Incidental Mutation 'R5193:Il31ra'
| ID |
399884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il31ra
|
| Ensembl Gene |
ENSMUSG00000050377 |
| Gene Name |
interleukin 31 receptor A |
| Synonyms |
GLM-R, GPL |
| MMRRC Submission |
042769-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5193 (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 112660864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 602
(E602G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051756]
[ENSMUST00000223752]
[ENSMUST00000223819]
[ENSMUST00000224510]
[ENSMUST00000224576]
|
| AlphaFold |
Q8K5B1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051756
AA Change: E575G
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000058045
Gene: ENSMUSG00000050377
AA Change: E575G
| 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 |
probably benign
Transcript: ENSMUST00000223819
AA Change: E602G
PolyPhen 2
Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224510
AA Change: E494G
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224576
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
A |
T |
2: 150,677,226 (GRCm39) |
*56R |
probably null |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Arfgap3 |
C |
T |
15: 83,216,898 (GRCm39) |
A156T |
probably benign |
Het |
| Bpifc |
T |
C |
10: 85,836,497 (GRCm39) |
T3A |
probably benign |
Het |
| Ccdc7a |
T |
A |
8: 129,715,278 (GRCm39) |
I269L |
probably benign |
Het |
| Cd151 |
A |
G |
7: 141,050,606 (GRCm39) |
Y253C |
probably damaging |
Het |
| Cenpl |
C |
A |
1: 160,911,037 (GRCm39) |
S328* |
probably null |
Het |
| Cfl1 |
T |
A |
19: 5,542,580 (GRCm39) |
V20D |
probably damaging |
Het |
| Clec14a |
A |
G |
12: 58,315,400 (GRCm39) |
L74P |
probably damaging |
Het |
| Cnn1 |
A |
T |
9: 22,019,132 (GRCm39) |
D196V |
probably damaging |
Het |
| Cst13 |
C |
A |
2: 148,670,143 (GRCm39) |
C104* |
probably null |
Het |
| Det1 |
A |
G |
7: 78,493,302 (GRCm39) |
V234A |
probably damaging |
Het |
| Efnb2 |
A |
G |
8: 8,673,162 (GRCm39) |
M165T |
probably damaging |
Het |
| Fbxo10 |
T |
A |
4: 45,051,573 (GRCm39) |
K339* |
probably null |
Het |
| Fnta |
A |
T |
8: 26,501,246 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,813,338 (GRCm39) |
Y3219F |
possibly damaging |
Het |
| Gprin2 |
C |
T |
14: 33,916,832 (GRCm39) |
V313M |
possibly damaging |
Het |
| Hars1 |
A |
G |
18: 36,900,358 (GRCm39) |
L448S |
possibly damaging |
Het |
| Hipk3 |
A |
G |
2: 104,260,345 (GRCm39) |
I1166T |
possibly damaging |
Het |
| Kctd15 |
A |
G |
7: 34,344,282 (GRCm39) |
L123P |
probably damaging |
Het |
| Kifbp |
T |
C |
10: 62,395,175 (GRCm39) |
D489G |
possibly damaging |
Het |
| Krt1 |
C |
A |
15: 101,754,357 (GRCm39) |
S631I |
unknown |
Het |
| Lancl1 |
T |
A |
1: 67,060,173 (GRCm39) |
Y84F |
probably benign |
Het |
| Lcor |
A |
G |
19: 41,570,969 (GRCm39) |
D54G |
probably damaging |
Het |
| Mafa |
G |
T |
15: 75,619,666 (GRCm39) |
P36T |
unknown |
Het |
| Magi2 |
G |
A |
5: 20,563,970 (GRCm39) |
|
probably null |
Het |
| Mcm9 |
T |
A |
10: 53,492,134 (GRCm39) |
I396F |
probably damaging |
Het |
| Mrgprh |
T |
C |
17: 13,095,942 (GRCm39) |
F61L |
probably damaging |
Het |
| Or10g1b |
A |
G |
14: 52,628,069 (GRCm39) |
W54R |
probably benign |
Het |
| Or1e16 |
TAGCGGTCGTA |
T |
11: 73,286,479 (GRCm39) |
|
probably null |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or51a7 |
T |
A |
7: 102,615,143 (GRCm39) |
F279I |
possibly damaging |
Het |
| Or5w17 |
A |
T |
2: 87,583,448 (GRCm39) |
D296E |
possibly damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,542,174 (GRCm39) |
T806S |
possibly damaging |
Het |
| Pigc |
T |
C |
1: 161,798,465 (GRCm39) |
I149T |
possibly damaging |
Het |
| Pou5f2 |
C |
A |
13: 78,173,083 (GRCm39) |
N8K |
probably benign |
Het |
| Pou6f2 |
T |
C |
13: 18,300,129 (GRCm39) |
|
probably benign |
Het |
| Prl3d2 |
T |
A |
13: 27,306,312 (GRCm39) |
M13K |
possibly damaging |
Het |
| Pzp |
T |
C |
6: 128,479,297 (GRCm39) |
N619D |
probably benign |
Het |
| Rnps1 |
G |
A |
17: 24,637,517 (GRCm39) |
S53N |
probably benign |
Het |
| Scaf8 |
C |
G |
17: 3,240,440 (GRCm39) |
A604G |
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,438,721 (GRCm39) |
N1716S |
probably damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc34a1 |
A |
G |
13: 24,003,845 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
G |
12: 76,141,194 (GRCm39) |
D6102G |
probably damaging |
Het |
| Tbc1d16 |
A |
T |
11: 119,049,646 (GRCm39) |
D283E |
probably benign |
Het |
| Tet1 |
T |
C |
10: 62,674,026 (GRCm39) |
D1350G |
probably benign |
Het |
| Trpa1 |
A |
G |
1: 14,946,141 (GRCm39) |
Y997H |
possibly damaging |
Het |
| Tyro3 |
T |
C |
2: 119,640,998 (GRCm39) |
L494P |
probably damaging |
Het |
| Uba6 |
G |
T |
5: 86,272,281 (GRCm39) |
Q803K |
probably benign |
Het |
| Vgll2 |
T |
A |
10: 51,904,088 (GRCm39) |
L317Q |
possibly damaging |
Het |
| Wdr62 |
A |
T |
7: 29,964,592 (GRCm39) |
I384N |
probably damaging |
Het |
| Wdtc1 |
G |
A |
4: 133,021,678 (GRCm39) |
R619* |
probably null |
Het |
| Xkr6 |
A |
G |
14: 64,056,356 (GRCm39) |
D89G |
possibly 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 |
|
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'- CGGAGGGCTCTTTAAAACTTTTCC -3'
(R):5'- CACCTGAGGAACACTGTGTG -3'
Sequencing Primer
(F):5'- CTTTAAAACTTTTCCCTGGGGG -3'
(R):5'- CTGAGGAACACTGTGTGCACTAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation