Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01505:Il18rap'

89023

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01505

Quality Score

Status

Chromosome

Chromosomal Location

40515362-40551705 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40537084 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 252 (I252V)

Ref Sequence

ENSEMBL: ENSMUSP00000027237 (fasta)

Gene Model

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

AlphaFold

Q9Z2B1

Predicted Effect

probably damaging
Transcript: ENSMUST00000027237
AA Change: I252V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027237
Gene: ENSMUSG00000026068
AA Change: I252V

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	T	C	18: 68,947,347		probably null	Het
A2m	A	G	6: 121,676,947	N1413S	possibly damaging	Het
Arhgap45	A	T	10: 80,026,542	N488Y	probably benign	Het
Arid4a	G	A	12: 71,037,115	D94N	probably damaging	Het
Atp7a	A	G	X: 106,109,830	K1114E	probably damaging	Het
Atp8a2	C	T	14: 60,028,063	V275M	probably benign	Het
Ceacam12	T	C	7: 18,067,432	V112A	probably damaging	Het
Cep295	T	A	9: 15,318,049	D2256V	probably benign	Het
Chid1	A	T	7: 141,513,894		probably null	Het
Clcn5	A	T	X: 7,170,439	L268*	probably null	Het
Cldn17	A	G	16: 88,506,703	I46T	possibly damaging	Het
Cnot1	A	T	8: 95,728,718	I2025N	probably damaging	Het
Cntn5	C	T	9: 9,706,087	V574M	probably damaging	Het
Col14a1	T	A	15: 55,455,223	C1373S	unknown	Het
Col9a1	A	G	1: 24,185,124	N129S	unknown	Het
Cp	C	T	3: 19,977,192	P598S	possibly damaging	Het
Cpb1	G	A	3: 20,266,246	R150C	probably damaging	Het
Cyp2j7	T	A	4: 96,227,680		probably null	Het
Dnajb7	T	C	15: 81,407,491	E215G	possibly damaging	Het
Dock1	G	A	7: 135,158,510	R1634Q	possibly damaging	Het
Dopey2	A	G	16: 93,757,116	T313A	possibly damaging	Het
Fgd2	T	A	17: 29,366,997	V185E	probably damaging	Het
Flnb	T	C	14: 7,902,003		probably null	Het
Fzd7	A	G	1: 59,483,903	E315G	probably benign	Het
Gjc1	T	A	11: 102,800,726	K150N	probably benign	Het
Gm436	C	T	4: 144,674,618	V99M	probably damaging	Het
Gpihbp1	C	T	15: 75,598,128		probably benign	Het
Gpr160	T	C	3: 30,895,853	S25P	possibly damaging	Het
Grsf1	G	A	5: 88,672,749	R58*	probably null	Het
Ifit1	T	A	19: 34,648,454	M330K	probably benign	Het
Igkv1-122	T	C	6: 68,017,194	V22A	probably benign	Het
Ikbke	A	T	1: 131,255,311	D692E	probably benign	Het
Il15ra	T	C	2: 11,733,145		probably benign	Het
Klra10	C	T	6: 130,272,717	G202R	probably damaging	Het
Kpna7	A	G	5: 144,992,851	V388A	probably damaging	Het
L2hgdh	A	G	12: 69,721,401	S108P	probably damaging	Het
Msto1	G	A	3: 88,910,743	T388M	probably benign	Het
Naip1	T	C	13: 100,425,933	E908G	probably damaging	Het
Neto1	C	A	18: 86,473,689	D238E	possibly damaging	Het
Nlrp5	T	A	7: 23,417,734	D294E	probably benign	Het
Nr3c2	T	C	8: 76,909,187	S306P	probably damaging	Het
Olfr890	T	A	9: 38,143,871	C240*	probably null	Het
Pard3	T	A	8: 127,324,063	L202H	probably damaging	Het
Pdzd2	T	C	15: 12,458,207	N190S	probably damaging	Het
Pi4ka	T	C	16: 17,309,358	D1077G	probably benign	Het
Pmfbp1	A	C	8: 109,513,911	L208F	probably damaging	Het
Pms1	C	T	1: 53,206,971	D470N	probably benign	Het
Prdm10	T	C	9: 31,327,282	F108L	probably benign	Het
Rab11fip1	A	T	8: 27,154,776	M327K	possibly damaging	Het
Slc37a4	T	A	9: 44,399,964	L184Q	probably damaging	Het
Smdt1	T	C	15: 82,347,893		probably benign	Het
Smg6	A	G	11: 75,156,291	Y1270C	probably damaging	Het
Speer4f2	T	A	5: 17,376,567	V169E	possibly damaging	Het
Stpg2	C	T	3: 139,317,453	A410V	probably benign	Het
Tnrc6b	T	A	15: 80,879,963	D555E	probably benign	Het
Tsg101	A	G	7: 46,909,060	Y46H	probably damaging	Het
Vmn2r111	G	A	17: 22,548,572	S648L	probably benign	Het
Vmn2r73	T	A	7: 85,858,059	R682*	probably null	Het
Xkr5	A	T	8: 18,933,498	I676N	probably damaging	Het

Other mutations in Il18rap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Il18rap	APN	1	40541921	missense	probably benign	0.03
IGL01467:Il18rap	APN	1	40548639	missense	probably damaging	1.00
IGL02215:Il18rap	APN	1	40547922	missense	probably damaging	1.00
IGL03307:Il18rap	APN	1	40543067	missense	probably benign	0.01
BB006:Il18rap	UTSW	1	40531580	missense	probably damaging	1.00
BB007:Il18rap	UTSW	1	40548643	missense	probably damaging	0.99
BB016:Il18rap	UTSW	1	40531580	missense	probably damaging	1.00
BB017:Il18rap	UTSW	1	40548643	missense	probably damaging	0.99
R0136:Il18rap	UTSW	1	40525058	missense	probably benign	0.04
R0299:Il18rap	UTSW	1	40525058	missense	probably benign	0.04
R0358:Il18rap	UTSW	1	40549042	missense	possibly damaging	0.53
R0499:Il18rap	UTSW	1	40525058	missense	probably benign	0.04
R0830:Il18rap	UTSW	1	40542990	missense	probably damaging	1.00
R1386:Il18rap	UTSW	1	40531522	missense	probably benign	0.00
R1817:Il18rap	UTSW	1	40531527	missense	probably benign	0.04
R1818:Il18rap	UTSW	1	40531527	missense	probably benign	0.04
R1819:Il18rap	UTSW	1	40531527	missense	probably benign	0.04
R3721:Il18rap	UTSW	1	40537088	missense	probably damaging	1.00
R5634:Il18rap	UTSW	1	40539376	intron	probably benign
R5663:Il18rap	UTSW	1	40531557	missense	probably damaging	1.00
R5690:Il18rap	UTSW	1	40537112	missense	possibly damaging	0.73
R5825:Il18rap	UTSW	1	40531566	missense	probably benign	0.38
R6140:Il18rap	UTSW	1	40525052	missense	probably benign	0.04
R6291:Il18rap	UTSW	1	40524889	missense	probably benign	0.00
R6859:Il18rap	UTSW	1	40525095	nonsense	probably null
R6992:Il18rap	UTSW	1	40542035	missense	probably benign	0.00
R7317:Il18rap	UTSW	1	40525376	missense	probably damaging	0.98
R7402:Il18rap	UTSW	1	40524951	missense	probably benign	0.01
R7465:Il18rap	UTSW	1	40543089	missense	probably damaging	1.00
R7561:Il18rap	UTSW	1	40524377	missense	probably benign	0.00
R7929:Il18rap	UTSW	1	40531580	missense	probably damaging	1.00
R7930:Il18rap	UTSW	1	40548643	missense	probably damaging	0.99
R8151:Il18rap	UTSW	1	40525268	missense	probably benign	0.00
R8201:Il18rap	UTSW	1	40539269	missense	possibly damaging	0.75
R8356:Il18rap	UTSW	1	40524924	missense	probably benign	0.28
R8701:Il18rap	UTSW	1	40539341	missense	probably benign	0.01
R8870:Il18rap	UTSW	1	40525120	splice site	probably benign
R8874:Il18rap	UTSW	1	40525346	missense	probably damaging	1.00
R8911:Il18rap	UTSW	1	40543017	missense	probably benign	0.43
R8912:Il18rap	UTSW	1	40543017	missense	probably benign	0.43
R8913:Il18rap	UTSW	1	40543017	missense	probably benign	0.43
R8914:Il18rap	UTSW	1	40543017	missense	probably benign	0.43
R8958:Il18rap	UTSW	1	40543017	missense	probably benign	0.43
R8959:Il18rap	UTSW	1	40543017	missense	probably benign	0.43
R9024:Il18rap	UTSW	1	40543017	missense	probably benign	0.43
R9135:Il18rap	UTSW	1	40543017	missense	probably benign	0.43
R9136:Il18rap	UTSW	1	40543017	missense	probably benign	0.43
R9137:Il18rap	UTSW	1	40543017	missense	probably benign	0.43
R9138:Il18rap	UTSW	1	40543017	missense	probably benign	0.43
R9194:Il18rap	UTSW	1	40543017	missense	probably benign	0.43
R9197:Il18rap	UTSW	1	40543017	missense	probably benign	0.43
R9198:Il18rap	UTSW	1	40543017	missense	probably benign	0.43
R9200:Il18rap	UTSW	1	40543017	missense	probably benign	0.43
R9201:Il18rap	UTSW	1	40543017	missense	probably benign	0.43
R9218:Il18rap	UTSW	1	40543017	missense	probably benign	0.43
R9353:Il18rap	UTSW	1	40547928	missense	probably benign	0.02
R9465:Il18rap	UTSW	1	40543017	missense	probably benign	0.43
R9466:Il18rap	UTSW	1	40543017	missense	probably benign	0.43
R9535:Il18rap	UTSW	1	40547830	missense	probably benign	0.00

Posted On

2013-12-03