Incidental Mutation 'R7372:Rasgrp1'
ID 572136
Institutional Source Beutler Lab
Gene Symbol Rasgrp1
Ensembl Gene ENSMUSG00000027347
Gene Name RAS guanyl releasing protein 1
Synonyms
MMRRC Submission 045455-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.270) question?
Stock # R7372 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 117110464-117173358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 117115635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 651 (M651T)
Ref Sequence ENSEMBL: ENSMUSP00000136423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102534] [ENSMUST00000172901] [ENSMUST00000173252] [ENSMUST00000173541] [ENSMUST00000174770] [ENSMUST00000178884]
AlphaFold Q9Z1S3
Predicted Effect probably benign
Transcript: ENSMUST00000102534
AA Change: M651T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000099593
Gene: ENSMUSG00000027347
AA Change: M651T

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 benign
Transcript: ENSMUST00000173541
AA Change: M616T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000134027
Gene: ENSMUSG00000027347
AA Change: M616T

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 benign
Transcript: ENSMUST00000178884
AA Change: M651T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000136423
Gene: ENSMUSG00000027347
AA Change: M651T

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (68/69)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 G A 1: 156,450,189 (GRCm39) V119M probably damaging Het
Acss2 T C 2: 155,399,100 (GRCm39) V454A probably damaging Het
Adam6b T A 12: 113,453,784 (GRCm39) D200E probably benign Het
Adarb1 T A 10: 77,131,712 (GRCm39) probably null Het
Aqp12 C T 1: 92,934,088 (GRCm39) probably benign Het
Atrnl1 T C 19: 57,924,078 (GRCm39) V1281A possibly damaging Het
Brdt A G 5: 107,518,160 (GRCm39) E761G possibly damaging Het
Bsn A T 9: 107,987,718 (GRCm39) I2678N unknown Het
C2cd2 A T 16: 97,676,580 (GRCm39) C136S Het
Camk4 A G 18: 33,318,178 (GRCm39) D445G probably benign Het
Cckar T C 5: 53,864,624 (GRCm39) T26A probably damaging Het
Cd209a T A 8: 3,798,857 (GRCm39) probably null Het
Cept1 A G 3: 106,411,056 (GRCm39) F379S probably benign Het
Crhr1 A G 11: 104,054,719 (GRCm39) probably null Het
Cryzl1 T C 16: 91,509,085 (GRCm39) E72G probably benign Het
Ctnnal1 T A 4: 56,826,285 (GRCm39) E526V possibly damaging Het
Cyp3a41a T C 5: 145,650,374 (GRCm39) I90V possibly damaging Het
Dek T C 13: 47,259,053 (GRCm39) E51G unknown Het
Dnaaf6rt A T 1: 31,262,432 (GRCm39) D138V probably damaging Het
Evc2 T A 5: 37,544,477 (GRCm39) V742E probably damaging Het
Fat4 G A 3: 38,944,358 (GRCm39) V1084M probably damaging Het
Fscb G A 12: 64,518,598 (GRCm39) T956I unknown Het
Glipr2 T C 4: 43,968,184 (GRCm39) L29P probably damaging Het
Gm19402 A T 10: 77,526,261 (GRCm39) S111T unknown Het
Gm4553 ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC 7: 141,719,157 (GRCm39) probably benign Het
Gnl3 T C 14: 30,738,843 (GRCm39) K115E probably benign Het
Gpn1 T A 5: 31,658,465 (GRCm39) F147I probably damaging Het
Gsdmd T A 15: 75,737,618 (GRCm39) L232H probably benign Het
Helz2 A G 2: 180,880,216 (GRCm39) V500A possibly damaging Het
Hemk1 T C 9: 107,214,267 (GRCm39) E55G probably benign Het
Hs2st1 A T 3: 144,141,221 (GRCm39) probably null Het
Ighv1-63 A G 12: 115,459,486 (GRCm39) V37A probably damaging Het
Iqsec3 C A 6: 121,360,991 (GRCm39) E956* probably null Het
Kcnh8 T A 17: 53,201,129 (GRCm39) I521K probably damaging Het
Kif3c T A 12: 3,437,592 (GRCm39) M531K probably benign Het
Kif5c T A 2: 49,648,671 (GRCm39) probably null Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Lcor T C 19: 41,573,945 (GRCm39) L900P probably damaging Het
Lrrc32 A G 7: 98,149,014 (GRCm39) D598G probably benign Het
Mug2 T C 6: 122,060,425 (GRCm39) V1387A possibly damaging Het
Nin T A 12: 70,102,803 (GRCm39) E275V Het
Or5p68 A G 7: 107,945,703 (GRCm39) F162L probably benign Het
Papolg A G 11: 23,816,439 (GRCm39) I698T probably benign Het
Pcdhb20 A G 18: 37,639,840 (GRCm39) N789D probably benign Het
Pik3cg C T 12: 32,247,196 (GRCm39) M842I probably damaging Het
Pnn T A 12: 59,115,765 (GRCm39) D135E probably damaging Het
Pold1 C A 7: 44,192,847 (GRCm39) R5L possibly damaging Het
Prl8a1 A T 13: 27,758,089 (GRCm39) F207I probably damaging Het
Prr11 A G 11: 86,989,600 (GRCm39) V257A probably benign Het
Prtg C T 9: 72,758,848 (GRCm39) R401* probably null Het
Ryr2 T A 13: 11,695,885 (GRCm39) H2994L probably damaging Het
Snx13 A T 12: 35,128,950 (GRCm39) I23L probably benign Het
Snx7 A G 3: 117,576,000 (GRCm39) L429P probably damaging Het
Spta1 C T 1: 174,025,201 (GRCm39) Q689* probably null Het
Spty2d1 T C 7: 46,648,692 (GRCm39) D79G probably damaging Het
Tbc1d9b A G 11: 50,059,515 (GRCm39) probably null Het
Tnxb T C 17: 34,936,228 (GRCm39) F2722L possibly damaging Het
Tppp2 C T 14: 52,156,865 (GRCm39) R81C probably benign Het
Trim6 G T 7: 103,881,843 (GRCm39) A391S probably benign Het
Trim69 A C 2: 122,009,064 (GRCm39) T375P possibly damaging Het
Trim72 A G 7: 127,603,858 (GRCm39) N68S possibly damaging Het
Trrap G A 5: 144,726,208 (GRCm39) V386I probably benign Het
Ttn T C 2: 76,778,275 (GRCm39) I1371V unknown Het
Usp17lb A T 7: 104,490,913 (GRCm39) probably null Het
Vmn2r20 A T 6: 123,362,468 (GRCm39) L772Q probably damaging Het
Ypel3 A G 7: 126,379,200 (GRCm39) E91G probably benign Het
Zbtb21 C T 16: 97,751,569 (GRCm39) E905K possibly damaging Het
Zfp189 T A 4: 49,530,417 (GRCm39) C507S possibly 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
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'- TGCTGGACTGTGCACATAAAG -3'
(R):5'- TTTTAACTCATGCCAGACCCTG -3'

Sequencing Primer
(F):5'- GTGCACATAAAGAGCGCCCTG -3'
(R):5'- ACACTTGGAACGTGGAACTCCTG -3'
Posted On 2019-09-13