Incidental Mutation 'R7450:Rasgrp1'
ID 577620
Institutional Source Beutler Lab
Gene Symbol Rasgrp1
Ensembl Gene ENSMUSG00000027347
Gene Name RAS guanyl releasing protein 1
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.264) question?
Stock # R7450 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 117110464-117173358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 117118424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 522 (I522V)
Ref Sequence ENSEMBL: ENSMUSP00000136423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102534] [ENSMUST00000172901] [ENSMUST00000173252] [ENSMUST00000173541] [ENSMUST00000174770] [ENSMUST00000178884]
AlphaFold Q9Z1S3
Predicted Effect probably damaging
Transcript: ENSMUST00000102534
AA Change: I522V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099593
Gene: ENSMUSG00000027347
AA Change: I522V

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: I487V

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000133449
Gene: ENSMUSG00000027347
AA Change: I487V

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: I487V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134592
Gene: ENSMUSG00000027347
AA Change: I487V

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 possibly damaging
Transcript: ENSMUST00000173541
AA Change: I487V

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134027
Gene: ENSMUSG00000027347
AA Change: I487V

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
SMART Domains Protein: ENSMUSP00000134167
Gene: ENSMUSG00000027347

DomainStartEndE-ValueType
RasGEFN 52 176 1.65e-33 SMART
RasGEF 201 437 1.64e-96 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000178884
AA Change: I522V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000136423
Gene: ENSMUSG00000027347
AA Change: I522V

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 0.0955 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T A 5: 113,331,977 (GRCm39) R746W possibly damaging Het
Abcc2 T C 19: 43,810,478 (GRCm39) L925P probably damaging Het
Abcc3 A T 11: 94,252,521 (GRCm39) H787Q probably damaging Het
Acly A T 11: 100,370,101 (GRCm39) V987E probably damaging Het
Afg2a T C 3: 37,510,934 (GRCm39) L697S probably damaging Het
Cacna1b A T 2: 24,525,147 (GRCm39) Y1676* probably null Het
Ccdc168 A G 1: 44,097,933 (GRCm39) V1055A probably benign Het
Ccdc175 T A 12: 72,202,447 (GRCm39) I283F possibly damaging Het
Cfap46 A T 7: 139,197,353 (GRCm39) F2173I unknown Het
Cln6 G A 9: 62,757,912 (GRCm39) E224K probably damaging Het
Cyp1a1 T A 9: 57,609,415 (GRCm39) L372Q probably damaging Het
Dnah8 T A 17: 31,006,165 (GRCm39) I3694N probably damaging Het
Dnal1 T C 12: 84,171,297 (GRCm39) Y31H probably benign Het
Eid3 T A 10: 82,702,737 (GRCm39) M66K probably benign Het
Epo T A 5: 137,481,497 (GRCm39) E143D probably damaging Het
Fbxo25 C A 8: 13,981,235 (GRCm39) N236K probably benign Het
Fsip2 A G 2: 82,782,024 (GRCm39) I266V probably benign Het
Galnt6 T C 15: 100,595,696 (GRCm39) Y444C probably damaging Het
Gna11 T C 10: 81,368,356 (GRCm39) Y160C Het
Hectd4 A T 5: 121,419,995 (GRCm39) T647S probably benign Het
Hgd T C 16: 37,444,686 (GRCm39) V316A possibly damaging Het
Idh3a T C 9: 54,503,367 (GRCm39) V142A probably damaging Het
Il3ra T A 14: 14,351,090 (GRCm38) I297N probably benign Het
Kcnj5 T G 9: 32,233,491 (GRCm39) I275L possibly damaging Het
Kdm7a A T 6: 39,120,185 (GRCm39) L928Q probably damaging Het
Kmo A G 1: 175,466,666 (GRCm39) I75V probably benign Het
Krtap1-3 C A 11: 99,481,697 (GRCm39) C150F unknown Het
Lingo3 C A 10: 80,670,671 (GRCm39) E420* probably null Het
Lrrc37a A G 11: 103,389,152 (GRCm39) V2091A probably benign Het
N4bp2 T A 5: 65,982,643 (GRCm39) Y1632* probably null Het
Nlrp1a C A 11: 70,998,484 (GRCm39) G905V probably damaging Het
Nlrp9c T A 7: 26,064,364 (GRCm39) E988V probably benign Het
Nol8 T G 13: 49,813,491 (GRCm39) H179Q probably benign Het
Notch3 G A 17: 32,360,365 (GRCm39) P1522L possibly damaging Het
Nup210l T C 3: 90,022,495 (GRCm39) probably null Het
Oas1b T A 5: 120,959,321 (GRCm39) Y234* probably null Het
Or10al7 T C 17: 38,366,000 (GRCm39) I152M probably benign Het
Or12d17 C A 17: 37,777,507 (GRCm39) Q137K probably benign Het
Or12e14 A C 2: 87,676,803 (GRCm39) K63Q probably damaging Het
Or13c9 T A 4: 52,936,113 (GRCm39) K57* probably null Het
Or6c1b A C 10: 129,273,298 (GRCm39) M206L probably benign Het
Pag1 T C 3: 9,764,599 (GRCm39) T185A probably damaging Het
Palmd A T 3: 116,721,292 (GRCm39) S100T probably damaging Het
Papln C A 12: 83,826,945 (GRCm39) A690E probably benign Het
Pcdhga7 C T 18: 37,849,079 (GRCm39) T362M probably benign Het
Pmpcb T A 5: 21,951,983 (GRCm39) V286E possibly damaging Het
Pon3 T C 6: 5,236,940 (GRCm39) I142M possibly damaging Het
Prdx6 A G 1: 161,069,386 (GRCm39) S194P probably benign Het
Rapgef2 T C 3: 79,080,366 (GRCm39) E112G probably benign Het
Rhox4d G A X: 36,700,645 (GRCm39) G191E unknown Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rps6kb1 T A 11: 86,393,657 (GRCm39) E491V probably benign Het
Sema3d C T 5: 12,634,901 (GRCm39) Q656* probably null Het
Shisa6 A T 11: 66,108,832 (GRCm39) D348E probably benign Het
Slc16a7 G T 10: 125,063,920 (GRCm39) H472Q probably benign Het
Slc49a4 T C 16: 35,589,344 (GRCm39) I90V possibly damaging Het
Slc9a2 A G 1: 40,720,995 (GRCm39) probably benign Het
Smad4 A G 18: 73,810,924 (GRCm39) V20A probably damaging Het
Sstr3 G A 15: 78,424,043 (GRCm39) R235W probably damaging Het
Svep1 T A 4: 58,064,248 (GRCm39) H3245L possibly damaging Het
Tra2a G A 6: 49,227,919 (GRCm39) R70* probably null Het
Trav7-4 G T 14: 53,698,924 (GRCm39) V24L probably benign Het
Tsc2 C A 17: 24,819,005 (GRCm39) S1278I probably damaging Het
Ubtf A G 11: 102,197,475 (GRCm39) S726P unknown Het
Vmn2r42 A T 7: 8,187,220 (GRCm39) Y851N probably benign Het
Wwp1 A G 4: 19,640,016 (GRCm39) Y509H probably damaging Het
Xirp2 A C 2: 67,340,159 (GRCm39) Q800P possibly damaging Het
Zc3h7b T C 15: 81,667,281 (GRCm39) F609L probably benign Het
Zdhhc8 G T 16: 18,043,035 (GRCm39) H388Q probably benign Het
Zfp1004 A G 2: 150,035,046 (GRCm39) T456A probably benign Het
Zfp644 T C 5: 106,786,392 (GRCm39) K52E probably benign Het
Zfp82 T G 7: 29,756,320 (GRCm39) E254A probably 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
R6019:Rasgrp1 UTSW 2 117,122,376 (GRCm39) missense probably damaging 0.99
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
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'- GCTCTGAGCTGGAATGAGTG -3'
(R):5'- TTTGAGTCTCGAGCACACAC -3'

Sequencing Primer
(F):5'- ATGAAGATTTTGAGGCCATGACTG -3'
(R):5'- GTCTCGAGCACACACACATTTGG -3'
Posted On 2019-10-07