Incidental Mutation 'R1717:Rasgrf1'
ID 191132
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 039750-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1717 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 89791961-89909030 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 89835966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 231 (Q231H)
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: Q231H

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034912
Gene: ENSMUSG00000032356
AA Change: Q231H

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 0.1246 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 98% (81/83)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732465J04Rik GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT 10: 95,629,641 (GRCm39) probably null Het
4930583I09Rik T C 17: 65,141,444 (GRCm39) N53S unknown Het
4933434E20Rik T A 3: 89,963,544 (GRCm39) S67T probably benign Het
Abcc8 T C 7: 45,765,239 (GRCm39) I1127V possibly damaging Het
Abcg3 G A 5: 105,111,421 (GRCm39) Q349* probably null Het
Adam2 A G 14: 66,306,007 (GRCm39) L158P probably damaging Het
Agrn GCTCT GCTCTCT 4: 156,250,976 (GRCm39) probably null Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Akap11 C A 14: 78,750,788 (GRCm39) S533I probably benign Het
Aldh1a2 A T 9: 71,200,953 (GRCm39) N517I probably damaging Het
Aldh4a1 A T 4: 139,365,840 (GRCm39) H277L possibly damaging Het
Aldh4a1 G A 4: 139,361,305 (GRCm39) probably null Het
Ankrd27 A G 7: 35,327,871 (GRCm39) D742G possibly damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arhgef7 C A 8: 11,858,712 (GRCm39) probably benign Het
Arhgef7 C A 8: 11,858,713 (GRCm39) probably null Het
Armh4 T C 14: 49,989,121 (GRCm39) D616G probably damaging Het
Arvcf A G 16: 18,220,319 (GRCm39) K568E possibly damaging Het
Atp8b3 G A 10: 80,364,631 (GRCm39) R521W probably damaging Het
Casp16 A G 17: 23,771,024 (GRCm39) I127T possibly damaging Het
Cd163 A G 6: 124,306,547 (GRCm39) probably benign Het
Cdh8 A T 8: 99,757,337 (GRCm39) S754T probably damaging Het
Cel A G 2: 28,446,789 (GRCm39) Y461H probably damaging Het
Chmp4b A G 2: 154,499,240 (GRCm39) I47V possibly damaging Het
Col1a1 A G 11: 94,839,218 (GRCm39) M989V unknown Het
Cpsf1 A T 15: 76,486,766 (GRCm39) S257T possibly damaging Het
Csmd1 A T 8: 17,266,708 (GRCm39) S73T possibly damaging Het
Csnk2a2 T C 8: 96,182,436 (GRCm39) probably null Het
Dact2 A T 17: 14,418,175 (GRCm39) W177R probably benign Het
Ddx10 A G 9: 53,071,253 (GRCm39) V680A probably benign Het
Eif5 T A 12: 111,508,651 (GRCm39) D215E probably benign Het
Evpl C T 11: 116,116,318 (GRCm39) A817T probably benign Het
Fmo6 T A 1: 162,753,821 (GRCm39) R131* probably null Het
Fsd2 T C 7: 81,184,857 (GRCm39) T680A probably benign Het
Fsip2 T C 2: 82,805,289 (GRCm39) V536A possibly damaging Het
Fzd8 T C 18: 9,214,364 (GRCm39) F482S probably damaging Het
Gabrb1 A T 5: 72,265,694 (GRCm39) probably null Het
Galnt9 T G 5: 110,744,078 (GRCm39) I304S probably benign Het
Glra3 G T 8: 56,393,942 (GRCm39) A18S probably benign Het
Gm5334 A C 7: 68,268,725 (GRCm39) noncoding transcript Het
Grcc10 A T 6: 124,717,476 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,734,937 (GRCm39) T192A probably damaging Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Irgm2 T A 11: 58,111,461 (GRCm39) L396Q probably damaging Het
Ksr2 T A 5: 117,809,514 (GRCm39) C426S probably damaging Het
Lair1 A G 7: 4,013,788 (GRCm39) F153S probably damaging Het
Lrp1 T C 10: 127,392,138 (GRCm39) H2835R possibly damaging Het
Lrp1 T C 10: 127,399,534 (GRCm39) T2325A probably damaging Het
Lrrd1 T C 5: 3,900,580 (GRCm39) F295S probably damaging Het
Meis1 T A 11: 18,960,608 (GRCm39) probably benign Het
Mkln1 T A 6: 31,484,579 (GRCm39) I156K probably benign Het
Mmd2 T C 5: 142,561,105 (GRCm39) probably benign Het
Morc1 A G 16: 48,272,840 (GRCm39) I156V probably benign Het
Muc4 A G 16: 32,753,405 (GRCm38) T1094A possibly damaging Het
Nckap1 A G 2: 80,343,014 (GRCm39) probably benign Het
Neb A G 2: 52,198,759 (GRCm39) I394T possibly damaging Het
Or12e1 A T 2: 87,022,247 (GRCm39) N72I probably benign Het
Or2t49 T A 11: 58,392,885 (GRCm39) M166L probably benign Het
Or4e2 T C 14: 52,688,296 (GRCm39) V142A probably benign Het
Or5as1 A T 2: 86,980,150 (GRCm39) L285* probably null Het
Or8d1b C T 9: 38,887,706 (GRCm39) L245F probably damaging Het
Pcdha1 T C 18: 37,065,237 (GRCm39) S634P probably benign Het
Pcdhb12 T A 18: 37,569,841 (GRCm39) V329E probably damaging Het
Pcf11 A T 7: 92,312,793 (GRCm39) D193E probably benign Het
Pcsk1 G C 13: 75,258,947 (GRCm39) M240I probably damaging Het
Pdc T A 1: 150,208,892 (GRCm39) I125N probably damaging Het
Plch2 C T 4: 155,082,729 (GRCm39) G564S probably benign Het
Riok1 T A 13: 38,236,926 (GRCm39) I389N probably damaging Het
Ror1 T A 4: 100,160,135 (GRCm39) S50R probably benign Het
Samd13 T C 3: 146,352,070 (GRCm39) T75A probably benign Het
Siglec1 G A 2: 130,915,876 (GRCm39) H1329Y possibly damaging Het
Siglec1 T C 2: 130,925,932 (GRCm39) N258S probably damaging Het
Slbp G A 5: 33,802,946 (GRCm39) A126V probably benign Het
Slc12a4 A T 8: 106,674,203 (GRCm39) probably null Het
Specc1 A G 11: 62,019,218 (GRCm39) I686V possibly damaging Het
Synpo2 C A 3: 122,906,203 (GRCm39) V1038F probably damaging Het
Tbk1 G A 10: 121,397,550 (GRCm39) T374I probably benign Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tmem190 T C 7: 4,787,132 (GRCm39) L112P probably damaging Het
Tsc2 C T 17: 24,816,042 (GRCm39) R1715Q probably damaging Het
Ulbp3 A T 10: 3,075,050 (GRCm39) noncoding transcript Het
Vmn1r46 T C 6: 89,953,811 (GRCm39) L220P probably damaging Het
Vwa3a A G 7: 120,392,609 (GRCm39) Q816R probably benign Het
Zfhx4 T C 3: 5,468,164 (GRCm39) I2799T probably benign Het
Zfp105 T C 9: 122,759,696 (GRCm39) S456P 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
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'- CCATACAGCGATGTTCCAGATCCC -3'
(R):5'- CCCTTCCGCTTACCTGTTCAGAAAG -3'

Sequencing Primer
(F):5'- GGCCTGCCCTATACATATCAG -3'
(R):5'- CCTGTTCAGAAAGATACTGCTGAC -3'
Posted On 2014-05-14