Incidental Mutation 'IGL01874:Il10ra'
| ID |
178815 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Il10ra
|
| Ensembl Gene |
ENSMUSG00000032089 |
| Gene Name |
interleukin 10 receptor, alpha |
| Synonyms |
Il10r, mIL-10R, CDw210 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01874
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
45165135-45180447 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45178458 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 41
(L41P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135461
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034594]
[ENSMUST00000176222]
[ENSMUST00000176808]
|
| AlphaFold |
Q61727 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034594
AA Change: L43P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034594
Gene: ENSMUSG00000032089
AA Change: L43P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tissue_fac
|
5 |
114 |
3.3e-29 |
PFAM |
|
SCOP:d1lqsr2
|
125 |
231 |
5e-59 |
SMART |
|
transmembrane domain
|
239 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
491 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176222
AA Change: L41P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135461
Gene: ENSMUSG00000032089
AA Change: L41P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tissue_fac
|
2 |
112 |
3.5e-26 |
PFAM |
|
SCOP:d1lqsr2
|
123 |
229 |
5e-59 |
SMART |
|
transmembrane domain
|
237 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
489 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176808
|
| SMART Domains |
Protein: ENSMUSP00000135361
Gene: ENSMUSG00000032089
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183683
|
| Coding Region Coverage |
|
| 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 a receptor for interleukin 10. This protein is structurally related to interferon receptors. It has been shown to mediate the immunosuppressive signal of interleukin 10, and thus inhibits the synthesis of proinflammatory cytokines. This receptor is reported to promote survival of progenitor myeloid cells through the insulin receptor substrate-2/PI 3-kinase/AKT pathway. Activation of this receptor leads to tyrosine phosphorylation of JAK1 and TYK2 kinases. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for an ENU-generated null allele suffer from a severe inflammatory bowel syndrome. Mice heterozygote for an NZW variant allele have high sera levels of anti-chromatin antibodies. Mice homozygous for a knock-out allele exhibit increased susceptibility to induced colitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
A |
T |
13: 70,916,823 (GRCm39) |
V723D |
possibly damaging |
Het |
| Adgrb1 |
G |
A |
15: 74,413,423 (GRCm39) |
V536I |
possibly damaging |
Het |
| Aox4 |
T |
C |
1: 58,291,243 (GRCm39) |
L787S |
probably damaging |
Het |
| Atp2c1 |
A |
C |
9: 105,326,024 (GRCm39) |
V293G |
probably damaging |
Het |
| Ccnb1 |
T |
C |
13: 100,920,001 (GRCm39) |
D170G |
probably damaging |
Het |
| Cdc42 |
T |
C |
4: 137,063,381 (GRCm39) |
I4V |
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,741,729 (GRCm39) |
Q1175R |
possibly damaging |
Het |
| Cox6a1 |
A |
G |
5: 115,483,904 (GRCm39) |
*113Q |
probably null |
Het |
| Crtc2 |
C |
T |
3: 90,165,815 (GRCm39) |
P139L |
probably damaging |
Het |
| Cyp8b1 |
A |
T |
9: 121,744,969 (GRCm39) |
M121K |
possibly damaging |
Het |
| D630003M21Rik |
C |
A |
2: 158,046,644 (GRCm39) |
G778C |
probably damaging |
Het |
| Dgat1 |
A |
G |
15: 76,387,241 (GRCm39) |
F349L |
probably damaging |
Het |
| Enox1 |
A |
G |
14: 77,816,602 (GRCm39) |
Y194C |
probably damaging |
Het |
| Fam120b |
T |
A |
17: 15,623,301 (GRCm39) |
C426* |
probably null |
Het |
| Fxyd3 |
A |
G |
7: 30,770,318 (GRCm39) |
|
probably benign |
Het |
| Gin1 |
A |
G |
1: 97,710,797 (GRCm39) |
Y160C |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm11110 |
T |
A |
17: 57,399,693 (GRCm39) |
|
probably benign |
Het |
| Gm1818 |
T |
C |
12: 48,602,973 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy1a2 |
T |
C |
9: 3,797,343 (GRCm39) |
S598P |
probably damaging |
Het |
| Hook3 |
T |
A |
8: 26,529,760 (GRCm39) |
N199Y |
possibly damaging |
Het |
| Itgam |
C |
T |
7: 127,714,338 (GRCm39) |
T949I |
probably damaging |
Het |
| Kctd3 |
A |
G |
1: 188,729,188 (GRCm39) |
V123A |
probably damaging |
Het |
| Krt84 |
G |
A |
15: 101,436,239 (GRCm39) |
A450V |
probably damaging |
Het |
| Lrrc7 |
G |
A |
3: 157,946,080 (GRCm39) |
|
probably benign |
Het |
| Nckap1 |
A |
G |
2: 80,355,980 (GRCm39) |
F608L |
probably damaging |
Het |
| Niban2 |
A |
T |
2: 32,795,779 (GRCm39) |
|
probably null |
Het |
| Nmbr |
A |
T |
10: 14,642,696 (GRCm39) |
Y85F |
probably benign |
Het |
| Nol6 |
A |
C |
4: 41,115,412 (GRCm39) |
L1135R |
probably damaging |
Het |
| Ntan1 |
T |
C |
16: 13,653,077 (GRCm39) |
F278L |
probably benign |
Het |
| Or2n1e |
T |
A |
17: 38,586,408 (GRCm39) |
S249T |
probably benign |
Het |
| Pcsk5 |
T |
A |
19: 17,573,041 (GRCm39) |
T474S |
probably damaging |
Het |
| Pex11b |
T |
A |
3: 96,550,883 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
G |
T |
1: 20,173,459 (GRCm39) |
A3786E |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,552,858 (GRCm39) |
I2098T |
possibly damaging |
Het |
| Prl2c5 |
T |
A |
13: 13,365,362 (GRCm39) |
S169R |
probably benign |
Het |
| Ptbp2 |
A |
G |
3: 119,541,449 (GRCm39) |
V196A |
probably damaging |
Het |
| Rad17 |
T |
C |
13: 100,754,192 (GRCm39) |
|
probably benign |
Het |
| Skic2 |
T |
C |
17: 35,060,185 (GRCm39) |
N114D |
probably benign |
Het |
| Slc47a2 |
T |
A |
11: 61,203,685 (GRCm39) |
|
probably null |
Het |
| Srcin1 |
A |
T |
11: 97,423,924 (GRCm39) |
M684K |
possibly damaging |
Het |
| Sspo |
T |
A |
6: 48,429,124 (GRCm39) |
C298S |
probably damaging |
Het |
| Tenm3 |
G |
T |
8: 48,689,793 (GRCm39) |
Y1915* |
probably null |
Het |
| Tnks1bp1 |
A |
G |
2: 84,888,791 (GRCm39) |
T373A |
probably benign |
Het |
| Trp63 |
A |
C |
16: 25,701,335 (GRCm39) |
N470H |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,628,907 (GRCm39) |
N12703S |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,120,600 (GRCm39) |
|
probably benign |
Het |
| Vmn2r56 |
T |
A |
7: 12,449,602 (GRCm39) |
Y212F |
probably benign |
Het |
|
| Other mutations in Il10ra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01916:Il10ra
|
APN |
9 |
45,167,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03067:Il10ra
|
APN |
9 |
45,167,157 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0081:Il10ra
|
UTSW |
9 |
45,167,247 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0266:Il10ra
|
UTSW |
9 |
45,176,950 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1734:Il10ra
|
UTSW |
9 |
45,167,241 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1901:Il10ra
|
UTSW |
9 |
45,167,654 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1991:Il10ra
|
UTSW |
9 |
45,167,109 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2103:Il10ra
|
UTSW |
9 |
45,167,109 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2218:Il10ra
|
UTSW |
9 |
45,176,914 (GRCm39) |
missense |
probably benign |
|
|
R4686:Il10ra
|
UTSW |
9 |
45,180,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4908:Il10ra
|
UTSW |
9 |
45,166,919 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4982:Il10ra
|
UTSW |
9 |
45,180,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5590:Il10ra
|
UTSW |
9 |
45,176,924 (GRCm39) |
nonsense |
probably null |
|
|
R5739:Il10ra
|
UTSW |
9 |
45,167,368 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5872:Il10ra
|
UTSW |
9 |
45,166,951 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6053:Il10ra
|
UTSW |
9 |
45,167,601 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6282:Il10ra
|
UTSW |
9 |
45,171,703 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6798:Il10ra
|
UTSW |
9 |
45,167,730 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7060:Il10ra
|
UTSW |
9 |
45,167,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7561:Il10ra
|
UTSW |
9 |
45,167,117 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7630:Il10ra
|
UTSW |
9 |
45,167,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7709:Il10ra
|
UTSW |
9 |
45,171,697 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8880:Il10ra
|
UTSW |
9 |
45,175,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8939:Il10ra
|
UTSW |
9 |
45,177,802 (GRCm39) |
missense |
unknown |
|
|
R9069:Il10ra
|
UTSW |
9 |
45,167,396 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9511:Il10ra
|
UTSW |
9 |
45,167,690 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1176:Il10ra
|
UTSW |
9 |
45,177,930 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
| Posted On |
2014-05-07 |
Incidental Mutation