Incidental Mutation 'R0948:Il31ra'
| ID |
81729 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il31ra
|
| Ensembl Gene |
ENSMUSG00000050377 |
| Gene Name |
interleukin 31 receptor A |
| Synonyms |
GLM-R, GPL |
| MMRRC Submission |
039087-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0948 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
112649439-112717266 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 112666912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 470
(S470P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058045
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051756]
[ENSMUST00000223752]
[ENSMUST00000223819]
[ENSMUST00000224510]
[ENSMUST00000224576]
|
| AlphaFold |
Q8K5B1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051756
AA Change: S470P
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000058045
Gene: ENSMUSG00000050377
AA Change: S470P
| 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 |
possibly damaging
Transcript: ENSMUST00000223819
AA Change: S497P
PolyPhen 2
Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224070
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224510
AA Change: S389P
PolyPhen 2
Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224576
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.4%
- 20x: 92.4%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009A15Rik |
C |
T |
19: 8,867,390 (GRCm39) |
T63M |
probably damaging |
Het |
| Abcb1a |
T |
A |
5: 8,790,621 (GRCm39) |
|
probably null |
Het |
| Ahrr |
T |
C |
13: 74,361,888 (GRCm39) |
D537G |
probably damaging |
Het |
| Anxa4 |
T |
A |
6: 86,718,913 (GRCm39) |
I269F |
probably damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,953,278 (GRCm39) |
Y401C |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,407,258 (GRCm39) |
M1160K |
probably benign |
Het |
| Ccdc175 |
A |
G |
12: 72,177,897 (GRCm39) |
Y434H |
probably damaging |
Het |
| Col19a1 |
C |
T |
1: 24,335,882 (GRCm39) |
A855T |
probably damaging |
Het |
| Cyp2a4 |
A |
G |
7: 26,010,213 (GRCm39) |
D246G |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,694,847 (GRCm39) |
L840P |
possibly damaging |
Het |
| Dock6 |
A |
T |
9: 21,712,829 (GRCm39) |
D2009E |
probably damaging |
Het |
| E2f3 |
C |
T |
13: 30,169,516 (GRCm39) |
A46T |
probably damaging |
Het |
| Ect2l |
A |
T |
10: 18,016,334 (GRCm39) |
C635S |
probably damaging |
Het |
| Fer1l6 |
A |
G |
15: 58,435,924 (GRCm39) |
D439G |
probably benign |
Het |
| Hao1 |
A |
C |
2: 134,372,693 (GRCm39) |
M105R |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,238,525 (GRCm39) |
I552T |
probably damaging |
Het |
| Mfsd1 |
A |
G |
3: 67,504,067 (GRCm39) |
N353S |
possibly damaging |
Het |
| Mga |
T |
A |
2: 119,772,140 (GRCm39) |
F1667I |
possibly damaging |
Het |
| Niban2 |
A |
G |
2: 32,812,872 (GRCm39) |
Y480C |
probably damaging |
Het |
| Nwd2 |
T |
C |
5: 63,964,655 (GRCm39) |
V1413A |
probably damaging |
Het |
| Or8b1 |
T |
G |
9: 38,400,244 (GRCm39) |
S306R |
probably benign |
Het |
| Or8b50 |
G |
A |
9: 38,517,787 (GRCm39) |
V9I |
possibly damaging |
Het |
| Osbpl10 |
T |
A |
9: 114,996,187 (GRCm39) |
V119E |
probably damaging |
Het |
| Plec |
C |
A |
15: 76,089,887 (GRCm39) |
R151L |
probably benign |
Het |
| Ptpn12 |
T |
C |
5: 21,203,041 (GRCm39) |
H579R |
probably benign |
Het |
| Rnase4 |
G |
T |
14: 51,342,362 (GRCm39) |
G29C |
probably damaging |
Het |
| Sim1 |
C |
A |
10: 50,857,423 (GRCm39) |
S391* |
probably null |
Het |
| Sobp |
A |
T |
10: 42,898,205 (GRCm39) |
I460N |
probably damaging |
Het |
| Spns3 |
A |
T |
11: 72,436,766 (GRCm39) |
D75E |
probably damaging |
Het |
| Strn4 |
T |
A |
7: 16,571,638 (GRCm39) |
C26* |
probably null |
Het |
| Tacstd2 |
T |
A |
6: 67,512,102 (GRCm39) |
I197L |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,610,416 (GRCm39) |
T295A |
possibly damaging |
Het |
| Txnl1 |
G |
T |
18: 63,825,191 (GRCm39) |
S18R |
possibly damaging |
Het |
| U2surp |
A |
G |
9: 95,343,550 (GRCm39) |
|
probably benign |
Het |
| Ube2frt |
A |
T |
12: 36,140,934 (GRCm39) |
|
probably benign |
Het |
| Vwce |
A |
G |
19: 10,630,441 (GRCm39) |
Y500C |
probably damaging |
Het |
| Wdr49 |
A |
C |
3: 75,358,158 (GRCm39) |
S196A |
probably benign |
Het |
| Wfs1 |
T |
C |
5: 37,124,905 (GRCm39) |
Y662C |
probably damaging |
Het |
| Wnt8b |
A |
C |
19: 44,498,968 (GRCm39) |
D133A |
possibly damaging |
Het |
| Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
probably benign |
Het |
| Zfp532 |
C |
A |
18: 65,756,889 (GRCm39) |
A274E |
probably damaging |
Het |
| Zfp74 |
A |
G |
7: 29,635,362 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTGCTTACCAGCAAGGATCAAA -3'
(R):5'- AGCCTGAGTTTTCCCaggggtat -3'
Sequencing Primer
(F):5'- CAAAATGGCCTGTTGGTCTAACTC -3'
(R):5'- cttcagagaaagaacttcatcacc -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation