Incidental Mutation 'R7465:Il18rap'
ID |
578681 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il18rap
|
Ensembl Gene |
ENSMUSG00000026068 |
Gene Name |
interleukin 18 receptor accessory protein |
Synonyms |
AcPL accessory protein-like) |
MMRRC Submission |
045539-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7465 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
40554522-40590865 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 40582249 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 390
(L390P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027237
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027237]
|
AlphaFold |
Q9Z2B1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027237
AA Change: L390P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000027237 Gene: ENSMUSG00000026068 AA Change: L390P
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (59/59) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtr1a |
A |
T |
13: 30,565,964 (GRCm39) |
D343V |
probably benign |
Het |
Anks1 |
G |
A |
17: 28,273,297 (GRCm39) |
R972Q |
possibly damaging |
Het |
Atp2a2 |
T |
C |
5: 122,599,763 (GRCm39) |
K543E |
probably benign |
Het |
Atp8b5 |
G |
A |
4: 43,271,269 (GRCm39) |
V4I |
probably benign |
Het |
Bcar3 |
A |
T |
3: 122,316,879 (GRCm39) |
N617Y |
probably benign |
Het |
Blm |
A |
G |
7: 80,162,863 (GRCm39) |
S163P |
probably benign |
Het |
Cbx3 |
A |
G |
6: 51,455,510 (GRCm39) |
D87G |
probably benign |
Het |
Celsr1 |
A |
G |
15: 85,917,593 (GRCm39) |
S127P |
probably benign |
Het |
Cndp1 |
A |
T |
18: 84,637,666 (GRCm39) |
M356K |
probably damaging |
Het |
Cnn2 |
G |
A |
10: 79,828,361 (GRCm39) |
E113K |
probably damaging |
Het |
Col17a1 |
T |
A |
19: 47,656,544 (GRCm39) |
R573* |
probably null |
Het |
Cttnbp2 |
T |
A |
6: 18,501,991 (GRCm39) |
E49V |
probably damaging |
Het |
Dipk1a |
T |
C |
5: 108,057,550 (GRCm39) |
D336G |
probably damaging |
Het |
Dynlrb2 |
T |
A |
8: 117,241,696 (GRCm39) |
V80E |
possibly damaging |
Het |
Ehbp1 |
A |
G |
11: 22,088,001 (GRCm39) |
V386A |
probably benign |
Het |
Elfn1 |
C |
T |
5: 139,957,842 (GRCm39) |
P282L |
probably benign |
Het |
Fan1 |
G |
A |
7: 64,003,386 (GRCm39) |
T812I |
probably benign |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fat1 |
G |
A |
8: 45,497,189 (GRCm39) |
V4225I |
probably benign |
Het |
Frem1 |
A |
G |
4: 82,833,072 (GRCm39) |
C1873R |
probably benign |
Het |
Fsd1l |
T |
C |
4: 53,647,755 (GRCm39) |
I66T |
probably benign |
Het |
Gabrr1 |
C |
A |
4: 33,146,970 (GRCm39) |
D52E |
probably benign |
Het |
Il27ra |
T |
A |
8: 84,766,241 (GRCm39) |
D181V |
probably benign |
Het |
Irgq |
C |
A |
7: 24,233,834 (GRCm39) |
H558Q |
probably damaging |
Het |
Itsn2 |
C |
T |
12: 4,756,983 (GRCm39) |
Q1358* |
probably null |
Het |
Kmt2c |
C |
T |
5: 25,507,847 (GRCm39) |
G3197S |
probably damaging |
Het |
Lrrk2 |
A |
G |
15: 91,651,543 (GRCm39) |
Y1733C |
probably damaging |
Het |
Mapk7 |
G |
A |
11: 61,381,279 (GRCm39) |
A510V |
probably damaging |
Het |
Mtch1 |
A |
T |
17: 29,551,698 (GRCm39) |
C385S |
probably benign |
Het |
Nfib |
A |
G |
4: 82,271,758 (GRCm39) |
|
probably null |
Het |
Nostrin |
C |
T |
2: 69,015,851 (GRCm39) |
T448M |
possibly damaging |
Het |
Or12j4 |
T |
A |
7: 140,046,711 (GRCm39) |
V199D |
probably damaging |
Het |
Or4c12b |
T |
C |
2: 89,646,880 (GRCm39) |
L64P |
probably damaging |
Het |
Or52e18 |
A |
G |
7: 104,609,124 (GRCm39) |
Y272H |
probably benign |
Het |
Or5a3 |
T |
A |
19: 12,400,509 (GRCm39) |
Y279N |
probably damaging |
Het |
Or5an10 |
T |
C |
19: 12,275,801 (GRCm39) |
I232V |
probably benign |
Het |
Or8k28 |
A |
G |
2: 86,286,150 (GRCm39) |
V155A |
probably benign |
Het |
Pcdha2 |
T |
C |
18: 37,073,383 (GRCm39) |
V338A |
probably damaging |
Het |
Pcdhgc3 |
A |
G |
18: 37,940,798 (GRCm39) |
T400A |
probably benign |
Het |
Piezo2 |
C |
T |
18: 63,145,794 (GRCm39) |
S2710N |
probably benign |
Het |
Ppp4r1 |
T |
A |
17: 66,138,015 (GRCm39) |
Y591* |
probably null |
Het |
Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
Rab42 |
T |
C |
4: 132,029,925 (GRCm39) |
E99G |
possibly damaging |
Het |
Rd3l |
A |
T |
12: 111,945,916 (GRCm39) |
W188R |
probably damaging |
Het |
Sap30bp |
A |
G |
11: 115,842,794 (GRCm39) |
D89G |
probably benign |
Het |
Sptbn4 |
T |
C |
7: 27,066,114 (GRCm39) |
T1985A |
probably benign |
Het |
Tec |
T |
C |
5: 72,931,223 (GRCm39) |
Y247C |
probably damaging |
Het |
Tek |
G |
A |
4: 94,716,063 (GRCm39) |
|
probably null |
Het |
Tex14 |
T |
C |
11: 87,405,256 (GRCm39) |
S723P |
possibly damaging |
Het |
Thumpd3 |
T |
A |
6: 113,024,592 (GRCm39) |
L62Q |
probably damaging |
Het |
Tlr12 |
A |
T |
4: 128,509,963 (GRCm39) |
D762E |
probably damaging |
Het |
Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
Txndc16 |
T |
A |
14: 45,402,845 (GRCm39) |
I316F |
probably damaging |
Het |
Vamp1 |
T |
C |
6: 125,195,538 (GRCm39) |
S2P |
unknown |
Het |
Vmn1r211 |
T |
A |
13: 23,036,086 (GRCm39) |
M194L |
probably benign |
Het |
Zfp874a |
T |
A |
13: 67,590,376 (GRCm39) |
Q436L |
probably 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 |
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 |
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'- CCATCCAGACTTGAGATGACAG -3'
(R):5'- CAGGCATTAGCTACCTCTGAC -3'
Sequencing Primer
(F):5'- CAGAGATAGCAGCATGGCTTTC -3'
(R):5'- GACTTTTCTCATGGGCTCTGGC -3'
|
Posted On |
2019-10-07 |