Incidental Mutation 'IGL00095:Il31ra'
| ID |
993 |
| 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 # |
IGL00095
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
112649439-112717266 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 112684012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 120
(I120N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153298
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051756]
[ENSMUST00000223752]
[ENSMUST00000223819]
[ENSMUST00000224510]
[ENSMUST00000224576]
[ENSMUST00000225397]
|
| AlphaFold |
Q8K5B1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051756
AA Change: I120N
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000058045
Gene: ENSMUSG00000050377
AA Change: I120N
| 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 |
probably benign
Transcript: ENSMUST00000223752
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223819
AA Change: I147N
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224070
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224510
AA Change: I39N
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224576
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225397
AA Change: I120N
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cadm2 |
A |
T |
16: 66,679,639 (GRCm39) |
Y65N |
probably damaging |
Het |
| Catsperg2 |
C |
A |
7: 29,397,483 (GRCm39) |
C1042F |
possibly damaging |
Het |
| Cluh |
T |
C |
11: 74,554,890 (GRCm39) |
V776A |
probably benign |
Het |
| Crxos |
T |
A |
7: 15,632,543 (GRCm39) |
C116* |
probably null |
Het |
| Csmd1 |
A |
G |
8: 16,059,297 (GRCm39) |
|
probably benign |
Het |
| Cubn |
C |
A |
2: 13,496,631 (GRCm39) |
|
probably benign |
Het |
| Exoc2 |
A |
G |
13: 31,004,609 (GRCm39) |
I858T |
probably benign |
Het |
| Frmpd1 |
C |
A |
4: 45,279,456 (GRCm39) |
T727K |
possibly damaging |
Het |
| Hapln3 |
T |
C |
7: 78,771,731 (GRCm39) |
T53A |
probably damaging |
Het |
| Hnrnpul1 |
T |
A |
7: 25,425,579 (GRCm39) |
Q584L |
possibly damaging |
Het |
| Ikbkb |
A |
T |
8: 23,196,127 (GRCm39) |
F26I |
probably damaging |
Het |
| Itih1 |
C |
T |
14: 30,651,778 (GRCm39) |
V855M |
probably benign |
Het |
| Krtap4-16 |
A |
G |
11: 99,742,032 (GRCm39) |
S123P |
possibly damaging |
Het |
| Large1 |
C |
T |
8: 73,564,125 (GRCm39) |
R547Q |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,006,111 (GRCm39) |
|
probably benign |
Het |
| Mark1 |
A |
G |
1: 184,630,800 (GRCm39) |
V770A |
probably damaging |
Het |
| Mpeg1 |
T |
C |
19: 12,440,074 (GRCm39) |
F511L |
probably benign |
Het |
| Mrgpra9 |
A |
G |
7: 46,884,839 (GRCm39) |
V276A |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,677,594 (GRCm39) |
T666A |
probably damaging |
Het |
| Ndufa8 |
T |
C |
2: 35,934,467 (GRCm39) |
D37G |
probably damaging |
Het |
| Nlrx1 |
A |
G |
9: 44,164,576 (GRCm39) |
L956P |
probably damaging |
Het |
| Nr5a1 |
T |
C |
2: 38,598,353 (GRCm39) |
E148G |
probably benign |
Het |
| Or10ab5 |
A |
T |
7: 108,245,043 (GRCm39) |
F247I |
possibly damaging |
Het |
| Or14c46 |
T |
C |
7: 85,918,877 (GRCm39) |
N40S |
probably damaging |
Het |
| Otulinl |
A |
G |
15: 27,658,202 (GRCm39) |
S273P |
possibly damaging |
Het |
| Patj |
A |
C |
4: 98,423,799 (GRCm39) |
Q1184P |
possibly damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,500,884 (GRCm39) |
T619A |
probably benign |
Het |
| Pla2g6 |
T |
C |
15: 79,173,441 (GRCm39) |
T643A |
probably damaging |
Het |
| Pramel42 |
T |
C |
5: 94,685,663 (GRCm39) |
L441P |
probably damaging |
Het |
| Radil |
A |
G |
5: 142,483,677 (GRCm39) |
S510P |
probably damaging |
Het |
| Spock1 |
A |
G |
13: 57,735,552 (GRCm39) |
|
probably benign |
Het |
| Stag3 |
C |
T |
5: 138,297,400 (GRCm39) |
T577M |
probably damaging |
Het |
| Tap2 |
C |
T |
17: 34,434,352 (GRCm39) |
R613C |
probably benign |
Het |
| Tnn |
A |
G |
1: 159,953,021 (GRCm39) |
V673A |
possibly damaging |
Het |
| Trrap |
T |
C |
5: 144,716,784 (GRCm39) |
|
probably benign |
Het |
| Vmn2r28 |
T |
C |
7: 5,491,068 (GRCm39) |
D393G |
probably benign |
Het |
| Zbtb48 |
T |
C |
4: 152,105,851 (GRCm39) |
H418R |
probably damaging |
Het |
| Zc3h12d |
T |
C |
10: 7,738,231 (GRCm39) |
V179A |
probably damaging |
Het |
|
| Other mutations in Il31ra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02718:Il31ra
|
APN |
13 |
112,666,903 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2011-07-12 |
Incidental Mutation