Incidental Mutation 'R6155:Rasgrp2'
ID 489554
Institutional Source Beutler Lab
Gene Symbol Rasgrp2
Ensembl Gene ENSMUSG00000032946
Gene Name RAS, guanyl releasing protein 2
Synonyms Caldaggef1, CalDAG-GEFI
MMRRC Submission 044302-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6155 (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: 99.6%
  • 10x: 97.9%
  • 20x: 94.1%
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 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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T C 5: 105,111,510 (GRCm39) Y319C probably benign Het
Actn4 A C 7: 28,595,566 (GRCm39) I763S probably damaging Het
Actr8 G A 14: 29,700,546 (GRCm39) probably null Het
Adrb1 T C 19: 56,711,336 (GRCm39) L178P probably damaging Het
Afap1 A G 5: 36,092,953 (GRCm39) Y19C unknown Het
Ankrd36 A G 11: 5,637,442 (GRCm39) E1337G probably benign Het
Arl4a A C 12: 40,086,519 (GRCm39) V76G probably damaging Het
Bmp1 A T 14: 70,745,447 (GRCm39) I246K probably damaging Het
Camk4 A T 18: 33,072,500 (GRCm39) T18S unknown Het
Cep152 T C 2: 125,423,620 (GRCm39) H927R probably benign Het
Clca3a2 A G 3: 144,525,118 (GRCm39) I38T probably damaging Het
Clec2g A C 6: 128,957,236 (GRCm39) T54P probably damaging Het
Cox20 A G 1: 178,149,362 (GRCm39) E31G possibly damaging Het
Crispld1 T A 1: 17,823,241 (GRCm39) H407Q probably benign Het
Csmd1 T C 8: 15,953,231 (GRCm39) I3417V probably benign Het
Dhtkd1 A C 2: 5,915,170 (GRCm39) H700Q probably null Het
Dnah10 G A 5: 124,847,663 (GRCm39) V1516M probably damaging Het
Dnah10 A G 5: 124,862,239 (GRCm39) T2165A probably damaging Het
Dock2 C G 11: 34,244,123 (GRCm39) M1072I probably benign Het
F11 T A 8: 45,705,119 (GRCm39) T141S probably damaging Het
Gabra6 T A 11: 42,207,350 (GRCm39) I245F probably damaging Het
H2-T5 G A 17: 36,478,399 (GRCm39) A211V possibly damaging Het
Herc1 T A 9: 66,340,705 (GRCm39) C1685S possibly damaging Het
Iftap A T 2: 101,406,355 (GRCm39) probably null Het
Il20 G T 1: 130,838,477 (GRCm39) D73E probably damaging Het
Ireb2 C A 9: 54,793,811 (GRCm39) P247Q probably damaging Het
Kcng3 T C 17: 83,895,807 (GRCm39) I220V probably benign Het
Lce1j T G 3: 92,696,379 (GRCm39) Q133P unknown Het
Lgals9 C T 11: 78,854,331 (GRCm39) A287T probably benign Het
Lrrc52 A G 1: 167,294,296 (GRCm39) probably benign Het
Map3k5 A T 10: 19,994,187 (GRCm39) H1027L probably benign Het
Morc3 A G 16: 93,659,313 (GRCm39) D407G possibly damaging Het
Myom1 T C 17: 71,415,690 (GRCm39) probably null Het
Ncapg2 T C 12: 116,401,631 (GRCm39) F673S possibly damaging Het
Ncoa6 T C 2: 155,249,368 (GRCm39) D1312G probably damaging Het
Nkx1-1 A T 5: 33,588,395 (GRCm39) F298I probably damaging Het
Npas2 G A 1: 39,326,557 (GRCm39) R14Q probably damaging Het
Npas4 C T 19: 5,036,898 (GRCm39) C422Y probably damaging Het
Or11h4 T C 14: 50,974,076 (GRCm39) D181G probably benign Het
Or2y11 T A 11: 49,443,411 (GRCm39) I279N possibly damaging Het
Or4c123 A G 2: 89,126,765 (GRCm39) L283S probably damaging Het
Or5p4 T C 7: 107,680,493 (GRCm39) V164A probably benign Het
Pcdhga4 T C 18: 37,819,546 (GRCm39) I365T probably damaging Het
Pear1 T A 3: 87,666,875 (GRCm39) T37S probably damaging Het
Pkn2 A T 3: 142,559,454 (GRCm39) F24I probably benign Het
Plcb3 G A 19: 6,943,533 (GRCm39) A122V probably damaging Het
Pnliprp1 T C 19: 58,718,565 (GRCm39) probably null Het
Pramel28 T A 4: 143,691,712 (GRCm39) H337L probably benign Het
Psmb3 T A 11: 97,603,278 (GRCm39) F164I probably damaging Het
Ptch2 T A 4: 116,954,105 (GRCm39) F45Y probably damaging Het
Ptpn23 C A 9: 110,216,849 (GRCm39) probably benign Het
Pusl1 A G 4: 155,975,005 (GRCm39) S199P probably damaging Het
Rictor T C 15: 6,823,458 (GRCm39) L1545P probably benign Het
Rtn4r A T 16: 17,969,258 (GRCm39) M229L probably benign Het
Ruvbl1 A T 6: 88,456,107 (GRCm39) probably null Het
Slc35b3 A T 13: 39,128,572 (GRCm39) S30T probably damaging Het
Sorcs3 T C 19: 48,387,136 (GRCm39) V207A possibly damaging Het
Sox13 A G 1: 133,321,005 (GRCm39) S2P probably damaging Het
Sptbn1 A C 11: 30,087,403 (GRCm39) L999R probably damaging Het
Taf4 A G 2: 179,555,317 (GRCm39) V1015A probably damaging Het
Top3b T C 16: 16,709,373 (GRCm39) L687P probably damaging Het
Tpp2 T A 1: 43,995,649 (GRCm39) V268E probably damaging Het
Ttc6 T C 12: 57,784,402 (GRCm39) Y1824H possibly damaging Het
Txk A G 5: 72,858,069 (GRCm39) Y360H probably damaging Het
Vmn2r57 T C 7: 41,078,114 (GRCm39) I115V probably benign Het
Vmn2r98 T C 17: 19,286,143 (GRCm39) S214P possibly damaging Het
Zbtb48 T C 4: 152,106,495 (GRCm39) probably null Het
Zzz3 A G 3: 152,133,319 (GRCm39) I126V possibly damaging 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
R6157: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