Incidental Mutation 'IGL03067:Il10ra'
ID |
409727 |
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 # |
IGL03067
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
45165135-45180447 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 45167157 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 465
(T465A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135461
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034594]
[ENSMUST00000176222]
[ENSMUST00000176808]
|
AlphaFold |
Q61727 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034594
AA Change: T467A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000034594 Gene: ENSMUSG00000032089 AA Change: T467A
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 benign
Transcript: ENSMUST00000176222
AA Change: T465A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000135461 Gene: ENSMUSG00000032089 AA Change: T465A
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 |
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
A |
T |
11: 119,900,909 (GRCm39) |
D1162E |
probably benign |
Het |
Abhd2 |
T |
C |
7: 79,009,782 (GRCm39) |
F386L |
probably benign |
Het |
Adamts6 |
C |
T |
13: 104,433,783 (GRCm39) |
R71W |
probably damaging |
Het |
Adgrv1 |
T |
C |
13: 81,590,599 (GRCm39) |
Y4403C |
probably damaging |
Het |
Aldoart1 |
A |
T |
4: 72,770,194 (GRCm39) |
C205S |
possibly damaging |
Het |
Ap2a1 |
C |
A |
7: 44,552,935 (GRCm39) |
A711S |
probably benign |
Het |
Arhgef28 |
A |
G |
13: 98,124,794 (GRCm39) |
I496T |
probably benign |
Het |
Cyp27a1 |
A |
G |
1: 74,771,068 (GRCm39) |
|
probably null |
Het |
Cyp2c69 |
C |
T |
19: 39,869,537 (GRCm39) |
G161S |
probably benign |
Het |
Dpy19l1 |
A |
G |
9: 24,349,956 (GRCm39) |
V428A |
probably benign |
Het |
Foxk2 |
C |
T |
11: 121,176,394 (GRCm39) |
T180M |
possibly damaging |
Het |
Gm3402 |
C |
A |
5: 146,451,399 (GRCm39) |
H86N |
possibly damaging |
Het |
Gm3543 |
A |
G |
14: 41,802,830 (GRCm39) |
|
probably benign |
Het |
Gnai3 |
T |
C |
3: 108,025,609 (GRCm39) |
|
probably benign |
Het |
Hmcn2 |
C |
T |
2: 31,236,642 (GRCm39) |
P395L |
probably damaging |
Het |
Igsf10 |
T |
C |
3: 59,226,339 (GRCm39) |
I2445V |
probably benign |
Het |
Itpr2 |
G |
A |
6: 146,226,680 (GRCm39) |
L1322F |
probably damaging |
Het |
Man1b1 |
T |
C |
2: 25,239,344 (GRCm39) |
Y536H |
probably benign |
Het |
P3h1 |
A |
G |
4: 119,092,477 (GRCm39) |
H170R |
probably damaging |
Het |
Pakap |
A |
T |
4: 57,648,038 (GRCm39) |
T59S |
probably benign |
Het |
Parp14 |
A |
G |
16: 35,676,878 (GRCm39) |
V1030A |
probably benign |
Het |
Pdzd2 |
A |
G |
15: 12,388,628 (GRCm39) |
|
probably null |
Het |
Pilra |
T |
C |
5: 137,821,843 (GRCm39) |
Y264C |
probably damaging |
Het |
Ptprf |
A |
G |
4: 118,067,910 (GRCm39) |
V1799A |
possibly damaging |
Het |
Rap1gap2 |
A |
G |
11: 74,284,238 (GRCm39) |
S649P |
possibly damaging |
Het |
Rasgrf2 |
T |
C |
13: 92,159,413 (GRCm39) |
M426V |
probably damaging |
Het |
Rpl9 |
A |
G |
5: 65,548,191 (GRCm39) |
I18T |
possibly damaging |
Het |
Slc6a19 |
C |
A |
13: 73,837,849 (GRCm39) |
E217* |
probably null |
Het |
Smtn |
C |
A |
11: 3,480,165 (GRCm39) |
R352L |
possibly damaging |
Het |
Supv3l1 |
C |
A |
10: 62,265,600 (GRCm39) |
D647Y |
probably damaging |
Het |
Sv2a |
A |
G |
3: 96,092,498 (GRCm39) |
Y66C |
probably damaging |
Het |
Upk1b |
A |
G |
16: 38,605,272 (GRCm39) |
I107T |
probably damaging |
Het |
Yif1a |
T |
C |
19: 5,139,813 (GRCm39) |
V86A |
possibly damaging |
Het |
Zfp820 |
T |
C |
17: 22,038,801 (GRCm39) |
T176A |
possibly damaging |
Het |
|
Other mutations in Il10ra |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01874:Il10ra
|
APN |
9 |
45,178,458 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01916:Il10ra
|
APN |
9 |
45,167,444 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2016-08-02 |