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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |