Incidental Mutation 'R1491:Rasgrp1'
ID 163708
Institutional Source Beutler Lab
Gene Symbol Rasgrp1
Ensembl Gene ENSMUSG00000027347
Gene Name RAS guanyl releasing protein 1
Synonyms
MMRRC Submission 039543-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.264) question?
Stock # R1491 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 117110464-117173358 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 117113100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 771 (Q771*)
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: Q771*
SMART Domains Protein: ENSMUSP00000099593
Gene: ENSMUSG00000027347
AA Change: Q771*

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 null
Transcript: ENSMUST00000173541
AA Change: Q736*
SMART Domains Protein: ENSMUSP00000134027
Gene: ENSMUSG00000027347
AA Change: Q736*

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 null
Transcript: ENSMUST00000178884
AA Change: Q771*
SMART Domains Protein: ENSMUSP00000136423
Gene: ENSMUSG00000027347
AA Change: Q771*

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: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 90.2%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730018C14Rik T A 12: 112,381,489 (GRCm39) noncoding transcript Het
Acss3 A G 10: 106,773,169 (GRCm39) S606P probably benign Het
Adamts13 C T 2: 26,868,327 (GRCm39) T146M probably damaging Het
Adora2b G A 11: 62,156,363 (GRCm39) V271M probably benign Het
Agpat5 A G 8: 18,896,739 (GRCm39) Y55C probably damaging Het
AI987944 A C 7: 41,023,772 (GRCm39) Y402* probably null Het
Angptl4 C T 17: 34,000,165 (GRCm39) A68T possibly damaging Het
Ankmy1 T C 1: 92,814,531 (GRCm39) I325M probably benign Het
Arfgap2 A G 2: 91,105,204 (GRCm39) K423E probably damaging Het
Arfgef3 A T 10: 18,522,302 (GRCm39) S575T probably damaging Het
Arhgap24 A G 5: 103,008,198 (GRCm39) I40V possibly damaging Het
Arhgef7 T C 8: 11,869,733 (GRCm39) probably null Het
Arid1a C A 4: 133,448,237 (GRCm39) S477I unknown Het
Armc7 T C 11: 115,367,029 (GRCm39) V58A probably damaging Het
Arrdc5 A T 17: 56,601,222 (GRCm39) I301N probably damaging Het
Capn15 G A 17: 26,183,453 (GRCm39) P343S probably damaging Het
Catspere2 C T 1: 177,843,495 (GRCm39) T69I possibly damaging Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Cgn C T 3: 94,670,535 (GRCm39) R1002Q probably damaging Het
Clstn3 A T 6: 124,414,449 (GRCm39) I759N possibly damaging Het
Cops5 A G 1: 10,104,243 (GRCm39) V166A possibly damaging Het
Cramp1 G T 17: 25,191,323 (GRCm39) T1046K probably benign Het
Cthrc1 T G 15: 38,950,072 (GRCm39) V143G probably damaging Het
Cul9 G A 17: 46,849,490 (GRCm39) Q552* probably null Het
Cyp27b1 A T 10: 126,886,957 (GRCm39) D391V probably damaging Het
Dcun1d2 A G 8: 13,331,040 (GRCm39) L30S probably damaging Het
Dsc3 T C 18: 20,120,091 (GRCm39) E189G probably damaging Het
Dst T G 1: 34,193,675 (GRCm39) S295A probably damaging Het
Dusp22 A G 13: 30,892,798 (GRCm39) T192A probably benign Het
Esp24 A T 17: 39,349,176 (GRCm39) M1L probably null Het
Evc2 G A 5: 37,550,541 (GRCm39) probably null Het
Fgd6 A G 10: 93,880,694 (GRCm39) N516S probably benign Het
Fmn1 T C 2: 113,426,714 (GRCm39) Y1144H probably damaging Het
Fut8 T A 12: 77,495,448 (GRCm39) I346K possibly damaging Het
Gata3 A C 2: 9,882,201 (GRCm39) V32G probably damaging Het
Glrb A T 3: 80,819,282 (GRCm39) C39S possibly damaging Het
Gpr171 A G 3: 59,005,016 (GRCm39) V253A probably benign Het
Hdac5 A G 11: 102,092,079 (GRCm39) V670A probably benign Het
Hmgxb3 T C 18: 61,266,980 (GRCm39) S1085G probably benign Het
Hspa4l A G 3: 40,741,226 (GRCm39) N746S probably benign Het
Hyal5 A G 6: 24,877,902 (GRCm39) T333A probably benign Het
Ippk T C 13: 49,615,069 (GRCm39) V484A probably benign Het
Jmjd8 A T 17: 26,048,266 (GRCm39) T33S possibly damaging Het
Kctd19 T A 8: 106,113,694 (GRCm39) I660L possibly damaging Het
Lrat A G 3: 82,810,649 (GRCm39) V124A probably benign Het
Madcam1 A G 10: 79,502,358 (GRCm39) I281V probably benign Het
Mast2 T A 4: 116,173,688 (GRCm39) I455F possibly damaging Het
Mroh7 A G 4: 106,560,255 (GRCm39) L683P probably benign Het
Myo15b C A 11: 115,777,683 (GRCm39) probably null Het
Ncam1 T C 9: 49,416,849 (GRCm39) E814G probably benign Het
Ncoa3 A G 2: 165,897,182 (GRCm39) T658A probably benign Het
Or13a20 T G 7: 140,232,650 (GRCm39) Y253D probably damaging Het
Or9a2 T C 6: 41,748,456 (GRCm39) Y259C possibly damaging Het
P2ry13 T C 3: 59,116,939 (GRCm39) K280E probably damaging Het
Paqr8 C A 1: 21,005,048 (GRCm39) F67L probably benign Het
Pfkfb3 G T 2: 11,498,747 (GRCm39) R37S probably damaging Het
Phf14 A G 6: 11,941,478 (GRCm39) D310G possibly damaging Het
Phkb A G 8: 86,602,286 (GRCm39) S26G possibly damaging Het
Pkd1l2 T A 8: 117,755,147 (GRCm39) I1684F probably damaging Het
Plod2 T C 9: 92,488,637 (GRCm39) V621A probably benign Het
Plvap T C 8: 71,964,116 (GRCm39) N82S probably damaging Het
Pomgnt2 A G 9: 121,811,326 (GRCm39) V485A probably damaging Het
Psmd9 A G 5: 123,366,410 (GRCm39) E14G probably benign Het
Pwwp2b A G 7: 138,835,879 (GRCm39) E440G probably damaging Het
Rft1 C T 14: 30,388,744 (GRCm39) Q223* probably null Het
Rgs22 C A 15: 36,093,047 (GRCm39) V409F probably damaging Het
Rgsl1 G A 1: 153,701,672 (GRCm39) P261S possibly damaging Het
Rpl7a A G 2: 26,801,127 (GRCm39) N38S probably damaging Het
Sh3rf2 T A 18: 42,187,004 (GRCm39) F41Y probably damaging Het
Spata6 T A 4: 111,603,388 (GRCm39) S34R probably damaging Het
Sult2a3 A T 7: 13,856,867 (GRCm39) Y18N probably benign Het
Tapt1 A G 5: 44,375,444 (GRCm39) probably null Het
Tex2 A T 11: 106,394,466 (GRCm39) C615S possibly damaging Het
Trim43b T C 9: 88,969,665 (GRCm39) K261R possibly damaging Het
Unc5c T A 3: 141,495,583 (GRCm39) M484K probably damaging Het
Vezf1 T A 11: 87,964,573 (GRCm39) S242T probably damaging Het
Vmn2r1 A G 3: 63,997,034 (GRCm39) Y230C probably damaging Het
Vmn2r94 A G 17: 18,477,965 (GRCm39) S149P probably damaging Het
Wfdc1 T A 8: 120,393,405 (GRCm39) probably null Het
Zfp975 T C 7: 42,312,236 (GRCm39) T126A probably benign Het
Zmym4 T C 4: 126,776,105 (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
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
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'- AGGTGCTGAACGTCTGCAATGAG -3'
(R):5'- TTACGATGCCTGCGTCACACTAC -3'

Sequencing Primer
(F):5'- GCAATGAGTTTTGAAGTGAGATCCC -3'
(R):5'- CCCAAGAATGGATTGTTCTGTC -3'
Posted On 2014-03-28