Incidental Mutation 'R7573:Rasgrp1'
ID 586131
Institutional Source Beutler Lab
Gene Symbol Rasgrp1
Ensembl Gene ENSMUSG00000027347
Gene Name RAS guanyl releasing protein 1
Synonyms
MMRRC Submission 045659-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.264) question?
Stock # R7573 (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 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: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (80/81)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,366,917 (GRCm39) I49F Het
1810055G02Rik T A 19: 3,765,728 (GRCm39) M1K probably null Het
Abcb1b G A 5: 8,878,866 (GRCm39) C750Y possibly damaging Het
Abi2 T A 1: 60,509,867 (GRCm39) V412D probably benign Het
Alk C T 17: 72,207,787 (GRCm39) V983M probably damaging Het
Alppl2 A T 1: 87,015,953 (GRCm39) W266R possibly damaging Het
Arhgef18 A G 8: 3,434,918 (GRCm39) R188G probably damaging Het
Atp2c2 A T 8: 120,478,008 (GRCm39) D695V probably damaging Het
B3gnt4 A T 5: 123,648,718 (GRCm39) I28L probably benign Het
C2cd3 A G 7: 100,068,914 (GRCm39) D536G Het
Cacna1c A G 6: 118,581,406 (GRCm39) S1733P Het
Cacna1e T C 1: 154,601,911 (GRCm39) probably benign Het
Capns1 A G 7: 29,891,960 (GRCm39) F101L probably damaging Het
Ccdc180 A G 4: 45,922,015 (GRCm39) T1030A probably benign Het
Cdh23 T C 10: 60,159,329 (GRCm39) T2151A probably benign Het
Cenpe T A 3: 134,953,220 (GRCm39) L1558Q probably damaging Het
Cfap157 T C 2: 32,667,520 (GRCm39) H521R probably benign Het
Crygs T A 16: 22,624,069 (GRCm39) *179C probably null Het
Ctsb T C 14: 63,375,550 (GRCm39) V172A probably benign Het
Cul9 T C 17: 46,830,836 (GRCm39) T1686A probably benign Het
Cutc T C 19: 43,748,382 (GRCm39) V95A probably benign Het
Cxcl3 A G 5: 90,934,105 (GRCm39) T26A probably benign Het
Dnah9 A G 11: 66,016,041 (GRCm39) V400A probably benign Het
Dysf A T 6: 84,107,104 (GRCm39) N1139I possibly damaging Het
Fam136a G A 6: 86,343,667 (GRCm39) E55K probably benign Het
Fam151a A G 4: 106,600,502 (GRCm39) D179G probably damaging Het
Fam178b T C 1: 36,671,533 (GRCm39) D196G probably damaging Het
Fut9 A T 4: 25,620,691 (GRCm39) M41K probably benign Het
Gm9195 T C 14: 72,694,122 (GRCm39) Q1531R probably null Het
Gpr6 A T 10: 40,946,868 (GRCm39) V238D probably damaging Het
Hoxa2 A T 6: 52,140,283 (GRCm39) S234R probably benign Het
Itga4 A G 2: 79,103,337 (GRCm39) T143A probably benign Het
Kcnq2 A G 2: 180,723,382 (GRCm39) S693P probably benign Het
Kif13b A G 14: 65,041,107 (GRCm39) I1732V probably benign Het
Klhl14 A G 18: 21,785,211 (GRCm39) V72A probably benign Het
Krt1c T A 15: 101,722,954 (GRCm39) D348V probably benign Het
Map4k2 A T 19: 6,394,094 (GRCm39) E300D probably benign Het
Mars1 A G 10: 127,138,679 (GRCm39) probably null Het
Mpo A G 11: 87,688,403 (GRCm39) D354G probably benign Het
Mrpl15 T C 1: 4,847,778 (GRCm39) T174A probably damaging Het
Myom2 G A 8: 15,172,450 (GRCm39) C1183Y probably damaging Het
Nfkb2 C A 19: 46,297,082 (GRCm39) Q336K possibly damaging Het
Nlrp2 A G 7: 5,320,468 (GRCm39) probably null Het
Nlrp9b T C 7: 19,753,125 (GRCm39) L10P probably damaging Het
Nrip2 A G 6: 128,377,232 (GRCm39) S53G probably benign Het
Or13a22 G A 7: 140,072,912 (GRCm39) M120I probably damaging Het
Or4k36 T C 2: 111,146,277 (GRCm39) I151T probably benign Het
Or52a5b A G 7: 103,416,677 (GRCm39) M309T probably benign Het
Or52z13 C T 7: 103,246,735 (GRCm39) L71F probably benign Het
Or8b54 A T 9: 38,686,791 (GRCm39) K80I probably damaging Het
Or8g18 C T 9: 39,148,977 (GRCm39) V248I probably benign Het
Pak5 A G 2: 135,958,225 (GRCm39) S288P probably damaging Het
Pjvk T C 2: 76,487,809 (GRCm39) F234L probably benign Het
Plekhm2 T C 4: 141,358,658 (GRCm39) N616D probably benign Het
Pnkp C T 7: 44,506,852 (GRCm39) R9C probably damaging Het
Prom1 A G 5: 44,213,272 (GRCm39) C154R probably damaging Het
Rab3gap2 T A 1: 185,014,579 (GRCm39) W1243R probably benign Het
Rad17 C T 13: 100,765,974 (GRCm39) A385T probably damaging Het
Rnf213 T C 11: 119,349,310 (GRCm39) C3804R Het
Ros1 T A 10: 52,046,072 (GRCm39) T153S probably benign Het
Sema4g T C 19: 44,986,010 (GRCm39) S284P probably damaging Het
Septin9 C T 11: 117,090,571 (GRCm39) probably benign Het
Slc2a9 T C 5: 38,574,569 (GRCm39) S236G probably damaging Het
Slc9c1 T C 16: 45,398,256 (GRCm39) F674L probably benign Het
Slfn5 A T 11: 82,849,585 (GRCm39) K361N probably damaging Het
Smad6 A G 9: 63,929,052 (GRCm39) L88S unknown Het
Smarca4 T A 9: 21,550,371 (GRCm39) probably null Het
Smg7 A T 1: 152,735,240 (GRCm39) N198K probably damaging Het
Sorcs1 G A 19: 50,141,234 (GRCm39) Q1166* probably null Het
Stap1 A G 5: 86,238,854 (GRCm39) N212S possibly damaging Het
Tbx2 C G 11: 85,724,138 (GRCm39) A69G possibly damaging Het
Tmc1 C A 19: 20,884,372 (GRCm39) D23Y probably damaging Het
Tmf1 A T 6: 97,135,455 (GRCm39) D940E probably benign Het
Trim27 T A 13: 21,364,770 (GRCm39) C36S probably damaging Het
Unc80 G A 1: 66,560,696 (GRCm39) G808D probably damaging Het
Usp17ld G T 7: 102,900,094 (GRCm39) Y279* probably null Het
Usp40 G A 1: 87,913,794 (GRCm39) A433V probably benign Het
Vmn1r49 G A 6: 90,049,843 (GRCm39) A53V probably benign Het
Vmn1r84 T C 7: 12,095,787 (GRCm39) N302S probably benign Het
Wfdc2 A T 2: 164,407,741 (GRCm39) I137L 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
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 2019-10-24