Incidental Mutation 'R6282:Il10ra'
| ID |
508001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il10ra
|
| Ensembl Gene |
ENSMUSG00000032089 |
| Gene Name |
interleukin 10 receptor, alpha |
| Synonyms |
Il10r, mIL-10R, CDw210 |
| MMRRC Submission |
044452-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6282 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
45165135-45180447 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 45171703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 255
(C255F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034594
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034594]
[ENSMUST00000176222]
[ENSMUST00000176808]
|
| AlphaFold |
Q61727 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034594
AA Change: C255F
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034594
Gene: ENSMUSG00000032089
AA Change: C255F
| 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 |
possibly damaging
Transcript: ENSMUST00000176222
AA Change: C253F
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135461
Gene: ENSMUSG00000032089
AA Change: C253F
| 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 |
noncoding transcript
Transcript: ENSMUST00000176318
|
| 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 |
|
| Meta Mutation Damage Score |
0.3290 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
98% (45/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
A |
T |
2: 30,690,781 (GRCm39) |
L185Q |
possibly damaging |
Het |
| Abca6 |
A |
T |
11: 110,099,650 (GRCm39) |
C966S |
probably damaging |
Het |
| Atp13a4 |
A |
T |
16: 29,252,822 (GRCm39) |
I708N |
probably benign |
Het |
| Axin1 |
C |
G |
17: 26,362,011 (GRCm39) |
D118E |
probably damaging |
Het |
| Bace2 |
A |
T |
16: 97,216,297 (GRCm39) |
I297F |
probably damaging |
Het |
| Ccdc30 |
T |
A |
4: 119,181,214 (GRCm39) |
D649V |
probably damaging |
Het |
| Cd180 |
G |
A |
13: 102,830,265 (GRCm39) |
A20T |
possibly damaging |
Het |
| Cdk18 |
T |
C |
1: 132,047,758 (GRCm39) |
D112G |
probably damaging |
Het |
| Cuedc1 |
A |
G |
11: 88,074,228 (GRCm39) |
N254S |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,542,760 (GRCm39) |
H2470R |
probably damaging |
Het |
| Drap1 |
G |
A |
19: 5,474,464 (GRCm39) |
|
probably null |
Het |
| Fbxo5 |
T |
A |
10: 5,751,216 (GRCm39) |
K257M |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm12790 |
A |
G |
4: 101,824,713 (GRCm39) |
V185A |
possibly damaging |
Het |
| Gm7361 |
A |
G |
5: 26,465,411 (GRCm39) |
N136S |
probably benign |
Het |
| Insyn2b |
A |
G |
11: 34,352,819 (GRCm39) |
D287G |
possibly damaging |
Het |
| Itgam |
A |
T |
7: 127,684,114 (GRCm39) |
T340S |
probably benign |
Het |
| Ktn1 |
A |
T |
14: 47,901,428 (GRCm39) |
N62I |
probably damaging |
Het |
| Ldb2 |
A |
G |
5: 44,690,007 (GRCm39) |
L204P |
probably damaging |
Het |
| Map2k4 |
T |
C |
11: 65,597,842 (GRCm39) |
T90A |
possibly damaging |
Het |
| Mettl3 |
A |
T |
14: 52,535,428 (GRCm39) |
D287E |
probably benign |
Het |
| Mier2 |
A |
G |
10: 79,380,576 (GRCm39) |
F278S |
probably damaging |
Het |
| Mis18bp1 |
A |
G |
12: 65,195,937 (GRCm39) |
M609T |
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,448,338 (GRCm39) |
V929D |
probably damaging |
Het |
| Naprt |
A |
T |
15: 75,763,828 (GRCm39) |
M364K |
probably benign |
Het |
| Nod2 |
T |
A |
8: 89,397,088 (GRCm39) |
C833S |
probably benign |
Het |
| Nrip3 |
C |
T |
7: 109,362,686 (GRCm39) |
|
probably null |
Het |
| Ntsr2 |
A |
G |
12: 16,708,426 (GRCm39) |
Y320C |
probably damaging |
Het |
| Or14j8 |
G |
A |
17: 38,263,315 (GRCm39) |
S200F |
possibly damaging |
Het |
| Or4p7 |
C |
A |
2: 88,221,877 (GRCm39) |
C95* |
probably null |
Het |
| Or51h1 |
G |
A |
7: 102,308,854 (GRCm39) |
M275I |
probably benign |
Het |
| Osbpl3 |
A |
T |
6: 50,325,063 (GRCm39) |
|
probably null |
Het |
| Pcdhb3 |
C |
T |
18: 37,434,699 (GRCm39) |
R222C |
probably damaging |
Het |
| Pik3cd |
G |
T |
4: 149,744,200 (GRCm39) |
R184S |
probably benign |
Het |
| Pramel32 |
T |
C |
4: 88,548,291 (GRCm39) |
E38G |
probably damaging |
Het |
| Rad50 |
A |
T |
11: 53,560,597 (GRCm39) |
|
probably null |
Het |
| Rad51ap2 |
A |
T |
12: 11,507,560 (GRCm39) |
H494L |
probably benign |
Het |
| Rbm25 |
T |
C |
12: 83,722,863 (GRCm39) |
M762T |
probably damaging |
Het |
| Sars1 |
G |
T |
3: 108,335,590 (GRCm39) |
S338* |
probably null |
Het |
| Usp35 |
T |
C |
7: 96,975,155 (GRCm39) |
E6G |
probably damaging |
Het |
| Vash2 |
T |
C |
1: 190,692,422 (GRCm39) |
Y251C |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wdr20 |
T |
A |
12: 110,763,443 (GRCm39) |
|
probably benign |
Het |
| Wfdc1 |
G |
A |
8: 120,406,146 (GRCm39) |
C87Y |
probably damaging |
Het |
| Zfp985 |
T |
A |
4: 147,667,805 (GRCm39) |
H224Q |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGTGTGCATACCTGTGAATTC -3'
(R):5'- TCTAGGGCTGTGATCTTCCC -3'
Sequencing Primer
(F):5'- GTGTGCATACCTGTGAATTCACTCTG -3'
(R):5'- CATAGCCTGTGGGAATGACCTG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation