Incidental Mutation 'R5236:Rag2'
ID 398345
Institutional Source Beutler Lab
Gene Symbol Rag2
Ensembl Gene ENSMUSG00000032864
Gene Name recombination activating gene 2
Synonyms Rag-2
MMRRC Submission 044393-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5236 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 101455063-101462874 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101460005 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 105 (D105V)
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: D105V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038204
Gene: ENSMUSG00000032864
AA Change: D105V

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: D105V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106858
Gene: ENSMUSG00000032864
AA Change: D105V

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: ENSMUST00000177007
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177171
Predicted Effect probably benign
Transcript: ENSMUST00000160722
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.4%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik T A 9: 101,820,120 (GRCm39) I180N possibly damaging Het
Actl9 T C 17: 33,653,073 (GRCm39) S378P probably damaging Het
Agrn A T 4: 156,263,315 (GRCm39) C263S possibly damaging Het
Ahnak A G 19: 8,978,048 (GRCm39) I56V possibly damaging Het
Arid4b A G 13: 14,301,034 (GRCm39) probably null Het
Bin2 T C 15: 100,560,415 (GRCm39) N49D probably damaging Het
Ccdc39 T C 3: 33,884,251 (GRCm39) T364A probably damaging Het
Cdcp1 A T 9: 123,014,258 (GRCm39) V172D probably damaging Het
Cdh23 A G 10: 60,148,351 (GRCm39) L2670P probably damaging Het
Cmtm4 G C 8: 105,084,378 (GRCm39) F105L probably damaging Het
Cspg4b A G 13: 113,502,754 (GRCm39) Y153C probably benign Het
Ctsa G A 2: 164,680,831 (GRCm39) V453M probably damaging Het
Cyp3a59 A G 5: 146,039,635 (GRCm39) I303V probably benign Het
Cyp4f17 T C 17: 32,739,606 (GRCm39) probably null Het
Dst C T 1: 34,203,498 (GRCm39) R447C probably damaging Het
E2f7 C T 10: 110,603,070 (GRCm39) P362S probably damaging Het
Fbxw9 A G 8: 85,792,974 (GRCm39) T407A probably damaging Het
Fyb2 T C 4: 104,805,957 (GRCm39) S346P probably benign Het
Git2 T A 5: 114,905,233 (GRCm39) I75L probably damaging Het
H2-DMa T A 17: 34,356,913 (GRCm39) L137Q probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hrg T C 16: 22,780,263 (GRCm39) probably benign Het
Htr7 A T 19: 36,034,169 (GRCm39) I162N probably damaging Het
Itpripl1 A T 2: 126,983,770 (GRCm39) F117L probably damaging Het
Kri1 T C 9: 21,187,237 (GRCm39) Y392C probably damaging Het
Krt27 A C 11: 99,241,641 (GRCm39) S87A possibly damaging Het
Lama1 T C 17: 68,111,487 (GRCm39) V2246A probably benign Het
Lcn2 A T 2: 32,275,973 (GRCm39) M119K probably benign Het
Lrp2 T C 2: 69,287,163 (GRCm39) probably null Het
Lrp6 T C 6: 134,488,227 (GRCm39) N290D probably damaging Het
Macf1 T C 4: 123,291,614 (GRCm39) E2517G probably damaging Het
Melk G A 4: 44,344,959 (GRCm39) C363Y probably benign Het
Mettl22 T A 16: 8,306,597 (GRCm39) L351* probably null Het
Mms22l A G 4: 24,588,347 (GRCm39) Q953R probably benign Het
Ndufaf7 T C 17: 79,247,060 (GRCm39) S107P probably benign Het
Opa3 A G 7: 18,978,682 (GRCm39) Y49C probably damaging Het
Or2a12 A C 6: 42,904,715 (GRCm39) R183S probably benign Het
Or9a2 C A 6: 41,749,045 (GRCm39) G63C probably benign Het
Pabpn1 T A 14: 55,132,399 (GRCm39) M145K possibly damaging Het
Plce1 A C 19: 38,758,791 (GRCm39) M1982L probably benign Het
Ppcdc A C 9: 57,321,937 (GRCm39) I201S probably benign Het
Rnf130 C T 11: 49,986,805 (GRCm39) T383I probably damaging Het
Sgip1 T G 4: 102,784,784 (GRCm39) probably null Het
Slc23a2 T A 2: 131,917,504 (GRCm39) I245F probably damaging Het
Slc4a9 A G 18: 36,663,900 (GRCm39) Y308C probably benign Het
Slc7a15 C T 12: 8,589,005 (GRCm39) V181M probably benign Het
Sprr2b G A 3: 92,224,943 (GRCm39) C63Y unknown Het
Stpg2 A T 3: 138,937,984 (GRCm39) Y181F probably damaging Het
Sult2a5 A T 7: 13,398,974 (GRCm39) T194S probably benign Het
Tbx15 A T 3: 99,259,362 (GRCm39) Q411L possibly damaging Het
Tln2 T A 9: 67,273,205 (GRCm39) E427V probably damaging Het
Trpv4 A C 5: 114,760,856 (GRCm39) V825G possibly damaging Het
Trrap A G 5: 144,754,596 (GRCm39) I1968V probably benign Het
Ttn G A 2: 76,619,146 (GRCm39) L16078F probably damaging Het
Unc45b T A 11: 82,805,888 (GRCm39) F132I possibly damaging Het
Unc79 T A 12: 103,060,654 (GRCm39) probably null Het
Vmn2r71 A T 7: 85,272,877 (GRCm39) N564Y probably damaging Het
Zfp638 G T 6: 83,953,557 (GRCm39) E1221* probably null Het
Zfp934 A T 13: 62,665,527 (GRCm39) H371Q probably damaging Het
Zranb3 A G 1: 127,968,726 (GRCm39) L63P probably 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
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
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
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'- AGTTTTCTTCTTTGGCCAGAAAGG -3'
(R):5'- GCATGTATGAACGTCCTCCAAAG -3'

Sequencing Primer
(F):5'- GCCTAAGAGATCCTGTCCTACTGG -3'
(R):5'- TGTATGAACGTCCTCCAAAGAGAAC -3'
Posted On 2016-07-06