Incidental Mutation 'R9243:Rag2'
| ID |
701082 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rag2
|
| Ensembl Gene |
ENSMUSG00000032864 |
| Gene Name |
recombination activating gene 2 |
| Synonyms |
Rag-2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9243 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
101455063-101462874 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 101460419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 243
(G243D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044031]
[ENSMUST00000099682]
[ENSMUST00000111227]
[ENSMUST00000111231]
[ENSMUST00000128898]
[ENSMUST00000160037]
[ENSMUST00000160722]
|
| AlphaFold |
P21784 |
| PDB Structure |
A PHD finger motif in the C-terminus of RAG2 modulates recombination activity [SOLUTION NMR]
Crystal structure of RAG2-PHD finger in complex with H3K4me3 peptide [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF RAG2-PHD FINGER IN COMPLEX WITH H3R2ME1K4ME3 PEPTIDE [X-RAY DIFFRACTION]
Crystal structure of RAG2-PHD finger in complex with H3R2me2aK4me3 peptide [X-RAY DIFFRACTION]
Crystal structure of RAG2-PHD finger in complex with H3R2me2sK4me3 peptide [X-RAY DIFFRACTION]
Crystal structure of RAG2-PHD finger in complex with H3R2me2sK4me2 peptide [X-RAY DIFFRACTION]
Crystal structure of RAG2-PHD finger in complex with H3K4me3 peptide at 1.1A resolution [X-RAY DIFFRACTION]
Crystal structure of the core RAG1/2 recombinase [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044031
AA Change: G243D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038204
Gene: ENSMUSG00000032864
AA Change: G243D
| 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: G243D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106858
Gene: ENSMUSG00000032864
AA Change: G243D
| 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 |
probably benign
Transcript: ENSMUST00000160722
|
| Meta Mutation Damage Score |
0.8848 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
96% (51/53) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
T |
A |
12: 53,188,035 (GRCm39) |
S1816R |
probably benign |
Het |
| Appl1 |
A |
T |
14: 26,649,710 (GRCm39) |
F605L |
possibly damaging |
Het |
| Cacna1g |
T |
A |
11: 94,347,893 (GRCm39) |
I732F |
possibly damaging |
Het |
| Capg |
T |
A |
6: 72,538,070 (GRCm39) |
S319T |
probably benign |
Het |
| Cdh17 |
T |
A |
4: 11,771,333 (GRCm39) |
F38L |
probably benign |
Het |
| Cep295 |
T |
A |
9: 15,243,605 (GRCm39) |
N1617I |
probably benign |
Het |
| Cep57 |
C |
T |
9: 13,738,204 (GRCm39) |
|
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,195,265 (GRCm39) |
|
probably benign |
Het |
| Csnk1g2 |
C |
A |
10: 80,475,648 (GRCm39) |
A405E |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 98,857,871 (GRCm39) |
V1481A |
unknown |
Het |
| Exoc2 |
T |
C |
13: 31,109,778 (GRCm39) |
K197E |
probably benign |
Het |
| Fancg |
C |
T |
4: 43,006,565 (GRCm39) |
V330I |
possibly damaging |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Gad2 |
A |
G |
2: 22,525,053 (GRCm39) |
E279G |
possibly damaging |
Het |
| Gria1 |
A |
G |
11: 57,128,888 (GRCm39) |
Y454C |
probably benign |
Het |
| Grik3 |
C |
T |
4: 125,601,690 (GRCm39) |
R856C |
probably benign |
Het |
| Hdac4 |
C |
A |
1: 91,900,511 (GRCm39) |
R622I |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,900,512 (GRCm39) |
R622G |
probably benign |
Het |
| Htt |
T |
C |
5: 35,056,276 (GRCm39) |
|
probably benign |
Het |
| Idh1 |
A |
G |
1: 65,207,656 (GRCm39) |
|
probably null |
Het |
| Igf1r |
A |
G |
7: 67,861,775 (GRCm39) |
S1112G |
probably benign |
Het |
| Impg2 |
A |
T |
16: 56,051,823 (GRCm39) |
S242C |
probably damaging |
Het |
| Itgb1 |
T |
A |
8: 129,433,587 (GRCm39) |
S34T |
probably benign |
Het |
| Kcnh8 |
A |
G |
17: 53,205,542 (GRCm39) |
I546V |
probably damaging |
Het |
| Klrd1 |
T |
G |
6: 129,568,795 (GRCm39) |
M1R |
probably null |
Het |
| Krtap16-1 |
A |
T |
11: 99,876,644 (GRCm39) |
C253* |
probably null |
Het |
| Mapk7 |
A |
G |
11: 61,384,535 (GRCm39) |
I57T |
possibly damaging |
Het |
| Msrb2 |
A |
G |
2: 19,388,073 (GRCm39) |
N74D |
probably benign |
Het |
| Myd88 |
A |
T |
9: 119,168,773 (GRCm39) |
S85T |
probably benign |
Het |
| Myo1c |
G |
T |
11: 75,541,437 (GRCm39) |
|
probably benign |
Het |
| Nnt |
T |
A |
13: 119,494,060 (GRCm39) |
N674Y |
unknown |
Het |
| Nrcam |
A |
G |
12: 44,620,607 (GRCm39) |
Y878C |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,023,392 (GRCm39) |
T662A |
probably benign |
Het |
| Or14j4 |
T |
C |
17: 37,921,408 (GRCm39) |
Q78R |
probably benign |
Het |
| Or4l15 |
A |
G |
14: 50,197,881 (GRCm39) |
V216A |
probably benign |
Het |
| Or51ah3 |
A |
G |
7: 103,209,782 (GRCm39) |
S33G |
probably benign |
Het |
| Or8k40 |
A |
G |
2: 86,584,282 (GRCm39) |
S267P |
possibly damaging |
Het |
| Pappa2 |
C |
A |
1: 158,763,763 (GRCm39) |
V583L |
probably damaging |
Het |
| Parp1 |
T |
G |
1: 180,415,680 (GRCm39) |
S500A |
probably benign |
Het |
| Pcdhb17 |
A |
G |
18: 37,619,989 (GRCm39) |
D593G |
probably damaging |
Het |
| Pex19 |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
1: 171,956,150 (GRCm39) |
|
probably null |
Het |
| Prrc1 |
C |
G |
18: 57,496,271 (GRCm39) |
S74W |
possibly damaging |
Het |
| Sgpp1 |
T |
C |
12: 75,781,961 (GRCm39) |
E126G |
probably damaging |
Het |
| Skic2 |
G |
A |
17: 35,064,198 (GRCm39) |
T496M |
probably benign |
Het |
| Slc17a1 |
C |
A |
13: 24,064,432 (GRCm39) |
F329L |
probably benign |
Het |
| Slc52a3 |
G |
A |
2: 151,846,512 (GRCm39) |
V158I |
probably benign |
Het |
| Slf1 |
T |
A |
13: 77,273,575 (GRCm39) |
T75S |
possibly damaging |
Het |
| Smok2b |
G |
A |
17: 13,453,637 (GRCm39) |
|
probably null |
Het |
| Tmem125 |
A |
T |
4: 118,399,089 (GRCm39) |
V114E |
probably damaging |
Het |
| Ube2f |
A |
T |
1: 91,181,980 (GRCm39) |
|
probably benign |
Het |
| Zdhhc19 |
T |
A |
16: 32,315,992 (GRCm39) |
F30I |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,662,050 (GRCm39) |
|
probably benign |
Het |
| Zfp462 |
C |
A |
4: 55,009,595 (GRCm39) |
Y520* |
probably null |
Het |
| Zzz3 |
A |
G |
3: 152,133,920 (GRCm39) |
D326G |
probably damaging |
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 |
|
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 |
|
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'- TAGTGTAGCTGACTGCCTACC -3'
(R):5'- GTCAGGAGTCTCCATCTCACTG -3'
Sequencing Primer
(F):5'- GTAGCTGACTGCCTACCCCATG -3'
(R):5'- GATTTCAATCGTGTTGTCCCCTAGAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation