Incidental Mutation 'R8692:Rasgrp1'
ID 668415
Institutional Source Beutler Lab
Gene Symbol Rasgrp1
Ensembl Gene ENSMUSG00000027347
Gene Name RAS guanyl releasing protein 1
Synonyms
MMRRC Submission 068546-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.270) question?
Stock # R8692 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 117110464-117173358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 117115353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 745 (T745I)
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: T745I

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099593
Gene: ENSMUSG00000027347
AA Change: T745I

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
SMART Domains Protein: ENSMUSP00000133449
Gene: ENSMUSG00000027347

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 benign
Transcript: ENSMUST00000173252
SMART Domains Protein: ENSMUSP00000134592
Gene: ENSMUSG00000027347

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 damaging
Transcript: ENSMUST00000173541
AA Change: T710I

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134027
Gene: ENSMUSG00000027347
AA Change: T710I

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: T745I

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136423
Gene: ENSMUSG00000027347
AA Change: T745I

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: 99.5%
  • 20x: 98.1%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A C 1: 71,327,874 (GRCm39) I1402S probably damaging Het
Abca9 T C 11: 110,032,409 (GRCm39) D736G probably benign Het
Acy1 T C 9: 106,310,377 (GRCm39) E377G probably damaging Het
Apob G A 12: 8,058,270 (GRCm39) V2251M probably damaging Het
Arhgap23 C A 11: 97,345,322 (GRCm39) T657K probably damaging Het
Cabin1 T C 10: 75,587,410 (GRCm39) K129R probably benign Het
Cdh24 A T 14: 54,875,793 (GRCm39) F259I probably benign Het
Cops6 A G 5: 138,162,083 (GRCm39) N307S probably benign Het
Cyp4a31 G A 4: 115,423,769 (GRCm39) V143M probably damaging Het
Deaf1 A T 7: 140,877,444 (GRCm39) I561K probably benign Het
Dnah7a A C 1: 53,472,175 (GRCm39) S3531A probably benign Het
Dnajc14 T A 10: 128,642,900 (GRCm39) I274N probably damaging Het
Dnmt1 A G 9: 20,853,077 (GRCm39) L48S probably damaging Het
Efna4 A T 3: 89,242,549 (GRCm39) I115N probably damaging Het
Ermp1 T A 19: 29,594,093 (GRCm39) L692F probably benign Het
Fcho2 GT G 13: 98,882,382 (GRCm39) probably null Het
Fcsk A T 8: 111,615,722 (GRCm39) C536S probably benign Het
Fermt2 A T 14: 45,742,099 (GRCm39) C82* probably null Het
Gabra6 G T 11: 42,210,537 (GRCm39) D61E probably damaging Het
Gdpd4 T A 7: 97,690,140 (GRCm39) S611T probably benign Het
Gm10800 AAGAAAACTGAAAATCAT A 2: 98,497,379 (GRCm39) probably benign Het
Gm17430 G A 18: 9,726,336 (GRCm39) A112V probably benign Het
Gm2381 A T 7: 42,472,071 (GRCm39) L2Q probably damaging Het
Hif3a A T 7: 16,788,701 (GRCm39) L90Q probably benign Het
Irf3 C T 7: 44,649,889 (GRCm39) Q168* probably null Het
Krt82 T G 15: 101,456,828 (GRCm39) D184A possibly damaging Het
Lgals4 C T 7: 28,540,921 (GRCm39) R282C probably damaging Het
Lrrc49 A G 9: 60,594,445 (GRCm39) S28P probably damaging Het
Mfsd11 T A 11: 116,752,443 (GRCm39) N197K probably benign Het
Mindy1 A G 3: 95,199,587 (GRCm39) D243G probably damaging Het
Mphosph9 A T 5: 124,450,875 (GRCm39) W299R probably damaging Het
Mst1r G T 9: 107,792,050 (GRCm39) R862L possibly damaging Het
Nasp T A 4: 116,469,280 (GRCm39) probably null Het
Ncapg2 T C 12: 116,414,049 (GRCm39) I1073T probably damaging Het
Nek2 A T 1: 191,554,745 (GRCm39) K152N probably benign Het
Neurod2 T C 11: 98,218,960 (GRCm39) E68G probably benign Het
Or1j4 A T 2: 36,740,096 (GRCm39) I13F probably benign Het
Or2w3b T C 11: 58,623,595 (GRCm39) Y132C probably damaging Het
P4ha3 T A 7: 99,955,228 (GRCm39) I361N probably damaging Het
Pcdh15 T A 10: 74,289,805 (GRCm39) S875T possibly damaging Het
Pde7b G T 10: 20,423,639 (GRCm39) P79Q probably benign Het
Phb2 G A 6: 124,692,097 (GRCm39) A228T probably damaging Het
Piezo2 A T 18: 63,225,971 (GRCm39) C888* probably null Het
Pkhd1 A T 1: 20,462,374 (GRCm39) L2060Q probably damaging Het
Pms1 T C 1: 53,246,052 (GRCm39) M496V probably benign Het
Ppfibp1 C T 6: 146,892,013 (GRCm39) T91I probably benign Het
Ppp1r9b T C 11: 94,891,077 (GRCm39) L557P probably damaging Het
Ppp2r5c G T 12: 110,489,032 (GRCm39) V68L probably benign Het
Qrfp T A 2: 31,698,797 (GRCm39) H45L probably benign Het
Rnf144a G A 12: 26,370,972 (GRCm39) T163I probably benign Het
Sbsn A T 7: 30,451,522 (GRCm39) H179L unknown Het
Simc1 G A 13: 54,673,193 (GRCm39) V514I probably benign Het
Slc35d1 A G 4: 103,047,051 (GRCm39) M249T Het
Slfn4 T A 11: 83,079,709 (GRCm39) H466Q possibly damaging Het
Stab2 A T 10: 86,808,794 (GRCm39) C172S probably damaging Het
Tanc1 T C 2: 59,673,989 (GRCm39) I1698T probably benign Het
Tenm4 C T 7: 96,555,148 (GRCm39) P2618S probably benign Het
Tiam2 A C 17: 3,479,082 (GRCm39) D605A probably damaging Het
Tmed4 A T 11: 6,223,822 (GRCm39) D151E probably benign Het
Trim62 A T 4: 128,794,465 (GRCm39) I211F possibly damaging Het
Ttpa A G 4: 20,008,585 (GRCm39) D49G probably benign Het
Usf3 T C 16: 44,040,103 (GRCm39) S1528P probably benign Het
Usp34 C T 11: 23,379,325 (GRCm39) T1991I Het
Vash1 G A 12: 86,735,863 (GRCm39) V250M possibly damaging Het
Vmn1r199 T C 13: 22,567,809 (GRCm39) *368Q probably null Het
Vmn1r74 A G 7: 11,580,972 (GRCm39) T91A probably benign Het
Vmn1r8 T C 6: 57,013,557 (GRCm39) F203L probably benign Het
Vmn2r13 G T 5: 109,319,514 (GRCm39) Q489K probably benign Het
Vmn2r-ps158 G T 7: 42,697,108 (GRCm39) A722S probably benign Het
Zfp385b A T 2: 77,549,971 (GRCm39) V38E probably damaging Het
Zfp820 A G 17: 22,037,876 (GRCm39) I484T probably benign 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
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
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'- TGACTTAGATGACCTGTATTTGGC -3'
(R):5'- AAACAGAATCGTTCCCGTGG -3'

Sequencing Primer
(F):5'- GATGACCTGTATTTGGCAACTTTC -3'
(R):5'- TTGGTGGCGAGACGACC -3'
Posted On 2021-04-30