Incidental Mutation 'IGL03261:Rag2'
ID 414810
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rag2
Ensembl Gene ENSMUSG00000032864
Gene Name recombination activating gene 2
Synonyms Rag-2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03261
Quality Score
Status
Chromosome 2
Chromosomal Location 101455063-101462874 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101460608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 306 (D306G)
Ref Sequence ENSEMBL: ENSMUSP00000106858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044031] [ENSMUST00000099682] [ENSMUST00000111227] [ENSMUST00000111231] [ENSMUST00000128898] [ENSMUST00000160037] [ENSMUST00000160722]
AlphaFold P21784
Predicted Effect probably damaging
Transcript: ENSMUST00000044031
AA Change: D306G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000038204
Gene: ENSMUSG00000032864
AA Change: D306G

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: D306G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106858
Gene: ENSMUSG00000032864
AA Change: D306G

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 noncoding transcript
Transcript: ENSMUST00000177171
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177007
Predicted Effect probably benign
Transcript: ENSMUST00000160722
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik T G 7: 27,279,863 (GRCm39) Y281* probably null Het
Adamts3 T C 5: 90,030,756 (GRCm39) probably benign Het
Afp T C 5: 90,639,610 (GRCm39) probably null Het
Ap1g2 T C 14: 55,337,987 (GRCm39) T634A probably benign Het
Cidec A G 6: 113,410,133 (GRCm39) V32A probably benign Het
Dip2a G A 10: 76,140,982 (GRCm39) P315S possibly damaging Het
Hoxc11 T C 15: 102,863,178 (GRCm39) V73A probably benign Het
Jmjd1c A G 10: 67,067,849 (GRCm39) Y1784C probably damaging Het
Mmp21 A G 7: 133,276,403 (GRCm39) V480A probably benign Het
Nek4 C T 14: 30,697,247 (GRCm39) T471I probably benign Het
Nr4a2 A G 2: 57,000,199 (GRCm39) V299A probably benign Het
Or14j8 A T 17: 38,263,697 (GRCm39) S73T possibly damaging Het
Or6c5 A G 10: 129,074,272 (GRCm39) T85A possibly damaging Het
Ptprg A G 14: 12,225,552 (GRCm38) D505G probably damaging Het
Rpap2 T A 5: 107,746,426 (GRCm39) S38T possibly damaging Het
Scart2 A G 7: 139,874,746 (GRCm39) H408R probably benign Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Slx4ip A T 2: 136,888,659 (GRCm39) R113S probably benign Het
Smyd5 T A 6: 85,409,000 (GRCm39) M5K probably benign Het
Stkld1 A T 2: 26,842,789 (GRCm39) H587L probably benign Het
Taf4b A G 18: 14,954,585 (GRCm39) T554A probably benign Het
Tex16 C A X: 111,028,552 (GRCm39) D350E possibly damaging Het
Tex38 T C 4: 115,637,723 (GRCm39) K27E possibly damaging Het
Trdv4 T C 14: 54,312,875 (GRCm39) L83P possibly damaging Het
Ugt2a3 G A 5: 87,484,439 (GRCm39) P195L probably damaging Het
Vmn1r120 A G 7: 20,787,450 (GRCm39) L87P probably damaging Het
Zfp236 T C 18: 82,648,733 (GRCm39) D916G possibly damaging Het
Other mutations in Rag2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00647:Rag2 APN 2 101,460,962 (GRCm39) missense probably benign 0.00
IGL01358:Rag2 APN 2 101,460,365 (GRCm39) missense possibly damaging 0.95
IGL01774:Rag2 APN 2 101,460,392 (GRCm39) missense probably damaging 1.00
IGL02267:Rag2 APN 2 101,460,376 (GRCm39) missense probably damaging 1.00
IGL02507:Rag2 APN 2 101,461,055 (GRCm39) missense probably damaging 0.99
IGL02615:Rag2 APN 2 101,459,913 (GRCm39) nonsense probably null
IGL02690:Rag2 APN 2 101,459,839 (GRCm39) missense probably benign 0.00
IGL03087:Rag2 APN 2 101,460,559 (GRCm39) missense probably benign 0.00
billfold UTSW 2 101,461,118 (GRCm39) missense probably damaging 1.00
Brag UTSW 2 101,460,040 (GRCm39) missense probably damaging 1.00
excambiar UTSW 2 101,461,121 (GRCm39) missense probably damaging 0.99
picker UTSW 2 101,460,419 (GRCm39) missense probably damaging 1.00
snowcock UTSW 2 101,460,948 (GRCm39) missense probably damaging 1.00
woodcock UTSW 2 101,460,464 (GRCm39) missense probably damaging 0.98
R0266:Rag2 UTSW 2 101,460,948 (GRCm39) missense probably damaging 1.00
R0284:Rag2 UTSW 2 101,460,464 (GRCm39) missense probably damaging 0.98
R1250:Rag2 UTSW 2 101,460,784 (GRCm39) missense probably damaging 0.96
R1520:Rag2 UTSW 2 101,460,476 (GRCm39) missense probably damaging 0.99
R1641:Rag2 UTSW 2 101,459,960 (GRCm39) missense probably benign 0.22
R2260:Rag2 UTSW 2 101,460,583 (GRCm39) missense probably benign 0.00
R2571:Rag2 UTSW 2 101,460,312 (GRCm39) missense probably damaging 0.99
R3441:Rag2 UTSW 2 101,460,645 (GRCm39) missense probably damaging 0.99
R3752:Rag2 UTSW 2 101,461,121 (GRCm39) missense probably damaging 0.99
R4894:Rag2 UTSW 2 101,460,022 (GRCm39) missense probably damaging 1.00
R5197:Rag2 UTSW 2 101,461,085 (GRCm39) missense probably damaging 1.00
R5236:Rag2 UTSW 2 101,460,005 (GRCm39) missense probably damaging 1.00
R6815:Rag2 UTSW 2 101,460,900 (GRCm39) missense probably damaging 0.99
R7365:Rag2 UTSW 2 101,461,118 (GRCm39) missense probably damaging 1.00
R7917:Rag2 UTSW 2 101,460,040 (GRCm39) missense probably damaging 1.00
R9026:Rag2 UTSW 2 101,460,494 (GRCm39) missense possibly damaging 0.46
R9243:Rag2 UTSW 2 101,460,419 (GRCm39) missense probably damaging 1.00
R9280:Rag2 UTSW 2 101,460,145 (GRCm39) missense probably benign 0.05
R9333:Rag2 UTSW 2 101,460,752 (GRCm39) missense probably benign 0.01
R9500:Rag2 UTSW 2 101,461,217 (GRCm39) missense probably damaging 1.00
X0027:Rag2 UTSW 2 101,460,718 (GRCm39) missense probably damaging 1.00
Z31818:Rag2 UTSW 2 101,461,150 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02