Incidental Mutation 'R2120:Rasgrp2'
ID 231421
Institutional Source Beutler Lab
Gene Symbol Rasgrp2
Ensembl Gene ENSMUSG00000032946
Gene Name RAS, guanyl releasing protein 2
Synonyms Caldaggef1, CalDAG-GEFI
MMRRC Submission 040124-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2120 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 6449370-6465246 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6454425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 156 (M156K)
Ref Sequence ENSEMBL: ENSMUSP00000129873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035716] [ENSMUST00000113467] [ENSMUST00000113468] [ENSMUST00000113469] [ENSMUST00000113471] [ENSMUST00000113472] [ENSMUST00000113475] [ENSMUST00000113476] [ENSMUST00000138555] [ENSMUST00000146831] [ENSMUST00000127021] [ENSMUST00000139522] [ENSMUST00000146601] [ENSMUST00000167240] [ENSMUST00000150713]
AlphaFold Q9QUG9
Predicted Effect probably benign
Transcript: ENSMUST00000035716
AA Change: M156K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000041135
Gene: ENSMUSG00000032946
AA Change: M156K

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 benign
Transcript: ENSMUST00000113468
SMART Domains Protein: ENSMUSP00000109096
Gene: ENSMUSG00000032946

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 benign
Transcript: ENSMUST00000113471
SMART Domains Protein: ENSMUSP00000109099
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
RasGEFN 3 126 7.2e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113472
SMART Domains Protein: ENSMUSP00000109100
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
RasGEFN 3 126 7.2e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113475
SMART Domains Protein: ENSMUSP00000109103
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
RasGEFN 3 126 7.2e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130480
Predicted Effect probably benign
Transcript: ENSMUST00000113476
AA Change: M156K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000109104
Gene: ENSMUSG00000032946
AA Change: M156K

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: ENSMUST00000138555
AA Change: M156K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000121635
Gene: ENSMUSG00000032946
AA Change: M156K

DomainStartEndE-ValueType
RasGEFN 3 126 3.56e-29 SMART
Pfam:RasGEF 151 231 1.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146831
AA Change: M156K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000120630
Gene: ENSMUSG00000032946
AA Change: M156K

DomainStartEndE-ValueType
RasGEFN 3 126 3.56e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123661
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148906
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145611
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: ENSMUST00000139522
SMART Domains Protein: ENSMUSP00000123036
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
RasGEFN 3 125 6.02e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146601
SMART Domains Protein: ENSMUSP00000117681
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
Blast:RasGEFN 3 58 1e-35 BLAST
SCOP:d1bkds_ 9 58 1e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167240
AA Change: M156K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000129873
Gene: ENSMUSG00000032946
AA Change: M156K

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: ENSMUST00000152022
Predicted Effect probably benign
Transcript: ENSMUST00000150713
SMART Domains Protein: ENSMUSP00000120949
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
RasGEFN 3 95 6.73e-7 SMART
Meta Mutation Damage Score 0.0773 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (86/86)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,259,013 (GRCm39) probably benign Het
Abcg5 T A 17: 84,978,575 (GRCm39) E294D probably benign Het
Actrt2 C T 4: 154,751,551 (GRCm39) R195Q probably benign Het
Adamts12 C T 15: 11,310,665 (GRCm39) T974I probably damaging Het
Ankrd65 A G 4: 155,876,530 (GRCm39) T239A probably benign Het
Ano7 G T 1: 93,329,855 (GRCm39) probably benign Het
Apc A T 18: 34,409,654 (GRCm39) E198V probably damaging Het
Arhgef10 A G 8: 14,984,820 (GRCm39) D200G probably damaging Het
Atp9a A T 2: 168,495,457 (GRCm39) V583E probably damaging Het
Bicral C T 17: 47,135,741 (GRCm39) A490T probably benign Het
C1rl C T 6: 124,485,672 (GRCm39) P348S probably damaging Het
Cog1 T C 11: 113,540,424 (GRCm39) L13P probably damaging Het
Cx3cr1 T A 9: 119,880,749 (GRCm39) T218S probably damaging Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
E2f4 A G 8: 106,026,973 (GRCm39) Y179C probably damaging Het
Ecel1 A G 1: 87,075,997 (GRCm39) S727P probably damaging Het
Endod1 T C 9: 14,268,949 (GRCm39) N179D probably benign Het
Epc2 C T 2: 49,437,621 (GRCm39) probably benign Het
Ets2 G T 16: 95,519,977 (GRCm39) R401L probably benign Het
Fgd4 C T 16: 16,243,692 (GRCm39) C614Y probably benign Het
Fgf18 A C 11: 33,068,003 (GRCm39) F129C probably damaging Het
Frem3 A T 8: 81,342,086 (GRCm39) T1460S probably benign Het
H2-M1 T G 17: 36,980,929 (GRCm39) T336P possibly damaging Het
Ikbkb T C 8: 23,157,233 (GRCm39) probably benign Het
Ipo7 G T 7: 109,648,838 (GRCm39) D704Y probably damaging Het
Jaml T A 9: 45,012,362 (GRCm39) I283N probably damaging Het
Jarid2 G T 13: 45,059,812 (GRCm39) M681I probably benign Het
Kif4-ps T C 12: 101,113,956 (GRCm39) L695P probably damaging Het
Kmt2d A G 15: 98,737,410 (GRCm39) probably benign Het
Krt25 T C 11: 99,212,023 (GRCm39) T205A probably benign Het
Lif T C 11: 4,219,051 (GRCm39) V110A possibly damaging Het
Ltbp1 T A 17: 75,617,154 (GRCm39) V1031E possibly damaging Het
Ltbr A G 6: 125,286,440 (GRCm39) S249P probably benign Het
Man2b1 A G 8: 85,819,653 (GRCm39) probably benign Het
Med16 A T 10: 79,738,916 (GRCm39) M290K possibly damaging Het
Mov10l1 C A 15: 88,891,830 (GRCm39) Q562K probably benign Het
Msantd2 C T 9: 37,434,227 (GRCm39) R357W probably damaging Het
Mtcl2 T C 2: 156,875,245 (GRCm39) E835G probably damaging Het
Mtmr6 T C 14: 60,534,108 (GRCm39) F449L probably damaging Het
Myt1l A T 12: 29,833,618 (GRCm39) probably null Het
Neb A G 2: 52,154,076 (GRCm39) F2345S probably damaging Het
Nlrp6 T C 7: 140,506,357 (GRCm39) V766A probably benign Het
Or11g27 T C 14: 50,771,403 (GRCm39) I178T probably damaging Het
Or4k36 A G 2: 111,145,844 (GRCm39) T7A probably benign Het
Or6d13 A T 6: 116,517,416 (GRCm39) M1L probably null Het
Or8k22 G A 2: 86,163,689 (GRCm39) R4C probably benign Het
Patj T A 4: 98,344,462 (GRCm39) D591E probably benign Het
Pde6d A G 1: 86,473,524 (GRCm39) F91L probably benign Het
Pitpnm2 G A 5: 124,265,332 (GRCm39) P757L probably damaging Het
Plcd4 A G 1: 74,603,584 (GRCm39) T662A probably benign Het
Podn C T 4: 107,880,558 (GRCm39) A31T probably damaging Het
Prss37 G A 6: 40,492,294 (GRCm39) R186* probably null Het
Psg20 T A 7: 18,414,947 (GRCm39) Y316F probably benign Het
Psmd1 T A 1: 86,006,422 (GRCm39) S263T possibly damaging Het
Pum1 C A 4: 130,396,581 (GRCm39) T112K possibly damaging Het
Rab3gap2 A T 1: 184,993,564 (GRCm39) D782V possibly damaging Het
Reln G A 5: 22,174,083 (GRCm39) H2007Y probably damaging Het
Rhbdl2 T A 4: 123,718,712 (GRCm39) I222K probably damaging Het
Rimbp2 A G 5: 128,865,582 (GRCm39) S582P probably damaging Het
Rpe T C 1: 66,754,387 (GRCm39) M153T probably damaging Het
Sars1 T C 3: 108,341,472 (GRCm39) I114V probably benign Het
Scamp5 C A 9: 57,354,508 (GRCm39) V49F possibly damaging Het
Sec14l1 C T 11: 117,039,358 (GRCm39) probably benign Het
Serpinb8 A G 1: 107,533,617 (GRCm39) E224G probably damaging Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Slco6c1 C T 1: 96,993,808 (GRCm39) R645H possibly damaging Het
Srgn T A 10: 62,343,413 (GRCm39) probably benign Het
Stk40 C T 4: 126,022,640 (GRCm39) T138I probably benign Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Tada3 T C 6: 113,347,976 (GRCm39) I263V possibly damaging Het
Tas2r106 A T 6: 131,655,317 (GRCm39) L178H probably damaging Het
Tas2r115 T A 6: 132,714,470 (GRCm39) R160S possibly damaging Het
Trak1 T A 9: 121,302,063 (GRCm39) *940R probably null Het
Trp53bp2 A G 1: 182,269,204 (GRCm39) M223V probably benign Het
Ttc21b C T 2: 66,057,098 (GRCm39) V625I probably benign Het
Txnrd1 T A 10: 82,723,067 (GRCm39) C421S possibly damaging Het
Unc45a T C 7: 79,989,846 (GRCm39) T8A probably benign Het
Usp6nl T A 2: 6,445,748 (GRCm39) V552E probably damaging Het
Vmn2r115 T G 17: 23,578,297 (GRCm39) L590R probably damaging Het
Vmn2r88 A T 14: 51,650,665 (GRCm39) H126L probably benign Het
Vps13c A G 9: 67,826,616 (GRCm39) D1419G possibly damaging Het
Vwa3a A G 7: 120,391,641 (GRCm39) T776A probably benign Het
Zfp580 T C 7: 5,056,008 (GRCm39) Y123H probably 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
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
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 PCR Primer
(F):5'- TACTGCTTAGGATGGTGGCTCC -3'
(R):5'- TTTGATGAAACCGCCCAACC -3'

Sequencing Primer
(F):5'- CTCAAGTCAGTTTGAGTGGCATGTC -3'
(R):5'- ACACCAGGATCTTGCAGA -3'
Posted On 2014-09-18