Incidental Mutation 'IGL01013:Rasgrp2'
ID 54093
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rasgrp2
Ensembl Gene ENSMUSG00000032946
Gene Name RAS, guanyl releasing protein 2
Synonyms Caldaggef1, CalDAG-GEFI
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01013
Quality Score
Status
Chromosome 19
Chromosomal Location 6449370-6465246 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 6454413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 152 (H152L)
Ref Sequence ENSEMBL: ENSMUSP00000129873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035716] [ENSMUST00000113467] [ENSMUST00000113468] [ENSMUST00000113469] [ENSMUST00000113471] [ENSMUST00000113472] [ENSMUST00000113476] [ENSMUST00000138555] [ENSMUST00000127021] [ENSMUST00000146601] [ENSMUST00000113475] [ENSMUST00000139522] [ENSMUST00000167240] [ENSMUST00000146831] [ENSMUST00000150713]
AlphaFold Q9QUG9
Predicted Effect probably damaging
Transcript: ENSMUST00000035716
AA Change: H152L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041135
Gene: ENSMUSG00000032946
AA Change: H152L

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 damaging
Transcript: ENSMUST00000113476
AA Change: H152L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109104
Gene: ENSMUSG00000032946
AA Change: H152L

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 damaging
Transcript: ENSMUST00000138555
AA Change: H152L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121635
Gene: ENSMUSG00000032946
AA Change: H152L

DomainStartEndE-ValueType
RasGEFN 3 126 3.56e-29 SMART
Pfam:RasGEF 151 231 1.6e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123661
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130480
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: 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: ENSMUST00000113475
SMART Domains Protein: ENSMUSP00000109103
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
RasGEFN 3 126 7.2e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139522
SMART Domains Protein: ENSMUSP00000123036
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
RasGEFN 3 125 6.02e-27 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167240
AA Change: H152L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129873
Gene: ENSMUSG00000032946
AA Change: H152L

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 damaging
Transcript: ENSMUST00000146831
AA Change: H152L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120630
Gene: ENSMUSG00000032946
AA Change: H152L

DomainStartEndE-ValueType
RasGEFN 3 126 3.56e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152022
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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T A 5: 77,034,053 (GRCm39) E499D possibly damaging Het
Abca1 A T 4: 53,038,185 (GRCm39) L2059* probably null Het
Ankar T A 1: 72,690,148 (GRCm39) I1228F possibly damaging Het
Appl1 A T 14: 26,671,433 (GRCm39) Y340N possibly damaging Het
Atp8b4 C A 2: 126,165,007 (GRCm39) R1103L probably benign Het
B4galt6 A G 18: 20,822,070 (GRCm39) V308A probably damaging Het
Ccdc162 G A 10: 41,457,335 (GRCm39) P1534L probably benign Het
Ccdc78 A G 17: 26,008,028 (GRCm39) E313G possibly damaging Het
Cep57l1 G A 10: 41,616,865 (GRCm39) R141* probably null Het
Cpsf1 G A 15: 76,483,497 (GRCm39) Q883* probably null Het
Crot A G 5: 9,043,575 (GRCm39) Y16H probably benign Het
Cyld T G 8: 89,468,990 (GRCm39) L587R probably damaging Het
Fam114a1 G A 5: 65,188,738 (GRCm39) probably null Het
Fam89b G T 19: 5,779,397 (GRCm39) D53E probably benign Het
Fig4 T C 10: 41,143,782 (GRCm39) M226V probably benign Het
Gm10722 A T 9: 3,002,230 (GRCm39) Y184F probably damaging Het
Hp C A 8: 110,305,653 (GRCm39) probably benign Het
Igsf9b G T 9: 27,245,600 (GRCm39) R1189L probably damaging Het
Ilf3 A G 9: 21,310,987 (GRCm39) N620D possibly damaging Het
Jakmip3 A C 7: 138,619,302 (GRCm39) E228A possibly damaging Het
Kpna3 A T 14: 61,607,966 (GRCm39) I413K probably damaging Het
Letm1 A T 5: 33,919,934 (GRCm39) C202S possibly damaging Het
Lmod2 C A 6: 24,604,134 (GRCm39) Q370K probably damaging Het
Map4k5 T C 12: 69,874,300 (GRCm39) probably benign Het
Mcidas T A 13: 113,134,119 (GRCm39) probably benign Het
Mme A G 3: 63,235,281 (GRCm39) probably null Het
Mrc1 T C 2: 14,333,236 (GRCm39) W1306R probably damaging Het
Mthfd1l C A 10: 3,980,716 (GRCm39) Q473K probably damaging Het
Muc6 A T 7: 141,234,333 (GRCm39) C719* probably null Het
Nsun7 T C 5: 66,440,944 (GRCm39) I355T possibly damaging Het
Padi6 A G 4: 140,456,314 (GRCm39) L560P probably damaging Het
Parl C A 16: 20,101,540 (GRCm39) A285S possibly damaging Het
Pclo A T 5: 14,843,848 (GRCm39) M4795L unknown Het
Polr2f A G 15: 79,030,329 (GRCm39) Y56C probably damaging Het
Rpl10l T C 12: 66,331,001 (GRCm39) D44G probably benign Het
Slc25a16 A G 10: 62,780,212 (GRCm39) probably null Het
Snrnp200 G A 2: 127,074,392 (GRCm39) E1411K probably damaging Het
Tanc2 G A 11: 105,515,891 (GRCm39) R3Q probably damaging Het
Tbc1d32 G T 10: 56,078,055 (GRCm39) probably null Het
Tcf7l2 T C 19: 55,908,059 (GRCm39) probably benign Het
Tnrc6c G T 11: 117,612,855 (GRCm39) V498L probably benign Het
Tymp G A 15: 89,260,513 (GRCm39) H102Y probably damaging Het
Wdr76 T C 2: 121,365,978 (GRCm39) S492P probably benign Het
Zc3h12d T C 10: 7,715,720 (GRCm39) I41T probably damaging Het
Other mutations in Rasgrp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-06-28