Incidental Mutation 'R5197:Rag2'
ID |
400315 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rag2
|
Ensembl Gene |
ENSMUSG00000032864 |
Gene Name |
recombination activating gene 2 |
Synonyms |
Rag-2 |
MMRRC Submission |
042773-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5197 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
101455063-101462874 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 101461085 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 465
(T465K)
|
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: T465K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000038204 Gene: ENSMUSG00000032864 AA Change: T465K
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: T465K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000106858 Gene: ENSMUSG00000032864 AA Change: T465K
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177171
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177007
|
Meta Mutation Damage Score |
0.3691 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
99% (67/68) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg1 |
T |
C |
9: 54,529,866 (GRCm39) |
E247G |
possibly damaging |
Het |
Adgra3 |
A |
G |
5: 50,118,096 (GRCm39) |
F1151L |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Aldh4a1 |
A |
C |
4: 139,375,612 (GRCm39) |
|
probably benign |
Het |
Anln |
A |
T |
9: 22,264,077 (GRCm39) |
|
probably null |
Het |
Aste1 |
T |
C |
9: 105,282,253 (GRCm39) |
S74P |
probably damaging |
Het |
Atp6v0e2 |
G |
A |
6: 48,517,051 (GRCm39) |
R77H |
probably benign |
Het |
Brpf1 |
A |
G |
6: 113,296,902 (GRCm39) |
D962G |
possibly damaging |
Het |
Btbd2 |
T |
C |
10: 80,482,253 (GRCm39) |
D249G |
probably damaging |
Het |
Catsper3 |
T |
C |
13: 55,955,989 (GRCm39) |
|
probably null |
Het |
Cfap43 |
A |
G |
19: 47,885,811 (GRCm39) |
L268P |
probably damaging |
Het |
Cftr |
T |
C |
6: 18,255,413 (GRCm39) |
V540A |
probably benign |
Het |
Col22a1 |
C |
T |
15: 71,881,255 (GRCm39) |
G32D |
probably damaging |
Het |
Col5a2 |
G |
T |
1: 45,432,241 (GRCm39) |
P804Q |
probably benign |
Het |
Cyp2d41-ps |
A |
G |
15: 82,662,981 (GRCm39) |
|
noncoding transcript |
Het |
Cyp39a1 |
T |
G |
17: 44,057,429 (GRCm39) |
L423V |
possibly damaging |
Het |
Elmo1 |
T |
G |
13: 20,748,607 (GRCm39) |
V484G |
probably benign |
Het |
Eps8 |
C |
A |
6: 137,467,288 (GRCm39) |
Q656H |
probably damaging |
Het |
Eps8 |
T |
C |
6: 137,467,289 (GRCm39) |
Q656R |
possibly damaging |
Het |
Fshb |
T |
C |
2: 106,887,854 (GRCm39) |
D55G |
possibly damaging |
Het |
Garin1a |
G |
T |
6: 29,281,221 (GRCm39) |
|
probably benign |
Het |
H3c4 |
T |
A |
13: 23,760,304 (GRCm39) |
L110Q |
probably damaging |
Het |
Herc1 |
C |
A |
9: 66,355,786 (GRCm39) |
Q2346K |
probably damaging |
Het |
Htr3b |
T |
C |
9: 48,856,815 (GRCm39) |
D221G |
probably benign |
Het |
Ift74 |
T |
A |
4: 94,550,833 (GRCm39) |
D328E |
probably benign |
Het |
Kif21b |
A |
T |
1: 136,072,363 (GRCm39) |
K23M |
probably damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lipc |
T |
A |
9: 70,705,673 (GRCm39) |
E470V |
probably benign |
Het |
Lrrc4 |
G |
T |
6: 28,830,142 (GRCm39) |
T68K |
probably damaging |
Het |
Lrrc63 |
T |
A |
14: 75,322,322 (GRCm39) |
H594L |
possibly damaging |
Het |
Mfsd14a |
A |
T |
3: 116,442,150 (GRCm39) |
|
probably benign |
Het |
Mob2 |
T |
C |
7: 141,563,274 (GRCm39) |
|
probably null |
Het |
Nckap5 |
T |
A |
1: 126,150,410 (GRCm39) |
H105L |
possibly damaging |
Het |
Ngef |
C |
A |
1: 87,437,090 (GRCm39) |
G133* |
probably null |
Het |
Or14j2 |
T |
G |
17: 37,886,111 (GRCm39) |
I68L |
probably benign |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or2t1 |
T |
A |
14: 14,328,462 (GRCm38) |
M117K |
probably damaging |
Het |
Or52s1 |
G |
A |
7: 102,861,207 (GRCm39) |
V47I |
probably benign |
Het |
Or5b120 |
G |
T |
19: 13,479,748 (GRCm39) |
V14F |
possibly damaging |
Het |
Or5g23 |
T |
C |
2: 85,438,791 (GRCm39) |
I154M |
probably benign |
Het |
Pard3 |
A |
G |
8: 127,800,040 (GRCm39) |
|
probably null |
Het |
Pgm2 |
C |
T |
5: 64,263,175 (GRCm39) |
A274V |
possibly damaging |
Het |
Ppp1r9a |
T |
A |
6: 5,156,177 (GRCm39) |
S1144R |
probably damaging |
Het |
Pramel23 |
A |
C |
4: 143,424,632 (GRCm39) |
C270W |
possibly damaging |
Het |
Prkcq |
C |
T |
2: 11,304,227 (GRCm39) |
P590L |
probably damaging |
Het |
Psmd13 |
T |
A |
7: 140,474,374 (GRCm39) |
|
probably null |
Het |
Rab3gap1 |
T |
A |
1: 127,816,931 (GRCm39) |
D63E |
probably benign |
Het |
Rnase6 |
A |
G |
14: 51,367,670 (GRCm39) |
M21V |
unknown |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,653,316 (GRCm39) |
|
probably null |
Het |
Sash1 |
T |
G |
10: 8,615,989 (GRCm39) |
R624S |
probably damaging |
Het |
Slc1a2 |
A |
G |
2: 102,586,460 (GRCm39) |
I355V |
probably benign |
Het |
Srrm2 |
T |
C |
17: 24,036,358 (GRCm39) |
S1097P |
probably benign |
Het |
Sugct |
C |
T |
13: 17,497,861 (GRCm39) |
A271T |
probably damaging |
Het |
Tdrd7 |
T |
C |
4: 46,034,350 (GRCm39) |
V1065A |
probably damaging |
Het |
Tmprss6 |
T |
A |
15: 78,338,389 (GRCm39) |
Y307F |
probably damaging |
Het |
Tram1 |
T |
C |
1: 13,642,126 (GRCm39) |
N216S |
probably benign |
Het |
Ttk |
T |
C |
9: 83,721,394 (GRCm39) |
V93A |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,195,408 (GRCm39) |
Y1210C |
probably damaging |
Het |
Wdr7 |
A |
G |
18: 63,871,937 (GRCm39) |
K364E |
probably benign |
Het |
Xrcc2 |
G |
T |
5: 25,897,656 (GRCm39) |
H98N |
probably benign |
Het |
Zdhhc11 |
A |
G |
13: 74,113,688 (GRCm39) |
I77V |
probably benign |
Het |
Zfp54 |
C |
T |
17: 21,654,442 (GRCm39) |
S312L |
probably benign |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
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 |
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'- ATGAAGATGACGAGTCTGTAACC -3'
(R):5'- AATATACCTGAGTCTGAGGGGC -3'
Sequencing Primer
(F):5'- GTCTGTAACCGGCTACTGGATAAC -3'
(R):5'- CTGAGGGGCTTTTGCTAAATTAATC -3'
|
Posted On |
2016-07-06 |