Incidental Mutation 'R6157:Rasgrp2'
ID 489668
Institutional Source Beutler Lab
Gene Symbol Rasgrp2
Ensembl Gene ENSMUSG00000032946
Gene Name RAS, guanyl releasing protein 2
Synonyms Caldaggef1, CalDAG-GEFI
MMRRC Submission 044304-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6157 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 6449370-6465246 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 6452531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 35 (L35I)
Ref Sequence ENSEMBL: ENSMUSP00000109096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035269] [ENSMUST00000035716] [ENSMUST00000113467] [ENSMUST00000113468] [ENSMUST00000113469] [ENSMUST00000113471] [ENSMUST00000139522] [ENSMUST00000138555] [ENSMUST00000113472] [ENSMUST00000113475] [ENSMUST00000113476] [ENSMUST00000127021] [ENSMUST00000113483] [ENSMUST00000167240] [ENSMUST00000146601] [ENSMUST00000150713] [ENSMUST00000146831]
AlphaFold Q9QUG9
Predicted Effect probably benign
Transcript: ENSMUST00000035269
SMART Domains Protein: ENSMUSP00000047564
Gene: ENSMUSG00000032648

DomainStartEndE-ValueType
Pfam:Phosphorylase 113 829 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000035716
AA Change: L35I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041135
Gene: ENSMUSG00000032946
AA Change: L35I

DomainStartEndE-ValueType
RasGEFN 3 126 3.56e-29 SMART
RasGEF 150 388 1.08e-100 SMART
EFh 430 458 8.25e-3 SMART
EFh 459 487 1.42e1 SMART
C1 499 548 3.22e-14 SMART
low complexity region 575 595 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113467
SMART Domains Protein: ENSMUSP00000109095
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
Blast:RasGEFN 3 24 9e-8 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000113468
AA Change: L35I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109096
Gene: ENSMUSG00000032946
AA Change: L35I

DomainStartEndE-ValueType
RasGEFN 3 97 1.93e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113469
SMART Domains Protein: ENSMUSP00000109097
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
Blast:RasGEFN 3 24 1e-7 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000113471
AA Change: L35I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109099
Gene: ENSMUSG00000032946
AA Change: L35I

DomainStartEndE-ValueType
RasGEFN 3 126 7.2e-31 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000139522
AA Change: L35I

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123036
Gene: ENSMUSG00000032946
AA Change: L35I

DomainStartEndE-ValueType
RasGEFN 3 125 6.02e-27 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000138555
AA Change: L35I

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121635
Gene: ENSMUSG00000032946
AA Change: L35I

DomainStartEndE-ValueType
RasGEFN 3 126 3.56e-29 SMART
Pfam:RasGEF 151 231 1.6e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113472
AA Change: L35I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109100
Gene: ENSMUSG00000032946
AA Change: L35I

DomainStartEndE-ValueType
RasGEFN 3 126 7.2e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113475
AA Change: L35I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109103
Gene: ENSMUSG00000032946
AA Change: L35I

DomainStartEndE-ValueType
RasGEFN 3 126 7.2e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113476
AA Change: L35I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109104
Gene: ENSMUSG00000032946
AA Change: L35I

DomainStartEndE-ValueType
RasGEFN 3 126 3.56e-29 SMART
RasGEF 150 388 1.08e-100 SMART
EFh 430 458 8.25e-3 SMART
EFh 459 487 1.42e1 SMART
C1 499 548 3.22e-14 SMART
low complexity region 575 595 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130480
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123661
Predicted Effect probably benign
Transcript: ENSMUST00000127021
SMART Domains Protein: ENSMUSP00000119740
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
Blast:RasGEFN 3 24 1e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000113483
SMART Domains Protein: ENSMUSP00000109111
Gene: ENSMUSG00000032648

DomainStartEndE-ValueType
Pfam:Phosphorylase 62 742 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167240
AA Change: L35I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129873
Gene: ENSMUSG00000032946
AA Change: L35I

DomainStartEndE-ValueType
RasGEFN 3 126 3.56e-29 SMART
RasGEF 150 388 1.08e-100 SMART
EFh 430 458 8.25e-3 SMART
EFh 459 487 1.42e1 SMART
C1 499 548 3.22e-14 SMART
low complexity region 575 595 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000146601
AA Change: L35I

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117681
Gene: ENSMUSG00000032946
AA Change: L35I

DomainStartEndE-ValueType
Blast:RasGEFN 3 58 1e-35 BLAST
SCOP:d1bkds_ 9 58 1e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000150713
AA Change: L35I

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120949
Gene: ENSMUSG00000032946
AA Change: L35I

DomainStartEndE-ValueType
RasGEFN 3 95 6.73e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000146831
AA Change: L35I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120630
Gene: ENSMUSG00000032946
AA Change: L35I

DomainStartEndE-ValueType
RasGEFN 3 126 3.56e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139775
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148906
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 93.1%
Validation Efficiency 93% (40/43)
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 brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Four alternatively spliced transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele do not undergo spontaneous hemorrhaging but exhibit impaired platelet aggregation, resistance to collagen-induced thrombosis, and increased bleeding times after tail transection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,947,617 (GRCm39) K505E possibly damaging Het
Abcb1b A T 5: 8,874,245 (GRCm39) N390I possibly damaging Het
Apob A T 12: 8,056,077 (GRCm39) M1520L probably benign Het
Atg4c C T 4: 99,123,400 (GRCm39) R396* probably null Het
Atp2a3 G A 11: 72,871,442 (GRCm39) V648M probably damaging Het
Blm T C 7: 80,162,733 (GRCm39) D203G probably benign Het
Csrnp3 A T 2: 65,779,363 (GRCm39) D13V probably damaging Het
Dnajc10 A T 2: 80,147,735 (GRCm39) probably benign Het
Dst A G 1: 34,250,253 (GRCm39) Y1729C probably damaging Het
Dynlt2b G A 16: 32,238,660 (GRCm39) A12T possibly damaging Het
Ecsit T C 9: 21,985,987 (GRCm39) Y213C probably damaging Het
Fer A G 17: 64,385,880 (GRCm39) K654R probably damaging Het
Hdac9 G T 12: 34,439,428 (GRCm39) A383E probably damaging Het
Hltf T A 3: 20,130,660 (GRCm39) S293T probably benign Het
Hydin T A 8: 111,254,648 (GRCm39) D2359E probably benign Het
Inf2 A G 12: 112,571,222 (GRCm39) probably benign Het
Kcns2 A G 15: 34,839,504 (GRCm39) N289S possibly damaging Het
Meioc T C 11: 102,559,227 (GRCm39) S50P probably damaging Het
Mocs1 G T 17: 49,761,764 (GRCm39) E619D probably benign Het
Nfatc2 A G 2: 168,361,371 (GRCm39) probably benign Het
Or51i1 T A 7: 103,671,105 (GRCm39) N140I possibly damaging Het
Pag1 A T 3: 9,758,896 (GRCm39) H407Q probably benign Het
Plaat1 A G 16: 29,036,501 (GRCm39) I46M possibly damaging Het
Plcb3 G A 19: 6,943,533 (GRCm39) A122V probably damaging Het
Pld4 C T 12: 112,734,535 (GRCm39) T432I probably damaging Het
Psd3 T G 8: 68,574,179 (GRCm39) M1L probably benign Het
Ripor2 T C 13: 24,885,052 (GRCm39) L390P probably damaging Het
Rpgrip1 A T 14: 52,349,631 (GRCm39) E6D probably benign Het
Ryr3 A T 2: 112,672,244 (GRCm39) L1409Q probably damaging Het
Slc6a5 A G 7: 49,601,250 (GRCm39) T684A probably benign Het
Smpd4 G T 16: 17,458,930 (GRCm39) probably null Het
Snx18 T C 13: 113,753,725 (GRCm39) S403G probably damaging Het
Spsb4 G T 9: 96,878,160 (GRCm39) H54Q probably damaging Het
Ssrp1 A G 2: 84,871,072 (GRCm39) Y236C probably damaging Het
Tenm3 C T 8: 48,751,843 (GRCm39) S982N probably damaging Het
Tet1 A G 10: 62,675,749 (GRCm39) S776P probably damaging Het
Tln1 G A 4: 43,534,744 (GRCm39) P2166S probably benign Het
Ufl1 T A 4: 25,279,350 (GRCm39) Q83L possibly damaging Het
Unc80 A T 1: 66,693,188 (GRCm39) K2458* probably null Het
Ush2a A T 1: 188,460,467 (GRCm39) Y2576F probably benign Het
Xrcc6 C A 15: 81,913,305 (GRCm39) probably null Het
Zbtb48 A G 4: 152,106,064 (GRCm39) F380L probably damaging Het
Zfp534 C T 4: 147,758,947 (GRCm39) R574K probably benign Het
Other mutations in Rasgrp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01013:Rasgrp2 APN 19 6,454,413 (GRCm39) missense probably damaging 1.00
IGL03053:Rasgrp2 APN 19 6,457,362 (GRCm39) splice site probably benign
afar UTSW 19 6,453,595 (GRCm39) critical splice donor site probably null
thither UTSW 19 6,454,757 (GRCm39) missense probably damaging 1.00
R1593:Rasgrp2 UTSW 19 6,453,490 (GRCm39) missense possibly damaging 0.77
R1604:Rasgrp2 UTSW 19 6,457,087 (GRCm39) missense possibly damaging 0.62
R2016:Rasgrp2 UTSW 19 6,463,195 (GRCm39) missense probably benign 0.01
R2017:Rasgrp2 UTSW 19 6,463,195 (GRCm39) missense probably benign 0.01
R2119:Rasgrp2 UTSW 19 6,454,425 (GRCm39) missense probably benign 0.00
R2120:Rasgrp2 UTSW 19 6,454,425 (GRCm39) missense probably benign 0.00
R2122:Rasgrp2 UTSW 19 6,454,425 (GRCm39) missense probably benign 0.00
R2124:Rasgrp2 UTSW 19 6,454,425 (GRCm39) missense probably benign 0.00
R3879:Rasgrp2 UTSW 19 6,463,920 (GRCm39) missense probably benign 0.07
R4049:Rasgrp2 UTSW 19 6,454,757 (GRCm39) missense probably damaging 1.00
R4655:Rasgrp2 UTSW 19 6,454,876 (GRCm39) intron probably benign
R5250:Rasgrp2 UTSW 19 6,454,343 (GRCm39) missense probably damaging 1.00
R5320:Rasgrp2 UTSW 19 6,458,864 (GRCm39) splice site probably null
R5620:Rasgrp2 UTSW 19 6,455,031 (GRCm39) missense probably damaging 1.00
R5933:Rasgrp2 UTSW 19 6,452,543 (GRCm39) missense probably damaging 1.00
R6155:Rasgrp2 UTSW 19 6,452,531 (GRCm39) missense probably damaging 1.00
R6867:Rasgrp2 UTSW 19 6,463,213 (GRCm39) missense probably benign 0.00
R7237:Rasgrp2 UTSW 19 6,454,838 (GRCm39) missense possibly damaging 0.79
R7575:Rasgrp2 UTSW 19 6,454,397 (GRCm39) missense probably damaging 0.99
R7659:Rasgrp2 UTSW 19 6,451,857 (GRCm39) missense probably damaging 0.98
R7744:Rasgrp2 UTSW 19 6,455,031 (GRCm39) missense probably damaging 1.00
R7960:Rasgrp2 UTSW 19 6,464,839 (GRCm39) missense probably benign
R7975:Rasgrp2 UTSW 19 6,458,589 (GRCm39) missense probably damaging 1.00
R8415:Rasgrp2 UTSW 19 6,454,781 (GRCm39) missense probably damaging 1.00
R8470:Rasgrp2 UTSW 19 6,453,595 (GRCm39) critical splice donor site probably null
R8745:Rasgrp2 UTSW 19 6,463,949 (GRCm39) missense probably damaging 1.00
R8853:Rasgrp2 UTSW 19 6,464,855 (GRCm39) missense probably damaging 0.98
R8897:Rasgrp2 UTSW 19 6,453,100 (GRCm39) missense probably benign 0.15
R9108:Rasgrp2 UTSW 19 6,458,890 (GRCm39) missense probably damaging 1.00
R9127:Rasgrp2 UTSW 19 6,454,438 (GRCm39) missense possibly damaging 0.91
R9725:Rasgrp2 UTSW 19 6,463,907 (GRCm39) missense probably benign 0.07
R9725:Rasgrp2 UTSW 19 6,454,694 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-10-10