Incidental Mutation 'R7246:Rasgrp1'
ID 563521
Institutional Source Beutler Lab
Gene Symbol Rasgrp1
Ensembl Gene ENSMUSG00000027347
Gene Name RAS guanyl releasing protein 1
Synonyms
MMRRC Submission 045309-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.264) question?
Stock # R7246 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 117110464-117173358 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 117168835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 48 (R48*)
Ref Sequence ENSEMBL: ENSMUSP00000136423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102534] [ENSMUST00000172901] [ENSMUST00000173252] [ENSMUST00000173541] [ENSMUST00000174770] [ENSMUST00000178884]
AlphaFold Q9Z1S3
Predicted Effect probably null
Transcript: ENSMUST00000102534
AA Change: R48*
SMART Domains Protein: ENSMUSP00000099593
Gene: ENSMUSG00000027347
AA Change: R48*

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 null
Transcript: ENSMUST00000172901
AA Change: R48*
SMART Domains Protein: ENSMUSP00000133449
Gene: ENSMUSG00000027347
AA Change: R48*

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 null
Transcript: ENSMUST00000173252
AA Change: R48*
SMART Domains Protein: ENSMUSP00000134592
Gene: ENSMUSG00000027347
AA Change: R48*

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 null
Transcript: ENSMUST00000173541
AA Change: R48*
SMART Domains Protein: ENSMUSP00000134027
Gene: ENSMUSG00000027347
AA Change: R48*

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 null
Transcript: ENSMUST00000174770
AA Change: R48*
SMART Domains Protein: ENSMUSP00000134167
Gene: ENSMUSG00000027347
AA Change: R48*

DomainStartEndE-ValueType
RasGEFN 52 176 1.65e-33 SMART
RasGEF 201 437 1.64e-96 SMART
Predicted Effect probably null
Transcript: ENSMUST00000178884
AA Change: R48*
SMART Domains Protein: ENSMUSP00000136423
Gene: ENSMUSG00000027347
AA Change: R48*

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 97% (74/76)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,635,902 (GRCm39) S318R probably damaging Het
Abce1 A T 8: 80,429,698 (GRCm39) N74K probably damaging Het
Akr1b7 T A 6: 34,392,404 (GRCm39) D72E probably benign Het
Amer3 T A 1: 34,625,809 (GRCm39) I16N possibly damaging Het
Atp6v0d1 T C 8: 106,257,606 (GRCm39) N108D probably damaging Het
Avpr1b T C 1: 131,528,008 (GRCm39) V177A probably damaging Het
B020011L13Rik A T 1: 117,728,969 (GRCm39) K159* probably null Het
Bpifb1 T C 2: 154,049,012 (GRCm39) L172P probably damaging Het
Brca1 G A 11: 101,414,204 (GRCm39) T1310I probably benign Het
C130074G19Rik C A 1: 184,615,166 (GRCm39) R8L probably damaging Het
Ccdc178 T C 18: 22,242,811 (GRCm39) H268R possibly damaging Het
Cdc42ep5 A G 7: 4,154,473 (GRCm39) V105A possibly damaging Het
Cntn4 T C 6: 106,483,180 (GRCm39) L245P probably damaging Het
Crtac1 T C 19: 42,276,365 (GRCm39) E521G probably benign Het
Cts7 T A 13: 61,503,394 (GRCm39) N190I probably damaging Het
Cul7 A G 17: 46,972,993 (GRCm39) E1368G probably benign Het
Dhrs7l A T 12: 72,666,266 (GRCm39) M89K possibly damaging Het
Dpp10 G A 1: 123,262,106 (GRCm39) P759S probably damaging Het
Etf1 A G 18: 35,064,964 (GRCm39) S11P unknown Het
Exd2 G T 12: 80,527,309 (GRCm39) L167F probably damaging Het
Exoc8 T A 8: 125,623,156 (GRCm39) R404* probably null Het
Fat2 T C 11: 55,187,208 (GRCm39) T1213A probably benign Het
Fgfr2 T C 7: 129,844,136 (GRCm39) Het
Gtf3c1 T A 7: 125,268,266 (GRCm39) Het
Id2 T A 12: 25,145,820 (GRCm39) I64F probably damaging Het
Idh3a G T 9: 54,499,756 (GRCm39) A75S probably damaging Het
Ift70a2 A G 2: 75,808,023 (GRCm39) L163P probably damaging Het
Itgb8 C G 12: 119,131,785 (GRCm39) G620A probably damaging Het
Itih5 T A 2: 10,191,873 (GRCm39) probably null Het
Lamtor5 A T 3: 107,189,336 (GRCm39) D124V probably damaging Het
Mast4 T C 13: 102,930,511 (GRCm39) E439G probably damaging Het
Meltf T G 16: 31,713,680 (GRCm39) L641R probably damaging Het
Mesd G T 7: 83,541,420 (GRCm39) probably benign Het
Nfia C T 4: 97,953,579 (GRCm39) P439L probably damaging Het
Nptx1 A T 11: 119,435,416 (GRCm39) probably null Het
Or1o3 A T 17: 37,573,905 (GRCm39) C217S probably benign Het
Or2j6 T A 7: 139,980,061 (GRCm39) R299S probably benign Het
Or5t7 A G 2: 86,507,633 (GRCm39) F15L probably benign Het
Or7g29 G A 9: 19,286,761 (GRCm39) Q139* probably null Het
Pdss2 T A 10: 43,248,172 (GRCm39) H225Q probably benign Het
Pik3r5 C A 11: 68,383,769 (GRCm39) S529R probably benign Het
Plxna2 T C 1: 194,326,590 (GRCm39) S175P possibly damaging Het
Pom121l12 T A 11: 14,549,551 (GRCm39) W86R probably benign Het
Ppid C T 3: 79,498,740 (GRCm39) probably benign Het
Pramel7 T A 2: 87,322,509 (GRCm39) D85V probably damaging Het
Prune2 C T 19: 17,098,732 (GRCm39) T1412I probably damaging Het
Ptprd T C 4: 76,046,913 (GRCm39) Y204C probably damaging Het
Rbks A G 5: 31,805,127 (GRCm39) S246P possibly damaging Het
Rnf113a2 G T 12: 84,464,451 (GRCm39) M114I possibly damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGCCGGCGGCG 7: 97,229,129 (GRCm39) probably benign Het
Scara3 A G 14: 66,169,093 (GRCm39) S175P probably damaging Het
Slc4a4 T A 5: 89,270,262 (GRCm39) L261Q probably damaging Het
Sparcl1 T C 5: 104,233,023 (GRCm39) I593V probably benign Het
Suclg1 C T 6: 73,253,696 (GRCm39) H115Y unknown Het
Syde2 T A 3: 145,694,510 (GRCm39) C253S probably benign Het
Tecrl A T 5: 83,427,182 (GRCm39) I322N probably damaging Het
Tesmin C T 19: 3,456,965 (GRCm39) A428V probably damaging Het
Thbd T A 2: 148,248,405 (GRCm39) T488S probably benign Het
Tln2 A T 9: 67,170,261 (GRCm39) V876E probably damaging Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Unc13b T A 4: 43,172,910 (GRCm39) I1246K unknown Het
Usp47 T A 7: 111,715,116 (GRCm39) Het
Vmn1r192 C T 13: 22,371,944 (GRCm39) R92Q probably damaging Het
Vmn2r111 T C 17: 22,767,695 (GRCm39) T601A probably damaging Het
Vmn2r51 A G 7: 9,836,428 (GRCm39) F118L probably benign Het
Vmn2r74 T A 7: 85,605,173 (GRCm39) I492L probably benign Het
Vmn2r93 C T 17: 18,546,012 (GRCm39) T628I possibly damaging Het
Vps13d C T 4: 144,882,620 (GRCm39) R991K Het
Wdr5b T C 16: 35,862,306 (GRCm39) S142P probably damaging Het
Zfp428 G T 7: 24,215,069 (GRCm39) probably null 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
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'- GGCAAAATACAATCTAGGTTGCTC -3'
(R):5'- CCAGCTTCAGAGACTCACTGTC -3'

Sequencing Primer
(F):5'- TCTAGGTTGCTCTTGTATAAGACAC -3'
(R):5'- AGCTTCAGAGACTCACTGTCCTATC -3'
Posted On 2019-06-26