Incidental Mutation 'R9312:Il31ra'
| ID |
705675 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il31ra
|
| Ensembl Gene |
ENSMUSG00000050377 |
| Gene Name |
interleukin 31 receptor A |
| Synonyms |
GLM-R, GPL |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9312 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
112649439-112717266 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 112686023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 89
(V89I)
|
| 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: V89I
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000058045
Gene: ENSMUSG00000050377
AA Change: V89I
| 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: V116I
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224510
AA Change: V8I
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224576
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225397
AA Change: V89I
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam8 |
A |
G |
7: 139,565,791 (GRCm39) |
L607P |
probably damaging |
Het |
| Adamts16 |
T |
A |
13: 70,949,045 (GRCm39) |
R205S |
probably damaging |
Het |
| Adgra3 |
T |
C |
5: 50,117,900 (GRCm39) |
Y1216C |
probably damaging |
Het |
| Arl3 |
A |
G |
19: 46,531,964 (GRCm39) |
V91A |
probably damaging |
Het |
| Bckdhb |
A |
T |
9: 83,870,833 (GRCm39) |
K114N |
probably benign |
Het |
| Cabin1 |
A |
T |
10: 75,561,569 (GRCm39) |
D150E |
probably benign |
Het |
| Cadps |
G |
A |
14: 12,616,095 (GRCm38) |
R312C |
probably damaging |
Het |
| Cep120 |
A |
G |
18: 53,860,713 (GRCm39) |
I239T |
probably benign |
Het |
| Clec4g |
T |
A |
8: 3,768,371 (GRCm39) |
E120V |
probably null |
Het |
| Col18a1 |
T |
C |
10: 76,894,606 (GRCm39) |
E1022G |
probably damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,167,709 (GRCm39) |
I231T |
possibly damaging |
Het |
| Dcaf17 |
T |
C |
2: 70,908,458 (GRCm39) |
Y228H |
probably benign |
Het |
| Ddx41 |
T |
A |
13: 55,683,842 (GRCm39) |
Q52L |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,050,413 (GRCm39) |
Y3212C |
probably damaging |
Het |
| Etv4 |
A |
G |
11: 101,664,923 (GRCm39) |
Y177H |
probably benign |
Het |
| Fer1l5 |
A |
G |
1: 36,460,248 (GRCm39) |
E1910G |
probably damaging |
Het |
| Fgf11 |
G |
T |
11: 69,689,412 (GRCm39) |
H195Q |
probably damaging |
Het |
| Gatb |
A |
G |
3: 85,561,070 (GRCm39) |
K529E |
probably damaging |
Het |
| Gfus |
T |
C |
15: 75,797,169 (GRCm39) |
Y292C |
possibly damaging |
Het |
| Gsdmc |
C |
A |
15: 63,649,806 (GRCm39) |
A362S |
probably damaging |
Het |
| Gucy1b1 |
A |
T |
3: 81,942,123 (GRCm39) |
N545K |
probably damaging |
Het |
| Heatr1 |
A |
G |
13: 12,446,565 (GRCm39) |
H1638R |
probably benign |
Het |
| Hecw1 |
T |
G |
13: 14,546,567 (GRCm39) |
I145L |
probably damaging |
Het |
| Hmmr |
A |
G |
11: 40,614,316 (GRCm39) |
V124A |
possibly damaging |
Het |
| Kcnmb3 |
A |
T |
3: 32,536,575 (GRCm39) |
M51K |
probably benign |
Het |
| Lamb1 |
C |
T |
12: 31,368,352 (GRCm39) |
R1209C |
probably damaging |
Het |
| Lcn6 |
G |
T |
2: 25,570,074 (GRCm39) |
G80V |
probably benign |
Het |
| Lgsn |
A |
G |
1: 31,243,280 (GRCm39) |
E454G |
probably benign |
Het |
| Loxhd1 |
G |
A |
18: 77,498,285 (GRCm39) |
M1624I |
probably benign |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mapk8ip3 |
T |
C |
17: 25,146,925 (GRCm39) |
|
probably null |
Het |
| Mlip |
A |
G |
9: 77,147,060 (GRCm39) |
Y26H |
probably damaging |
Het |
| Nipsnap1 |
A |
C |
11: 4,839,902 (GRCm39) |
I208L |
possibly damaging |
Het |
| Nusap1 |
CGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGA |
2: 119,458,119 (GRCm39) |
|
probably benign |
Het |
| Or5m11 |
T |
A |
2: 85,781,509 (GRCm39) |
V34D |
possibly damaging |
Het |
| Pigr |
C |
T |
1: 130,762,185 (GRCm39) |
T7M |
probably benign |
Het |
| Pigu |
T |
C |
2: 155,199,315 (GRCm39) |
M1V |
probably null |
Het |
| Pkd1 |
T |
A |
17: 24,797,364 (GRCm39) |
I2568N |
probably damaging |
Het |
| Psmd4 |
A |
T |
3: 94,940,729 (GRCm39) |
S345T |
probably benign |
Het |
| Rab3gap2 |
A |
T |
1: 185,015,684 (GRCm39) |
M1321L |
probably benign |
Het |
| Rnf157 |
A |
G |
11: 116,240,158 (GRCm39) |
|
probably null |
Het |
| Sart3 |
C |
T |
5: 113,900,935 (GRCm39) |
E168K |
possibly damaging |
Het |
| Scnn1g |
A |
G |
7: 121,339,818 (GRCm39) |
K206E |
probably benign |
Het |
| Smg6 |
A |
C |
11: 74,820,877 (GRCm39) |
S383R |
probably benign |
Het |
| Smurf1 |
G |
T |
5: 144,830,893 (GRCm39) |
P294H |
probably damaging |
Het |
| Sspo |
A |
T |
6: 48,445,396 (GRCm39) |
H2279L |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,223,978 (GRCm39) |
D221V |
probably benign |
Het |
| Tgm6 |
T |
A |
2: 129,977,701 (GRCm39) |
H13Q |
probably benign |
Het |
| Tnfaip8l2 |
T |
C |
3: 95,047,767 (GRCm39) |
D32G |
probably damaging |
Het |
| Tppp |
A |
G |
13: 74,179,377 (GRCm39) |
D167G |
probably damaging |
Het |
| Trak1 |
A |
G |
9: 121,280,757 (GRCm39) |
E382G |
probably benign |
Het |
| Trdv2-1 |
C |
T |
14: 54,183,570 (GRCm39) |
T14I |
probably benign |
Het |
| Ubr3 |
A |
T |
2: 69,784,677 (GRCm39) |
D799V |
probably damaging |
Het |
| Usp28 |
T |
A |
9: 48,926,439 (GRCm39) |
Y317* |
probably null |
Het |
| Vmn1r225 |
C |
T |
17: 20,722,960 (GRCm39) |
L134F |
probably benign |
Het |
| Vmn2r86 |
A |
G |
10: 130,288,406 (GRCm39) |
I365T |
probably benign |
Het |
| Wfikkn2 |
A |
G |
11: 94,129,497 (GRCm39) |
S215P |
probably damaging |
Het |
| Xrcc2 |
A |
G |
5: 25,897,124 (GRCm39) |
V275A |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,508,569 (GRCm39) |
I592F |
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 |
|
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 |
|
R9381:Il31ra
|
UTSW |
13 |
112,668,253 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAATTATTCCCTCACACTCTGAG -3'
(R):5'- CTTGGCAGATGCACCAAATC -3'
Sequencing Primer
(F):5'- ACACTCTGAGTCTGCATTTGAAC -3'
(R):5'- TTTCCTAAGAAATCCAGAGCAGAAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation