Incidental Mutation 'R4348:Rasgrp3'
ID 500636
Institutional Source Beutler Lab
Gene Symbol Rasgrp3
Ensembl Gene ENSMUSG00000071042
Gene Name RAS, guanyl releasing protein 3
Synonyms LOC240168
MMRRC Submission 041103-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4348 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 75742891-75836049 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75818975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 388 (Q388L)
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: Q388L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000092828
Gene: ENSMUSG00000071042
AA Change: Q388L

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: Q388L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000129393
Gene: ENSMUSG00000071042
AA Change: Q388L

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
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Aass A G 6: 23,113,738 (GRCm39) F235L probably benign Het
Adamts1 T A 16: 85,599,234 (GRCm39) D122V probably benign Het
Adcy6 A T 15: 98,502,041 (GRCm39) V191E probably benign Het
Cngb3 G A 4: 19,396,688 (GRCm39) R347Q probably damaging Het
Cntnap4 T A 8: 113,480,554 (GRCm39) C334S probably damaging Het
D7Ertd443e ACCTAGGAGGTCCT ACCT 7: 133,950,682 (GRCm39) probably null Het
Dnah12 T A 14: 26,536,498 (GRCm39) M2138K possibly damaging Het
Ebf2 T C 14: 67,476,871 (GRCm39) I138T probably damaging Het
Ect2l A G 10: 18,012,736 (GRCm39) S784P probably damaging Het
Emilin2 T C 17: 71,587,726 (GRCm39) M129V probably benign Het
Enah A T 1: 181,749,985 (GRCm39) S266T possibly damaging Het
Fhip1b A G 7: 105,034,556 (GRCm39) V422A probably damaging Het
Garem2 G A 5: 30,310,366 (GRCm39) R26H possibly damaging Het
Gfy T C 7: 44,827,040 (GRCm39) E352G probably benign Het
Gpatch11 T C 17: 79,148,446 (GRCm39) L128P probably damaging Het
Inava C T 1: 136,153,946 (GRCm39) V180I probably damaging Het
Kcns3 T C 12: 11,141,382 (GRCm39) N439S possibly damaging Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Mbd1 G T 18: 74,407,487 (GRCm39) R199L probably damaging Het
Mbd5 T A 2: 49,146,339 (GRCm39) M183K probably benign Het
Mecom C A 3: 30,020,887 (GRCm39) V452L possibly damaging Het
Nckap1l A G 15: 103,395,246 (GRCm39) T909A probably damaging Het
Ntrk2 A G 13: 59,026,073 (GRCm39) K464E probably damaging Het
Orc1 C T 4: 108,450,649 (GRCm39) T127I probably damaging Het
Pcdh17 T C 14: 84,685,060 (GRCm39) I509T probably damaging Het
Pcsk7 G A 9: 45,830,646 (GRCm39) A475T probably damaging Het
Prb1b T G 6: 132,290,624 (GRCm39) Y25S unknown Het
Prdm16 A G 4: 154,561,124 (GRCm39) V136A probably benign Het
Ptch1 C T 13: 63,682,143 (GRCm39) R537H probably damaging Het
Ptpn13 T A 5: 103,717,592 (GRCm39) S1879R probably damaging Het
Rnf31 AAC A 14: 55,838,555 (GRCm39) probably null Het
Rnf38 A T 4: 44,149,100 (GRCm39) N82K possibly damaging Het
Smco3 T A 6: 136,808,692 (GRCm39) T61S possibly damaging Het
Ssx2ip T C 3: 146,138,245 (GRCm39) V364A probably benign Het
Ttn A G 2: 76,595,109 (GRCm39) I20347T possibly damaging Het
Vmn2r120 A T 17: 57,829,466 (GRCm39) F477Y possibly damaging Het
Wee1 A G 7: 109,730,165 (GRCm39) H423R probably damaging 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
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
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'- ATATGCTCCAGAGACACAGAGC -3'
(R):5'- CATGGATGTGATCTGATTTCTGGAC -3'

Sequencing Primer
(F):5'- AAGTTCAAGACTGTCCTGGTCTACG -3'
(R):5'- CAGAGGTCCTGAGTTCAATTTCCAG -3'
Posted On 2017-12-01