Incidental Mutation 'R5297:Il5ra'
| ID |
405475 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il5ra
|
| Ensembl Gene |
ENSMUSG00000005364 |
| Gene Name |
interleukin 5 receptor, alpha |
| Synonyms |
CDw125, Il5r, IL-5 receptor alpha chain, CD125 |
| MMRRC Submission |
042880-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R5297 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
106687336-106725998 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106715095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 221
(I221T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167925]
[ENSMUST00000204659]
[ENSMUST00000205004]
|
| AlphaFold |
P21183 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167925
AA Change: I221T
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000129781
Gene: ENSMUSG00000005364
AA Change: I221T
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
27 |
159 |
6.27e0 |
SMART |
|
FN3
|
236 |
312 |
1.28e1 |
SMART |
|
transmembrane domain
|
335 |
357 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204659
AA Change: I221T
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000144718
Gene: ENSMUSG00000005364
AA Change: I221T
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
27 |
159 |
6.27e0 |
SMART |
|
FN3
|
236 |
312 |
1.28e1 |
SMART |
|
transmembrane domain
|
335 |
357 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205004
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an interleukin 5 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL5 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL5. This protein has been found to interact with syndecan binding protein (syntenin), which is required for IL5 mediated activation of the transcription factor SOX4. Several alternatively spliced transcript variants encoding four distinct isoforms have been reported. [provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display a generally normal phenotype but with some immune system deficiencies. Mice homozygous for one knock-out allele exhibit increased metastasis of injected B16F10 melanoma cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd6 |
G |
T |
1: 155,463,204 (GRCm39) |
A135S |
probably benign |
Het |
| Agbl4 |
A |
G |
4: 111,423,895 (GRCm39) |
K307R |
possibly damaging |
Het |
| Akna |
T |
C |
4: 63,300,083 (GRCm39) |
E653G |
possibly damaging |
Het |
| Arhgap26 |
T |
C |
18: 39,254,941 (GRCm39) |
Y273H |
probably damaging |
Het |
| Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
| Atp1a1 |
C |
T |
3: 101,498,443 (GRCm39) |
V250M |
possibly damaging |
Het |
| Cacna1c |
T |
G |
6: 118,719,322 (GRCm39) |
D215A |
probably damaging |
Het |
| Cadps |
T |
A |
14: 12,822,345 (GRCm38) |
N132Y |
probably damaging |
Het |
| Casp6 |
T |
C |
3: 129,704,204 (GRCm39) |
F97L |
possibly damaging |
Het |
| Ckap2l |
T |
C |
2: 129,127,290 (GRCm39) |
N296S |
possibly damaging |
Het |
| Col6a4 |
T |
C |
9: 105,952,066 (GRCm39) |
K611E |
probably benign |
Het |
| Copa |
A |
G |
1: 171,940,675 (GRCm39) |
H696R |
probably damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,011,629 (GRCm39) |
N283K |
probably benign |
Het |
| Dcc |
C |
T |
18: 71,511,809 (GRCm39) |
V869I |
probably benign |
Het |
| Efemp1 |
G |
T |
11: 28,817,868 (GRCm39) |
G116C |
probably damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,302,473 (GRCm39) |
E373G |
probably benign |
Het |
| Fbxo9 |
T |
C |
9: 77,993,561 (GRCm39) |
T318A |
probably benign |
Het |
| Gipr |
A |
G |
7: 18,891,469 (GRCm39) |
W403R |
probably damaging |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Golgb1 |
G |
A |
16: 36,695,978 (GRCm39) |
|
probably benign |
Het |
| Hdac1-ps |
A |
G |
17: 78,800,187 (GRCm39) |
S393G |
probably benign |
Het |
| Herc3 |
T |
C |
6: 58,833,626 (GRCm39) |
L171P |
probably damaging |
Het |
| Itgb2 |
A |
G |
10: 77,400,501 (GRCm39) |
I705V |
probably damaging |
Het |
| Map4k4 |
G |
T |
1: 40,001,377 (GRCm39) |
V55F |
probably damaging |
Het |
| Mast1 |
A |
G |
8: 85,639,947 (GRCm39) |
|
probably null |
Het |
| Mitf |
G |
T |
6: 97,971,391 (GRCm39) |
G186V |
probably benign |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Nrcam |
T |
C |
12: 44,591,567 (GRCm39) |
F204L |
probably damaging |
Het |
| Or10g1 |
A |
G |
14: 52,647,675 (GRCm39) |
L218P |
probably damaging |
Het |
| Or10x4 |
A |
G |
1: 174,218,766 (GRCm39) |
M44V |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or1e22 |
A |
T |
11: 73,377,215 (GRCm39) |
V145E |
probably damaging |
Het |
| Or2a12 |
T |
C |
6: 42,904,371 (GRCm39) |
S69P |
probably benign |
Het |
| Or52n4b |
A |
T |
7: 108,144,611 (GRCm39) |
N291I |
probably damaging |
Het |
| Or5as1 |
T |
C |
2: 86,980,793 (GRCm39) |
I71V |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,726,263 (GRCm39) |
|
probably benign |
Het |
| Pik3ca |
T |
A |
3: 32,504,202 (GRCm39) |
Y631N |
probably damaging |
Het |
| Pramel19 |
T |
A |
4: 101,798,348 (GRCm39) |
D106E |
possibly damaging |
Het |
| Ptk2b |
T |
C |
14: 66,409,966 (GRCm39) |
D462G |
probably benign |
Het |
| Rnf19a |
A |
G |
15: 36,247,924 (GRCm39) |
S427P |
probably damaging |
Het |
| Scn3a |
T |
A |
2: 65,299,378 (GRCm39) |
Y1376F |
possibly damaging |
Het |
| Shoc1 |
A |
G |
4: 59,047,543 (GRCm39) |
W1359R |
probably benign |
Het |
| Spem1 |
A |
G |
11: 69,711,753 (GRCm39) |
Y304H |
probably damaging |
Het |
| Stk38l |
C |
A |
6: 146,677,153 (GRCm39) |
Y450* |
probably null |
Het |
| Stx19 |
A |
G |
16: 62,642,337 (GRCm39) |
E51G |
probably damaging |
Het |
| Ttc41 |
C |
G |
10: 86,612,443 (GRCm39) |
Q1239E |
probably benign |
Het |
| Tuba3a |
C |
T |
6: 125,258,303 (GRCm39) |
R229H |
probably damaging |
Het |
| Utp18 |
A |
T |
11: 93,766,915 (GRCm39) |
V264D |
probably damaging |
Het |
| V1rd19 |
T |
C |
7: 23,702,714 (GRCm39) |
V60A |
probably damaging |
Het |
| Virma |
T |
G |
4: 11,494,819 (GRCm39) |
V40G |
probably damaging |
Het |
| Vmn1r160 |
C |
T |
7: 22,570,715 (GRCm39) |
Q23* |
probably null |
Het |
| Vmn2r13 |
T |
C |
5: 109,339,805 (GRCm39) |
I57V |
probably benign |
Het |
| Vmn2r26 |
T |
A |
6: 124,038,832 (GRCm39) |
F802L |
probably damaging |
Het |
| Vmn2r61 |
A |
G |
7: 41,909,646 (GRCm39) |
D57G |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,785,413 (GRCm39) |
N260S |
probably damaging |
Het |
| Xirp1 |
C |
A |
9: 119,848,668 (GRCm39) |
A72S |
probably damaging |
Het |
| Zfp212 |
T |
C |
6: 47,906,011 (GRCm39) |
V190A |
probably benign |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
|
| Other mutations in Il5ra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00715:Il5ra
|
APN |
6 |
106,689,435 (GRCm39) |
splice site |
probably benign |
|
|
IGL00726:Il5ra
|
APN |
6 |
106,715,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01095:Il5ra
|
APN |
6 |
106,719,605 (GRCm39) |
intron |
probably benign |
|
|
IGL01562:Il5ra
|
APN |
6 |
106,708,865 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01569:Il5ra
|
APN |
6 |
106,708,794 (GRCm39) |
start codon destroyed |
probably null |
|
|
IGL02346:Il5ra
|
APN |
6 |
106,719,619 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02573:Il5ra
|
APN |
6 |
106,693,712 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02659:Il5ra
|
APN |
6 |
106,719,644 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0037:Il5ra
|
UTSW |
6 |
106,719,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0037:Il5ra
|
UTSW |
6 |
106,719,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0294:Il5ra
|
UTSW |
6 |
106,689,362 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0463:Il5ra
|
UTSW |
6 |
106,708,851 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0478:Il5ra
|
UTSW |
6 |
106,715,423 (GRCm39) |
missense |
probably benign |
|
|
R0597:Il5ra
|
UTSW |
6 |
106,721,296 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R1526:Il5ra
|
UTSW |
6 |
106,712,781 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1695:Il5ra
|
UTSW |
6 |
106,715,335 (GRCm39) |
nonsense |
probably null |
|
|
R1888:Il5ra
|
UTSW |
6 |
106,708,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Il5ra
|
UTSW |
6 |
106,708,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2176:Il5ra
|
UTSW |
6 |
106,715,233 (GRCm39) |
missense |
probably benign |
|
|
R2207:Il5ra
|
UTSW |
6 |
106,689,402 (GRCm39) |
nonsense |
probably null |
|
|
R2973:Il5ra
|
UTSW |
6 |
106,718,196 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4546:Il5ra
|
UTSW |
6 |
106,715,459 (GRCm39) |
nonsense |
probably null |
|
|
R4842:Il5ra
|
UTSW |
6 |
106,715,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4851:Il5ra
|
UTSW |
6 |
106,715,432 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4911:Il5ra
|
UTSW |
6 |
106,692,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4936:Il5ra
|
UTSW |
6 |
106,715,123 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6035:Il5ra
|
UTSW |
6 |
106,718,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Il5ra
|
UTSW |
6 |
106,718,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8103:Il5ra
|
UTSW |
6 |
106,692,611 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8338:Il5ra
|
UTSW |
6 |
106,689,350 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8497:Il5ra
|
UTSW |
6 |
106,715,066 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8936:Il5ra
|
UTSW |
6 |
106,692,604 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9397:Il5ra
|
UTSW |
6 |
106,721,258 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9576:Il5ra
|
UTSW |
6 |
106,712,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9583:Il5ra
|
UTSW |
6 |
106,721,297 (GRCm39) |
start codon destroyed |
possibly damaging |
0.84 |
|
R9583:Il5ra
|
UTSW |
6 |
106,689,331 (GRCm39) |
missense |
unknown |
|
|
Z1177:Il5ra
|
UTSW |
6 |
106,718,095 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTGGGAACTCTGCCTCAG -3'
(R):5'- GACACACAGTATTTCCTATACTACAGG -3'
Sequencing Primer
(F):5'- GGGAACTCTGCCTCAGTAGTTTTC -3'
(R):5'- ATTTCCTATACTACAGGTCAGTGTC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation