Incidental Mutation 'R5602:Rasgrf1'
ID 439086
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 043154-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5602 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 89791961-89909030 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89793624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 134 (S134P)
Ref Sequence ENSEMBL: ENSMUSP00000140921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034909] [ENSMUST00000034912] [ENSMUST00000189545]
AlphaFold P27671
Predicted Effect possibly damaging
Transcript: ENSMUST00000034909
AA Change: S134P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000034909
Gene: ENSMUSG00000032356
AA Change: S134P

DomainStartEndE-ValueType
PH 23 143 1e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000034912
SMART Domains Protein: ENSMUSP00000034912
Gene: ENSMUSG00000032356

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000189545
AA Change: S134P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140921
Gene: ENSMUSG00000032356
AA Change: S134P

DomainStartEndE-ValueType
PH 23 143 3.1e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190073
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik G A 2: 151,315,459 (GRCm39) S73F possibly damaging Het
4932414N04Rik A T 2: 68,578,712 (GRCm39) *753L probably null Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adam19 T C 11: 46,027,142 (GRCm39) S592P probably benign Het
Adamtsl3 A G 7: 82,206,447 (GRCm39) K843R possibly damaging Het
Ap2a2 A T 7: 141,184,855 (GRCm39) T213S probably benign Het
Asb5 A G 8: 55,038,974 (GRCm39) E280G probably benign Het
Becn1 T C 11: 101,179,778 (GRCm39) D403G probably damaging Het
Ccr7 G T 11: 99,036,315 (GRCm39) N202K probably benign Het
Cd36 T C 5: 18,019,790 (GRCm39) T104A possibly damaging Het
Cnot4 C T 6: 35,028,464 (GRCm39) W384* probably null Het
Col15a1 G A 4: 47,312,087 (GRCm39) V1301M probably damaging Het
Dock2 C A 11: 34,204,391 (GRCm39) A1384S probably benign Het
Ehbp1l1 T C 19: 5,758,698 (GRCm39) E1648G possibly damaging Het
Fbn1 G T 2: 125,163,661 (GRCm39) A2065E possibly damaging Het
Fras1 A G 5: 96,884,880 (GRCm39) Y2586C probably damaging Het
Galm T A 17: 80,457,568 (GRCm39) Y28* probably null Het
Ggt7 A G 2: 155,332,919 (GRCm39) V648A possibly damaging Het
Gm17067 T A 7: 42,357,839 (GRCm39) D221V probably damaging Het
Gpr3 T C 4: 132,937,805 (GRCm39) N289S probably damaging Het
Ighv11-2 A G 12: 114,012,277 (GRCm39) probably benign Het
Ighv11-2 G A 12: 114,012,099 (GRCm39) L39F probably damaging Het
Ipo9 G A 1: 135,329,983 (GRCm39) L486F probably damaging Het
Jak2 T A 19: 29,275,739 (GRCm39) N726K probably benign Het
Map4 T C 9: 109,881,768 (GRCm39) S211P possibly damaging Het
Mlh1 A T 9: 111,081,946 (GRCm39) L259Q probably damaging Het
Naa25 A G 5: 121,558,558 (GRCm39) E300G probably benign Het
Or8g34 A T 9: 39,373,326 (GRCm39) M200L probably benign Het
Or8g54 T A 9: 39,707,490 (GRCm39) V273E possibly damaging Het
Parva G A 7: 112,166,972 (GRCm39) V182I probably benign Het
Pcdhgb4 T C 18: 37,854,697 (GRCm39) I364T probably damaging Het
Pdik1l A G 4: 134,011,580 (GRCm39) S164P probably damaging Het
Pfas A T 11: 68,881,871 (GRCm39) I938N probably benign Het
Plscr1l1 G A 9: 92,234,721 (GRCm39) C152Y possibly damaging Het
Prdm4 TCTCCTCCT TCTCCT 10: 85,728,987 (GRCm39) probably null Het
Prob1 C T 18: 35,787,079 (GRCm39) V392M possibly damaging Het
Rorb T A 19: 18,955,301 (GRCm39) Y20F probably damaging Het
Rsph9 G T 17: 46,445,909 (GRCm39) D220E probably damaging Het
Safb2 C A 17: 56,882,630 (GRCm39) K334N possibly damaging Het
Sall3 T C 18: 81,016,027 (GRCm39) T634A probably benign Het
Scaf1 A G 7: 44,657,007 (GRCm39) probably benign Het
Slco1a5 T A 6: 142,221,255 (GRCm39) probably benign Het
Spata21 C T 4: 140,824,210 (GRCm39) R158C probably benign Het
Srrm2 G A 17: 24,038,311 (GRCm39) probably benign Het
Stk38l C A 6: 146,659,998 (GRCm39) T10N probably benign Het
Supv3l1 G A 10: 62,266,371 (GRCm39) P602S possibly damaging Het
Timm44 C T 8: 4,316,769 (GRCm39) probably null Het
Tll2 T A 19: 41,093,420 (GRCm39) R465S possibly damaging Het
Tmem104 G A 11: 115,095,950 (GRCm39) A164T probably damaging Het
Tmem151b A G 17: 45,856,526 (GRCm39) S305P probably damaging Het
Utrn T C 10: 12,625,839 (GRCm39) D114G probably damaging Het
Vmn2r109 A T 17: 20,760,933 (GRCm39) M808K possibly damaging Het
Washc2 T A 6: 116,225,056 (GRCm39) D801E possibly damaging Het
Xkr4 T C 1: 3,286,751 (GRCm39) I480V probably benign Het
Zfp507 G T 7: 35,475,663 (GRCm39) S58* probably null Het
Zfp768 T A 7: 126,943,804 (GRCm39) D108V 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
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'- AGGTATCTGGTCCCCTGACTTC -3'
(R):5'- TGCTGTTCCTTGCCATCAGG -3'

Sequencing Primer
(F):5'- CTATTTGCCCGGATGGAGAC -3'
(R):5'- TTGCCATCAGGGAGCCTCTG -3'
Posted On 2016-10-26