Mutagenetix > Incidental Mutation

Incidental Mutation 'R0532:Il18r1'

49205

Institutional Source

Beutler Lab

Gene Symbol

Il18r1

Ensembl Gene

ENSMUSG00000026070

Gene Name

interleukin 18 receptor 1

Synonyms

Il1rrp, Il18ralpha

MMRRC Submission

038724-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0532 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40504712-40540014 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40514061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 89 (V89A)

Ref Sequence

ENSEMBL: ENSMUSP00000141464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087983] [ENSMUST00000108044] [ENSMUST00000167723] [ENSMUST00000193391] [ENSMUST00000193793] [ENSMUST00000195684]

AlphaFold

Q61098

Predicted Effect

probably benign
Transcript: ENSMUST00000087983
AA Change: V89A

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000085298
Gene: ENSMUSG00000026070
AA Change: V89A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	25	113	8.93e-1	SMART
IG_like	126	204	7.06e0	SMART
IG	219	315	3.63e0	SMART
transmembrane domain	326	348	N/A	INTRINSIC
TIR	371	519	3.8e-37	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108044
AA Change: V89A

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103679
Gene: ENSMUSG00000026070
AA Change: V89A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	25	113	8.93e-1	SMART
IG_like	126	204	7.06e0	SMART
IG	219	315	3.63e0	SMART
transmembrane domain	326	348	N/A	INTRINSIC
TIR	371	519	3.8e-37	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167723
AA Change: V89A

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128277
Gene: ENSMUSG00000026070
AA Change: V89A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	25	113	8.93e-1	SMART
IG_like	126	204	7.06e0	SMART
IG	219	315	3.63e0	SMART
transmembrane domain	326	348	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000193391
AA Change: V89A

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141695
Gene: ENSMUSG00000026070
AA Change: V89A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	25	113	8.93e-1	SMART
IG_like	126	204	7.06e0	SMART
IG	219	315	3.63e0	SMART
transmembrane domain	326	348	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000193793
AA Change: V89A

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141464
Gene: ENSMUSG00000026070
AA Change: V89A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	25	113	3.7e-3	SMART
IG_like	132	189	9.7e-3	SMART
Pfam:Ig_2	214	263	5.2e-1	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195684
AA Change: V89A

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142070
Gene: ENSMUSG00000026070
AA Change: V89A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	25	113	8.93e-1	SMART
IG_like	126	204	7.06e0	SMART
IG	219	315	3.63e0	SMART
transmembrane domain	326	348	N/A	INTRINSIC
TIR	371	519	3.8e-37	SMART

Meta Mutation Damage Score

0.2357

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

100% (90/90)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This receptor specifically binds interleukin 18 (IL18), and is essential for IL18 mediated signal transduction. IFN-alpha and IL12 are reported to induce the expression of this receptor in NK and T cells. This gene along with four other members of the interleukin 1 receptor family, including IL1R2, IL1R1, ILRL2 (IL-1Rrp2), and IL1RL1 (T1/ST2), form a gene cluster on chromosome 2q. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit impaire Th1 cell development and defective NK cell physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	A	T	18: 6,638,618 (GRCm39)	E339V	possibly damaging	Het
9230009I02Rik	A	T	11: 50,982,405 (GRCm39)		noncoding transcript	Het
9230112D13Rik	A	T	14: 34,234,054 (GRCm39)	I79K	unknown	Het
Adam25	C	T	8: 41,208,987 (GRCm39)	T751I	probably benign	Het
Adgrv1	C	A	13: 81,727,015 (GRCm39)	V446L	probably damaging	Het
Afap1	C	A	5: 36,125,944 (GRCm39)	A313D	possibly damaging	Het
Akap6	A	G	12: 52,934,766 (GRCm39)	T753A	probably benign	Het
Aldh16a1	G	T	7: 44,792,262 (GRCm39)	T730N	probably damaging	Het
Amfr	A	T	8: 94,725,736 (GRCm39)	M215K	probably damaging	Het
Apob	A	G	12: 8,066,188 (GRCm39)	R4386G	possibly damaging	Het
Arhgap45	A	T	10: 79,857,917 (GRCm39)	M217L	possibly damaging	Het
Baiap2l2	C	T	15: 79,168,276 (GRCm39)	E49K	possibly damaging	Het
Baz1a	C	T	12: 54,981,605 (GRCm39)	E350K	possibly damaging	Het
Bbx	A	T	16: 50,086,647 (GRCm39)	V83D	probably damaging	Het
Btaf1	T	C	19: 36,928,586 (GRCm39)		probably benign	Het
Cacna2d1	G	A	5: 16,567,271 (GRCm39)	E942K	probably benign	Het
Cad	T	C	5: 31,219,531 (GRCm39)		probably benign	Het
Ccdc96	A	G	5: 36,643,710 (GRCm39)	K572R	probably benign	Het
Cdc5l	G	A	17: 45,726,610 (GRCm39)	R321W	probably damaging	Het
Cep164	G	A	9: 45,721,124 (GRCm39)	R93*	probably null	Het
Cir1	A	G	2: 73,140,799 (GRCm39)		probably null	Het
Crocc	A	G	4: 140,757,558 (GRCm39)	S912P	possibly damaging	Het
Cwf19l2	T	C	9: 3,431,057 (GRCm39)	L463P	probably benign	Het
Cyp3a59	C	T	5: 146,033,463 (GRCm39)	Q200*	probably null	Het
Cyp4b1	G	T	4: 115,484,073 (GRCm39)	P303T	probably damaging	Het
Dcbld1	C	A	10: 52,193,173 (GRCm39)	T306K	probably benign	Het
Dgat2	A	G	7: 98,818,988 (GRCm39)	V56A	possibly damaging	Het
Dnajc16	A	C	4: 141,516,320 (GRCm39)	L16R	probably damaging	Het
Dnmt1	A	C	9: 20,829,852 (GRCm39)		probably benign	Het
Dus3l	A	G	17: 57,076,308 (GRCm39)	I528V	probably damaging	Het
Egflam	T	C	15: 7,263,718 (GRCm39)	D744G	probably benign	Het
Epb41	A	C	4: 131,706,106 (GRCm39)		probably benign	Het
Eri2	C	T	7: 119,385,206 (GRCm39)	V432I	probably benign	Het
Esyt2	A	G	12: 116,320,818 (GRCm39)		probably benign	Het
Extl3	A	T	14: 65,315,122 (GRCm39)	M20K	probably benign	Het
Fam32a	A	G	8: 72,976,063 (GRCm39)	Y103C	probably damaging	Het
Fat4	T	C	3: 39,035,870 (GRCm39)	V3174A	probably benign	Het
Fbxo40	T	A	16: 36,789,984 (GRCm39)	E375D	possibly damaging	Het
Frrs1	A	G	3: 116,676,813 (GRCm39)	T182A	probably benign	Het
Fry	A	G	5: 150,357,172 (GRCm39)		probably benign	Het
Fry	T	C	5: 150,402,226 (GRCm39)		probably benign	Het
Fsip2	A	G	2: 82,808,129 (GRCm39)	I1483V	probably benign	Het
Glra3	T	A	8: 56,578,111 (GRCm39)	D389E	probably benign	Het
Gpr3	A	T	4: 132,937,796 (GRCm39)	I292N	probably damaging	Het
Grina	T	C	15: 76,133,045 (GRCm39)	M230T	probably damaging	Het
Igkv11-125	G	A	6: 67,890,603 (GRCm39)	W16*	probably null	Het
Ino80	T	C	2: 119,212,464 (GRCm39)	E1286G	possibly damaging	Het
Iqch	G	A	9: 63,415,514 (GRCm39)		probably benign	Het
Itpr2	G	T	6: 146,013,898 (GRCm39)	Q2666K	probably damaging	Het
Kcnh3	A	G	15: 99,130,844 (GRCm39)	D487G	probably damaging	Het
Kdm1a	A	G	4: 136,288,377 (GRCm39)	L402P	probably damaging	Het
Klhl10	T	G	11: 100,337,937 (GRCm39)		probably benign	Het
Krt39	T	C	11: 99,405,617 (GRCm39)	T428A	possibly damaging	Het
Mapk3	G	A	7: 126,362,558 (GRCm39)		probably benign	Het
Med13l	T	A	5: 118,897,188 (GRCm39)	S2089T	possibly damaging	Het
Mex3c	G	A	18: 73,723,124 (GRCm39)	D406N	possibly damaging	Het
Mki67	G	A	7: 135,299,893 (GRCm39)	R1714*	probably null	Het
Mmp9	C	A	2: 164,791,740 (GRCm39)	S211*	probably null	Het
Nat8f2	G	T	6: 85,844,784 (GRCm39)	Q193K	probably benign	Het
Omt2a	C	A	9: 78,220,187 (GRCm39)	A71S	possibly damaging	Het
Or10ak11	T	G	4: 118,686,897 (GRCm39)	T247P	probably damaging	Het
Or5ac22	T	C	16: 59,134,964 (GRCm39)	K269E	probably benign	Het
Pdgfra	G	A	5: 75,331,434 (GRCm39)	V315I	probably benign	Het
Pdgfrb	A	G	18: 61,216,337 (GRCm39)	D1065G	probably damaging	Het
Pfas	A	T	11: 68,893,455 (GRCm39)		probably benign	Het
Pramel5	T	C	4: 143,999,310 (GRCm39)	E259G	probably benign	Het
Prpf6	A	G	2: 181,264,004 (GRCm39)	Y222C	possibly damaging	Het
Rbck1	C	A	2: 152,166,250 (GRCm39)	Q229H	probably damaging	Het
Rdm1	T	A	11: 101,526,661 (GRCm39)	C278S	probably benign	Het
Sall1	T	C	8: 89,759,819 (GRCm39)	D95G	probably benign	Het
Scn1a	T	A	2: 66,148,167 (GRCm39)	D1126V	probably damaging	Het
Scn4a	C	T	11: 106,221,226 (GRCm39)	G811D	probably benign	Het
Sh2b1	A	G	7: 126,071,444 (GRCm39)	I247T	probably benign	Het
Shprh	C	A	10: 11,038,556 (GRCm39)	T437K	possibly damaging	Het
Slc13a4	A	T	6: 35,264,339 (GRCm39)		probably null	Het
Slc16a1	C	A	3: 104,560,734 (GRCm39)	Y346*	probably null	Het
Slc25a38	G	T	9: 119,949,772 (GRCm39)	A163S	probably damaging	Het
Slc6a12	G	A	6: 121,333,877 (GRCm39)	V238I	probably damaging	Het
Slc8b1	C	A	5: 120,657,736 (GRCm39)	D66E	probably damaging	Het
Snapin	A	G	3: 90,396,893 (GRCm39)	L106P	probably damaging	Het
Tas2r122	G	A	6: 132,688,791 (GRCm39)	S34F	possibly damaging	Het
Tiam2	A	G	17: 3,471,921 (GRCm39)	K521R	probably damaging	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Ttc3	T	C	16: 94,188,189 (GRCm39)		probably benign	Het
Uba1y	T	C	Y: 820,911 (GRCm39)	F31L	probably benign	Het
Ucp3	A	G	7: 100,131,186 (GRCm39)		probably benign	Het
Vcan	T	C	13: 89,851,891 (GRCm39)	E1023G	probably damaging	Het
Vmn2r45	A	G	7: 8,474,820 (GRCm39)	I736T	probably damaging	Het
Vps36	T	C	8: 22,708,261 (GRCm39)	F342L	probably benign	Het
Zc3hc1	A	G	6: 30,374,929 (GRCm39)		probably benign	Het
Zmym4	G	A	4: 126,792,194 (GRCm39)	Q596*	probably null	Het

Other mutations in Il18r1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Il18r1	APN	1	40,537,812 (GRCm39)	missense	possibly damaging	0.68
IGL00742:Il18r1	APN	1	40,520,151 (GRCm39)	missense	probably benign	0.11
IGL01448:Il18r1	APN	1	40,513,890 (GRCm39)	missense	probably damaging	1.00
IGL01726:Il18r1	APN	1	40,537,563 (GRCm39)	missense	possibly damaging	0.83
IGL02081:Il18r1	APN	1	40,537,665 (GRCm39)	missense	probably damaging	1.00
IGL02425:Il18r1	APN	1	40,530,381 (GRCm39)	splice site	probably benign
IGL02447:Il18r1	APN	1	40,537,497 (GRCm39)	critical splice acceptor site	probably null
IGL02529:Il18r1	APN	1	40,526,219 (GRCm39)	missense	possibly damaging	0.77
IGL02863:Il18r1	APN	1	40,526,167 (GRCm39)	missense	probably damaging	1.00
IGL02928:Il18r1	APN	1	40,517,711 (GRCm39)	critical splice donor site	probably null
IGL02941:Il18r1	APN	1	40,537,711 (GRCm39)	missense	probably damaging	0.99
IGL03156:Il18r1	APN	1	40,537,528 (GRCm39)	missense	possibly damaging	0.92
R0926:Il18r1	UTSW	1	40,526,188 (GRCm39)	missense	probably damaging	1.00
R1909:Il18r1	UTSW	1	40,514,074 (GRCm39)	missense	probably damaging	1.00
R2212:Il18r1	UTSW	1	40,530,227 (GRCm39)	missense	probably damaging	1.00
R2254:Il18r1	UTSW	1	40,530,380 (GRCm39)	missense	possibly damaging	0.91
R2860:Il18r1	UTSW	1	40,537,717 (GRCm39)	missense	possibly damaging	0.49
R2861:Il18r1	UTSW	1	40,537,717 (GRCm39)	missense	possibly damaging	0.49
R2862:Il18r1	UTSW	1	40,537,717 (GRCm39)	missense	possibly damaging	0.49
R3412:Il18r1	UTSW	1	40,530,227 (GRCm39)	missense	probably damaging	1.00
R3432:Il18r1	UTSW	1	40,526,249 (GRCm39)	missense	probably damaging	0.99
R3718:Il18r1	UTSW	1	40,534,948 (GRCm39)	missense	probably benign	0.00
R3816:Il18r1	UTSW	1	40,526,132 (GRCm39)	splice site	probably benign
R3894:Il18r1	UTSW	1	40,514,034 (GRCm39)	missense	possibly damaging	0.79
R4061:Il18r1	UTSW	1	40,514,096 (GRCm39)	missense	probably benign	0.33
R4062:Il18r1	UTSW	1	40,514,096 (GRCm39)	missense	probably benign	0.33
R4381:Il18r1	UTSW	1	40,510,950 (GRCm39)	missense	probably benign	0.00
R4972:Il18r1	UTSW	1	40,530,224 (GRCm39)	missense	probably benign	0.39
R5059:Il18r1	UTSW	1	40,520,227 (GRCm39)	critical splice donor site	probably null
R6229:Il18r1	UTSW	1	40,513,923 (GRCm39)	missense	probably benign	0.02
R6458:Il18r1	UTSW	1	40,530,342 (GRCm39)	nonsense	probably null
R6505:Il18r1	UTSW	1	40,528,867 (GRCm39)	missense	probably benign
R6738:Il18r1	UTSW	1	40,537,816 (GRCm39)	missense	probably benign	0.06
R7002:Il18r1	UTSW	1	40,514,013 (GRCm39)	missense	probably benign	0.39
R7317:Il18r1	UTSW	1	40,513,992 (GRCm39)	missense	possibly damaging	0.80
R7485:Il18r1	UTSW	1	40,520,140 (GRCm39)	missense	probably benign	0.01
R7510:Il18r1	UTSW	1	40,514,035 (GRCm39)	missense	probably benign	0.03
R7515:Il18r1	UTSW	1	40,537,830 (GRCm39)	missense	not run
R7526:Il18r1	UTSW	1	40,510,932 (GRCm39)	missense	probably damaging	0.99
R7793:Il18r1	UTSW	1	40,510,924 (GRCm39)	missense	probably benign	0.01
R7870:Il18r1	UTSW	1	40,530,296 (GRCm39)	missense	probably benign	0.45
R8004:Il18r1	UTSW	1	40,513,917 (GRCm39)	missense	probably damaging	1.00
R8063:Il18r1	UTSW	1	40,526,198 (GRCm39)	missense	probably benign	0.10
R8836:Il18r1	UTSW	1	40,535,016 (GRCm39)	missense	probably benign	0.15
R9304:Il18r1	UTSW	1	40,510,893 (GRCm39)	start gained	probably benign
R9502:Il18r1	UTSW	1	40,528,852 (GRCm39)	missense	probably benign	0.01
R9507:Il18r1	UTSW	1	40,513,884 (GRCm39)	missense	probably damaging	0.99
R9559:Il18r1	UTSW	1	40,528,793 (GRCm39)	missense	probably benign	0.01
X0023:Il18r1	UTSW	1	40,510,921 (GRCm39)	missense	probably benign	0.04
X0064:Il18r1	UTSW	1	40,534,873 (GRCm39)	splice site	probably null
Z1088:Il18r1	UTSW	1	40,517,646 (GRCm39)	missense	probably damaging	0.99
Z1088:Il18r1	UTSW	1	40,513,911 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCGATCACAAATTCATGTGGTAGAGGG -3'
(R):5'- CAGAAACGTCCAAAATCTAGGCTAGGG -3'

Sequencing Primer
(F):5'- GGGAGAACCTTTTTATCTGAAGCC -3'
(R):5'- CAGGTGCCATATCATCTGAAGTC -3'

Posted On

2013-06-12