Incidental Mutation 'IGL02718:Il31ra'
| ID |
304871 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Il31ra
|
| Ensembl Gene |
ENSMUSG00000050377 |
| Gene Name |
interleukin 31 receptor A |
| Synonyms |
GLM-R, GPL |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02718
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
112649439-112717266 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 112666903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 392
(R392*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051756]
[ENSMUST00000223752]
[ENSMUST00000223819]
[ENSMUST00000224510]
[ENSMUST00000224576]
|
| AlphaFold |
Q8K5B1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000051756
AA Change: R473*
|
| SMART Domains |
Protein: ENSMUSP00000058045
Gene: ENSMUSG00000050377
AA Change: R473*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
FN3
|
115 |
198 |
7.75e0 |
SMART |
|
Blast:FN3
|
216 |
297 |
1e-40 |
BLAST |
|
FN3
|
325 |
394 |
1.15e1 |
SMART |
|
FN3
|
408 |
490 |
7.18e-3 |
SMART |
|
low complexity region
|
508 |
522 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223577
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223752
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223819
AA Change: R500*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224070
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224510
AA Change: R392*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224576
|
| 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 belongs to the type I cytokine receptor family. This receptor, with homology to gp130, is expressed on monocytes, and is involved in IL-31 signaling via activation of STAT-3 and STAT-5. It functions either as a monomer, or as part of a receptor complex with oncostatin M receptor (OSMR). Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygous null mice display no apparent abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002J24Rik |
A |
G |
7: 30,399,329 (GRCm39) |
D41G |
probably damaging |
Het |
| 2210408I21Rik |
T |
A |
13: 77,322,991 (GRCm39) |
Y7N |
probably damaging |
Het |
| Atf1 |
C |
A |
15: 100,152,100 (GRCm39) |
Q151K |
probably damaging |
Het |
| Brdt |
T |
C |
5: 107,497,934 (GRCm39) |
|
probably benign |
Het |
| Cep295 |
T |
C |
9: 15,237,049 (GRCm39) |
|
probably null |
Het |
| Ctnnd2 |
A |
G |
15: 31,027,762 (GRCm39) |
S1229G |
probably damaging |
Het |
| Dcaf15 |
T |
A |
8: 84,825,005 (GRCm39) |
I476L |
possibly damaging |
Het |
| Dlec1 |
A |
G |
9: 118,966,354 (GRCm39) |
I1108V |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,777,466 (GRCm39) |
H3694L |
probably damaging |
Het |
| Dock10 |
A |
T |
1: 80,501,535 (GRCm39) |
D1838E |
probably benign |
Het |
| Dusp12 |
A |
T |
1: 170,708,226 (GRCm39) |
Y164N |
probably damaging |
Het |
| Ephx1 |
A |
G |
1: 180,827,351 (GRCm39) |
F101L |
probably damaging |
Het |
| Fbn1 |
C |
A |
2: 125,211,806 (GRCm39) |
C864F |
probably damaging |
Het |
| Fbxw24 |
T |
C |
9: 109,453,858 (GRCm39) |
E96G |
possibly damaging |
Het |
| Glt1d1 |
C |
A |
5: 127,727,763 (GRCm39) |
F78L |
probably damaging |
Het |
| Gm9602 |
A |
T |
14: 15,932,620 (GRCm39) |
R21* |
probably null |
Het |
| Grip1 |
T |
A |
10: 119,911,420 (GRCm39) |
*713K |
probably null |
Het |
| Hecw1 |
T |
C |
13: 14,481,520 (GRCm39) |
|
probably null |
Het |
| L3hypdh |
T |
G |
12: 72,131,630 (GRCm39) |
S101R |
probably damaging |
Het |
| Lpar5 |
T |
A |
6: 125,059,207 (GRCm39) |
D309E |
probably damaging |
Het |
| Masp1 |
T |
C |
16: 23,295,043 (GRCm39) |
Y406C |
probably damaging |
Het |
| Mpdz |
T |
C |
4: 81,303,439 (GRCm39) |
I166M |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,539,483 (GRCm39) |
Y2759* |
probably null |
Het |
| Ncf1 |
A |
T |
5: 134,256,302 (GRCm39) |
|
probably null |
Het |
| Nek5 |
T |
G |
8: 22,587,479 (GRCm39) |
R314S |
probably benign |
Het |
| Nifk |
A |
C |
1: 118,255,362 (GRCm39) |
N38T |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,968,684 (GRCm39) |
V2772M |
probably damaging |
Het |
| Or10g9 |
A |
T |
9: 39,912,182 (GRCm39) |
Y114N |
probably damaging |
Het |
| Or10z1 |
G |
T |
1: 174,078,273 (GRCm39) |
Y73* |
probably null |
Het |
| Or2b28 |
T |
C |
13: 21,531,554 (GRCm39) |
L152P |
probably damaging |
Het |
| Or2d3 |
A |
T |
7: 106,490,536 (GRCm39) |
M260K |
probably damaging |
Het |
| Or52r1c |
C |
A |
7: 102,734,790 (GRCm39) |
L22I |
probably benign |
Het |
| Or5k17 |
T |
C |
16: 58,746,459 (GRCm39) |
I158M |
possibly damaging |
Het |
| Pbxip1 |
A |
G |
3: 89,355,311 (GRCm39) |
E610G |
probably damaging |
Het |
| Pfas |
G |
T |
11: 68,890,971 (GRCm39) |
|
probably benign |
Het |
| Plk4 |
T |
C |
3: 40,769,456 (GRCm39) |
S102P |
probably damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,001,348 (GRCm39) |
T1146I |
possibly damaging |
Het |
| Pum2 |
T |
A |
12: 8,783,344 (GRCm39) |
S598T |
probably benign |
Het |
| Ric1 |
T |
A |
19: 29,510,640 (GRCm39) |
W74R |
probably damaging |
Het |
| Riok3 |
C |
A |
18: 12,286,053 (GRCm39) |
S427* |
probably null |
Het |
| Ros1 |
A |
T |
10: 51,994,328 (GRCm39) |
D1317E |
probably damaging |
Het |
| Sfmbt2 |
A |
G |
2: 10,406,842 (GRCm39) |
D47G |
possibly damaging |
Het |
| Slc12a1 |
C |
T |
2: 125,002,999 (GRCm39) |
R177* |
probably null |
Het |
| Snai3 |
C |
A |
8: 123,182,861 (GRCm39) |
|
probably null |
Het |
| Snx19 |
A |
G |
9: 30,343,556 (GRCm39) |
N572S |
possibly damaging |
Het |
| Soat1 |
A |
T |
1: 156,268,999 (GRCm39) |
S151T |
probably benign |
Het |
| Spmip4 |
G |
T |
6: 50,561,367 (GRCm39) |
T184K |
probably damaging |
Het |
| Stbd1 |
A |
G |
5: 92,751,077 (GRCm39) |
E37G |
possibly damaging |
Het |
| Syt10 |
A |
G |
15: 89,698,282 (GRCm39) |
I354T |
probably damaging |
Het |
| Trip11 |
A |
C |
12: 101,852,284 (GRCm39) |
S593R |
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,745,364 (GRCm39) |
E908G |
probably damaging |
Het |
| Yy1 |
T |
C |
12: 108,781,405 (GRCm39) |
F357L |
probably damaging |
Het |
|
| Other mutations in Il31ra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Il31ra
|
APN |
13 |
112,684,012 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00639:Il31ra
|
APN |
13 |
112,686,093 (GRCm39) |
nonsense |
probably null |
|
|
IGL01640:Il31ra
|
APN |
13 |
112,668,292 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02009:Il31ra
|
APN |
13 |
112,670,401 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02431:Il31ra
|
APN |
13 |
112,666,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02675:Il31ra
|
APN |
13 |
112,660,886 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03388:Il31ra
|
APN |
13 |
112,682,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03408:Il31ra
|
APN |
13 |
112,662,422 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0482:Il31ra
|
UTSW |
13 |
112,664,015 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0639:Il31ra
|
UTSW |
13 |
112,662,377 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0905:Il31ra
|
UTSW |
13 |
112,668,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0948:Il31ra
|
UTSW |
13 |
112,666,912 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1420:Il31ra
|
UTSW |
13 |
112,668,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1538:Il31ra
|
UTSW |
13 |
112,684,000 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1776:Il31ra
|
UTSW |
13 |
112,677,773 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1931:Il31ra
|
UTSW |
13 |
112,677,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2006:Il31ra
|
UTSW |
13 |
112,666,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2134:Il31ra
|
UTSW |
13 |
112,680,422 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3103:Il31ra
|
UTSW |
13 |
112,666,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4089:Il31ra
|
UTSW |
13 |
112,688,453 (GRCm39) |
nonsense |
probably null |
|
|
R4742:Il31ra
|
UTSW |
13 |
112,660,501 (GRCm39) |
nonsense |
probably null |
|
|
R4787:Il31ra
|
UTSW |
13 |
112,664,079 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5154:Il31ra
|
UTSW |
13 |
112,660,531 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5193:Il31ra
|
UTSW |
13 |
112,660,864 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5402:Il31ra
|
UTSW |
13 |
112,660,669 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5743:Il31ra
|
UTSW |
13 |
112,664,021 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5917:Il31ra
|
UTSW |
13 |
112,682,846 (GRCm39) |
missense |
probably benign |
|
|
R6126:Il31ra
|
UTSW |
13 |
112,666,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6414:Il31ra
|
UTSW |
13 |
112,660,441 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6580:Il31ra
|
UTSW |
13 |
112,688,476 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6727:Il31ra
|
UTSW |
13 |
112,683,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6783:Il31ra
|
UTSW |
13 |
112,688,522 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6912:Il31ra
|
UTSW |
13 |
112,685,998 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6925:Il31ra
|
UTSW |
13 |
112,664,063 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7187:Il31ra
|
UTSW |
13 |
112,682,845 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7210:Il31ra
|
UTSW |
13 |
112,686,034 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7236:Il31ra
|
UTSW |
13 |
112,660,439 (GRCm39) |
makesense |
probably null |
|
|
R7323:Il31ra
|
UTSW |
13 |
112,688,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7618:Il31ra
|
UTSW |
13 |
112,688,514 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7783:Il31ra
|
UTSW |
13 |
112,677,785 (GRCm39) |
missense |
probably benign |
|
|
R8353:Il31ra
|
UTSW |
13 |
112,660,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8453:Il31ra
|
UTSW |
13 |
112,660,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8679:Il31ra
|
UTSW |
13 |
112,662,372 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8890:Il31ra
|
UTSW |
13 |
112,660,861 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9032:Il31ra
|
UTSW |
13 |
112,660,628 (GRCm39) |
missense |
|
|
|
R9077:Il31ra
|
UTSW |
13 |
112,670,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9085:Il31ra
|
UTSW |
13 |
112,660,628 (GRCm39) |
missense |
|
|
|
R9147:Il31ra
|
UTSW |
13 |
112,670,276 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9148:Il31ra
|
UTSW |
13 |
112,670,276 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9158:Il31ra
|
UTSW |
13 |
112,670,394 (GRCm39) |
nonsense |
probably null |
|
|
R9178:Il31ra
|
UTSW |
13 |
112,677,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9250:Il31ra
|
UTSW |
13 |
112,669,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9260:Il31ra
|
UTSW |
13 |
112,668,202 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9312:Il31ra
|
UTSW |
13 |
112,686,023 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9381:Il31ra
|
UTSW |
13 |
112,668,253 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Posted On |
2015-04-16 |
Incidental Mutation