably damaging Het
Sorbs1 T C 19: 40,362,015 (GRCm39) D123G probably damaging Het
Tecta A T 9: 42,289,290 (GRCm39) M425K possibly damaging Het
Trpv1 A G 11: 73,145,675 (GRCm39) K403R probably damaging Het
Ttc39d A G 17: 80,524,982 (GRCm39) Y547C probably damaging Het
Tubb6 A G 18: 67,534,994 (GRCm39) N298D probably damaging Het
Xpo7 G T 14: 70,904,577 (GRCm39) L1020I probably benign Het
Xpo7 A T 14: 70,904,576 (GRCm39) L1020Q probably damaging Het
Zswim4 A T 8: 84,950,377 (GRCm39) L611Q probably 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
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
R7175:Rasgrf1 UTSW 9 89,862,802 (GRCm39) missense probably benign 0.02
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'- GTGCTTCAGATCCGCTATGC -3'
(R):5'- CCTTATGGGCTGAGAAATATGTGG -3'

Sequencing Primer
(F):5'- GCTATGCCAGCGTGGAG -3'
(R):5'- GGTGCATGGTCCCAGTAG -3'
Posted On 2014-12-29