Incidental Mutation 'IGL01358:Rag2'
| ID |
75614 |
| 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 # |
IGL01358
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
101455063-101462874 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 101460365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 225
(A225D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044031]
[ENSMUST00000099682]
[ENSMUST00000111227]
[ENSMUST00000111231]
[ENSMUST00000128898]
[ENSMUST00000160037]
[ENSMUST00000160722]
|
| AlphaFold |
P21784 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044031
AA Change: A225D
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000038204
Gene: ENSMUSG00000032864
AA Change: A225D
| 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 |
possibly damaging
Transcript: ENSMUST00000111227
AA Change: A225D
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106858
Gene: ENSMUSG00000032864
AA Change: A225D
| 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 |
|---|
| Akt2 |
A |
G |
7: 27,335,579 (GRCm39) |
Y316C |
probably damaging |
Het |
| Atp6v0a4 |
T |
G |
6: 38,051,145 (GRCm39) |
D411A |
probably damaging |
Het |
| Calr3 |
A |
T |
8: 73,181,057 (GRCm39) |
Y178* |
probably null |
Het |
| Ces1e |
A |
G |
8: 93,940,778 (GRCm39) |
L298P |
probably damaging |
Het |
| Clk3 |
T |
C |
9: 57,661,875 (GRCm39) |
T391A |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,842,128 (GRCm39) |
I275T |
probably damaging |
Het |
| Cul9 |
G |
T |
17: 46,849,240 (GRCm39) |
P635H |
probably damaging |
Het |
| Dhx33 |
G |
A |
11: 70,884,687 (GRCm39) |
Q40* |
probably null |
Het |
| Dscam |
A |
T |
16: 96,411,543 (GRCm39) |
S1778T |
possibly damaging |
Het |
| Dsg2 |
T |
A |
18: 20,734,850 (GRCm39) |
Y943N |
probably damaging |
Het |
| Eml1 |
A |
T |
12: 108,480,727 (GRCm39) |
T398S |
probably benign |
Het |
| Epha3 |
G |
A |
16: 63,416,109 (GRCm39) |
|
probably benign |
Het |
| Hacl1 |
A |
T |
14: 31,348,374 (GRCm39) |
M200K |
probably benign |
Het |
| Ighmbp2 |
T |
A |
19: 3,318,817 (GRCm39) |
S420C |
probably damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,806,017 (GRCm39) |
I1200N |
probably damaging |
Het |
| Kctd21 |
T |
A |
7: 96,996,581 (GRCm39) |
L18Q |
probably damaging |
Het |
| Krt78 |
A |
C |
15: 101,854,698 (GRCm39) |
S1038A |
probably benign |
Het |
| Lrp2 |
C |
A |
2: 69,382,814 (GRCm39) |
|
probably benign |
Het |
| Lrrc41 |
T |
A |
4: 115,932,784 (GRCm39) |
V60D |
probably benign |
Het |
| Mafk |
T |
C |
5: 139,786,248 (GRCm39) |
S149P |
probably damaging |
Het |
| Mest |
T |
A |
6: 30,746,330 (GRCm39) |
|
probably benign |
Het |
| Nlrp1b |
G |
A |
11: 71,072,682 (GRCm39) |
T387I |
possibly damaging |
Het |
| Notch3 |
C |
T |
17: 32,363,721 (GRCm39) |
D1140N |
probably damaging |
Het |
| Nxph2 |
A |
G |
2: 23,290,086 (GRCm39) |
N146S |
probably damaging |
Het |
| Olfm1 |
T |
C |
2: 28,119,507 (GRCm39) |
C381R |
probably damaging |
Het |
| Or56b1b |
T |
A |
7: 108,164,409 (GRCm39) |
R198W |
probably benign |
Het |
| Or5p81 |
C |
T |
7: 108,266,869 (GRCm39) |
P82L |
possibly damaging |
Het |
| Parp11 |
C |
T |
6: 127,448,526 (GRCm39) |
Q48* |
probably null |
Het |
| Pgc |
T |
C |
17: 48,041,591 (GRCm39) |
V175A |
probably benign |
Het |
| Pira12 |
A |
G |
7: 3,898,686 (GRCm39) |
V254A |
probably benign |
Het |
| Plxna1 |
G |
T |
6: 89,299,732 (GRCm39) |
T1679N |
probably damaging |
Het |
| Pnpt1 |
G |
T |
11: 29,088,425 (GRCm39) |
L229F |
possibly damaging |
Het |
| Ppp1r12b |
A |
T |
1: 134,819,897 (GRCm39) |
L282Q |
probably damaging |
Het |
| Ralgps1 |
T |
C |
2: 33,033,061 (GRCm39) |
D456G |
possibly damaging |
Het |
| Rasgrf2 |
T |
A |
13: 92,130,749 (GRCm39) |
T170S |
probably benign |
Het |
| Rel |
C |
T |
11: 23,711,155 (GRCm39) |
S4N |
probably benign |
Het |
| Rims3 |
C |
T |
4: 120,748,700 (GRCm39) |
S307F |
possibly damaging |
Het |
| Rnf123 |
A |
G |
9: 107,946,381 (GRCm39) |
L290P |
probably damaging |
Het |
| Rtn4r |
G |
T |
16: 17,969,260 (GRCm39) |
M229I |
possibly damaging |
Het |
| Rusc2 |
G |
A |
4: 43,426,116 (GRCm39) |
R1407Q |
probably damaging |
Het |
| Sec23ip |
A |
T |
7: 128,354,521 (GRCm39) |
Q259L |
possibly damaging |
Het |
| Slc24a4 |
G |
A |
12: 102,189,894 (GRCm39) |
C204Y |
probably benign |
Het |
| Slc27a3 |
T |
C |
3: 90,293,859 (GRCm39) |
T542A |
probably damaging |
Het |
| Smarcal1 |
A |
T |
1: 72,655,724 (GRCm39) |
I668F |
possibly damaging |
Het |
| Snap91 |
C |
A |
9: 86,688,613 (GRCm39) |
V311F |
probably damaging |
Het |
| Sp8 |
T |
A |
12: 118,812,705 (GRCm39) |
S187T |
probably damaging |
Het |
| Tcerg1 |
T |
C |
18: 42,657,342 (GRCm39) |
S275P |
unknown |
Het |
| Vwce |
T |
A |
19: 10,641,773 (GRCm39) |
V833D |
possibly damaging |
Het |
| Zbtb8b |
A |
G |
4: 129,327,052 (GRCm39) |
S38P |
probably damaging |
Het |
| Zfp598 |
T |
C |
17: 24,900,398 (GRCm39) |
|
probably benign |
Het |
| Zkscan4 |
G |
A |
13: 21,668,475 (GRCm39) |
E309K |
possibly 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 |
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation