Incidental Mutation 'R8890:Il31ra'
| ID |
677646 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il31ra
|
| Ensembl Gene |
ENSMUSG00000050377 |
| Gene Name |
interleukin 31 receptor A |
| Synonyms |
GLM-R, GPL |
| MMRRC Submission |
068694-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8890 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
112649439-112717266 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112660861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 576
(D576G)
|
| 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: D576G
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000058045
Gene: ENSMUSG00000050377
AA Change: D576G
| 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 damaging
Transcript: ENSMUST00000223819
AA Change: D603G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224510
AA Change: D495G
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224576
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| 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 |
|---|
| 4930567H17Rik |
G |
A |
X: 69,437,994 (GRCm39) |
R100W |
possibly damaging |
Het |
| Acrv1 |
A |
T |
9: 36,604,608 (GRCm39) |
M1L |
probably benign |
Het |
| Adam23 |
G |
A |
1: 63,624,524 (GRCm39) |
G784D |
possibly damaging |
Het |
| Astl |
A |
T |
2: 127,198,479 (GRCm39) |
M365L |
probably benign |
Het |
| C1ql3 |
T |
A |
2: 13,015,184 (GRCm39) |
T159S |
|
Het |
| Ccser2 |
T |
G |
14: 36,601,352 (GRCm39) |
D344A |
probably damaging |
Het |
| Cox11 |
A |
C |
11: 90,534,599 (GRCm39) |
I214L |
probably damaging |
Het |
| Cramp1 |
C |
T |
17: 25,202,114 (GRCm39) |
G456D |
probably damaging |
Het |
| Ctsq |
T |
A |
13: 61,185,502 (GRCm39) |
Y213F |
probably damaging |
Het |
| Cyp2j5 |
T |
A |
4: 96,522,555 (GRCm39) |
I340F |
probably damaging |
Het |
| Efcab6 |
A |
G |
15: 83,829,349 (GRCm39) |
F664L |
probably damaging |
Het |
| Eif3j2 |
A |
G |
18: 43,610,276 (GRCm39) |
L179P |
probably benign |
Het |
| Fhad1 |
A |
T |
4: 141,656,902 (GRCm39) |
M84K |
probably benign |
Het |
| Gabbr1 |
T |
C |
17: 37,358,436 (GRCm39) |
V58A |
probably benign |
Het |
| Gabra1 |
T |
A |
11: 42,024,553 (GRCm39) |
Y374F |
probably benign |
Het |
| Glt28d2 |
A |
T |
3: 85,779,359 (GRCm39) |
V38D |
possibly damaging |
Het |
| Grid2 |
A |
T |
6: 63,233,923 (GRCm39) |
H28L |
probably benign |
Het |
| Hat1 |
G |
A |
2: 71,269,137 (GRCm39) |
R355K |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,953,657 (GRCm39) |
Y658H |
possibly damaging |
Het |
| Hsh2d |
T |
C |
8: 72,951,690 (GRCm39) |
F108S |
probably damaging |
Het |
| Il17rc |
G |
T |
6: 113,456,031 (GRCm39) |
C292F |
probably damaging |
Het |
| Iqsec3 |
T |
C |
6: 121,389,515 (GRCm39) |
D652G |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,366,624 (GRCm39) |
S420R |
probably damaging |
Het |
| Klhdc7b |
A |
G |
15: 89,272,888 (GRCm39) |
T599A |
probably benign |
Het |
| Lrrc8c |
A |
T |
5: 105,754,954 (GRCm39) |
E243V |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,006,882 (GRCm39) |
S714P |
probably damaging |
Het |
| Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
| Mipep |
G |
T |
14: 61,109,506 (GRCm39) |
A628S |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mterf3 |
C |
T |
13: 67,064,676 (GRCm39) |
|
probably null |
Het |
| Myh15 |
C |
A |
16: 48,959,130 (GRCm39) |
L1001I |
probably damaging |
Het |
| Myom3 |
G |
A |
4: 135,541,565 (GRCm39) |
M1385I |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,926,784 (GRCm39) |
|
probably benign |
Het |
| Nphs1 |
C |
T |
7: 30,162,080 (GRCm39) |
R270W |
probably damaging |
Het |
| Nwd1 |
T |
A |
8: 73,438,484 (GRCm39) |
S1552T |
probably benign |
Het |
| Or10ag60 |
A |
T |
2: 87,438,412 (GRCm39) |
I227F |
probably damaging |
Het |
| Or10j5 |
G |
A |
1: 172,785,045 (GRCm39) |
V228M |
probably benign |
Het |
| Or52ae9 |
G |
T |
7: 103,389,675 (GRCm39) |
F257L |
probably damaging |
Het |
| Or52r1 |
A |
T |
7: 102,536,699 (GRCm39) |
Y220* |
probably null |
Het |
| Pcdh7 |
A |
T |
5: 57,876,717 (GRCm39) |
I91F |
probably damaging |
Het |
| Pheta2 |
G |
T |
15: 82,227,618 (GRCm39) |
V46F |
probably damaging |
Het |
| Piezo1 |
T |
C |
8: 123,216,330 (GRCm39) |
R1394G |
|
Het |
| Pramel28 |
G |
T |
4: 143,691,494 (GRCm39) |
Q410K |
probably benign |
Het |
| Psmd1 |
G |
A |
1: 86,012,914 (GRCm39) |
R361Q |
probably damaging |
Het |
| Ralb |
G |
A |
1: 119,411,246 (GRCm39) |
T31M |
probably damaging |
Het |
| Rassf4 |
T |
A |
6: 116,617,305 (GRCm39) |
K233N |
probably damaging |
Het |
| Rif1 |
T |
C |
2: 51,988,875 (GRCm39) |
F756S |
probably damaging |
Het |
| Rpgrip1 |
G |
A |
14: 52,382,501 (GRCm39) |
D556N |
possibly damaging |
Het |
| Scai |
T |
C |
2: 39,040,400 (GRCm39) |
|
probably benign |
Het |
| Scfd1 |
A |
G |
12: 51,474,678 (GRCm39) |
T478A |
probably benign |
Het |
| Spag17 |
T |
A |
3: 99,911,994 (GRCm39) |
I288N |
possibly damaging |
Het |
| Sult1e1 |
C |
T |
5: 87,727,719 (GRCm39) |
V188I |
probably benign |
Het |
| Tmco1 |
A |
G |
1: 167,143,814 (GRCm39) |
R82G |
|
Het |
| Tmem109 |
T |
C |
19: 10,849,235 (GRCm39) |
S207G |
probably benign |
Het |
| Vmn2r115 |
A |
G |
17: 23,578,497 (GRCm39) |
T657A |
probably damaging |
Het |
| Whamm |
A |
G |
7: 81,243,640 (GRCm39) |
T621A |
probably benign |
Het |
| Zbtb40 |
A |
G |
4: 136,725,897 (GRCm39) |
L554P |
probably damaging |
Het |
| Zfp131 |
A |
T |
13: 120,244,338 (GRCm39) |
M114K |
probably damaging |
Het |
| Zfp532 |
C |
T |
18: 65,757,404 (GRCm39) |
P446S |
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 |
|
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'- GGAGGGCTCTTTAAAACTTTTCCC -3'
(R):5'- CACCTGAGGAACACTGTGTG -3'
Sequencing Primer
(F):5'- CTTTAAAACTTTTCCCTGGGGG -3'
(R):5'- CTGAGGAACACTGTGTGCACTAG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation