Incidental Mutation 'R8151:Il18rap'
| ID |
632935 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il18rap
|
| Ensembl Gene |
ENSMUSG00000026068 |
| Gene Name |
interleukin 18 receptor accessory protein |
| Synonyms |
AcPL accessory protein-like) |
| MMRRC Submission |
067577-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8151 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
40554522-40590865 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40564428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 153
(S153P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027237]
|
| AlphaFold |
Q9Z2B1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027237
AA Change: S153P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000027237
Gene: ENSMUSG00000026068
AA Change: S153P
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.5%
- 20x: 93.6%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,982,043 (GRCm39) |
I1109T |
possibly damaging |
Het |
| Aipl1 |
C |
A |
11: 71,927,584 (GRCm39) |
D44Y |
probably benign |
Het |
| Aldh8a1 |
C |
T |
10: 21,271,465 (GRCm39) |
T397M |
probably damaging |
Het |
| Btbd16 |
T |
C |
7: 130,398,825 (GRCm39) |
S278P |
probably damaging |
Het |
| Ccdc110 |
G |
A |
8: 46,395,830 (GRCm39) |
E574K |
probably damaging |
Het |
| Cd19 |
T |
A |
7: 126,013,478 (GRCm39) |
K104* |
probably null |
Het |
| Cenpe |
A |
G |
3: 134,952,783 (GRCm39) |
E1491G |
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,537,831 (GRCm39) |
S2546T |
possibly damaging |
Het |
| Col18a1 |
T |
C |
10: 76,948,418 (GRCm39) |
T365A |
unknown |
Het |
| Ctif |
G |
T |
18: 75,653,176 (GRCm39) |
D360E |
probably benign |
Het |
| Fat4 |
G |
A |
3: 38,946,203 (GRCm39) |
E1699K |
probably damaging |
Het |
| Fbxo39 |
G |
A |
11: 72,208,526 (GRCm39) |
V293M |
probably damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,852,766 (GRCm39) |
I1351T |
possibly damaging |
Het |
| Fhip1a |
A |
T |
3: 85,595,847 (GRCm39) |
I346N |
probably damaging |
Het |
| Havcr2 |
A |
G |
11: 46,366,722 (GRCm39) |
K221E |
possibly damaging |
Het |
| Hdac5 |
T |
C |
11: 102,097,294 (GRCm39) |
T209A |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,341,073 (GRCm39) |
Q1730R |
probably damaging |
Het |
| Ifi202b |
T |
C |
1: 173,804,923 (GRCm39) |
T10A |
probably benign |
Het |
| Klk1b21 |
C |
T |
7: 43,753,787 (GRCm39) |
R24* |
probably null |
Het |
| Kras |
ACTTCTTCTTCTTCTTCTTC |
ACTTCTTCTTCTTCTTC |
6: 145,166,360 (GRCm39) |
|
probably benign |
Het |
| Ldlrad4 |
A |
G |
18: 68,383,643 (GRCm39) |
E113G |
possibly damaging |
Het |
| Lhcgr |
AT |
ATT |
17: 89,049,677 (GRCm39) |
615 |
probably null |
Het |
| Macf1 |
T |
C |
4: 123,291,206 (GRCm39) |
E3895G |
possibly damaging |
Het |
| Mug1 |
T |
C |
6: 121,818,117 (GRCm39) |
S143P |
probably benign |
Het |
| Nudcd2 |
A |
T |
11: 40,624,529 (GRCm39) |
|
probably benign |
Het |
| Nup85 |
A |
G |
11: 115,468,759 (GRCm39) |
T201A |
probably benign |
Het |
| Odad2 |
A |
G |
18: 7,127,358 (GRCm39) |
F952L |
probably damaging |
Het |
| Plppr2 |
A |
G |
9: 21,852,105 (GRCm39) |
E64G |
probably damaging |
Het |
| Plvap |
A |
G |
8: 71,960,625 (GRCm39) |
S264P |
probably benign |
Het |
| Polm |
T |
C |
11: 5,787,906 (GRCm39) |
|
probably benign |
Het |
| Polr2d |
T |
A |
18: 31,928,365 (GRCm39) |
H93Q |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 162,120,005 (GRCm39) |
E154G |
probably damaging |
Het |
| Rasal2 |
C |
A |
1: 157,071,154 (GRCm39) |
G67C |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,763,683 (GRCm39) |
V329A |
possibly damaging |
Het |
| Sorl1 |
A |
G |
9: 41,979,229 (GRCm39) |
V423A |
probably damaging |
Het |
| Spef2 |
A |
G |
15: 9,601,598 (GRCm39) |
S1555P |
unknown |
Het |
| Srgap3 |
A |
C |
6: 112,793,628 (GRCm39) |
L116R |
probably damaging |
Het |
| St6galnac3 |
C |
T |
3: 153,117,217 (GRCm39) |
V169M |
probably damaging |
Het |
| Stx16 |
T |
A |
2: 173,935,284 (GRCm39) |
M206K |
possibly damaging |
Het |
| Txnip |
A |
G |
3: 96,466,929 (GRCm39) |
D201G |
possibly damaging |
Het |
| Ubr4 |
T |
C |
4: 139,130,112 (GRCm39) |
V718A |
probably damaging |
Het |
| Vav3 |
A |
C |
3: 109,416,164 (GRCm39) |
D261A |
probably benign |
Het |
| Vcam1 |
A |
C |
3: 115,918,128 (GRCm39) |
L278V |
possibly damaging |
Het |
| Vta1 |
C |
A |
10: 14,543,697 (GRCm39) |
A226S |
probably damaging |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp777 |
G |
A |
6: 48,006,075 (GRCm39) |
Q440* |
probably null |
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 |
|
R5825:Il18rap
|
UTSW |
1 |
40,570,726 (GRCm39) |
missense |
probably benign |
0.38 |
|
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 |
|
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'- CACAGACGAACAGCATTTGGTC -3'
(R):5'- GCCTTAGGCTCTCTAACTCATG -3'
Sequencing Primer
(F):5'- GCATTTGGTCATATATTTGTAGACCC -3'
(R):5'- GTCATCTCTGGACTCTGT -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation