Incidental Mutation 'IGL02672:Rasgrp3'
ID 302952
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rasgrp3
Ensembl Gene ENSMUSG00000071042
Gene Name RAS, guanyl releasing protein 3
Synonyms LOC240168
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02672
Quality Score
Status
Chromosome 17
Chromosomal Location 75742891-75836049 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75803412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 70 (F70Y)
Ref Sequence ENSEMBL: ENSMUSP00000129393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095204] [ENSMUST00000164192]
AlphaFold Q6NZH9
Predicted Effect probably benign
Transcript: ENSMUST00000095204
AA Change: F70Y

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000092828
Gene: ENSMUSG00000071042
AA Change: F70Y

DomainStartEndE-ValueType
RasGEFN 2 125 6.77e-12 SMART
RasGEF 148 384 4.57e-104 SMART
EFh 424 452 1.07e-1 SMART
EFh 453 481 4.04e0 SMART
C1 495 544 5.47e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164192
AA Change: F70Y

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000129393
Gene: ENSMUSG00000071042
AA Change: F70Y

DomainStartEndE-ValueType
RasGEFN 2 125 6.77e-12 SMART
RasGEF 148 384 4.57e-104 SMART
EFh 424 452 1.07e-1 SMART
EFh 453 481 4.04e0 SMART
C1 495 544 5.47e-17 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RASGRP3, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutant mice are viable and fertile with no obvious abnormalities in the kidneys or vasculature. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted(3) Gene trapped(1)

Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn C T 4: 156,259,018 (GRCm39) probably benign Het
Alpi A G 1: 87,028,994 (GRCm39) L60P probably damaging Het
Arpc1a A C 5: 145,041,697 (GRCm39) I327L probably damaging Het
Col5a1 C T 2: 27,864,727 (GRCm39) A737V unknown Het
Dcaf7 T C 11: 105,945,684 (GRCm39) probably benign Het
Dnah9 T G 11: 65,818,427 (GRCm39) I3304L probably benign Het
Dpp10 T A 1: 123,304,376 (GRCm39) H508L probably benign Het
Dync1i1 A G 6: 5,767,034 (GRCm39) D86G probably benign Het
Enpp7 T C 11: 118,883,166 (GRCm39) probably null Het
Fbxw9 C A 8: 85,792,682 (GRCm39) probably null Het
Foxred2 A G 15: 77,829,777 (GRCm39) probably null Het
Gas2l2 C T 11: 83,315,957 (GRCm39) R254H probably damaging Het
Gatad2b C T 3: 90,249,198 (GRCm39) L79F possibly damaging Het
Igf1r A T 7: 67,839,781 (GRCm39) D696V probably benign Het
Kcnk5 A G 14: 20,196,580 (GRCm39) I96T probably damaging Het
Lrrc8c C T 5: 105,755,224 (GRCm39) T333M possibly damaging Het
Mcm10 T C 2: 5,006,092 (GRCm39) T417A probably benign Het
Mesp2 T C 7: 79,461,145 (GRCm39) S157P probably benign Het
Naca A G 10: 127,876,152 (GRCm39) probably benign Het
Or5t17 A T 2: 86,832,417 (GRCm39) M35L probably benign Het
Osgepl1 A G 1: 53,359,270 (GRCm39) T260A probably benign Het
Otop1 T C 5: 38,435,170 (GRCm39) probably null Het
Pdk1 T C 2: 71,726,096 (GRCm39) S335P probably damaging Het
Phkb A G 8: 86,668,987 (GRCm39) N338S probably benign Het
Pogz G A 3: 94,763,410 (GRCm39) V61I probably benign Het
Ppp4r1 A G 17: 66,147,942 (GRCm39) Y928C probably damaging Het
Rab17 T C 1: 90,886,940 (GRCm39) E160G probably damaging Het
Rere T A 4: 150,594,483 (GRCm39) N364K unknown Het
Ryr1 A T 7: 28,703,944 (GRCm39) probably benign Het
Sae1 A G 7: 16,104,273 (GRCm39) V112A probably damaging Het
Serpinb6d C T 13: 33,855,372 (GRCm39) H349Y probably benign Het
Slc12a1 T C 2: 125,012,596 (GRCm39) V286A probably damaging Het
Smad3 A T 9: 63,575,009 (GRCm39) probably null Het
Sox8 T A 17: 25,787,963 (GRCm39) D162V probably damaging Het
Sptbn1 A G 11: 30,087,239 (GRCm39) F1067L probably damaging Het
Tmprss3 T C 17: 31,409,981 (GRCm39) Y211C probably damaging Het
Top2b T C 14: 16,409,166 (GRCm38) probably benign Het
Tpp1 A T 7: 105,396,168 (GRCm39) H510Q probably benign Het
Ugcg T A 4: 59,218,587 (GRCm39) probably benign Het
Vmn2r96 T A 17: 18,818,376 (GRCm39) I651N probably benign Het
Wdr25 A T 12: 108,864,007 (GRCm39) K51* probably null Het
Other mutations in Rasgrp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02270:Rasgrp3 APN 17 75,823,368 (GRCm39) missense probably benign 0.00
IGL02529:Rasgrp3 APN 17 75,832,097 (GRCm39) missense possibly damaging 0.84
IGL02935:Rasgrp3 APN 17 75,804,065 (GRCm39) missense probably benign 0.00
Aster UTSW 17 75,816,822 (GRCm39) splice site probably null
aston UTSW 17 75,807,753 (GRCm39) critical splice donor site probably null
centre UTSW 17 75,807,729 (GRCm39) missense possibly damaging 0.50
P0021:Rasgrp3 UTSW 17 75,807,708 (GRCm39) missense probably damaging 1.00
PIT4243001:Rasgrp3 UTSW 17 75,807,134 (GRCm39) missense probably damaging 1.00
R0090:Rasgrp3 UTSW 17 75,805,456 (GRCm39) missense probably damaging 1.00
R0907:Rasgrp3 UTSW 17 75,816,822 (GRCm39) splice site probably null
R1182:Rasgrp3 UTSW 17 75,810,185 (GRCm39) missense probably benign 0.01
R1412:Rasgrp3 UTSW 17 75,816,822 (GRCm39) splice site probably null
R1572:Rasgrp3 UTSW 17 75,807,729 (GRCm39) missense possibly damaging 0.50
R1664:Rasgrp3 UTSW 17 75,831,172 (GRCm39) missense probably damaging 1.00
R2094:Rasgrp3 UTSW 17 75,810,136 (GRCm39) missense probably damaging 1.00
R2111:Rasgrp3 UTSW 17 75,807,753 (GRCm39) critical splice donor site probably null
R3026:Rasgrp3 UTSW 17 75,831,916 (GRCm39) missense possibly damaging 0.52
R4052:Rasgrp3 UTSW 17 75,803,963 (GRCm39) missense probably damaging 1.00
R4348:Rasgrp3 UTSW 17 75,818,975 (GRCm39) missense probably benign 0.00
R4509:Rasgrp3 UTSW 17 75,807,668 (GRCm39) missense probably damaging 1.00
R4642:Rasgrp3 UTSW 17 75,805,443 (GRCm39) missense possibly damaging 0.64
R4791:Rasgrp3 UTSW 17 75,807,168 (GRCm39) missense probably benign 0.37
R4901:Rasgrp3 UTSW 17 75,821,111 (GRCm39) nonsense probably null
R4927:Rasgrp3 UTSW 17 75,823,350 (GRCm39) missense probably benign 0.00
R5410:Rasgrp3 UTSW 17 75,804,042 (GRCm39) missense probably benign 0.01
R5444:Rasgrp3 UTSW 17 75,810,370 (GRCm39) missense probably damaging 0.99
R5483:Rasgrp3 UTSW 17 75,832,013 (GRCm39) missense probably damaging 1.00
R5518:Rasgrp3 UTSW 17 75,823,354 (GRCm39) missense probably benign 0.36
R5755:Rasgrp3 UTSW 17 75,831,940 (GRCm39) missense probably benign 0.44
R5845:Rasgrp3 UTSW 17 75,810,142 (GRCm39) missense possibly damaging 0.61
R6310:Rasgrp3 UTSW 17 75,801,204 (GRCm39) missense probably damaging 1.00
R6604:Rasgrp3 UTSW 17 75,810,110 (GRCm39) missense probably benign 0.10
R6826:Rasgrp3 UTSW 17 75,810,241 (GRCm39) missense probably damaging 1.00
R7409:Rasgrp3 UTSW 17 75,823,411 (GRCm39) missense possibly damaging 0.48
R7507:Rasgrp3 UTSW 17 75,804,055 (GRCm39) missense probably damaging 1.00
R7536:Rasgrp3 UTSW 17 75,821,128 (GRCm39) missense probably damaging 1.00
R7538:Rasgrp3 UTSW 17 75,803,411 (GRCm39) missense probably benign
R8089:Rasgrp3 UTSW 17 75,804,056 (GRCm39) missense possibly damaging 0.54
R8677:Rasgrp3 UTSW 17 75,819,055 (GRCm39) missense probably benign 0.00
R9483:Rasgrp3 UTSW 17 75,807,717 (GRCm39) missense probably benign 0.22
R9521:Rasgrp3 UTSW 17 75,821,158 (GRCm39) missense probably null 1.00
R9557:Rasgrp3 UTSW 17 75,807,139 (GRCm39) missense probably damaging 0.98
R9727:Rasgrp3 UTSW 17 75,810,239 (GRCm39) missense probably damaging 1.00
R9757:Rasgrp3 UTSW 17 75,807,719 (GRCm39) missense probably damaging 1.00
X0011:Rasgrp3 UTSW 17 75,832,161 (GRCm39) nonsense probably null
Z1177:Rasgrp3 UTSW 17 75,819,090 (GRCm39) missense probably benign 0.03
Posted On 2015-04-16