Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00662:Il18rap'

11440

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Il18rap

Ensembl Gene

ENSMUSG00000026068

Gene Name

interleukin 18 receptor accessory protein

Synonyms

AcPL accessory protein-like)

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00662

Quality Score

Status

Chromosome

Chromosomal Location

40554522-40590865 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 40581081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 318 (R318C)

Ref Sequence

ENSEMBL: ENSMUSP00000027237 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027237]

AlphaFold

Q9Z2B1

Predicted Effect

probably benign
Transcript: ENSMUST00000027237
AA Change: R318C

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000027237
Gene: ENSMUSG00000026068
AA Change: R318C

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: ENSMUST00000160468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163057

Coding Region Coverage

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg16l2	T	C	7: 100,939,103 (GRCm39)	N587S	probably benign	Het
Bcar3	C	T	3: 122,306,585 (GRCm39)	A186V	probably benign	Het
Bcr	A	T	10: 75,003,932 (GRCm39)		probably benign	Het
Cd207	A	G	6: 83,652,908 (GRCm39)	I74T	possibly damaging	Het
Cenpn	T	C	8: 117,655,326 (GRCm39)		probably null	Het
Chuk	A	T	19: 44,085,649 (GRCm39)	F228I	possibly damaging	Het
Cmss1	T	C	16: 57,124,092 (GRCm39)	D233G	probably damaging	Het
Copg1	C	T	6: 87,879,352 (GRCm39)	T466I	possibly damaging	Het
Ctsll3	A	G	13: 60,946,756 (GRCm39)	S288P	probably benign	Het
Fat3	T	A	9: 15,907,723 (GRCm39)	I2760F	possibly damaging	Het
Gpi1	A	G	7: 33,915,375 (GRCm39)		probably benign	Het
Kcnk9	A	G	15: 72,417,924 (GRCm39)	S69P	probably benign	Het
Kctd18	T	C	1: 57,995,897 (GRCm39)	T127A	probably damaging	Het
Khk	T	C	5: 31,087,019 (GRCm39)		probably benign	Het
Ncapg	T	A	5: 45,850,502 (GRCm39)	S703T	possibly damaging	Het
Nup98	T	A	7: 101,844,194 (GRCm39)	N47I	probably damaging	Het
Rad1	A	G	15: 10,490,495 (GRCm39)	N154S	probably benign	Het
Rigi	A	G	4: 40,220,389 (GRCm39)		probably benign	Het
Slc35f5	T	A	1: 125,515,161 (GRCm39)	L438H	probably damaging	Het
Slc7a2	A	G	8: 41,358,659 (GRCm39)	Y334C	possibly damaging	Het
Spata17	T	C	1: 186,849,536 (GRCm39)	N124S	probably benign	Het
Tfap2c	T	C	2: 172,393,438 (GRCm39)	Y118H	probably damaging	Het
Tnpo3	A	T	6: 29,565,845 (GRCm39)	L503*	probably null	Het
Utrn	C	T	10: 12,540,705 (GRCm39)	E1907K	probably damaging	Het
Vav3	T	A	3: 109,435,708 (GRCm39)		probably benign	Het
Vps13a	T	A	19: 16,681,904 (GRCm39)	K1033I	probably damaging	Het
Zfp202	A	G	9: 40,122,339 (GRCm39)	N367S	probably benign	Het

Other mutations in Il18rap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06