Incidental Mutation 'R7187:Il31ra'
ID |
559380 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il31ra
|
Ensembl Gene |
ENSMUSG00000050377 |
Gene Name |
interleukin 31 receptor A |
Synonyms |
GLM-R, GPL |
MMRRC Submission |
045377-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7187 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
112649439-112717266 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 112682845 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 168
(C168F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058045
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051756]
[ENSMUST00000223752]
[ENSMUST00000223819]
[ENSMUST00000224510]
[ENSMUST00000224576]
[ENSMUST00000225397]
|
AlphaFold |
Q8K5B1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051756
AA Change: C168F
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000058045 Gene: ENSMUSG00000050377 AA Change: C168F
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 benign
Transcript: ENSMUST00000223819
AA Change: C195F
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224510
AA Change: C87F
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224576
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225397
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (59/59) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
A |
G |
2: 25,327,733 (GRCm39) |
Y716C |
probably damaging |
Het |
Abcc1 |
A |
G |
16: 14,284,861 (GRCm39) |
I1237V |
probably benign |
Het |
Adam34 |
C |
T |
8: 44,105,565 (GRCm39) |
A27T |
probably benign |
Het |
Aff3 |
T |
C |
1: 38,257,478 (GRCm39) |
S415G |
probably damaging |
Het |
Ak7 |
T |
C |
12: 105,711,532 (GRCm39) |
Y390H |
probably benign |
Het |
Arap2 |
A |
C |
5: 62,826,396 (GRCm39) |
M1056R |
probably damaging |
Het |
Brf1 |
T |
C |
12: 112,923,945 (GRCm39) |
Y676C |
unknown |
Het |
Cachd1 |
T |
A |
4: 100,833,552 (GRCm39) |
H776Q |
possibly damaging |
Het |
Cacng7 |
T |
C |
7: 3,385,183 (GRCm39) |
V28A |
probably damaging |
Het |
Camk2g |
A |
T |
14: 20,792,780 (GRCm39) |
D359E |
probably benign |
Het |
Cd209b |
T |
C |
8: 3,976,638 (GRCm39) |
D16G |
probably benign |
Het |
Ceacam5 |
A |
G |
7: 17,493,410 (GRCm39) |
E811G |
possibly damaging |
Het |
Cecr2 |
T |
A |
6: 120,733,647 (GRCm39) |
S545T |
probably benign |
Het |
Cep55 |
T |
C |
19: 38,048,806 (GRCm39) |
|
probably null |
Het |
Ctif |
C |
A |
18: 75,770,290 (GRCm39) |
V32L |
probably damaging |
Het |
Cwc27 |
G |
A |
13: 104,797,900 (GRCm39) |
A353V |
probably benign |
Het |
Dclk3 |
T |
A |
9: 111,314,064 (GRCm39) |
S713R |
probably damaging |
Het |
Dlec1 |
C |
T |
9: 118,941,214 (GRCm39) |
H255Y |
probably benign |
Het |
Dlgap1 |
A |
G |
17: 70,823,093 (GRCm39) |
H26R |
possibly damaging |
Het |
Dydc1 |
C |
T |
14: 40,800,051 (GRCm39) |
T19I |
possibly damaging |
Het |
Efcab12 |
G |
A |
6: 115,800,474 (GRCm39) |
P183L |
not run |
Het |
Eif1ad19 |
T |
C |
12: 87,740,708 (GRCm39) |
|
probably benign |
Het |
Eri3 |
C |
A |
4: 117,446,343 (GRCm39) |
Q219K |
probably benign |
Het |
Fam135a |
A |
G |
1: 24,083,295 (GRCm39) |
L310P |
probably damaging |
Het |
Fgd5 |
T |
A |
6: 91,965,272 (GRCm39) |
S502T |
possibly damaging |
Het |
Fgf8 |
A |
G |
19: 45,730,106 (GRCm39) |
S57P |
probably benign |
Het |
Gls |
T |
C |
1: 52,259,139 (GRCm39) |
E154G |
probably damaging |
Het |
Gm28042 |
T |
C |
2: 119,870,176 (GRCm39) |
L705P |
probably damaging |
Het |
Golgb1 |
C |
A |
16: 36,736,512 (GRCm39) |
Q1961K |
probably benign |
Het |
Herc3 |
C |
A |
6: 58,833,616 (GRCm39) |
Q168K |
probably benign |
Het |
Ino80 |
A |
T |
2: 119,257,072 (GRCm39) |
D860E |
probably benign |
Het |
Iqcm |
T |
G |
8: 76,480,044 (GRCm39) |
L334R |
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,641,204 (GRCm39) |
D1587G |
possibly damaging |
Het |
Map4 |
T |
A |
9: 109,882,201 (GRCm39) |
V355E |
probably benign |
Het |
Mapk13 |
T |
A |
17: 28,995,361 (GRCm39) |
I194N |
probably damaging |
Het |
Mtus2 |
A |
G |
5: 148,013,515 (GRCm39) |
T103A |
probably benign |
Het |
Naglu |
G |
T |
11: 100,961,158 (GRCm39) |
G70W |
probably benign |
Het |
Nlrp4f |
A |
T |
13: 65,343,201 (GRCm39) |
M126K |
possibly damaging |
Het |
Or4c120 |
T |
C |
2: 89,001,714 (GRCm39) |
|
probably benign |
Het |
Or5p61 |
A |
T |
7: 107,758,585 (GRCm39) |
V165E |
probably benign |
Het |
Pdia4 |
T |
C |
6: 47,790,193 (GRCm39) |
T16A |
unknown |
Het |
Pou6f2 |
G |
A |
13: 18,414,298 (GRCm39) |
A159V |
|
Het |
Ripor1 |
A |
G |
8: 106,344,506 (GRCm39) |
T547A |
probably benign |
Het |
Rundc3b |
A |
G |
5: 8,542,506 (GRCm39) |
S389P |
probably damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Spats2 |
T |
C |
15: 99,110,054 (GRCm39) |
S484P |
probably benign |
Het |
Supv3l1 |
G |
A |
10: 62,271,328 (GRCm39) |
T403I |
probably damaging |
Het |
Tacstd2 |
G |
A |
6: 67,512,180 (GRCm39) |
R171W |
probably damaging |
Het |
Taok2 |
A |
T |
7: 126,471,552 (GRCm39) |
F542L |
probably damaging |
Het |
Tbc1d31 |
T |
A |
15: 57,801,459 (GRCm39) |
N331K |
possibly damaging |
Het |
Tff2 |
A |
T |
17: 31,361,200 (GRCm39) |
C118S |
probably damaging |
Het |
Tmprss7 |
G |
A |
16: 45,498,317 (GRCm39) |
T354I |
possibly damaging |
Het |
Tmtc3 |
A |
T |
10: 100,313,774 (GRCm39) |
F33I |
probably damaging |
Het |
Tpbpa |
G |
A |
13: 61,088,399 (GRCm39) |
|
probably benign |
Het |
Ube3a |
G |
T |
7: 58,925,653 (GRCm39) |
V165F |
probably benign |
Het |
Vmn2r4 |
T |
G |
3: 64,322,681 (GRCm39) |
T13P |
probably benign |
Het |
Wnt8b |
A |
G |
19: 44,500,121 (GRCm39) |
D236G |
probably benign |
Het |
Ythdf3 |
C |
A |
3: 16,258,451 (GRCm39) |
D210E |
probably benign |
Het |
Zfp110 |
T |
A |
7: 12,583,753 (GRCm39) |
Y800* |
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 |
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 |
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'- TAAGGCTCAACCCAGGAAGC -3'
(R):5'- AGTGGACACTAAGTTTCTGTCAC -3'
Sequencing Primer
(F):5'- CCCTACACCAGAATAAGCAGATGAGG -3'
(R):5'- AAGTTTCTGTCACACAAACTTCC -3'
|
Posted On |
2019-06-26 |