Incidental Mutation 'R6019:Rasgrp1'
ID 478764
Institutional Source Beutler Lab
Gene Symbol Rasgrp1
Ensembl Gene ENSMUSG00000027347
Gene Name RAS guanyl releasing protein 1
Synonyms
MMRRC Submission 044193-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.270) question?
Stock # R6019 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 117110464-117173358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 117122376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 338 (D338G)
Ref Sequence ENSEMBL: ENSMUSP00000134592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102534] [ENSMUST00000172901] [ENSMUST00000173252] [ENSMUST00000173541] [ENSMUST00000174770] [ENSMUST00000178884]
AlphaFold Q9Z1S3
Predicted Effect possibly damaging
Transcript: ENSMUST00000102534
AA Change: D338G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099593
Gene: ENSMUSG00000027347
AA Change: D338G

DomainStartEndE-ValueType
RasGEFN 52 176 1.65e-33 SMART
RasGEF 201 437 1.64e-96 SMART
Pfam:EF-hand_5 474 499 3.2e-6 PFAM
Pfam:EF-hand_6 474 502 5e-6 PFAM
C1 542 591 5.77e-16 SMART
PDB:4L9U|B 740 791 2e-23 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000172901
AA Change: D338G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000133449
Gene: ENSMUSG00000027347
AA Change: D338G

DomainStartEndE-ValueType
RasGEFN 52 176 1.65e-33 SMART
RasGEF 201 437 1.64e-96 SMART
Pfam:EF-hand_6 442 467 1.2e-5 PFAM
C1 507 556 5.77e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000173252
AA Change: D338G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134592
Gene: ENSMUSG00000027347
AA Change: D338G

DomainStartEndE-ValueType
RasGEFN 52 176 1.65e-33 SMART
RasGEF 201 437 1.64e-96 SMART
Pfam:EF-hand_6 442 467 1.1e-5 PFAM
Pfam:C1_1 507 539 3.4e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173541
AA Change: D338G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000134027
Gene: ENSMUSG00000027347
AA Change: D338G

DomainStartEndE-ValueType
RasGEFN 52 176 1.65e-33 SMART
RasGEF 201 437 1.64e-96 SMART
Pfam:EF-hand_5 441 464 1.6e-5 PFAM
Pfam:EF-hand_6 442 467 1.6e-5 PFAM
C1 507 556 5.77e-16 SMART
PDB:4L9U|B 705 756 2e-23 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000174770
AA Change: D338G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000134167
Gene: ENSMUSG00000027347
AA Change: D338G

DomainStartEndE-ValueType
RasGEFN 52 176 1.65e-33 SMART
RasGEF 201 437 1.64e-96 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000178884
AA Change: D338G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000136423
Gene: ENSMUSG00000027347
AA Change: D338G

DomainStartEndE-ValueType
RasGEFN 52 176 1.65e-33 SMART
RasGEF 201 437 1.64e-96 SMART
Pfam:EF-hand_5 474 499 3.2e-6 PFAM
C1 542 591 5.77e-16 SMART
PDB:4L9U|B 740 791 2e-23 PDB
Meta Mutation Damage Score 0.0983 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.1%
Validation Efficiency 96% (81/84)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. It activates the Erk/MAP kinase cascade and regulates T-cells and B-cells development, homeostasis and differentiation. Alternatively spliced transcript variants encoding different isoforms have been identified. Altered expression of the different isoforms of this protein may be a cause of susceptibility to systemic lupus erythematosus (SLE). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for spontaneous and targeted null mutations exhibit a lymphoproliferative autoimmune syndrome in which T cells fail to activate Ras or proliferate after antigen exposure, defects in positive selection, and enlarged spleen and lymph nodes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 C T 16: 20,371,201 (GRCm39) H436Y possibly damaging Het
Acad10 A T 5: 121,772,864 (GRCm39) H472Q possibly damaging Het
Ano8 G A 8: 71,935,024 (GRCm39) R393C probably damaging Het
Arhgap18 T A 10: 26,736,646 (GRCm39) V163E probably damaging Het
AW209491 C T 13: 14,812,365 (GRCm39) A406V probably benign Het
Brix1 C T 15: 10,476,675 (GRCm39) R267H probably benign Het
Cacng5 T C 11: 107,775,214 (GRCm39) M52V probably benign Het
Casz1 T C 4: 149,031,495 (GRCm39) C1249R probably damaging Het
Cenpj C T 14: 56,772,272 (GRCm39) S1086N probably benign Het
Chi3l1 T C 1: 134,117,310 (GRCm39) F367S probably benign Het
Copg2 A T 6: 30,787,868 (GRCm39) I610N possibly damaging Het
Cpa6 T C 1: 10,665,868 (GRCm39) K57E possibly damaging Het
D5Ertd579e C T 5: 36,787,036 (GRCm39) A111T possibly damaging Het
Dgat2 A G 7: 98,803,838 (GRCm39) M361T probably benign Het
Dnm3 G T 1: 161,962,070 (GRCm39) F46L probably damaging Het
Dph7 T A 2: 24,853,552 (GRCm39) C122* probably null Het
Dspp A T 5: 104,325,905 (GRCm39) D756V unknown Het
Efcab3 T C 11: 104,933,728 (GRCm39) probably null Het
Ep300 T A 15: 81,525,583 (GRCm39) M1469K unknown Het
Fsip2 T C 2: 82,818,283 (GRCm39) I4672T possibly damaging Het
Gapdh A T 6: 125,139,996 (GRCm39) L67* probably null Het
Gpr75 A G 11: 30,841,640 (GRCm39) R182G probably benign Het
Gsr G T 8: 34,183,835 (GRCm39) A366S probably damaging Het
Gypc A G 18: 32,663,248 (GRCm39) I33T probably damaging Het
Hapln1 A G 13: 89,756,219 (GRCm39) D341G probably benign Het
Hnrnpd A G 5: 100,115,095 (GRCm39) S148P probably benign Het
Hydin A T 8: 111,293,252 (GRCm39) T3450S probably benign Het
Kif20b T C 19: 34,927,864 (GRCm39) V1002A probably benign Het
Kif5c T C 2: 49,625,521 (GRCm39) V597A probably benign Het
Kntc1 A G 5: 123,900,579 (GRCm39) T226A probably benign Het
Krt75 C A 15: 101,482,158 (GRCm39) V37L probably benign Het
L3mbtl2 A G 15: 81,571,143 (GRCm39) I668V probably benign Het
Lrp1b G A 2: 41,192,982 (GRCm39) A480V probably damaging Het
Lrp1b T A 2: 41,366,821 (GRCm39) D485V probably damaging Het
Lrrc37a T C 11: 103,347,422 (GRCm39) H3091R unknown Het
Msi1 A G 5: 115,589,550 (GRCm39) Y361C probably damaging Het
Mtus1 G T 8: 41,536,077 (GRCm39) N546K probably benign Het
Mup17 T A 4: 61,511,936 (GRCm39) T113S probably benign Het
Myh11 T A 16: 14,023,938 (GRCm39) D1479V probably damaging Het
Ncor1 C T 11: 62,263,987 (GRCm39) E198K probably benign Het
Nrde2 A G 12: 100,098,501 (GRCm39) V722A probably benign Het
Or13a28 T C 7: 140,217,925 (GRCm39) F104L probably benign Het
Or51f23 C T 7: 102,453,491 (GRCm39) R269* probably null Het
Or5ac24 C T 16: 59,165,798 (GRCm39) D89N possibly damaging Het
Otog A G 7: 45,938,374 (GRCm39) M2028V probably benign Het
Paox T A 7: 139,711,655 (GRCm39) V169E probably damaging Het
Pcsk9 T G 4: 106,314,073 (GRCm39) D174A probably benign Het
Pde4b A G 4: 102,427,966 (GRCm39) E41G possibly damaging Het
Pip4k2c A G 10: 127,034,943 (GRCm39) I419T probably damaging Het
Plekhg3 G T 12: 76,624,715 (GRCm39) E1186* probably null Het
Pole C A 5: 110,472,380 (GRCm39) P1548T probably benign Het
Pole C T 5: 110,472,381 (GRCm39) P1548L probably benign Het
Polq A G 16: 36,882,126 (GRCm39) E1430G probably damaging Het
Potefam3c A T 8: 69,881,966 (GRCm39) C337S probably benign Het
Pramel47 G A 5: 95,488,072 (GRCm39) S2N probably damaging Het
Ptgr2 T C 12: 84,344,920 (GRCm39) S98P probably damaging Het
Ralgapa1 A G 12: 55,730,827 (GRCm39) Y1903H possibly damaging Het
Rif1 C G 2: 51,985,856 (GRCm39) L614V probably damaging Het
Rnase13 C T 14: 52,159,860 (GRCm39) C93Y probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
S100z T A 13: 95,613,934 (GRCm39) M59L probably benign Het
Ska1 T A 18: 74,332,992 (GRCm39) D142V probably benign Het
Slc16a3 T C 11: 120,847,931 (GRCm39) probably null Het
Snd1 T C 6: 28,880,233 (GRCm39) V669A probably benign Het
Snrpd3 A T 10: 75,368,029 (GRCm39) T49S probably damaging Het
Sort1 T C 3: 108,264,549 (GRCm39) L856P possibly damaging Het
Srek1ip1 T A 13: 104,970,830 (GRCm39) probably null Het
Ssrp1 T C 2: 84,875,796 (GRCm39) S552P probably damaging Het
Stab2 A G 10: 86,838,886 (GRCm39) V60A probably benign Het
Stard9 GCCC GCC 2: 120,524,196 (GRCm39) probably null Het
Tll1 A C 8: 64,494,525 (GRCm39) H743Q possibly damaging Het
Tpo G T 12: 30,144,980 (GRCm39) R590S possibly damaging Het
Trbv12-1 A T 6: 41,090,780 (GRCm39) T51S probably benign Het
Trbv30 C T 6: 41,258,708 (GRCm39) A40V probably benign Het
Tulp4 T A 17: 6,283,490 (GRCm39) V1173E possibly damaging Het
Upk1a A T 7: 30,311,810 (GRCm39) probably null Het
Vinac1 T C 2: 128,879,610 (GRCm39) Q772R probably benign Het
Vmn1r199 A G 13: 22,566,769 (GRCm39) D21G possibly damaging Het
Vmn2r7 T C 3: 64,623,643 (GRCm39) T317A probably damaging Het
Wdfy3 A G 5: 101,997,289 (GRCm39) V3112A probably damaging Het
Zbtb8os T C 4: 129,234,542 (GRCm39) V40A possibly damaging Het
Zfp1002 T A 2: 150,097,132 (GRCm39) H99L probably damaging Het
Zwint A G 10: 72,492,685 (GRCm39) K108E possibly damaging Het
Other mutations in Rasgrp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Rasgrp1 APN 2 117,136,272 (GRCm39) nonsense probably null
IGL00901:Rasgrp1 APN 2 117,115,611 (GRCm39) missense probably damaging 0.96
IGL01083:Rasgrp1 APN 2 117,115,549 (GRCm39) missense probably benign 0.22
IGL01325:Rasgrp1 APN 2 117,129,010 (GRCm39) missense probably damaging 1.00
IGL01520:Rasgrp1 APN 2 117,119,144 (GRCm39) missense probably damaging 1.00
IGL01776:Rasgrp1 APN 2 117,117,321 (GRCm39) critical splice donor site probably null
IGL01780:Rasgrp1 APN 2 117,115,359 (GRCm39) missense probably benign 0.00
IGL01859:Rasgrp1 APN 2 117,119,899 (GRCm39) missense probably benign 0.00
IGL01892:Rasgrp1 APN 2 117,124,323 (GRCm39) missense probably damaging 1.00
IGL02068:Rasgrp1 APN 2 117,131,059 (GRCm39) splice site probably benign
IGL02684:Rasgrp1 APN 2 117,113,057 (GRCm39) missense probably benign 0.03
bukhansan UTSW 2 117,122,178 (GRCm39) missense possibly damaging 0.78
Commendatore UTSW 2 117,113,132 (GRCm39) missense probably benign 0.03
dragged UTSW 2 117,129,026 (GRCm39) missense probably damaging 1.00
grouper UTSW 2 117,132,485 (GRCm39) nonsense probably null
Gyeryandsan UTSW 2 117,118,424 (GRCm39) missense probably damaging 1.00
Haddock UTSW 2 117,122,376 (GRCm39) missense probably damaging 0.99
jovial UTSW 2 117,119,158 (GRCm39) missense probably benign 0.01
mercurial UTSW 2 117,118,314 (GRCm39) nonsense probably null
naejangsan UTSW 2 117,122,273 (GRCm39) nonsense probably null
sea_bass UTSW 2 117,113,135 (GRCm39) missense probably benign 0.02
venutian UTSW 2 117,115,410 (GRCm39) nonsense probably null
R0067:Rasgrp1 UTSW 2 117,125,301 (GRCm39) missense probably damaging 1.00
R0067:Rasgrp1 UTSW 2 117,125,301 (GRCm39) missense probably damaging 1.00
R0538:Rasgrp1 UTSW 2 117,115,428 (GRCm39) missense probably benign 0.42
R0786:Rasgrp1 UTSW 2 117,130,980 (GRCm39) missense probably benign
R1068:Rasgrp1 UTSW 2 117,113,057 (GRCm39) missense probably benign 0.03
R1165:Rasgrp1 UTSW 2 117,115,420 (GRCm39) missense possibly damaging 0.49
R1491:Rasgrp1 UTSW 2 117,113,100 (GRCm39) nonsense probably null
R1707:Rasgrp1 UTSW 2 117,129,028 (GRCm39) missense probably damaging 1.00
R1869:Rasgrp1 UTSW 2 117,120,828 (GRCm39) missense probably damaging 1.00
R2214:Rasgrp1 UTSW 2 117,115,646 (GRCm39) missense probably damaging 0.98
R2425:Rasgrp1 UTSW 2 117,119,931 (GRCm39) critical splice acceptor site probably null
R3236:Rasgrp1 UTSW 2 117,122,293 (GRCm39) missense probably benign 0.00
R3915:Rasgrp1 UTSW 2 117,119,122 (GRCm39) missense probably damaging 1.00
R4079:Rasgrp1 UTSW 2 117,115,510 (GRCm39) missense probably benign 0.19
R4163:Rasgrp1 UTSW 2 117,113,135 (GRCm39) missense probably benign 0.02
R4781:Rasgrp1 UTSW 2 117,122,190 (GRCm39) missense probably benign 0.04
R4782:Rasgrp1 UTSW 2 117,115,356 (GRCm39) missense probably benign 0.00
R5028:Rasgrp1 UTSW 2 117,132,485 (GRCm39) nonsense probably null
R6220:Rasgrp1 UTSW 2 117,115,410 (GRCm39) nonsense probably null
R6294:Rasgrp1 UTSW 2 117,122,273 (GRCm39) nonsense probably null
R6335:Rasgrp1 UTSW 2 117,124,351 (GRCm39) missense probably damaging 0.99
R6948:Rasgrp1 UTSW 2 117,129,085 (GRCm39) missense probably damaging 0.99
R7165:Rasgrp1 UTSW 2 117,168,885 (GRCm39) missense probably benign 0.02
R7246:Rasgrp1 UTSW 2 117,168,835 (GRCm39) nonsense probably null
R7372:Rasgrp1 UTSW 2 117,115,635 (GRCm39) missense probably benign 0.01
R7400:Rasgrp1 UTSW 2 117,129,026 (GRCm39) missense probably damaging 1.00
R7432:Rasgrp1 UTSW 2 117,118,424 (GRCm39) missense probably damaging 1.00
R7448:Rasgrp1 UTSW 2 117,122,178 (GRCm39) missense possibly damaging 0.78
R7448:Rasgrp1 UTSW 2 117,118,424 (GRCm39) missense probably damaging 1.00
R7449:Rasgrp1 UTSW 2 117,118,424 (GRCm39) missense probably damaging 1.00
R7450:Rasgrp1 UTSW 2 117,118,424 (GRCm39) missense probably damaging 1.00
R7475:Rasgrp1 UTSW 2 117,116,589 (GRCm39) missense probably benign
R7487:Rasgrp1 UTSW 2 117,118,424 (GRCm39) missense probably damaging 1.00
R7573:Rasgrp1 UTSW 2 117,118,424 (GRCm39) missense probably damaging 1.00
R7672:Rasgrp1 UTSW 2 117,118,424 (GRCm39) missense probably damaging 1.00
R8016:Rasgrp1 UTSW 2 117,118,314 (GRCm39) nonsense probably null
R8199:Rasgrp1 UTSW 2 117,124,293 (GRCm39) missense probably damaging 1.00
R8527:Rasgrp1 UTSW 2 117,168,785 (GRCm39) missense probably benign 0.07
R8692:Rasgrp1 UTSW 2 117,115,353 (GRCm39) missense probably damaging 0.97
R8725:Rasgrp1 UTSW 2 117,119,158 (GRCm39) missense probably benign 0.01
R8727:Rasgrp1 UTSW 2 117,119,158 (GRCm39) missense probably benign 0.01
R8880:Rasgrp1 UTSW 2 117,115,425 (GRCm39) missense probably benign 0.01
R9280:Rasgrp1 UTSW 2 117,113,132 (GRCm39) missense probably benign 0.03
R9675:Rasgrp1 UTSW 2 117,173,190 (GRCm39) start codon destroyed probably benign 0.00
R9792:Rasgrp1 UTSW 2 117,118,429 (GRCm39) missense probably benign 0.32
R9793:Rasgrp1 UTSW 2 117,118,429 (GRCm39) missense probably benign 0.32
R9795:Rasgrp1 UTSW 2 117,118,429 (GRCm39) missense probably benign 0.32
Z1176:Rasgrp1 UTSW 2 117,132,455 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAGCTGGACCAATTCATTG -3'
(R):5'- TACCCTCTGACATTTGATGTAGCTG -3'

Sequencing Primer
(F):5'- GCAGCTGGACCAATTCATTGATATG -3'
(R):5'- TTGGGGAGTTGTAGTAGATACTAAC -3'
Posted On 2017-06-26