Incidental Mutation 'IGL02267:Rag2'
ID286949
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rag2
Ensembl Gene ENSMUSG00000032864
Gene Namerecombination activating gene 2
SynonymsRag-2
Accession Numbers

MGI:97849

Is this an essential gene? Probably non essential (E-score: 0.204) question?
Stock #IGL02267
Quality Score
Status
Chromosome2
Chromosomal Location101624718-101632529 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 101630031 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 229 (R229C)
Ref Sequence ENSEMBL: ENSMUSP00000106858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044031] [ENSMUST00000099682] [ENSMUST00000111227] [ENSMUST00000111231] [ENSMUST00000128898] [ENSMUST00000160037] [ENSMUST00000160722]
Predicted Effect probably damaging
Transcript: ENSMUST00000044031
AA Change: R229C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038204
Gene: ENSMUSG00000032864
AA Change: R229C

DomainStartEndE-ValueType
Pfam:RAG2 51 389 3.5e-179 PFAM
Pfam:RAG2_PHD 414 491 7.2e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099682
Predicted Effect probably damaging
Transcript: ENSMUST00000111227
AA Change: R229C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106858
Gene: ENSMUSG00000032864
AA Change: R229C

DomainStartEndE-ValueType
Pfam:RAG2 51 389 6.7e-193 PFAM
Pfam:RAG2_PHD 414 491 1.1e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111231
Predicted Effect probably benign
Transcript: ENSMUST00000128898
Predicted Effect probably benign
Transcript: ENSMUST00000160037
Predicted Effect probably benign
Transcript: ENSMUST00000160722
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177007
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177171
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is involved in the initiation of V(D)J recombination during B and T cell development. This protein forms a complex with the product of the adjacent recombination activating gene 1, and this complex can form double-strand breaks by cleaving DNA at conserved recombination signal sequences. The recombination activating gene 1 component is thought to contain most of the catalytic activity, while the N-terminal of the recombination activating gene 2 component is thought to form a six-bladed propeller in the active core that serves as a binding scaffold for the tight association of the complex with DNA. A C-terminal plant homeodomain finger-like motif in this protein is necessary for interactions with chromatin components, specifically with histone H3 that is trimethylated at lysine 4. Mutations in this gene cause Omenn syndrome, a form of severe combined immunodeficiency associated with autoimmune-like symptoms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit arrested development of T and B cell maturation at the CD4-8- thymocyte or B220+/CD43+pro-B cell stage due to inability to undergo V(D)J recombination. [provided by MGI curators]
Allele List at MGI

All alleles(14) : Targeted(14)

Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 A G 11: 50,792,678 Q929R probably benign Het
Aplf A T 6: 87,658,964 D122E probably damaging Het
Atp2a3 T A 11: 72,987,984 L874Q probably damaging Het
Atp2b2 A T 6: 113,793,730 L406Q probably damaging Het
Atp6v1b1 A G 6: 83,756,909 D374G probably benign Het
Bcas1 T A 2: 170,378,788 R239* probably null Het
Bhmt2 A G 13: 93,669,346 V56A probably damaging Het
Cage1 T C 13: 38,023,257 E204G probably damaging Het
Ccdc157 G A 11: 4,144,035 A532V probably benign Het
Cd300lb G A 11: 114,928,477 R109* probably null Het
Clca4c-ps T C 3: 144,879,755 noncoding transcript Het
Ctnna3 G T 10: 64,945,998 V747F probably benign Het
Cyp2c29 A T 19: 39,330,422 I488F probably benign Het
Cyp3a25 T C 5: 145,998,552 M85V possibly damaging Het
Dnah7b T A 1: 46,226,930 Y2220N probably damaging Het
Espl1 A G 15: 102,315,664 I1217V probably benign Het
Exoc2 A G 13: 30,815,321 S918P probably benign Het
Fer1l4 T A 2: 156,031,252 I1303F possibly damaging Het
Gm28047 A T 15: 102,547,227 I234K probably damaging Het
Gm4951 T G 18: 60,246,398 V335G probably damaging Het
Gpcpd1 A G 2: 132,568,710 V19A probably damaging Het
Gprin3 A G 6: 59,354,473 V283A probably benign Het
Grb14 A G 2: 64,953,616 Y56H probably damaging Het
Greb1 A G 12: 16,717,208 F331S probably benign Het
Jkamp A G 12: 72,094,817 Y198C probably damaging Het
Klk1b11 G T 7: 43,999,741 C234F probably damaging Het
Nacad T C 11: 6,602,649 T181A probably benign Het
Olfr165 A T 16: 19,407,164 L285Q possibly damaging Het
Olfr382 A G 11: 73,516,549 S217P probably benign Het
Olfr987 T A 2: 85,331,121 Y259F probably damaging Het
Pitpnm3 A T 11: 72,071,448 I227N probably benign Het
Pnn A G 12: 59,070,209 E189G probably damaging Het
Pnpla2 C A 7: 141,458,209 P197T probably damaging Het
Pnpla6 A G 8: 3,517,327 T62A probably benign Het
Ptprq G T 10: 107,646,558 D1051E probably damaging Het
Serinc1 A T 10: 57,523,108 I196N probably damaging Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc26a9 T C 1: 131,752,845 C43R probably damaging Het
Slc2a3 A T 6: 122,739,972 Y44N probably benign Het
Smad5 T G 13: 56,735,790 probably benign Het
Sugct C A 13: 17,644,865 V132F possibly damaging Het
Supt6 T C 11: 78,226,204 E568G possibly damaging Het
Tfpt T C 7: 3,628,983 T43A probably damaging Het
Timp4 A T 6: 115,247,279 V143E possibly damaging Het
Tns1 T C 1: 73,992,131 D275G possibly damaging Het
Trib1 A G 15: 59,651,600 E161G probably damaging Het
Trpc7 A T 13: 56,860,930 L308Q probably damaging Het
Ush1c A T 7: 46,209,298 V522E possibly damaging Het
Usp28 T C 9: 49,023,965 V449A probably damaging Het
Vmn1r82 A G 7: 12,305,346 Y64C probably damaging Het
Wwox G A 8: 114,712,065 M290I probably benign Het
Other mutations in Rag2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00647:Rag2 APN 2 101630617 missense probably benign 0.00
IGL01358:Rag2 APN 2 101630020 missense possibly damaging 0.95
IGL01774:Rag2 APN 2 101630047 missense probably damaging 1.00
IGL02507:Rag2 APN 2 101630710 missense probably damaging 0.99
IGL02615:Rag2 APN 2 101629568 nonsense probably null
IGL02690:Rag2 APN 2 101629494 missense probably benign 0.00
IGL03087:Rag2 APN 2 101630214 missense probably benign 0.00
IGL03261:Rag2 APN 2 101630263 missense probably damaging 0.96
billfold UTSW 2 101630773 missense probably damaging 1.00
excambiar UTSW 2 101630776 missense probably damaging 0.99
snowcock UTSW 2 101630603 missense probably damaging 1.00
woodcock UTSW 2 101630119 missense probably damaging 0.98
R0266:Rag2 UTSW 2 101630603 missense probably damaging 1.00
R0284:Rag2 UTSW 2 101630119 missense probably damaging 0.98
R1250:Rag2 UTSW 2 101630439 missense probably damaging 0.96
R1520:Rag2 UTSW 2 101630131 missense probably damaging 0.99
R1641:Rag2 UTSW 2 101629615 missense probably benign 0.22
R2260:Rag2 UTSW 2 101630238 missense probably benign 0.00
R2571:Rag2 UTSW 2 101629967 missense probably damaging 0.99
R3441:Rag2 UTSW 2 101630300 missense probably damaging 0.99
R3752:Rag2 UTSW 2 101630776 missense probably damaging 0.99
R4894:Rag2 UTSW 2 101629677 missense probably damaging 1.00
R5197:Rag2 UTSW 2 101630740 missense probably damaging 1.00
R5236:Rag2 UTSW 2 101629660 missense probably damaging 1.00
R6815:Rag2 UTSW 2 101630555 missense probably damaging 0.99
R7365:Rag2 UTSW 2 101630773 missense probably damaging 1.00
X0027:Rag2 UTSW 2 101630373 missense probably damaging 1.00
Z31818:Rag2 UTSW 2 101630805 missense probably damaging 1.00
Posted On2015-04-16