Incidental Mutation 'R5825:Il18rap'
| ID |
450097 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il18rap
|
| Ensembl Gene |
ENSMUSG00000026068 |
| Gene Name |
interleukin 18 receptor accessory protein |
| Synonyms |
AcPL accessory protein-like) |
| MMRRC Submission |
044053-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5825 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
40554522-40590865 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40570726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 223
(T223A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027237]
|
| AlphaFold |
Q9Z2B1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027237
AA Change: T223A
PolyPhen 2
Score 0.379 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000027237
Gene: ENSMUSG00000026068
AA Change: T223A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Blast:IG_like
|
31 |
144 |
2e-36 |
BLAST |
|
IG
|
159 |
240 |
2.94e0 |
SMART |
|
IG
|
257 |
354 |
1.35e0 |
SMART |
|
transmembrane domain
|
363 |
385 |
N/A |
INTRINSIC |
|
TIR
|
406 |
561 |
3.68e-35 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159724
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163057
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.1%
- 10x: 95.3%
- 20x: 83.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Interleukin-18 (or interferon-gamma inducing factor) is a proinflammatory cytokine that induces cell-mediated immunity following microbial infection. This gene encodes a member of the interleukin-1 receptor family. The encoded protein is an accessory subunit of the receptor for interleukin-18 and mediates signaling through this cytokine. Mice lacking this gene exhibit a defective cell-mediated immune response. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous null mice exhibit defective IL-18-mediated immune responses such as the inability of splenocytes, T helper 1 cells and neutrophils to produce cytokines in response to IL-18. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
T |
15: 60,791,976 (GRCm39) |
Y217* |
probably null |
Het |
| Abca2 |
A |
T |
2: 25,326,748 (GRCm39) |
I567F |
probably benign |
Het |
| Acss2 |
T |
A |
2: 155,391,098 (GRCm39) |
|
probably null |
Het |
| Atxn7l2 |
C |
A |
3: 108,112,127 (GRCm39) |
A320S |
probably damaging |
Het |
| Bfsp1 |
C |
T |
2: 143,669,379 (GRCm39) |
G400D |
probably benign |
Het |
| Ces5a |
G |
T |
8: 94,252,295 (GRCm39) |
A199D |
probably damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,702,336 (GRCm39) |
|
probably null |
Het |
| Chd2 |
A |
T |
7: 73,134,350 (GRCm39) |
|
probably null |
Het |
| Crebbp |
A |
G |
16: 3,905,606 (GRCm39) |
V1705A |
probably damaging |
Het |
| Cyp2j8 |
T |
A |
4: 96,395,451 (GRCm39) |
Q58L |
probably benign |
Het |
| Dlec1 |
T |
A |
9: 118,972,036 (GRCm39) |
I1379N |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 66,017,427 (GRCm39) |
H593R |
probably benign |
Het |
| Ep300 |
T |
A |
15: 81,495,673 (GRCm39) |
C412S |
probably benign |
Het |
| Fam110a |
A |
G |
2: 151,811,961 (GRCm39) |
S270P |
probably damaging |
Het |
| Gcc2 |
A |
G |
10: 58,130,643 (GRCm39) |
T1412A |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,874,449 (GRCm39) |
E2015G |
probably benign |
Het |
| Hormad1 |
T |
C |
3: 95,469,870 (GRCm39) |
V39A |
probably damaging |
Het |
| Igf2 |
G |
T |
7: 142,207,592 (GRCm39) |
H168Q |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,045,647 (GRCm39) |
E2573G |
probably damaging |
Het |
| Jcad |
T |
A |
18: 4,674,896 (GRCm39) |
V886E |
probably benign |
Het |
| Klra1 |
T |
C |
6: 130,357,592 (GRCm39) |
R12G |
probably damaging |
Het |
| Lamb1 |
A |
G |
12: 31,368,613 (GRCm39) |
I1248V |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Mapk7 |
C |
T |
11: 61,381,207 (GRCm39) |
R465Q |
possibly damaging |
Het |
| Mogs |
T |
C |
6: 83,095,193 (GRCm39) |
V670A |
possibly damaging |
Het |
| Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
| Ninl |
A |
T |
2: 150,782,644 (GRCm39) |
I1182N |
probably damaging |
Het |
| Nup160 |
A |
G |
2: 90,510,114 (GRCm39) |
|
probably null |
Het |
| Nynrin |
A |
G |
14: 56,101,683 (GRCm39) |
R451G |
probably benign |
Het |
| Or12e7 |
A |
G |
2: 87,287,794 (GRCm39) |
D95G |
probably benign |
Het |
| Or5h22 |
T |
C |
16: 58,895,024 (GRCm39) |
I140V |
probably benign |
Het |
| Osbp |
A |
G |
19: 11,948,085 (GRCm39) |
T131A |
probably damaging |
Het |
| Pcdhga12 |
A |
C |
18: 37,901,556 (GRCm39) |
D796A |
possibly damaging |
Het |
| Pcdhgb8 |
G |
A |
18: 37,895,289 (GRCm39) |
V120I |
probably benign |
Het |
| Pdgfb |
A |
T |
15: 79,881,869 (GRCm39) |
V213E |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,583,460 (GRCm39) |
M1013V |
probably benign |
Het |
| Pnma8a |
A |
G |
7: 16,695,020 (GRCm39) |
S292G |
probably benign |
Het |
| Prrt4 |
A |
G |
6: 29,177,182 (GRCm39) |
S196P |
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,661,136 (GRCm39) |
M463V |
possibly damaging |
Het |
| Tmprss11g |
A |
T |
5: 86,646,392 (GRCm39) |
S58R |
probably damaging |
Het |
| Traf3 |
C |
A |
12: 111,221,795 (GRCm39) |
Q319K |
probably benign |
Het |
| Trappc8 |
C |
T |
18: 21,006,977 (GRCm39) |
V194M |
probably damaging |
Het |
| Tyw1 |
A |
G |
5: 130,296,929 (GRCm39) |
K182R |
probably damaging |
Het |
| Usp48 |
A |
G |
4: 137,350,689 (GRCm39) |
T585A |
probably benign |
Het |
| Xkr6 |
G |
T |
14: 64,056,481 (GRCm39) |
V387L |
probably benign |
Het |
| Yod1 |
T |
C |
1: 130,646,743 (GRCm39) |
W207R |
probably damaging |
Het |
| Zdhhc8 |
T |
C |
16: 18,046,538 (GRCm39) |
S63G |
probably null |
Het |
| Zfp827 |
A |
G |
8: 79,905,645 (GRCm39) |
E874G |
probably damaging |
Het |
| Zfy1 |
T |
A |
Y: 726,531 (GRCm39) |
K411N |
possibly damaging |
Het |
|
| Other mutations in Il18rap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00662:Il18rap
|
APN |
1 |
40,581,081 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01467:Il18rap
|
APN |
1 |
40,587,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01505:Il18rap
|
APN |
1 |
40,576,244 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02215:Il18rap
|
APN |
1 |
40,587,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03307:Il18rap
|
APN |
1 |
40,582,227 (GRCm39) |
missense |
probably benign |
0.01 |
|
BB006:Il18rap
|
UTSW |
1 |
40,570,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB007:Il18rap
|
UTSW |
1 |
40,587,803 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB016:Il18rap
|
UTSW |
1 |
40,570,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB017:Il18rap
|
UTSW |
1 |
40,587,803 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0136:Il18rap
|
UTSW |
1 |
40,564,218 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0299:Il18rap
|
UTSW |
1 |
40,564,218 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0358:Il18rap
|
UTSW |
1 |
40,588,202 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0499:Il18rap
|
UTSW |
1 |
40,564,218 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0830:Il18rap
|
UTSW |
1 |
40,582,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1386:Il18rap
|
UTSW |
1 |
40,570,682 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1817:Il18rap
|
UTSW |
1 |
40,570,687 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1818:Il18rap
|
UTSW |
1 |
40,570,687 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1819:Il18rap
|
UTSW |
1 |
40,570,687 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3721:Il18rap
|
UTSW |
1 |
40,576,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5634:Il18rap
|
UTSW |
1 |
40,578,536 (GRCm39) |
intron |
probably benign |
|
|
R5663:Il18rap
|
UTSW |
1 |
40,570,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5690:Il18rap
|
UTSW |
1 |
40,576,272 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6140:Il18rap
|
UTSW |
1 |
40,564,212 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6291:Il18rap
|
UTSW |
1 |
40,564,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6859:Il18rap
|
UTSW |
1 |
40,564,255 (GRCm39) |
nonsense |
probably null |
|
|
R6992:Il18rap
|
UTSW |
1 |
40,581,195 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7317:Il18rap
|
UTSW |
1 |
40,564,536 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7402:Il18rap
|
UTSW |
1 |
40,564,111 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7465:Il18rap
|
UTSW |
1 |
40,582,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7561:Il18rap
|
UTSW |
1 |
40,563,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7929:Il18rap
|
UTSW |
1 |
40,570,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7930:Il18rap
|
UTSW |
1 |
40,587,803 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8151:Il18rap
|
UTSW |
1 |
40,564,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8201:Il18rap
|
UTSW |
1 |
40,578,429 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8356:Il18rap
|
UTSW |
1 |
40,564,084 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8701:Il18rap
|
UTSW |
1 |
40,578,501 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8870:Il18rap
|
UTSW |
1 |
40,564,280 (GRCm39) |
splice site |
probably benign |
|
|
R8874:Il18rap
|
UTSW |
1 |
40,564,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8911:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8912:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8913:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8914:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8958:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8959:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9024:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9135:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9136:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9137:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9138:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9194:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9197:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9198:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9200:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9201:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9218:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9353:Il18rap
|
UTSW |
1 |
40,587,088 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9465:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9466:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9535:Il18rap
|
UTSW |
1 |
40,586,990 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGACCAGATCAGTCCATGAG -3'
(R):5'- CACTTTAATGGTTGCCGGTG -3'
Sequencing Primer
(F):5'- TCACATGAACGATTCTAAGAGACATC -3'
(R):5'- CCGGTGTGTGGCTATCTC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation