Incidental Mutation 'R6414:Il31ra'
ID |
514882 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il31ra
|
Ensembl Gene |
ENSMUSG00000050377 |
Gene Name |
interleukin 31 receptor A |
Synonyms |
GLM-R, GPL |
MMRRC Submission |
044556-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6414 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
112649439-112717266 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 112660441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 635
(V635A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153382
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051756]
[ENSMUST00000223752]
[ENSMUST00000223819]
[ENSMUST00000224510]
[ENSMUST00000224576]
|
AlphaFold |
Q8K5B1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051756
AA Change: V716A
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000058045 Gene: ENSMUSG00000050377 AA Change: V716A
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
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224510
AA Change: V635A
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224576
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
Validation Efficiency |
98% (57/58) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm5 |
T |
A |
4: 144,503,985 (GRCm39) |
I389L |
possibly damaging |
Het |
Acap1 |
A |
G |
11: 69,775,162 (GRCm39) |
V367A |
probably benign |
Het |
Alpk1 |
T |
C |
3: 127,473,858 (GRCm39) |
D715G |
probably benign |
Het |
Atg101 |
T |
A |
15: 101,188,341 (GRCm39) |
C149S |
probably benign |
Het |
Atp2c1 |
A |
T |
9: 105,343,855 (GRCm39) |
I84N |
probably damaging |
Het |
Ceacam20 |
C |
A |
7: 19,710,056 (GRCm39) |
A360E |
probably damaging |
Het |
Chd3 |
A |
T |
11: 69,243,371 (GRCm39) |
|
probably null |
Het |
Clcc1 |
G |
A |
3: 108,584,167 (GRCm39) |
C517Y |
possibly damaging |
Het |
Col6a5 |
T |
C |
9: 105,769,465 (GRCm39) |
|
probably null |
Het |
Ctnna3 |
T |
C |
10: 64,096,644 (GRCm39) |
V394A |
probably benign |
Het |
Ctsll3 |
A |
G |
13: 60,948,113 (GRCm39) |
F188S |
probably damaging |
Het |
Cyth4 |
T |
C |
15: 78,492,346 (GRCm39) |
V125A |
probably damaging |
Het |
Ddx43 |
G |
A |
9: 78,308,218 (GRCm39) |
V131I |
probably benign |
Het |
Elp4 |
A |
G |
2: 105,734,788 (GRCm39) |
S16P |
possibly damaging |
Het |
Espl1 |
T |
A |
15: 102,223,995 (GRCm39) |
V1182E |
probably damaging |
Het |
Fhod3 |
T |
C |
18: 25,223,935 (GRCm39) |
S1094P |
possibly damaging |
Het |
Fmo6 |
A |
T |
1: 162,748,014 (GRCm39) |
V350D |
probably damaging |
Het |
Frem1 |
A |
G |
4: 82,858,773 (GRCm39) |
F1545S |
probably damaging |
Het |
Gata3 |
T |
A |
2: 9,863,245 (GRCm39) |
H423L |
possibly damaging |
Het |
Golt1a |
A |
T |
1: 133,248,032 (GRCm39) |
M87L |
probably damaging |
Het |
Gpr171 |
A |
T |
3: 59,005,544 (GRCm39) |
V77E |
probably damaging |
Het |
Hectd2 |
A |
G |
19: 36,596,186 (GRCm39) |
D757G |
probably benign |
Het |
Hmmr |
A |
G |
11: 40,606,694 (GRCm39) |
|
probably null |
Het |
Lama1 |
T |
C |
17: 68,053,905 (GRCm39) |
|
probably null |
Het |
Ltbp4 |
G |
A |
7: 27,010,140 (GRCm39) |
P1140L |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,386,988 (GRCm39) |
L1210P |
possibly damaging |
Het |
Meox2 |
A |
T |
12: 37,158,830 (GRCm39) |
M1L |
probably benign |
Het |
Mex3d |
A |
G |
10: 80,217,205 (GRCm39) |
S671P |
unknown |
Het |
Mrgprb2 |
C |
T |
7: 48,202,129 (GRCm39) |
V199I |
probably benign |
Het |
Mroh9 |
A |
T |
1: 162,902,271 (GRCm39) |
V114E |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,412,834 (GRCm39) |
K1927E |
unknown |
Het |
Or4f52 |
A |
C |
2: 111,061,497 (GRCm39) |
|
probably null |
Het |
Or6c35 |
T |
A |
10: 129,169,578 (GRCm39) |
I276K |
probably benign |
Het |
Otogl |
C |
T |
10: 107,617,911 (GRCm39) |
C1734Y |
probably damaging |
Het |
Parp4 |
T |
A |
14: 56,864,838 (GRCm39) |
|
probably null |
Het |
Pcdh15 |
T |
A |
10: 74,021,258 (GRCm39) |
N162K |
probably damaging |
Het |
Pcdhb10 |
A |
C |
18: 37,546,898 (GRCm39) |
H658P |
possibly damaging |
Het |
Pgm2l1 |
G |
T |
7: 99,904,747 (GRCm39) |
A160S |
possibly damaging |
Het |
Prkag2 |
T |
A |
5: 25,305,178 (GRCm39) |
|
probably benign |
Het |
Rap1gap2 |
A |
G |
11: 74,296,616 (GRCm39) |
L457P |
probably damaging |
Het |
Rasef |
C |
T |
4: 73,658,818 (GRCm39) |
V463M |
probably benign |
Het |
Rb1 |
T |
C |
14: 73,520,414 (GRCm39) |
S42G |
unknown |
Het |
Reep3 |
C |
A |
10: 66,875,356 (GRCm39) |
V36F |
probably damaging |
Het |
Rhcg |
A |
G |
7: 79,248,716 (GRCm39) |
|
probably null |
Het |
Sbno1 |
T |
C |
5: 124,533,994 (GRCm39) |
S661G |
probably benign |
Het |
Slc25a3 |
T |
G |
10: 90,958,190 (GRCm39) |
Q50P |
possibly damaging |
Het |
Slc2a13 |
T |
A |
15: 91,228,008 (GRCm39) |
I395F |
probably benign |
Het |
Slc6a5 |
C |
T |
7: 49,559,991 (GRCm39) |
|
probably benign |
Het |
Snta1 |
G |
C |
2: 154,219,987 (GRCm39) |
T391S |
possibly damaging |
Het |
Spata7 |
T |
C |
12: 98,629,479 (GRCm39) |
|
probably null |
Het |
Stx17 |
A |
G |
4: 48,158,809 (GRCm39) |
|
probably null |
Het |
Terf2 |
A |
T |
8: 107,803,486 (GRCm39) |
S365T |
probably benign |
Het |
Tmem231 |
G |
A |
8: 112,653,524 (GRCm39) |
|
probably benign |
Het |
Trim8 |
A |
T |
19: 46,491,346 (GRCm39) |
H155L |
probably benign |
Het |
Wipi2 |
T |
A |
5: 142,641,693 (GRCm39) |
V83D |
probably damaging |
Het |
Zbtb47 |
T |
G |
9: 121,592,725 (GRCm39) |
D348E |
probably benign |
Het |
Zfp316 |
C |
A |
5: 143,240,639 (GRCm39) |
R460L |
possibly damaging |
Het |
Zfp799 |
C |
T |
17: 33,039,259 (GRCm39) |
V336M |
probably damaging |
Het |
Zfp947 |
A |
T |
17: 22,365,395 (GRCm39) |
I93N |
probably damaging |
Het |
Zranb3 |
A |
G |
1: 127,968,694 (GRCm39) |
Y74H |
probably benign |
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 |
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'- AGGACTCCATTCTTCCTGGC -3'
(R):5'- GAGCCCTCCGTTTTAACTGAG -3'
Sequencing Primer
(F):5'- GGCCTAAGTCCACATCTGTG -3'
(R):5'- AACTGAGGTTGCTTCTGAAGACTCC -3'
|
Posted On |
2018-05-04 |