Incidental Mutation 'IGL02507:Rag2'
ID296377
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: 0.216) question?
Stock #IGL02507
Quality Score
Status
Chromosome2
Chromosomal Location101624718-101632529 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 101630710 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 455 (H455L)
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: H455L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038204
Gene: ENSMUSG00000032864
AA Change: H455L

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: H455L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106858
Gene: ENSMUSG00000032864
AA Change: H455L

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700023F06Rik T A 11: 103,199,449 Q287L probably damaging Het
Abca13 A G 11: 9,399,388 Y3654C probably damaging Het
Aldh1l2 A C 10: 83,492,584 Y756* probably null Het
Arhgef12 T C 9: 42,992,563 E733G probably damaging Het
Art5 A T 7: 102,099,492 M1K probably null Het
Atp1a2 A T 1: 172,285,771 D448E probably damaging Het
Atp6v1b1 C T 6: 83,756,855 T356I possibly damaging Het
Celsr1 A G 15: 85,900,688 probably benign Het
Cep89 A G 7: 35,435,565 Y686C probably damaging Het
Cgrrf1 T A 14: 46,853,444 Y212* probably null Het
Chrnb1 T C 11: 69,785,090 Y442C probably damaging Het
Clcn1 T C 6: 42,307,073 probably benign Het
Clcn7 G A 17: 25,144,469 V40M probably damaging Het
Cntn1 A G 15: 92,250,979 Y369C possibly damaging Het
Csmd1 T C 8: 17,534,976 probably benign Het
Dpy19l2 A T 9: 24,631,267 C446S probably benign Het
Edem3 G A 1: 151,811,656 E782K probably benign Het
Ephb3 T A 16: 21,220,639 probably benign Het
Fndc4 T C 5: 31,294,746 D109G probably damaging Het
Fras1 T C 5: 96,657,408 V1303A possibly damaging Het
Gcn1l1 T C 5: 115,585,881 L532P probably benign Het
Gm5150 A G 3: 15,963,321 L262P probably damaging Het
Hbb-bs T C 7: 103,827,884 probably benign Het
Krt74 A G 15: 101,760,624 noncoding transcript Het
Myo1a T C 10: 127,712,609 V375A probably damaging Het
Nup160 A T 2: 90,729,735 Q1268L probably benign Het
Olfr1155 G A 2: 87,942,918 R237* probably null Het
Olfr1290 G A 2: 111,489,423 T245M possibly damaging Het
Olfr1412 T C 1: 92,588,926 S199P possibly damaging Het
Olfr610 G T 7: 103,506,718 S76* probably null Het
Pan3 T C 5: 147,526,596 S497P probably damaging Het
Pex5 T C 6: 124,413,305 T138A probably benign Het
Pik3ap1 A G 19: 41,282,012 probably benign Het
Ptchd4 A T 17: 42,316,873 H75L possibly damaging Het
Rergl T A 6: 139,493,353 E159V probably damaging Het
Rrn3 A G 16: 13,788,857 N109S probably benign Het
Scn1a A T 2: 66,277,813 V1523D probably damaging Het
Sec23a A G 12: 59,007,098 V38A probably benign Het
Slc15a2 G A 16: 36,781,659 T92M possibly damaging Het
Slc2a2 A G 3: 28,727,111 T433A probably benign Het
Sptan1 A G 2: 30,016,055 D1671G probably damaging Het
Stab1 A G 14: 31,139,210 probably benign Het
Stau2 A T 1: 16,486,069 I22N possibly damaging Het
Strn3 A T 12: 51,661,627 Y123* probably null Het
Tmem205 A G 9: 21,926,311 V13A possibly damaging Het
Trub1 G A 19: 57,483,577 probably benign Het
Ttn A G 2: 76,738,355 V27398A possibly damaging Het
Vill A G 9: 119,070,777 E343G possibly damaging Het
Zgpat T C 2: 181,366,236 F189L probably damaging 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
IGL02267:Rag2 APN 2 101630031 missense probably damaging 1.00
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
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