Incidental Mutation 'IGL02267:Rag2'
| ID |
286949 |
| 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 # |
IGL02267
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
101455063-101462874 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 101460376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 229
(R229C)
|
| 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: R229C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038204
Gene: ENSMUSG00000032864
AA Change: R229C
| 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: R229C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106858
Gene: ENSMUSG00000032864
AA Change: R229C
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
A |
G |
11: 50,683,505 (GRCm39) |
Q929R |
probably benign |
Het |
| Aplf |
A |
T |
6: 87,635,946 (GRCm39) |
D122E |
probably damaging |
Het |
| Atp2a3 |
T |
A |
11: 72,878,810 (GRCm39) |
L874Q |
probably damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,770,691 (GRCm39) |
L406Q |
probably damaging |
Het |
| Atp6v1b1 |
A |
G |
6: 83,733,891 (GRCm39) |
D374G |
probably benign |
Het |
| Bcas1 |
T |
A |
2: 170,220,708 (GRCm39) |
R239* |
probably null |
Het |
| Bhmt2 |
A |
G |
13: 93,805,854 (GRCm39) |
V56A |
probably damaging |
Het |
| Cage1 |
T |
C |
13: 38,207,233 (GRCm39) |
E204G |
probably damaging |
Het |
| Ccdc157 |
G |
A |
11: 4,094,035 (GRCm39) |
A532V |
probably benign |
Het |
| Cd300lb |
G |
A |
11: 114,819,303 (GRCm39) |
R109* |
probably null |
Het |
| Clca4c-ps |
T |
C |
3: 144,585,516 (GRCm39) |
|
noncoding transcript |
Het |
| Ctnna3 |
G |
T |
10: 64,781,777 (GRCm39) |
V747F |
probably benign |
Het |
| Cyp2c29 |
A |
T |
19: 39,318,866 (GRCm39) |
I488F |
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,935,362 (GRCm39) |
M85V |
possibly damaging |
Het |
| Dnah7b |
T |
A |
1: 46,266,090 (GRCm39) |
Y2220N |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,224,099 (GRCm39) |
I1217V |
probably benign |
Het |
| Exoc2 |
A |
G |
13: 30,999,304 (GRCm39) |
S918P |
probably benign |
Het |
| Fer1l4 |
T |
A |
2: 155,873,172 (GRCm39) |
I1303F |
possibly damaging |
Het |
| Gm28047 |
A |
T |
15: 102,455,662 (GRCm39) |
I234K |
probably damaging |
Het |
| Gpcpd1 |
A |
G |
2: 132,410,630 (GRCm39) |
V19A |
probably damaging |
Het |
| Gprin3 |
A |
G |
6: 59,331,458 (GRCm39) |
V283A |
probably benign |
Het |
| Grb14 |
A |
G |
2: 64,783,960 (GRCm39) |
Y56H |
probably damaging |
Het |
| Greb1 |
A |
G |
12: 16,767,209 (GRCm39) |
F331S |
probably benign |
Het |
| Iigp1c |
T |
G |
18: 60,379,470 (GRCm39) |
V335G |
probably damaging |
Het |
| Jkamp |
A |
G |
12: 72,141,591 (GRCm39) |
Y198C |
probably damaging |
Het |
| Klk1b11 |
G |
T |
7: 43,649,165 (GRCm39) |
C234F |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,552,649 (GRCm39) |
T181A |
probably benign |
Het |
| Or1e23 |
A |
G |
11: 73,407,375 (GRCm39) |
S217P |
probably benign |
Het |
| Or2m13 |
A |
T |
16: 19,225,914 (GRCm39) |
L285Q |
possibly damaging |
Het |
| Or5ak4 |
T |
A |
2: 85,161,465 (GRCm39) |
Y259F |
probably damaging |
Het |
| Pitpnm3 |
A |
T |
11: 71,962,274 (GRCm39) |
I227N |
probably benign |
Het |
| Pnn |
A |
G |
12: 59,116,995 (GRCm39) |
E189G |
probably damaging |
Het |
| Pnpla2 |
C |
A |
7: 141,038,122 (GRCm39) |
P197T |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,567,327 (GRCm39) |
T62A |
probably benign |
Het |
| Ptprq |
G |
T |
10: 107,482,419 (GRCm39) |
D1051E |
probably damaging |
Het |
| Serinc1 |
A |
T |
10: 57,399,204 (GRCm39) |
I196N |
probably damaging |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Slc26a9 |
T |
C |
1: 131,680,583 (GRCm39) |
C43R |
probably damaging |
Het |
| Slc2a3 |
A |
T |
6: 122,716,931 (GRCm39) |
Y44N |
probably benign |
Het |
| Smad5 |
T |
G |
13: 56,883,603 (GRCm39) |
|
probably benign |
Het |
| Sugct |
C |
A |
13: 17,819,450 (GRCm39) |
V132F |
possibly damaging |
Het |
| Supt6 |
T |
C |
11: 78,117,030 (GRCm39) |
E568G |
possibly damaging |
Het |
| Tfpt |
T |
C |
7: 3,631,982 (GRCm39) |
T43A |
probably damaging |
Het |
| Timp4 |
A |
T |
6: 115,224,240 (GRCm39) |
V143E |
possibly damaging |
Het |
| Tns1 |
T |
C |
1: 74,031,290 (GRCm39) |
D275G |
possibly damaging |
Het |
| Trib1 |
A |
G |
15: 59,523,449 (GRCm39) |
E161G |
probably damaging |
Het |
| Trpc7 |
A |
T |
13: 57,008,743 (GRCm39) |
L308Q |
probably damaging |
Het |
| Ush1c |
A |
T |
7: 45,858,722 (GRCm39) |
V522E |
possibly damaging |
Het |
| Usp28 |
T |
C |
9: 48,935,265 (GRCm39) |
V449A |
probably damaging |
Het |
| Vmn1r82 |
A |
G |
7: 12,039,273 (GRCm39) |
Y64C |
probably damaging |
Het |
| Wwox |
G |
A |
8: 115,438,805 (GRCm39) |
M290I |
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 |
|
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 |
|
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