Incidental Mutation 'R0581:Il2rb'
| ID |
56443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il2rb
|
| Ensembl Gene |
ENSMUSG00000068227 |
| Gene Name |
interleukin 2 receptor, beta chain |
| Synonyms |
IL-15Rbeta, IL-15 receptor beta chain, IL-2/15Rbeta, IL15Rbeta, Il-2Rbeta, CD122 |
| MMRRC Submission |
038771-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R0581 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
78363456-78379471 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78366136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 387
(Y387F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127006
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089398]
[ENSMUST00000163494]
|
| AlphaFold |
P16297 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089398
AA Change: Y387F
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000086820
Gene: ENSMUSG00000068227
AA Change: Y387F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
|
FN3
|
133 |
219 |
9.48e-3 |
SMART |
|
transmembrane domain
|
246 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
321 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163494
AA Change: Y387F
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127006
Gene: ENSMUSG00000068227
AA Change: Y387F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
|
FN3
|
133 |
219 |
9.48e-3 |
SMART |
|
transmembrane domain
|
246 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
321 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.5033 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.3%
- 20x: 93.7%
|
| Validation Efficiency |
95% (42/44) |
| MGI Phenotype |
FUNCTION: The interleukin 2 receptor is composed of alpha and beta subunits. The beta subunit encoded by this gene is very homologous to the human beta subunit and also shows structural similarity to other cytokine receptors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit spontaneous activation of T cells and differentiation of B cells, elevated immunoglobulins including autoantibodies causing hemolytic anemia, granulocytopoiesis, and death after 3 months of age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
A |
G |
5: 4,100,620 (GRCm39) |
T2761A |
probably benign |
Het |
| Apold1 |
G |
A |
6: 134,960,776 (GRCm39) |
V77I |
probably benign |
Het |
| Atad2 |
T |
C |
15: 57,990,060 (GRCm39) |
T139A |
probably benign |
Het |
| Cacna1a |
A |
T |
8: 85,328,565 (GRCm39) |
I1668F |
possibly damaging |
Het |
| Ccer2 |
T |
A |
7: 28,456,451 (GRCm39) |
|
probably benign |
Het |
| Cyp2c54 |
T |
A |
19: 40,035,999 (GRCm39) |
T304S |
probably benign |
Het |
| Dpp4 |
T |
A |
2: 62,187,020 (GRCm39) |
M497L |
probably benign |
Het |
| Evpl |
T |
A |
11: 116,120,316 (GRCm39) |
I541L |
probably benign |
Het |
| Ggn |
A |
G |
7: 28,871,729 (GRCm39) |
T370A |
probably benign |
Het |
| Ghr |
A |
G |
15: 3,418,116 (GRCm39) |
|
probably benign |
Het |
| Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr68 |
G |
C |
12: 100,844,815 (GRCm39) |
P243R |
probably damaging |
Het |
| Gtf3c2 |
G |
T |
5: 31,316,862 (GRCm39) |
Y720* |
probably null |
Het |
| Kcnu1 |
T |
A |
8: 26,427,529 (GRCm39) |
V282E |
probably damaging |
Het |
| Krt222 |
G |
A |
11: 99,127,018 (GRCm39) |
Q201* |
probably null |
Het |
| Lats1 |
A |
G |
10: 7,578,705 (GRCm39) |
T610A |
possibly damaging |
Het |
| Mroh2a |
GT |
GTT |
1: 88,183,888 (GRCm39) |
|
probably null |
Het |
| Myh7 |
T |
C |
14: 55,222,953 (GRCm39) |
I751V |
probably benign |
Het |
| Mypn |
A |
G |
10: 62,998,023 (GRCm39) |
I429T |
probably benign |
Het |
| Nemf |
A |
T |
12: 69,369,045 (GRCm39) |
D723E |
probably benign |
Het |
| Nlrp4b |
T |
C |
7: 10,448,457 (GRCm39) |
L220P |
probably damaging |
Het |
| Npr3 |
T |
A |
15: 11,851,536 (GRCm39) |
D418V |
probably damaging |
Het |
| Nsd3 |
A |
G |
8: 26,200,718 (GRCm39) |
N1270S |
probably damaging |
Het |
| Or1j15 |
T |
C |
2: 36,458,834 (GRCm39) |
S75P |
probably damaging |
Het |
| Or2g1 |
A |
G |
17: 38,106,993 (GRCm39) |
I219M |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,624,901 (GRCm39) |
T1579I |
possibly damaging |
Het |
| Pkp2 |
T |
A |
16: 16,087,647 (GRCm39) |
|
probably benign |
Het |
| Psd3 |
T |
C |
8: 68,173,598 (GRCm39) |
Y301C |
probably damaging |
Het |
| Psmb4 |
T |
C |
3: 94,793,479 (GRCm39) |
H134R |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,334,881 (GRCm39) |
T1043A |
probably benign |
Het |
| Sec14l5 |
T |
A |
16: 4,996,349 (GRCm39) |
|
probably null |
Het |
| Serpina12 |
T |
A |
12: 103,997,399 (GRCm39) |
Q374L |
probably damaging |
Het |
| Serpinb10 |
C |
T |
1: 107,474,692 (GRCm39) |
R362* |
probably null |
Het |
| Sorcs1 |
T |
A |
19: 50,241,139 (GRCm39) |
I416F |
possibly damaging |
Het |
| Sparcl1 |
T |
C |
5: 104,241,178 (GRCm39) |
D82G |
probably damaging |
Het |
| Stat6 |
A |
T |
10: 127,483,985 (GRCm39) |
Q89L |
probably damaging |
Het |
| Tat |
A |
G |
8: 110,718,270 (GRCm39) |
T52A |
possibly damaging |
Het |
| Yipf7 |
T |
A |
5: 69,678,406 (GRCm39) |
I128F |
probably benign |
Het |
| Zfp112 |
T |
A |
7: 23,825,288 (GRCm39) |
C419S |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,742,726 (GRCm39) |
I769V |
probably benign |
Het |
|
| Other mutations in Il2rb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01977:Il2rb
|
APN |
15 |
78,365,897 (GRCm39) |
missense |
probably benign |
0.00 |
|
Bonnerhall
|
UTSW |
15 |
78,369,204 (GRCm39) |
missense |
probably benign |
|
|
diptera
|
UTSW |
15 |
78,370,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
flybase
|
UTSW |
15 |
78,376,048 (GRCm39) |
start codon destroyed |
probably null |
0.66 |
|
Halfmeasure
|
UTSW |
15 |
78,370,681 (GRCm39) |
missense |
probably benign |
0.04 |
|
Moonpie
|
UTSW |
15 |
78,366,034 (GRCm39) |
frame shift |
probably null |
|
|
tetragonal
|
UTSW |
15 |
78,369,953 (GRCm39) |
missense |
probably benign |
|
|
Whistles
|
UTSW |
15 |
78,366,136 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1795:Il2rb
|
UTSW |
15 |
78,368,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1932:Il2rb
|
UTSW |
15 |
78,375,977 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2924:Il2rb
|
UTSW |
15 |
78,376,049 (GRCm39) |
start codon destroyed |
probably null |
0.27 |
|
R4706:Il2rb
|
UTSW |
15 |
78,370,600 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5713:Il2rb
|
UTSW |
15 |
78,376,048 (GRCm39) |
start codon destroyed |
probably null |
0.66 |
|
R5953:Il2rb
|
UTSW |
15 |
78,369,182 (GRCm39) |
nonsense |
probably null |
|
|
R6018:Il2rb
|
UTSW |
15 |
78,366,266 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6279:Il2rb
|
UTSW |
15 |
78,365,738 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6666:Il2rb
|
UTSW |
15 |
78,366,034 (GRCm39) |
frame shift |
probably null |
|
|
R6961:Il2rb
|
UTSW |
15 |
78,370,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8020:Il2rb
|
UTSW |
15 |
78,369,204 (GRCm39) |
missense |
probably benign |
|
|
R8477:Il2rb
|
UTSW |
15 |
78,370,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8854:Il2rb
|
UTSW |
15 |
78,369,953 (GRCm39) |
missense |
probably benign |
|
|
R8976:Il2rb
|
UTSW |
15 |
78,370,681 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8979:Il2rb
|
UTSW |
15 |
78,376,052 (GRCm39) |
start gained |
probably benign |
|
|
R9509:Il2rb
|
UTSW |
15 |
78,374,416 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9541:Il2rb
|
UTSW |
15 |
78,372,393 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9745:Il2rb
|
UTSW |
15 |
78,372,399 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0018:Il2rb
|
UTSW |
15 |
78,369,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Il2rb
|
UTSW |
15 |
78,369,156 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGTCCTGATCTTGCCCATGAAG -3'
(R):5'- TCTCTGGCAGAAATGGCTCTCCTC -3'
Sequencing Primer
(F):5'- TGTAAGCCCATCAGGTCACG -3'
(R):5'- ATCTCTCCGCTGGAAGTGC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation