Incidental Mutation 'R0629:Rasgrf1'
ID 57761
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 038818-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0629 (G1)
Quality Score 221
Status Validated
Chromosome 9
Chromosomal Location 89791961-89909030 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 89866322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 587 (V587M)
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 damaging
Transcript: ENSMUST00000034912
AA Change: V587M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034912
Gene: ENSMUSG00000032356
AA Change: V587M

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
Meta Mutation Damage Score 0.1011 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.6%
Validation Efficiency 100% (66/66)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 A T 17: 45,818,473 (GRCm39) D86V probably damaging Het
Adamts14 G A 10: 61,047,403 (GRCm39) Q733* probably null Het
Adcy10 A G 1: 165,370,674 (GRCm39) D651G probably damaging Het
Apcdd1 T A 18: 63,067,041 (GRCm39) C52S probably damaging Het
Bclaf1 T C 10: 20,209,172 (GRCm39) S463P probably damaging Het
Cabcoco1 T C 10: 68,352,108 (GRCm39) Y68C probably damaging Het
Cacna1f G A X: 7,486,673 (GRCm39) S888N probably damaging Het
Cacna1g A G 11: 94,300,369 (GRCm39) C2134R possibly damaging Het
Cdc37 A C 9: 21,052,064 (GRCm39) M325R possibly damaging Het
Clca3a2 T A 3: 144,778,000 (GRCm39) M762L probably benign Het
Cntn3 C T 6: 102,180,937 (GRCm39) V753M probably damaging Het
Col6a6 A T 9: 105,604,364 (GRCm39) probably benign Het
Dscaml1 A G 9: 45,632,716 (GRCm39) D1194G probably damaging Het
Egfr G A 11: 16,819,333 (GRCm39) G288S probably damaging Het
Fbxl17 G T 17: 63,778,409 (GRCm39) N19K probably damaging Het
Fmo3 A G 1: 162,785,796 (GRCm39) probably benign Het
Frmd6 T C 12: 70,930,536 (GRCm39) Y219H probably damaging Het
Fuca1 T C 4: 135,652,955 (GRCm39) V193A possibly damaging Het
Gm7461 C T 8: 4,727,769 (GRCm39) noncoding transcript Het
Gpc5 T A 14: 115,789,651 (GRCm39) N508K possibly damaging Het
Iqch A T 9: 63,332,664 (GRCm39) D1019E probably benign Het
Isyna1 A G 8: 71,047,358 (GRCm39) Y27C probably damaging Het
Itgb8 T G 12: 119,166,216 (GRCm39) H105P probably benign Het
Kbtbd11 C T 8: 15,077,572 (GRCm39) P57L probably benign Het
Kcns3 A C 12: 11,142,559 (GRCm39) C47G probably damaging Het
Kif21b A T 1: 136,099,895 (GRCm39) probably null Het
Lama3 A T 18: 12,552,302 (GRCm39) H418L possibly damaging Het
Lrit3 A G 3: 129,581,951 (GRCm39) Y679H probably damaging Het
Lrrc19 T A 4: 94,526,489 (GRCm39) D356V probably damaging Het
Morc2b A G 17: 33,354,781 (GRCm39) M997T probably benign Het
Mroh9 T C 1: 162,888,205 (GRCm39) H290R possibly damaging Het
Mtcl1 A T 17: 66,645,137 (GRCm39) S1886T possibly damaging Het
Muc20 T C 16: 32,613,791 (GRCm39) T529A possibly damaging Het
Myo7a A C 7: 97,734,673 (GRCm39) L607R probably damaging Het
Myom2 T A 8: 15,119,783 (GRCm39) F180I probably damaging Het
Myt1l G A 12: 29,861,484 (GRCm39) E89K unknown Het
Nek2 A G 1: 191,563,429 (GRCm39) N431S probably benign Het
Oprm1 A T 10: 6,782,604 (GRCm39) probably null Het
Or2aj4 A T 16: 19,384,730 (GRCm39) V301E possibly damaging Het
Or5t7 T A 2: 86,506,873 (GRCm39) H268L possibly damaging Het
Oxsr1 A G 9: 119,070,850 (GRCm39) probably benign Het
Pasd1 G C X: 70,982,379 (GRCm39) R296P possibly damaging Het
Pdgfrb G A 18: 61,211,720 (GRCm39) probably null Het
Proser1 C A 3: 53,386,485 (GRCm39) P789Q probably benign Het
Ptgs2 A G 1: 149,976,788 (GRCm39) Q7R probably benign Het
Rab3d A G 9: 21,825,982 (GRCm39) V144A probably benign Het
Ralgapb T A 2: 158,281,467 (GRCm39) L167H probably damaging Het
Ranbp3 A G 17: 57,015,200 (GRCm39) T301A possibly damaging Het
Sec16b A G 1: 157,392,433 (GRCm39) probably benign Het
Sin3b T C 8: 73,480,164 (GRCm39) probably benign Het
Slc10a2 T C 8: 5,148,562 (GRCm39) S128G probably benign Het
Tbl1xr1 G A 3: 22,264,565 (GRCm39) V507I probably benign Het
Tmem8b T G 4: 43,669,896 (GRCm39) probably null Het
Trak1 A T 9: 121,196,233 (GRCm39) T22S probably benign Het
Trim30d A G 7: 104,136,862 (GRCm39) I114T probably damaging Het
Ttc13 A T 8: 125,401,105 (GRCm39) S624T probably damaging Het
Ttn T C 2: 76,658,474 (GRCm39) probably benign Het
Vipr1 T A 9: 121,489,237 (GRCm39) Y99* probably null Het
Vmn1r210 T C 13: 23,012,044 (GRCm39) K81E probably damaging Het
Wwc1 T C 11: 35,744,299 (GRCm39) Y841C probably benign Het
Xrcc4 A G 13: 90,149,024 (GRCm39) probably benign Het
Zdhhc22 A T 12: 87,035,071 (GRCm39) I127N probably damaging Het
Zdhhc7 A G 8: 120,814,785 (GRCm39) L8P possibly damaging Het
Zfp664 C A 5: 124,962,659 (GRCm39) L18I 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
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
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'- TGACACTGGCTTCAAAGAGTGACC -3'
(R):5'- TGAAATGAATCCCCAGCATCTTCCC -3'

Sequencing Primer
(F):5'- gtcaagtcagtcccccaag -3'
(R):5'- AGCATCTTCCCAGTTCCAGAG -3'
Posted On 2013-07-11