Incidental Mutation 'IGL02935:Rasgrp3'
ID364271
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rasgrp3
Ensembl Gene ENSMUSG00000071042
Gene NameRAS, guanyl releasing protein 3
SynonymsLOC240168
Accession Numbers

Ncbi RefSeq: NM_207246.4, NM_001166493.1; MGI:3028579

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02935
Quality Score
Status
Chromosome17
Chromosomal Location75435905-75529043 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 75497070 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 123 (V123I)
Ref Sequence ENSEMBL: ENSMUSP00000129393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095204] [ENSMUST00000164192]
Predicted Effect probably benign
Transcript: ENSMUST00000095204
AA Change: V123I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000092828
Gene: ENSMUSG00000071042
AA Change: V123I

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: V123I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000129393
Gene: ENSMUSG00000071042
AA Change: V123I

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 Strain: 3625862; 3525522
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik G A 13: 54,561,862 P13L possibly damaging Het
A930016O22Rik A T 7: 19,420,413 probably benign Het
Ajuba A G 14: 54,570,467 F436S probably damaging Het
Bptf C A 11: 107,080,799 A961S probably damaging Het
Brca1 A G 11: 101,489,867 V1780A probably benign Het
Bub1 A G 2: 127,801,295 L1043S probably damaging Het
Cngb3 T A 4: 19,425,491 M433K possibly damaging Het
Col4a1 T C 8: 11,219,166 D928G probably damaging Het
Colq G A 14: 31,535,634 P259S probably damaging Het
Csmd1 T C 8: 16,223,334 Y828C probably damaging Het
Dennd5a T C 7: 109,921,307 R448G possibly damaging Het
Dip2c A G 13: 9,662,146 D1435G probably damaging Het
Dst T A 1: 34,186,845 L1188* probably null Het
Duox1 G T 2: 122,324,519 G462C possibly damaging Het
Flcn A T 11: 59,795,236 I402N possibly damaging Het
Fuca2 G A 10: 13,507,319 E344K probably null Het
Golim4 T C 3: 75,894,992 H331R possibly damaging Het
Grid1 A T 14: 34,822,558 I29F possibly damaging Het
Hltf T A 3: 20,069,051 F201Y probably damaging Het
Ipo8 A T 6: 148,789,841 I677N probably benign Het
Meioc A G 11: 102,672,191 T72A probably benign Het
Meox2 A T 12: 37,109,105 H92L probably damaging Het
Mlec C A 5: 115,157,814 R74L probably benign Het
Mrpl58 G A 11: 115,410,228 probably benign Het
Mtch1 T C 17: 29,336,210 D288G probably benign Het
Myo16 A G 8: 10,532,990 E1090G probably benign Het
Nicn1 A G 9: 108,290,646 N39S probably benign Het
Nlrp9c A G 7: 26,385,276 S293P probably benign Het
Olfr1042 G T 2: 86,160,370 probably benign Het
Olfr1344 G A 7: 6,440,754 V285M possibly damaging Het
Olfr66 T C 7: 103,881,664 N193S probably damaging Het
Pcdh20 T A 14: 88,467,002 probably benign Het
Peg3 C A 7: 6,711,129 V365F probably damaging Het
Penk A G 4: 4,133,843 F268S probably damaging Het
Pitrm1 T A 13: 6,553,264 Y116N probably damaging Het
Prex1 C A 2: 166,570,345 G389C probably damaging Het
Ptch2 C T 4: 117,114,770 A1163V probably damaging Het
Slc36a2 G T 11: 55,170,028 N185K possibly damaging Het
Sox9 G T 11: 112,785,349 G455C probably damaging Het
St6galnac1 G T 11: 116,769,345 D47E probably benign Het
Taar5 A T 10: 23,971,517 D271V probably damaging Het
Top3a A T 11: 60,762,528 I85K possibly damaging Het
Ttll8 T A 15: 88,914,556 M659L probably benign Het
Ythdc2 C T 18: 44,855,045 R656C probably damaging Het
Other mutations in Rasgrp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02270:Rasgrp3 APN 17 75516373 missense probably benign 0.00
IGL02529:Rasgrp3 APN 17 75525102 missense possibly damaging 0.84
IGL02672:Rasgrp3 APN 17 75496417 missense probably benign 0.00
Aster UTSW 17 75509827 splice site probably null
aston UTSW 17 75500758 critical splice donor site probably null
centre UTSW 17 75500734 missense possibly damaging 0.50
P0021:Rasgrp3 UTSW 17 75500713 missense probably damaging 1.00
R0090:Rasgrp3 UTSW 17 75498461 missense probably damaging 1.00
R0907:Rasgrp3 UTSW 17 75509827 splice site probably null
R1182:Rasgrp3 UTSW 17 75503190 missense probably benign 0.01
R1412:Rasgrp3 UTSW 17 75509827 splice site probably null
R1572:Rasgrp3 UTSW 17 75500734 missense possibly damaging 0.50
R1664:Rasgrp3 UTSW 17 75524177 missense probably damaging 1.00
R2094:Rasgrp3 UTSW 17 75503141 missense probably damaging 1.00
R2111:Rasgrp3 UTSW 17 75500758 critical splice donor site probably null
R3026:Rasgrp3 UTSW 17 75524921 missense possibly damaging 0.52
R4052:Rasgrp3 UTSW 17 75496968 missense probably damaging 1.00
R4348:Rasgrp3 UTSW 17 75511980 missense probably benign 0.00
R4509:Rasgrp3 UTSW 17 75500673 missense probably damaging 1.00
R4642:Rasgrp3 UTSW 17 75498448 missense possibly damaging 0.64
R4791:Rasgrp3 UTSW 17 75500173 missense probably benign 0.37
R4901:Rasgrp3 UTSW 17 75514116 nonsense probably null
R4927:Rasgrp3 UTSW 17 75516355 missense probably benign 0.00
R5410:Rasgrp3 UTSW 17 75497047 missense probably benign 0.01
R5444:Rasgrp3 UTSW 17 75503375 missense probably damaging 0.99
R5483:Rasgrp3 UTSW 17 75525018 missense probably damaging 1.00
R5518:Rasgrp3 UTSW 17 75516359 missense probably benign 0.36
R5755:Rasgrp3 UTSW 17 75524945 missense probably benign 0.44
R5845:Rasgrp3 UTSW 17 75503147 missense possibly damaging 0.61
R6310:Rasgrp3 UTSW 17 75494209 missense probably damaging 1.00
R6604:Rasgrp3 UTSW 17 75503115 missense probably benign 0.10
R6826:Rasgrp3 UTSW 17 75503246 missense probably damaging 1.00
X0011:Rasgrp3 UTSW 17 75525166 nonsense probably null
Posted On2015-12-18