Incidental Mutation 'R9158:Il31ra'
ID |
695532 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il31ra
|
Ensembl Gene |
ENSMUSG00000050377 |
Gene Name |
interleukin 31 receptor A |
Synonyms |
GLM-R, GPL |
MMRRC Submission |
068942-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9158 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
112649439-112717266 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 112670394 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 331
(W331*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058045
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051756]
[ENSMUST00000223752]
[ENSMUST00000223819]
[ENSMUST00000224510]
[ENSMUST00000224576]
|
AlphaFold |
Q8K5B1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000051756
AA Change: W331*
|
SMART Domains |
Protein: ENSMUSP00000058045 Gene: ENSMUSG00000050377 AA Change: W331*
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 |
probably null
Transcript: ENSMUST00000223819
AA Change: W358*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000224510
AA Change: W250*
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224576
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
100% (62/62) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
G |
A |
8: 41,208,645 (GRCm39) |
C637Y |
probably damaging |
Het |
Ahdc1 |
A |
G |
4: 132,792,505 (GRCm39) |
T1249A |
possibly damaging |
Het |
Alkbh3 |
A |
G |
2: 93,835,082 (GRCm39) |
S88P |
probably damaging |
Het |
Ankrd17 |
C |
A |
5: 90,416,575 (GRCm39) |
A1086S |
probably damaging |
Het |
Ankzf1 |
T |
A |
1: 75,173,020 (GRCm39) |
V372E |
probably damaging |
Het |
Apbb1ip |
T |
C |
2: 22,764,951 (GRCm39) |
V544A |
probably benign |
Het |
Atp13a2 |
T |
C |
4: 140,724,112 (GRCm39) |
|
probably null |
Het |
Cacna2d1 |
A |
G |
5: 16,140,039 (GRCm39) |
T10A |
probably benign |
Het |
Cadps |
T |
C |
14: 12,546,356 (GRCm38) |
N500S |
probably benign |
Het |
Casp16 |
A |
G |
17: 23,769,948 (GRCm39) |
|
probably benign |
Het |
Cdh22 |
T |
A |
2: 165,012,627 (GRCm39) |
I153F |
probably damaging |
Het |
Clip2 |
T |
C |
5: 134,521,251 (GRCm39) |
E964G |
probably benign |
Het |
Cracdl |
A |
T |
1: 37,670,442 (GRCm39) |
M166K |
probably damaging |
Het |
Cryga |
T |
C |
1: 65,142,198 (GRCm39) |
D65G |
probably benign |
Het |
Dap3 |
A |
G |
3: 88,832,637 (GRCm39) |
Y357H |
probably damaging |
Het |
Eef2 |
C |
T |
10: 81,014,693 (GRCm39) |
|
probably benign |
Het |
Gja4 |
A |
G |
4: 127,206,466 (GRCm39) |
L99P |
probably damaging |
Het |
Glb1l3 |
A |
T |
9: 26,765,005 (GRCm39) |
Y135* |
probably null |
Het |
Gm5114 |
T |
G |
7: 39,060,486 (GRCm39) |
D121A |
probably damaging |
Het |
Gm6525 |
A |
G |
3: 84,082,255 (GRCm39) |
K59E |
probably benign |
Het |
Herc1 |
C |
T |
9: 66,376,400 (GRCm39) |
L3407F |
probably benign |
Het |
Hmgcr |
G |
A |
13: 96,792,170 (GRCm39) |
R589* |
probably null |
Het |
Iglv3 |
A |
C |
16: 19,060,012 (GRCm39) |
D105E |
probably damaging |
Het |
Il1r1 |
G |
A |
1: 40,332,391 (GRCm39) |
W60* |
probably null |
Het |
Inca1 |
C |
T |
11: 70,581,376 (GRCm39) |
C16Y |
probably damaging |
Het |
Inpp4a |
A |
G |
1: 37,442,552 (GRCm39) |
T628A |
possibly damaging |
Het |
Kdm2a |
C |
G |
19: 4,374,715 (GRCm39) |
R805S |
possibly damaging |
Het |
Kel |
T |
A |
6: 41,664,905 (GRCm39) |
I620L |
probably benign |
Het |
Kmt2d |
C |
T |
15: 98,741,020 (GRCm39) |
G4638R |
unknown |
Het |
Lilrb4b |
T |
A |
10: 51,357,829 (GRCm39) |
N174K |
possibly damaging |
Het |
Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
Ltf |
T |
A |
9: 110,868,003 (GRCm39) |
V615E |
probably damaging |
Het |
Map7d1 |
G |
T |
4: 126,130,478 (GRCm39) |
Q443K |
possibly damaging |
Het |
Mapk9 |
A |
G |
11: 49,745,095 (GRCm39) |
D3G |
probably benign |
Het |
Nktr |
T |
G |
9: 121,582,154 (GRCm39) |
S1424A |
unknown |
Het |
Npas1 |
A |
G |
7: 16,195,333 (GRCm39) |
S332P |
possibly damaging |
Het |
Or13a25 |
T |
C |
7: 140,247,547 (GRCm39) |
S109P |
possibly damaging |
Het |
Or52n2c |
T |
C |
7: 104,574,086 (GRCm39) |
Y295C |
probably damaging |
Het |
Or5ak4 |
A |
G |
2: 85,161,348 (GRCm39) |
I298T |
probably benign |
Het |
Or6d12 |
T |
C |
6: 116,492,791 (GRCm39) |
F18L |
possibly damaging |
Het |
Or8b12b |
C |
A |
9: 37,684,800 (GRCm39) |
P282T |
probably damaging |
Het |
Pcdh8 |
A |
G |
14: 80,005,182 (GRCm39) |
W948R |
probably damaging |
Het |
Pde3a |
A |
G |
6: 141,195,614 (GRCm39) |
E100G |
probably benign |
Het |
Phrf1 |
T |
A |
7: 140,836,466 (GRCm39) |
V246D |
unknown |
Het |
Pitpnb |
A |
T |
5: 111,530,876 (GRCm39) |
N223I |
probably damaging |
Het |
Pkd1l3 |
A |
T |
8: 110,394,207 (GRCm39) |
R2065* |
probably null |
Het |
Prepl |
T |
C |
17: 85,383,379 (GRCm39) |
D355G |
possibly damaging |
Het |
Runx2 |
A |
G |
17: 45,046,508 (GRCm39) |
V5A |
probably benign |
Het |
Sema4g |
T |
A |
19: 44,986,846 (GRCm39) |
V433D |
possibly damaging |
Het |
Sema6a |
C |
T |
18: 47,431,330 (GRCm39) |
V123I |
probably damaging |
Het |
Senp6 |
A |
G |
9: 79,994,732 (GRCm39) |
K24E |
probably benign |
Het |
Slc22a8 |
T |
A |
19: 8,583,427 (GRCm39) |
S211T |
probably damaging |
Het |
Slc34a2 |
A |
G |
5: 53,221,217 (GRCm39) |
D221G |
possibly damaging |
Het |
Tmprss11g |
A |
T |
5: 86,637,166 (GRCm39) |
L323Q |
probably damaging |
Het |
Tpcn1 |
T |
C |
5: 120,687,988 (GRCm39) |
|
probably benign |
Het |
Trim65 |
G |
A |
11: 116,018,050 (GRCm39) |
T311I |
probably benign |
Het |
Tub |
T |
C |
7: 108,625,962 (GRCm39) |
F284L |
possibly damaging |
Het |
Ube2j1 |
G |
A |
4: 33,036,711 (GRCm39) |
V12I |
probably benign |
Het |
Vmn2r101 |
A |
T |
17: 19,809,161 (GRCm39) |
N97Y |
probably benign |
Het |
Vmn2r49 |
C |
A |
7: 9,722,835 (GRCm39) |
W146C |
probably damaging |
Het |
Zfp628 |
T |
C |
7: 4,922,153 (GRCm39) |
L125P |
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 |
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 |
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'- TTCGCCTGGGAAATGCCAAG -3'
(R):5'- CGGAAGGGAAGTTTTCGAGTTAC -3'
Sequencing Primer
(F):5'- GCCTTCAAAGCCGATCTAAGTG -3'
(R):5'- CAATGGAGATCTTGAGCTTTGATCC -3'
|
Posted On |
2022-01-20 |