Incidental Mutation 'R2134:Il31ra'
| ID |
233664 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il31ra
|
| Ensembl Gene |
ENSMUSG00000050377 |
| Gene Name |
interleukin 31 receptor A |
| Synonyms |
GLM-R, GPL |
| MMRRC Submission |
040137-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2134 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
112649439-112717266 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112680422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 265
(K265R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152979
(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: K238R
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000058045
Gene: ENSMUSG00000050377
AA Change: K238R
| 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: K265R
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224070
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224510
AA Change: K157R
PolyPhen 2
Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224576
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225397
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,921,743 (GRCm39) |
V1437E |
probably null |
Het |
| Adam12 |
G |
A |
7: 133,614,017 (GRCm39) |
R80* |
probably null |
Het |
| Adgrb3 |
G |
T |
1: 25,133,038 (GRCm39) |
F479L |
probably damaging |
Het |
| Atf7ip |
T |
A |
6: 136,582,485 (GRCm39) |
V1165E |
possibly damaging |
Het |
| Atm |
C |
T |
9: 53,379,264 (GRCm39) |
|
probably null |
Het |
| Atp11c |
A |
G |
X: 59,322,143 (GRCm39) |
Y593H |
probably damaging |
Het |
| Btnl1 |
A |
G |
17: 34,604,608 (GRCm39) |
D463G |
possibly damaging |
Het |
| Cdc34b |
T |
G |
11: 94,633,252 (GRCm39) |
W151G |
probably damaging |
Het |
| Cdkal1 |
A |
G |
13: 29,538,660 (GRCm39) |
S500P |
possibly damaging |
Het |
| Cenpf |
T |
C |
1: 189,390,839 (GRCm39) |
N998D |
probably benign |
Het |
| Ces2e |
T |
A |
8: 105,659,171 (GRCm39) |
|
probably null |
Het |
| Chd7 |
A |
G |
4: 8,753,147 (GRCm39) |
Q548R |
probably damaging |
Het |
| Chfr |
T |
A |
5: 110,292,627 (GRCm39) |
|
probably null |
Het |
| Clu |
A |
G |
14: 66,212,290 (GRCm39) |
|
probably null |
Het |
| Cntnap5c |
A |
G |
17: 58,714,717 (GRCm39) |
D1235G |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,943,860 (GRCm39) |
S1205G |
probably benign |
Het |
| Ddx47 |
G |
T |
6: 134,992,313 (GRCm39) |
E113* |
probably null |
Het |
| Dock4 |
A |
G |
12: 40,795,667 (GRCm39) |
Y828C |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,623,065 (GRCm39) |
N3553K |
possibly damaging |
Het |
| Egflam |
C |
T |
15: 7,263,760 (GRCm39) |
C730Y |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,398,298 (GRCm39) |
Y935C |
probably damaging |
Het |
| Fam83g |
A |
G |
11: 61,594,510 (GRCm39) |
I681M |
probably benign |
Het |
| Fastk |
T |
C |
5: 24,650,139 (GRCm39) |
R3G |
probably damaging |
Het |
| Fxr1 |
A |
T |
3: 34,112,196 (GRCm39) |
E367D |
probably damaging |
Het |
| Gatb |
A |
G |
3: 85,518,677 (GRCm39) |
D261G |
probably damaging |
Het |
| Gm5617 |
T |
C |
9: 48,407,117 (GRCm39) |
S84P |
possibly damaging |
Het |
| Hecw1 |
C |
T |
13: 14,552,285 (GRCm39) |
E104K |
probably damaging |
Het |
| Khsrp |
GTCATT |
GT |
17: 57,331,410 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
A |
2: 69,341,411 (GRCm39) |
D923V |
probably damaging |
Het |
| Ltn1 |
A |
G |
16: 87,179,601 (GRCm39) |
L1520P |
probably damaging |
Het |
| Magel2 |
G |
A |
7: 62,028,844 (GRCm39) |
V583I |
unknown |
Het |
| Map1s |
T |
G |
8: 71,366,526 (GRCm39) |
V477G |
probably benign |
Het |
| Mical1 |
T |
C |
10: 41,358,708 (GRCm39) |
L542P |
probably damaging |
Het |
| Mtcl3 |
T |
A |
10: 29,072,395 (GRCm39) |
Y562* |
probably null |
Het |
| Mycbp2 |
T |
C |
14: 103,446,329 (GRCm39) |
Y1800C |
probably damaging |
Het |
| Mylk |
A |
T |
16: 34,806,846 (GRCm39) |
D1697V |
probably benign |
Het |
| Nlrp1a |
A |
T |
11: 71,015,014 (GRCm39) |
F79I |
probably benign |
Het |
| Or52d3 |
T |
C |
7: 104,228,848 (GRCm39) |
|
probably benign |
Het |
| Pde9a |
A |
G |
17: 31,605,284 (GRCm39) |
Y6C |
probably damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,934,509 (GRCm39) |
I1808N |
probably damaging |
Het |
| Ppp1r13b |
T |
A |
12: 111,800,167 (GRCm39) |
T537S |
probably benign |
Het |
| Ppp2r2a |
A |
G |
14: 67,253,924 (GRCm39) |
F415L |
possibly damaging |
Het |
| Rabgap1 |
C |
T |
2: 37,453,499 (GRCm39) |
R976* |
probably null |
Het |
| Rbfox3 |
T |
C |
11: 118,387,842 (GRCm39) |
H195R |
probably damaging |
Het |
| Ripk4 |
A |
T |
16: 97,544,933 (GRCm39) |
D571E |
probably damaging |
Het |
| Sdhaf4 |
T |
A |
1: 24,044,634 (GRCm39) |
R16S |
probably benign |
Het |
| Slc17a1 |
G |
T |
13: 24,059,658 (GRCm39) |
G130* |
probably null |
Het |
| Slc6a1 |
G |
T |
6: 114,278,977 (GRCm39) |
A23S |
probably benign |
Het |
| Slco1a8 |
T |
C |
6: 141,926,704 (GRCm39) |
I541V |
probably damaging |
Het |
| Spock1 |
T |
A |
13: 57,583,952 (GRCm39) |
Q321L |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,999,560 (GRCm39) |
I2318V |
probably damaging |
Het |
| Terf2ip |
T |
C |
8: 112,738,271 (GRCm39) |
V53A |
possibly damaging |
Het |
| Thrb |
T |
C |
14: 18,033,487 (GRCm38) |
F403L |
probably benign |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Uqcrfs1 |
T |
C |
13: 30,724,787 (GRCm39) |
K251R |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,792,085 (GRCm39) |
E57G |
possibly damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,510,737 (GRCm39) |
Y581F |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,874,909 (GRCm39) |
V1866A |
probably benign |
Het |
| Washc5 |
A |
T |
15: 59,241,083 (GRCm39) |
F84Y |
probably damaging |
Het |
| Yars1 |
T |
A |
4: 129,090,992 (GRCm39) |
Y28* |
probably null |
Het |
| Zfp638 |
A |
G |
6: 83,905,964 (GRCm39) |
Y43C |
probably damaging |
Het |
| Zfp750 |
T |
A |
11: 121,404,758 (GRCm39) |
H39L |
probably damaging |
Het |
| Zfr2 |
C |
A |
10: 81,078,735 (GRCm39) |
S322R |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,771,450 (GRCm39) |
D1644G |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTATGGGGAGTCTCAGACCTAC -3'
(R):5'- GTTGAGCACTGTAAGGCTCAC -3'
Sequencing Primer
(F):5'- TACACAACAACTGGGAGCTTTG -3'
(R):5'- GCACTGTAAGGCTCACCCTCTC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation