Incidental Mutation 'IGL03053:Rasgrp2'
ID409159
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rasgrp2
Ensembl Gene ENSMUSG00000032946
Gene NameRAS, guanyl releasing protein 2
SynonymsCaldaggef1, CalDAG-GEFI
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03053
Quality Score
Status
Chromosome19
Chromosomal Location6399340-6415216 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 6407332 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035716] [ENSMUST00000113467] [ENSMUST00000113468] [ENSMUST00000113469] [ENSMUST00000113471] [ENSMUST00000113472] [ENSMUST00000113475] [ENSMUST00000113476] [ENSMUST00000127021] [ENSMUST00000167240] [ENSMUST00000150713] [ENSMUST00000146601] [ENSMUST00000146831] [ENSMUST00000138555] [ENSMUST00000139522]
Predicted Effect probably benign
Transcript: ENSMUST00000035716
SMART Domains Protein: ENSMUSP00000041135
Gene: ENSMUSG00000032946

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 probably benign
Transcript: ENSMUST00000113476
SMART Domains Protein: ENSMUSP00000109104
Gene: ENSMUSG00000032946

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: ENSMUST00000122930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123661
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124118
Predicted Effect probably benign
Transcript: ENSMUST00000127021
SMART Domains Protein: ENSMUSP00000119740
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
Blast:RasGEFN 3 24 1e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130480
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135532
Predicted Effect probably benign
Transcript: ENSMUST00000167240
SMART Domains Protein: ENSMUSP00000129873
Gene: ENSMUSG00000032946

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 noncoding transcript
Transcript: ENSMUST00000149205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148906
Predicted Effect probably benign
Transcript: ENSMUST00000150713
SMART Domains Protein: ENSMUSP00000120949
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
RasGEFN 3 95 6.73e-7 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: ENSMUST00000146831
SMART Domains Protein: ENSMUSP00000120630
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
RasGEFN 3 126 3.56e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138555
SMART Domains Protein: ENSMUSP00000121635
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
RasGEFN 3 126 3.56e-29 SMART
Pfam:RasGEF 151 231 1.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139522
SMART Domains Protein: ENSMUSP00000123036
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
RasGEFN 3 125 6.02e-27 SMART
Coding Region Coverage
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 G A 4: 106,755,853 Q342* probably null Het
Arglu1 T A 8: 8,683,960 I119L probably benign Het
Atp1a2 G A 1: 172,278,356 T914I probably damaging Het
Birc6 C T 17: 74,565,972 R409C probably damaging Het
Brwd1 A T 16: 96,017,677 S1318R possibly damaging Het
C1qtnf12 A T 4: 155,966,464 N297Y probably damaging Het
Cbwd1 T A 19: 24,955,377 E97D probably damaging Het
Cyp2a4 A T 7: 26,313,550 probably benign Het
Cyp2j7 C T 4: 96,230,037 M106I probably benign Het
Dis3 A G 14: 99,098,734 V112A probably benign Het
Ehd3 A G 17: 73,805,442 Y67C probably damaging Het
Elavl4 A T 4: 110,251,494 S16T possibly damaging Het
F2rl1 A C 13: 95,513,618 V252G probably benign Het
Fggy A T 4: 95,926,809 probably benign Het
Hc G T 2: 35,024,198 N832K probably benign Het
Hnf1a T A 5: 114,970,733 M38L probably benign Het
Kif13a T C 13: 46,752,088 N793S probably benign Het
Kit A G 5: 75,610,914 N244D probably benign Het
Mb21d1 A T 9: 78,437,437 F234Y probably benign Het
Mgat5b A G 11: 116,923,450 E60G possibly damaging Het
Obsl1 T C 1: 75,493,079 H1098R probably benign Het
Olfr1094 A G 2: 86,829,263 I170M possibly damaging Het
Olfr1178 A G 2: 88,391,594 M116V probably damaging Het
Olfr1230 A C 2: 89,296,445 I275S probably damaging Het
Olfr138 A C 17: 38,274,791 S7R probably damaging Het
Olfr166 A T 16: 19,487,219 H127L probably benign Het
Olfr198 A G 16: 59,202,247 Y60H probably damaging Het
Olfr215 T C 6: 116,582,245 R234G possibly damaging Het
Pitpnm2 A G 5: 124,143,601 I42T probably damaging Het
Prkd2 A G 7: 16,850,263 D347G possibly damaging Het
Prkdc A G 16: 15,834,166 I3806V probably benign Het
Rc3h1 T A 1: 160,955,817 D734E probably benign Het
Rtel1 A G 2: 181,351,944 K619E probably benign Het
Tnfrsf26 T C 7: 143,614,860 D147G possibly damaging Het
Ufl1 A G 4: 25,275,833 I110T probably damaging Het
Ugt2b36 A G 5: 87,092,074 S151P possibly damaging Het
Vmn2r25 T C 6: 123,823,118 Y755C probably damaging Het
Zfhx3 T C 8: 108,946,500 V1394A probably damaging Het
Zzef1 G T 11: 72,831,539 probably benign Het
Other mutations in Rasgrp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01013:Rasgrp2 APN 19 6404383 missense probably damaging 1.00
thither UTSW 19 6404727 missense probably damaging 1.00
R1593:Rasgrp2 UTSW 19 6403460 missense possibly damaging 0.77
R1604:Rasgrp2 UTSW 19 6407057 missense possibly damaging 0.62
R2016:Rasgrp2 UTSW 19 6413165 missense probably benign 0.01
R2017:Rasgrp2 UTSW 19 6413165 missense probably benign 0.01
R2119:Rasgrp2 UTSW 19 6404395 missense probably benign 0.00
R2120:Rasgrp2 UTSW 19 6404395 missense probably benign 0.00
R2122:Rasgrp2 UTSW 19 6404395 missense probably benign 0.00
R2124:Rasgrp2 UTSW 19 6404395 missense probably benign 0.00
R3879:Rasgrp2 UTSW 19 6413890 missense probably benign 0.07
R4049:Rasgrp2 UTSW 19 6404727 missense probably damaging 1.00
R4655:Rasgrp2 UTSW 19 6404846 intron probably benign
R5250:Rasgrp2 UTSW 19 6404313 missense probably damaging 1.00
R5320:Rasgrp2 UTSW 19 6408834 splice site probably null
R5620:Rasgrp2 UTSW 19 6405001 missense probably damaging 1.00
R5933:Rasgrp2 UTSW 19 6402513 missense probably damaging 1.00
R6155:Rasgrp2 UTSW 19 6402501 missense probably damaging 1.00
R6157:Rasgrp2 UTSW 19 6402501 missense probably damaging 1.00
R6867:Rasgrp2 UTSW 19 6413183 missense probably benign 0.00
R7237:Rasgrp2 UTSW 19 6404808 missense possibly damaging 0.79
R7575:Rasgrp2 UTSW 19 6404367 missense probably damaging 0.99
R7659:Rasgrp2 UTSW 19 6401827 missense probably damaging 0.98
R7744:Rasgrp2 UTSW 19 6405001 missense probably damaging 1.00
R7960:Rasgrp2 UTSW 19 6414809 missense probably benign
R7975:Rasgrp2 UTSW 19 6408559 missense probably damaging 1.00
R8415:Rasgrp2 UTSW 19 6404751 missense probably damaging 1.00
R8470:Rasgrp2 UTSW 19 6403565 critical splice donor site probably null
Posted On2016-08-02