Incidental Mutation 'R3441:Rag2'
ID 267370
Institutional Source Beutler Lab
Gene Symbol Rag2
Ensembl Gene ENSMUSG00000032864
Gene Name recombination activating gene 2
Synonyms Rag-2
MMRRC Submission 040659-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3441 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 101455063-101462874 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101460645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 318 (F318L)
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: F318L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038204
Gene: ENSMUSG00000032864
AA Change: F318L

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: F318L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106858
Gene: ENSMUSG00000032864
AA Change: F318L

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
Meta Mutation Damage Score 0.9332 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (34/35)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T C 8: 25,170,759 (GRCm39) probably benign Het
Ap5b1 A G 19: 5,620,011 (GRCm39) H477R probably benign Het
Asz1 A C 6: 18,108,405 (GRCm39) S68A probably benign Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Btnl6 T C 17: 34,727,292 (GRCm39) K413E probably benign Het
Cav3 G A 6: 112,449,402 (GRCm39) C140Y possibly damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cfap91 T C 16: 38,154,168 (GRCm39) M126V probably benign Het
Clrn3 A C 7: 135,115,854 (GRCm39) Y165* probably null Het
Cp A T 3: 20,029,121 (GRCm39) M533L probably benign Het
Cyba C T 8: 123,151,803 (GRCm39) W103* probably null Het
Epha4 G T 1: 77,403,333 (GRCm39) N95K possibly damaging Het
Fsip2 A G 2: 82,817,071 (GRCm39) N4268S probably benign Het
Glb1l2 C T 9: 26,692,038 (GRCm39) A74T probably damaging Het
Gtf3c6 T A 10: 40,127,169 (GRCm39) E123V probably null Het
Htr3b T C 9: 48,856,815 (GRCm39) D221G probably benign Het
Hyal6 C T 6: 24,734,592 (GRCm39) A175V probably benign Het
Kif1a C T 1: 92,964,575 (GRCm39) D1334N possibly damaging Het
Krtap24-1 T C 16: 88,408,713 (GRCm39) T138A probably damaging Het
Mrc2 A T 11: 105,238,542 (GRCm39) T1230S possibly damaging Het
Mx1 T A 16: 97,257,431 (GRCm39) I109F probably damaging Het
Nav3 A G 10: 109,540,789 (GRCm39) F1947S probably benign Het
Or12e1 A G 2: 87,022,162 (GRCm39) I44V probably benign Het
Or6k2 A T 1: 173,986,746 (GRCm39) M136L probably benign Het
Plxnc1 G A 10: 94,706,872 (GRCm39) T555I probably benign Het
Rab21 CCCGCCGCCGCCGCCGCC CCCGCCGCCGCCGCC 10: 115,151,214 (GRCm39) probably benign Het
Scgb2b24 G T 7: 33,438,025 (GRCm39) F27L probably damaging Het
Tchh A T 3: 93,352,414 (GRCm39) D618V unknown Het
Teddm1b A G 1: 153,751,007 (GRCm39) E272G probably benign Het
Tenm4 A T 7: 96,202,723 (GRCm39) M88L probably benign Het
Tfpi2 A T 6: 3,965,504 (GRCm39) Y103N probably benign Het
Tmem98 A G 11: 80,705,125 (GRCm39) N71S probably damaging Het
Vmn1r181 A G 7: 23,684,308 (GRCm39) I258V probably benign 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
IGL03261:Rag2 APN 2 101,460,608 (GRCm39) missense probably damaging 0.96
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
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
Predicted Primers PCR Primer
(F):5'- GTGAATTGCACAGTCTTGCC -3'
(R):5'- CTTCAAAGGGAGTGGAGTCC -3'

Sequencing Primer
(F):5'- ACAGTCTTGCCAGGAGGAATCTC -3'
(R):5'- TGGAGTCCCCAGGATCTTCTG -3'
Posted On 2015-02-18