Incidental Mutation 'R2094:Rasgrp3'
ID 232002
Institutional Source Beutler Lab
Gene Symbol Rasgrp3
Ensembl Gene ENSMUSG00000071042
Gene Name RAS, guanyl releasing protein 3
Synonyms LOC240168
MMRRC Submission 040098-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2094 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 75742891-75836049 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75810136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 279 (S279P)
Ref Sequence ENSEMBL: ENSMUSP00000129393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095204] [ENSMUST00000164192]
AlphaFold Q6NZH9
Predicted Effect probably damaging
Transcript: ENSMUST00000095204
AA Change: S279P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000092828
Gene: ENSMUSG00000071042
AA Change: S279P

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 damaging
Transcript: ENSMUST00000164192
AA Change: S279P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000129393
Gene: ENSMUSG00000071042
AA Change: S279P

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
Meta Mutation Damage Score 0.4626 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (56/56)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 192,857,154 (GRCm39) I169V probably benign Het
Arrdc5 A G 17: 56,604,856 (GRCm39) S144P probably benign Het
Astn1 A G 1: 158,495,179 (GRCm39) M92V probably benign Het
Atg5 A G 10: 44,195,544 (GRCm39) I189M probably damaging Het
Atmin A G 8: 117,684,277 (GRCm39) T646A probably damaging Het
Atp1a2 G A 1: 172,115,000 (GRCm39) R262W probably damaging Het
Atp6v1g2 A G 17: 35,455,785 (GRCm39) K16E probably damaging Het
Bex6 G A 16: 32,005,278 (GRCm39) E29K possibly damaging Het
Casd1 A G 6: 4,608,705 (GRCm39) Y101C probably damaging Het
Ccdc168 A C 1: 44,098,890 (GRCm39) I736S probably benign Het
Cdx1 T C 18: 61,168,984 (GRCm39) D70G possibly damaging Het
Cebpz T C 17: 79,242,983 (GRCm39) T224A probably benign Het
Cep170b T C 12: 112,702,164 (GRCm39) V319A possibly damaging Het
Chrna2 C T 14: 66,386,912 (GRCm39) R353W possibly damaging Het
Chst5 A T 8: 112,617,176 (GRCm39) V148E probably benign Het
Clhc1 T A 11: 29,507,771 (GRCm39) W162R probably benign Het
Csmd1 T A 8: 16,129,992 (GRCm39) Q1710L probably damaging Het
Ddb1 A C 19: 10,590,300 (GRCm39) M276L probably benign Het
Dot1l C T 10: 80,621,712 (GRCm39) R455C probably damaging Het
Dync2h1 A G 9: 7,148,735 (GRCm39) V903A probably benign Het
Eno1b T C 18: 48,180,542 (GRCm39) V240A possibly damaging Het
Erich1 T G 8: 14,140,527 (GRCm39) probably benign Het
Ermp1 A C 19: 29,617,328 (GRCm39) S227A probably benign Het
Etv1 C A 12: 38,885,115 (GRCm39) P143Q probably null Het
Gimap8 A T 6: 48,627,502 (GRCm39) I159F probably benign Het
Gpr4 G A 7: 18,956,503 (GRCm39) V142M possibly damaging Het
Gucy1a1 C T 3: 82,020,639 (GRCm39) C86Y probably benign Het
Ifngr2 T G 16: 91,358,667 (GRCm39) probably null Het
Insrr A T 3: 87,710,488 (GRCm39) N398I probably damaging Het
Iws1 A G 18: 32,217,719 (GRCm39) E441G probably damaging Het
Larp7-ps A G 4: 92,079,893 (GRCm39) S32P probably damaging Het
Megf10 A T 18: 57,414,785 (GRCm39) K732* probably null Het
Mprip T A 11: 59,640,334 (GRCm39) probably benign Het
Mrgprb8 T C 7: 48,038,953 (GRCm39) V208A probably benign Het
Msc G C 1: 14,825,908 (GRCm39) P22R probably benign Het
Opcml G A 9: 28,812,886 (GRCm39) E193K probably damaging Het
Or4k15b A T 14: 50,272,171 (GRCm39) S230T probably damaging Het
Oxsr1 A C 9: 119,123,560 (GRCm39) H71Q probably benign Het
Pkp2 T A 16: 16,064,831 (GRCm39) W452R probably damaging Het
Prrc2b C T 2: 32,072,582 (GRCm39) T20I probably damaging Het
Rtl1 T A 12: 109,557,831 (GRCm39) D1336V unknown Het
Serpina3m G T 12: 104,355,529 (GRCm39) K65N probably benign Het
Serpine2 A G 1: 79,788,411 (GRCm39) V182A probably damaging Het
Slc10a1 A G 12: 81,002,822 (GRCm39) V272A possibly damaging Het
Slc25a29 A T 12: 108,793,358 (GRCm39) N73K probably damaging Het
Slit1 G A 19: 41,594,819 (GRCm39) R1184W probably damaging Het
Srrm2 T C 17: 24,031,403 (GRCm39) probably benign Het
Stk11ip A G 1: 75,502,165 (GRCm39) probably benign Het
Tcerg1 A G 18: 42,697,210 (GRCm39) K767R possibly damaging Het
Tmem82 T C 4: 141,343,598 (GRCm39) K224R probably benign Het
Tmprss11g A G 5: 86,647,415 (GRCm39) L41S probably damaging Het
Trim42 T C 9: 97,248,150 (GRCm39) N182S probably benign Het
Ttn T C 2: 76,660,432 (GRCm39) T7430A probably benign Het
Wwp1 T C 4: 19,650,390 (GRCm39) T259A probably benign 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
IGL02672:Rasgrp3 APN 17 75,803,412 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- TTGCAAAGTGGAGCAGGCTG -3'
(R):5'- AGAAAGCTGGTGCATTTTCAC -3'

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