Incidental Mutation 'IGL02690:Rag2'
| ID |
303697 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rag2
|
| Ensembl Gene |
ENSMUSG00000032864 |
| Gene Name |
recombination activating gene 2 |
| Synonyms |
Rag-2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02690
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
101455063-101462874 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101459839 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 50
(I50L)
|
| 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 benign
Transcript: ENSMUST00000044031
AA Change: I50L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000038204
Gene: ENSMUSG00000032864
AA Change: I50L
| 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 benign
Transcript: ENSMUST00000111227
AA Change: I50L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000106858
Gene: ENSMUSG00000032864
AA Change: I50L
| 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: 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
T |
C |
17: 57,787,921 (GRCm39) |
V896A |
probably damaging |
Het |
| Ahnak |
C |
A |
19: 8,989,948 (GRCm39) |
S3744* |
probably null |
Het |
| Aldh7a1 |
A |
G |
18: 56,661,427 (GRCm39) |
|
probably benign |
Het |
| Ankk1 |
T |
A |
9: 49,333,200 (GRCm39) |
I95F |
probably damaging |
Het |
| Borcs8 |
C |
A |
8: 70,617,738 (GRCm39) |
A32D |
probably damaging |
Het |
| Ccn3 |
A |
G |
15: 54,611,198 (GRCm39) |
Y111C |
probably damaging |
Het |
| Cdh1 |
T |
A |
8: 107,384,516 (GRCm39) |
I328N |
probably damaging |
Het |
| Cebpz |
C |
T |
17: 79,229,986 (GRCm39) |
D856N |
probably damaging |
Het |
| Clip2 |
T |
A |
5: 134,539,013 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
C |
A |
4: 98,857,872 (GRCm39) |
V1451F |
possibly damaging |
Het |
| Edem3 |
T |
G |
1: 151,680,550 (GRCm39) |
C558W |
probably damaging |
Het |
| Eif3f |
T |
C |
7: 108,533,925 (GRCm39) |
V96A |
probably damaging |
Het |
| Gen1 |
A |
G |
12: 11,291,576 (GRCm39) |
S738P |
probably damaging |
Het |
| Ipo8 |
A |
T |
6: 148,678,861 (GRCm39) |
S912R |
probably benign |
Het |
| Kcp |
G |
T |
6: 29,484,998 (GRCm39) |
|
probably benign |
Het |
| Larp7-ps |
T |
A |
4: 92,079,248 (GRCm39) |
D191V |
probably damaging |
Het |
| Lrrfip1 |
A |
G |
1: 90,981,383 (GRCm39) |
T2A |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,815,710 (GRCm39) |
E1198G |
possibly damaging |
Het |
| Maml1 |
A |
G |
11: 50,149,457 (GRCm39) |
L761P |
probably damaging |
Het |
| Mon2 |
T |
A |
10: 122,845,532 (GRCm39) |
E1392V |
possibly damaging |
Het |
| Nol12 |
A |
G |
15: 78,821,374 (GRCm39) |
E78G |
probably damaging |
Het |
| Or13c7b |
G |
A |
4: 43,821,190 (GRCm39) |
T57M |
possibly damaging |
Het |
| Or5k17 |
G |
A |
16: 58,746,214 (GRCm39) |
T240I |
possibly damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,167,273 (GRCm39) |
N267D |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Rsc1a1 |
A |
T |
4: 141,412,612 (GRCm39) |
V100D |
probably damaging |
Het |
| Rtp1 |
T |
C |
16: 23,250,132 (GRCm39) |
Y166H |
probably damaging |
Het |
| Scly |
A |
T |
1: 91,233,047 (GRCm39) |
T109S |
probably benign |
Het |
| Scn8a |
A |
T |
15: 100,868,135 (GRCm39) |
S327C |
probably damaging |
Het |
| Sgsm1 |
T |
C |
5: 113,434,633 (GRCm39) |
|
probably benign |
Het |
| Slc4a9 |
A |
G |
18: 36,665,040 (GRCm39) |
Y463C |
probably damaging |
Het |
| Speer1j |
C |
T |
5: 11,555,228 (GRCm39) |
Q66* |
probably null |
Het |
| Sptan1 |
A |
G |
2: 29,888,195 (GRCm39) |
M936V |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tbx20 |
T |
A |
9: 24,685,033 (GRCm39) |
N37Y |
probably benign |
Het |
| Tent4a |
T |
A |
13: 69,658,744 (GRCm39) |
M364L |
probably benign |
Het |
| Tex14 |
C |
T |
11: 87,377,100 (GRCm39) |
T148I |
probably benign |
Het |
| Ubxn7 |
A |
G |
16: 32,200,423 (GRCm39) |
E371G |
probably benign |
Het |
| Ugt2b35 |
T |
C |
5: 87,149,096 (GRCm39) |
F116L |
probably benign |
Het |
| Vmn2r111 |
C |
T |
17: 22,778,023 (GRCm39) |
|
probably null |
Het |
| Vmn2r26 |
T |
C |
6: 124,003,091 (GRCm39) |
L167P |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,917,288 (GRCm39) |
W3711R |
probably damaging |
Het |
| Wdr5 |
A |
T |
2: 27,424,840 (GRCm39) |
T326S |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation