Incidental Mutation 'R6160:Il15ra'
| ID |
489788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il15ra
|
| Ensembl Gene |
ENSMUSG00000023206 |
| Gene Name |
interleukin 15 receptor, alpha chain |
| Synonyms |
|
| MMRRC Submission |
044307-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R6160 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
11709992-11738796 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11724827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 99
(D99G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110483
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078834]
[ENSMUST00000114831]
[ENSMUST00000114832]
[ENSMUST00000114833]
[ENSMUST00000114834]
[ENSMUST00000123600]
[ENSMUST00000138856]
[ENSMUST00000148748]
[ENSMUST00000135341]
[ENSMUST00000138349]
[ENSMUST00000128156]
|
| AlphaFold |
Q60819 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078834
AA Change: D99G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000077878
Gene: ENSMUSG00000023206
AA Change: D99G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
28 |
N/A |
INTRINSIC |
|
CCP
|
36 |
96 |
3.87e-8 |
SMART |
|
low complexity region
|
107 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
172 |
N/A |
INTRINSIC |
|
transmembrane domain
|
206 |
228 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000091456
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114831
AA Change: D99G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110480
Gene: ENSMUSG00000023206
AA Change: D99G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
28 |
N/A |
INTRINSIC |
|
CCP
|
36 |
96 |
3.87e-8 |
SMART |
|
low complexity region
|
107 |
117 |
N/A |
INTRINSIC |
|
transmembrane domain
|
173 |
195 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114832
|
| SMART Domains |
Protein: ENSMUSP00000110481
Gene: ENSMUSG00000023206
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
28 |
N/A |
INTRINSIC |
|
CCP
|
36 |
96 |
3.87e-8 |
SMART |
|
transmembrane domain
|
98 |
120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114833
|
| SMART Domains |
Protein: ENSMUSP00000110482
Gene: ENSMUSG00000023206
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
28 |
N/A |
INTRINSIC |
|
CCP
|
36 |
96 |
3.87e-8 |
SMART |
|
transmembrane domain
|
109 |
131 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114834
AA Change: D99G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110483
Gene: ENSMUSG00000023206
AA Change: D99G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
28 |
N/A |
INTRINSIC |
|
CCP
|
36 |
96 |
3.87e-8 |
SMART |
|
low complexity region
|
107 |
117 |
N/A |
INTRINSIC |
|
transmembrane domain
|
140 |
162 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000123600
AA Change: D11G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130792
Gene: ENSMUSG00000023206
AA Change: D11G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
66 |
88 |
N/A |
INTRINSIC |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000138856
|
| SMART Domains |
Protein: ENSMUSP00000120539
Gene: ENSMUSG00000023206
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
PDB:2PSM|C
|
34 |
59 |
1e-11 |
PDB |
|
Blast:CCP
|
36 |
59 |
3e-9 |
BLAST |
|
low complexity region
|
64 |
73 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133975
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191662
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139774
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124448
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130245
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126394
|
| SMART Domains |
Protein: ENSMUSP00000131640
Gene: ENSMUSG00000023206
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148748
|
| SMART Domains |
Protein: ENSMUSP00000132058
Gene: ENSMUSG00000023206
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
32 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135341
|
| SMART Domains |
Protein: ENSMUSP00000132731
Gene: ENSMUSG00000023206
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138349
|
| SMART Domains |
Protein: ENSMUSP00000131473
Gene: ENSMUSG00000023206
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
66 |
88 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128156
|
| SMART Domains |
Protein: ENSMUSP00000126364
Gene: ENSMUSG00000023206
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
66 |
88 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2893 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
94% (62/66) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytokine receptor that specifically binds interleukin 15 (IL15) with high affinity. The receptors of IL15 and IL2 share two subunits, IL2R beta and IL2R gamma. This forms the basis of many overlapping biological activities of IL15 and IL2. The protein encoded by this gene is structurally related to IL2R alpha, an additional IL2-specific alpha subunit necessary for high affinity IL2 binding. Unlike IL2RA, IL15RA is capable of binding IL15 with high affinity independent of other subunits, which suggests distinct roles between IL15 and IL2. This receptor is reported to enhance cell proliferation and expression of apoptosis inhibitor BCL2L1/BCL2-XL and BCL2. Multiple alternatively spliced transcript variants of this gene have been reported.[provided by RefSeq, Apr 2010]
PHENOTYPE: Mutation of this gene results in absence of NK cell production in spleen and bone marrow. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
T |
A |
7: 40,642,950 (GRCm39) |
S297R |
possibly damaging |
Het |
| 5530400C23Rik |
A |
G |
6: 133,271,289 (GRCm39) |
E111G |
possibly damaging |
Het |
| 8030423J24Rik |
T |
A |
13: 71,032,029 (GRCm39) |
S34T |
unknown |
Het |
| Ace3 |
T |
A |
11: 105,885,558 (GRCm39) |
W20R |
possibly damaging |
Het |
| Adgrf1 |
A |
G |
17: 43,621,578 (GRCm39) |
E605G |
probably damaging |
Het |
| Arhgap44 |
G |
A |
11: 65,053,375 (GRCm39) |
|
probably benign |
Het |
| Atm |
A |
C |
9: 53,402,259 (GRCm39) |
H1404Q |
probably benign |
Het |
| AW209491 |
A |
G |
13: 14,811,306 (GRCm39) |
E53G |
probably damaging |
Het |
| Bhmt1b |
G |
A |
18: 87,775,245 (GRCm39) |
C256Y |
probably damaging |
Het |
| Cdt1 |
C |
T |
8: 123,298,107 (GRCm39) |
T366I |
probably benign |
Het |
| Cerk |
A |
T |
15: 86,026,974 (GRCm39) |
C179S |
probably benign |
Het |
| Cldn10 |
T |
C |
14: 119,099,255 (GRCm39) |
V123A |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,751,604 (GRCm39) |
K726E |
possibly damaging |
Het |
| Dcaf12 |
A |
T |
4: 41,294,043 (GRCm39) |
Y365N |
probably damaging |
Het |
| Dennd6b |
A |
G |
15: 89,073,024 (GRCm39) |
L171P |
probably damaging |
Het |
| Dip2c |
G |
A |
13: 9,583,290 (GRCm39) |
V91I |
probably benign |
Het |
| Dlec1 |
A |
G |
9: 118,972,387 (GRCm39) |
I1431V |
probably benign |
Het |
| Egln1 |
T |
C |
8: 125,675,231 (GRCm39) |
D188G |
probably damaging |
Het |
| Enpp5 |
T |
A |
17: 44,392,259 (GRCm39) |
N229K |
possibly damaging |
Het |
| Fmo1 |
T |
G |
1: 162,663,867 (GRCm39) |
I221L |
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,818,289 (GRCm39) |
W4674* |
probably null |
Het |
| Gm12185 |
G |
A |
11: 48,799,255 (GRCm39) |
Q413* |
probably null |
Het |
| Gm7298 |
A |
T |
6: 121,741,886 (GRCm39) |
H436L |
probably benign |
Het |
| Gucy2c |
G |
A |
6: 136,717,684 (GRCm39) |
Q430* |
probably null |
Het |
| Hgd |
A |
G |
16: 37,433,660 (GRCm39) |
H134R |
probably damaging |
Het |
| Hoxd8 |
A |
G |
2: 74,536,343 (GRCm39) |
E151G |
probably damaging |
Het |
| Ints4 |
T |
A |
7: 97,158,790 (GRCm39) |
|
probably null |
Het |
| Itgb1 |
T |
A |
8: 129,446,764 (GRCm39) |
F426L |
possibly damaging |
Het |
| Itpr1 |
A |
C |
6: 108,495,716 (GRCm39) |
I2534L |
probably benign |
Het |
| Kcnq4 |
T |
A |
4: 120,573,756 (GRCm39) |
H235L |
probably damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,782,395 (GRCm39) |
I178N |
probably damaging |
Het |
| Kidins220 |
A |
G |
12: 25,047,310 (GRCm39) |
D252G |
probably damaging |
Het |
| Krt23 |
A |
G |
11: 99,376,544 (GRCm39) |
I204T |
probably damaging |
Het |
| Lipo4 |
A |
G |
19: 33,480,693 (GRCm39) |
L225P |
probably damaging |
Het |
| Lrp3 |
T |
C |
7: 34,903,548 (GRCm39) |
D245G |
possibly damaging |
Het |
| Mmp16 |
A |
G |
4: 18,051,857 (GRCm39) |
D282G |
probably damaging |
Het |
| Myo1c |
A |
T |
11: 75,541,568 (GRCm39) |
H18L |
probably benign |
Het |
| Myo1f |
C |
A |
17: 33,823,318 (GRCm39) |
P981Q |
probably benign |
Het |
| Nle1 |
A |
T |
11: 82,798,983 (GRCm39) |
F33I |
probably benign |
Het |
| Nlrp4e |
T |
G |
7: 23,020,731 (GRCm39) |
M406R |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,942,611 (GRCm39) |
V4857E |
probably damaging |
Het |
| Palb2 |
A |
T |
7: 121,727,643 (GRCm39) |
|
probably null |
Het |
| Phospho1 |
A |
T |
11: 95,721,450 (GRCm39) |
E22V |
probably damaging |
Het |
| Pom121l2 |
C |
T |
13: 22,167,838 (GRCm39) |
S703L |
possibly damaging |
Het |
| Prex2 |
T |
C |
1: 11,064,075 (GRCm39) |
L20P |
probably damaging |
Het |
| Psmb7 |
T |
C |
2: 38,533,393 (GRCm39) |
T45A |
probably damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,320,376 (GRCm39) |
I532T |
probably damaging |
Het |
| Rcn1 |
T |
C |
2: 105,222,362 (GRCm39) |
D208G |
probably damaging |
Het |
| Recql5 |
A |
G |
11: 115,823,613 (GRCm39) |
|
probably null |
Het |
| Resf1 |
G |
A |
6: 149,233,005 (GRCm39) |
|
probably null |
Het |
| Rfc4 |
A |
T |
16: 22,933,433 (GRCm39) |
I242N |
probably damaging |
Het |
| Rims1 |
T |
C |
1: 22,503,235 (GRCm39) |
Y650C |
probably damaging |
Het |
| Shc2 |
C |
T |
10: 79,462,853 (GRCm39) |
|
probably null |
Het |
| Slc14a2 |
A |
T |
18: 78,202,190 (GRCm39) |
|
probably null |
Het |
| Slc6a6 |
A |
T |
6: 91,716,995 (GRCm39) |
|
probably null |
Het |
| Synj2 |
C |
A |
17: 6,058,336 (GRCm39) |
H275N |
possibly damaging |
Het |
| T |
A |
T |
17: 8,660,618 (GRCm39) |
T410S |
probably benign |
Het |
| Tars3 |
A |
G |
7: 65,332,527 (GRCm39) |
I543V |
probably benign |
Het |
| Tbc1d8 |
T |
A |
1: 39,411,484 (GRCm39) |
K1117N |
probably damaging |
Het |
| Tm7sf3 |
A |
T |
6: 146,507,787 (GRCm39) |
L425* |
probably null |
Het |
| Trav14-3 |
A |
G |
14: 54,000,978 (GRCm39) |
Y63C |
probably damaging |
Het |
| Tyro3 |
A |
C |
2: 119,633,751 (GRCm39) |
D133A |
probably damaging |
Het |
| Vmn1r119 |
T |
G |
7: 20,745,740 (GRCm39) |
H214P |
possibly damaging |
Het |
| Vmn2r120 |
G |
A |
17: 57,816,418 (GRCm39) |
P646S |
probably benign |
Het |
| Zbtb7c |
A |
T |
18: 76,278,904 (GRCm39) |
Y454F |
probably benign |
Het |
| Zmym2 |
T |
C |
14: 57,187,766 (GRCm39) |
L1144P |
probably damaging |
Het |
|
| Other mutations in Il15ra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01505:Il15ra
|
APN |
2 |
11,737,956 (GRCm39) |
splice site |
probably benign |
|
|
R0105:Il15ra
|
UTSW |
2 |
11,735,459 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0105:Il15ra
|
UTSW |
2 |
11,735,459 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0945:Il15ra
|
UTSW |
2 |
11,723,138 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1863:Il15ra
|
UTSW |
2 |
11,728,247 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1975:Il15ra
|
UTSW |
2 |
11,728,334 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2172:Il15ra
|
UTSW |
2 |
11,728,382 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2202:Il15ra
|
UTSW |
2 |
11,723,155 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3709:Il15ra
|
UTSW |
2 |
11,735,458 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3710:Il15ra
|
UTSW |
2 |
11,735,458 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4621:Il15ra
|
UTSW |
2 |
11,723,140 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4701:Il15ra
|
UTSW |
2 |
11,723,156 (GRCm39) |
splice site |
probably null |
|
|
R4779:Il15ra
|
UTSW |
2 |
11,723,117 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4844:Il15ra
|
UTSW |
2 |
11,723,082 (GRCm39) |
start gained |
probably benign |
|
|
R5237:Il15ra
|
UTSW |
2 |
11,738,016 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5810:Il15ra
|
UTSW |
2 |
11,738,063 (GRCm39) |
splice site |
probably null |
|
|
R5880:Il15ra
|
UTSW |
2 |
11,735,426 (GRCm39) |
makesense |
probably null |
|
|
R7291:Il15ra
|
UTSW |
2 |
11,723,192 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7788:Il15ra
|
UTSW |
2 |
11,728,404 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8941:Il15ra
|
UTSW |
2 |
11,737,995 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9013:Il15ra
|
UTSW |
2 |
11,732,576 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9025:Il15ra
|
UTSW |
2 |
11,723,233 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9481:Il15ra
|
UTSW |
2 |
11,724,854 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9756:Il15ra
|
UTSW |
2 |
11,728,259 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTGATGACTGACCCGGG -3'
(R):5'- TGCCTAGGTTTGCAGTGATC -3'
Sequencing Primer
(F):5'- AAAAAGCAGTTTACAGGCTGTAC -3'
(R):5'- CCTAGGTTTGCAGTGATCAGCAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation