Mutagenetix > Incidental Mutation

Incidental Mutation 'R7485:Il18r1'

580034

Institutional Source

Beutler Lab

Gene Symbol

Il18r1

Ensembl Gene

ENSMUSG00000026070

Gene Name

interleukin 18 receptor 1

Synonyms

Il1rrp, Il18ralpha

MMRRC Submission

045559-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7485 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40504712-40540014 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40520140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 177 (E177G)

Ref Sequence

ENSEMBL: ENSMUSP00000128277 (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: E177G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000085298
Gene: ENSMUSG00000026070
AA Change: E177G

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: E177G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000103679
Gene: ENSMUSG00000026070
AA Change: E177G

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: ENSMUST00000167723
AA Change: E177G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000128277
Gene: ENSMUSG00000026070
AA Change: E177G

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 benign
Transcript: ENSMUST00000193391
AA Change: E177G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000141695
Gene: ENSMUSG00000026070
AA Change: E177G

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 benign
Transcript: ENSMUST00000193793
AA Change: E177G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000141464
Gene: ENSMUSG00000026070
AA Change: E177G

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: E177G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000142070
Gene: ENSMUSG00000026070
AA Change: E177G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (99/100)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat3	C	T	10: 80,442,234 (GRCm39)	A24V	probably benign	Het
Agbl1	A	T	7: 76,239,241 (GRCm39)	E832D	unknown	Het
Akap8l	G	A	17: 32,554,545 (GRCm39)	S347L	probably benign	Het
Ankmy1	G	T	1: 92,804,379 (GRCm39)	A868E	probably damaging	Het
Ankrd49	A	T	9: 14,693,837 (GRCm39)	L110*	probably null	Het
Aoc3	A	G	11: 101,228,229 (GRCm39)	T679A	probably damaging	Het
Ap1s3	A	G	1: 79,592,018 (GRCm39)	Y111H	probably damaging	Het
Arnt	T	A	3: 95,402,659 (GRCm39)	N777K	probably damaging	Het
Atp4b	A	T	8: 13,436,732 (GRCm39)	M260K	probably benign	Het
Bcl2l15	A	T	3: 103,740,729 (GRCm39)	D65V	probably damaging	Het
Bicdl1	G	T	5: 115,801,845 (GRCm39)	S340*	probably null	Het
Ccdc15	T	C	9: 37,226,574 (GRCm39)	R467G	probably benign	Het
Ccdc68	T	A	18: 70,102,084 (GRCm39)	M327K	possibly damaging	Het
Ccdc83	T	C	7: 89,873,138 (GRCm39)	T406A	probably benign	Het
Ccnf	A	T	17: 24,468,232 (GRCm39)	V55D	probably damaging	Het
Cdcp3	C	A	7: 130,830,562 (GRCm39)	P332Q	probably damaging	Het
Cldn12	A	G	5: 5,558,008 (GRCm39)	F140L	probably benign	Het
Copb1	A	C	7: 113,844,720 (GRCm39)	I213S	possibly damaging	Het
Cps1	G	A	1: 67,179,016 (GRCm39)	G76D	probably damaging	Het
Ctrc	A	G	4: 141,567,627 (GRCm39)	W159R	probably damaging	Het
Cul4a	C	T	8: 13,190,279 (GRCm39)	T572M	possibly damaging	Het
Cyp2c40	A	T	19: 39,796,050 (GRCm39)	Y109*	probably null	Het
Dcc	A	G	18: 71,553,317 (GRCm39)	Y780H	probably benign	Het
Dctn1	C	T	6: 83,166,887 (GRCm39)	A283V	possibly damaging	Het
Dio1	T	C	4: 107,154,874 (GRCm39)	D134G	probably benign	Het
Dlg5	A	T	14: 24,198,390 (GRCm39)	D1514E	probably benign	Het
Dlg5	A	T	14: 24,227,907 (GRCm39)	L338Q	probably damaging	Het
Dlgap2	A	T	8: 14,879,952 (GRCm39)	K767N	probably damaging	Het
Dst	A	T	1: 34,313,270 (GRCm39)	I4346F	probably benign	Het
Dzip1l	T	C	9: 99,543,065 (GRCm39)	F507L	probably benign	Het
Erich2	A	T	2: 70,362,109 (GRCm39)	D300V	probably damaging	Het
Fam114a2	C	T	11: 57,404,515 (GRCm39)	G83D	probably damaging	Het
Fam131a	C	T	16: 20,520,444 (GRCm39)	A299V	probably benign	Het
Fbln2	A	G	6: 91,247,143 (GRCm39)		probably null	Het
Fbn2	T	C	18: 58,204,912 (GRCm39)	D1177G	possibly damaging	Het
Fbxl6	T	C	15: 76,422,113 (GRCm39)		probably null	Het
Frem3	A	T	8: 81,339,965 (GRCm39)	I753F	probably damaging	Het
Gfra1	A	G	19: 58,288,744 (GRCm39)	S234P	probably damaging	Het
Gtse1	T	A	15: 85,752,901 (GRCm39)	S339T	probably benign	Het
Hdgfl3	T	C	7: 81,550,106 (GRCm39)	N76S	probably benign	Het
Herc6	A	G	6: 57,558,089 (GRCm39)	E23G	probably benign	Het
Hid1	T	A	11: 115,245,545 (GRCm39)	H420L	probably damaging	Het
Igsf21	G	A	4: 139,755,049 (GRCm39)	T440I	probably benign	Het
Ikzf4	T	A	10: 128,468,451 (GRCm39)	H676L	unknown	Het
Iqch	A	G	9: 63,415,599 (GRCm39)	Y558H	possibly damaging	Het
Kif11	A	T	19: 37,399,072 (GRCm39)	N752I	possibly damaging	Het
Kntc1	T	A	5: 123,925,019 (GRCm39)	C1111S	possibly damaging	Het
Krtap9-5	A	G	11: 99,839,800 (GRCm39)	K167R	unknown	Het
Lgalsl2	C	T	7: 5,362,440 (GRCm39)	R24C	probably benign	Het
Lipe	G	T	7: 25,080,036 (GRCm39)	T704K	probably benign	Het
Lrrc32	A	T	7: 98,147,414 (GRCm39)	I65F	possibly damaging	Het
Mogs	C	T	6: 83,093,188 (GRCm39)	H179Y	probably damaging	Het
Mtnr1b	A	T	9: 15,774,590 (GRCm39)	Y156*	probably null	Het
Mtus1	T	C	8: 41,537,590 (GRCm39)	H42R	probably benign	Het
Mx2	T	A	16: 97,346,918 (GRCm39)	D128E	probably benign	Het
Myof	A	T	19: 37,939,939 (GRCm39)	L829*	probably null	Het
Naip6	T	C	13: 100,420,359 (GRCm39)	K1304E	probably benign	Het
Neo1	A	C	9: 58,791,826 (GRCm39)	S1307R	probably benign	Het
Nipbl	A	T	15: 8,359,779 (GRCm39)	D1475E	probably benign	Het
Nlrp9b	T	A	7: 19,757,875 (GRCm39)	F371I	probably damaging	Het
Nrip1	A	T	16: 76,088,338 (GRCm39)	M1073K	probably damaging	Het
Obox6	T	C	7: 15,567,863 (GRCm39)	N195D	probably damaging	Het
Or13a18	T	A	7: 140,190,091 (GRCm39)	I4K	probably benign	Het
Or1j18	T	A	2: 36,624,650 (GRCm39)	F106I	probably benign	Het
Or5ac24	A	T	16: 59,165,687 (GRCm39)	C126S	probably damaging	Het
Or5b99	C	T	19: 12,976,922 (GRCm39)	H191Y	probably benign	Het
Or5p64	C	A	7: 107,855,045 (GRCm39)	C100F	probably damaging	Het
Pax7	T	C	4: 139,511,880 (GRCm39)	K232E	probably benign	Het
Phldb3	C	T	7: 24,310,689 (GRCm39)		probably benign	Het
Pkd1l1	C	A	11: 8,915,148 (GRCm39)	V131L		Het
Ppp2r5a	A	G	1: 191,128,532 (GRCm39)	S28P	probably benign	Het
Prl8a1	A	G	13: 27,758,068 (GRCm39)	S214P	probably damaging	Het
Prmt2	A	T	10: 76,056,838 (GRCm39)	C228*	probably null	Het
Prpf8	C	T	11: 75,399,738 (GRCm39)	R2266*	probably null	Het
Rabl6	A	G	2: 25,474,153 (GRCm39)	S648P	unknown	Het
Ralgapa1	T	C	12: 55,759,457 (GRCm39)	K1022R	probably damaging	Het
Ralgapb	T	A	2: 158,285,275 (GRCm39)	D591E	probably benign	Het
Rprd1a	A	G	18: 24,639,889 (GRCm39)		probably null	Het
Rsu1	T	C	2: 13,221,686 (GRCm39)	R165G	probably damaging	Het
Samd8	A	G	14: 21,842,491 (GRCm39)	E334G	probably benign	Het
Scn9a	T	A	2: 66,364,561 (GRCm39)	Q804L	probably damaging	Het
Sez6	A	G	11: 77,864,711 (GRCm39)	D557G	probably benign	Het
Sgsm1	A	T	5: 113,427,501 (GRCm39)		probably null	Het
Slc17a3	T	A	13: 24,039,832 (GRCm39)	M290K		Het
Snd1	T	A	6: 28,531,449 (GRCm39)	V330E	probably benign	Het
Tceanc2	T	C	4: 107,022,852 (GRCm39)	K45R	probably damaging	Het
Tg	A	T	15: 66,568,437 (GRCm39)	I1375F	probably benign	Het
Tmem116	T	A	5: 121,633,124 (GRCm39)	I357K		Het
Tmem39a	G	T	16: 38,408,658 (GRCm39)	R407L	possibly damaging	Het
Tmem74	A	T	15: 43,730,761 (GRCm39)	M94K	probably benign	Het
Tpp1	C	T	7: 105,398,751 (GRCm39)	C226Y	probably damaging	Het
Trbv21	T	C	6: 41,179,861 (GRCm39)	I59T	not run	Het
Trim11	A	G	11: 58,869,463 (GRCm39)	D133G	probably benign	Het
Uaca	G	A	9: 60,753,282 (GRCm39)	V76I	probably damaging	Het
Ugt2a3	A	G	5: 87,475,539 (GRCm39)		probably null	Het
Vmn2r104	G	T	17: 20,249,737 (GRCm39)	H845N	probably benign	Het
Wdr24	T	C	17: 26,045,101 (GRCm39)	Y279H	probably damaging	Het
Zbtb46	A	G	2: 181,065,512 (GRCm39)	S213P	probably benign	Het
Zdhhc13	C	A	7: 48,461,103 (GRCm39)	Y346*	probably null	Het
Zfp280b	A	T	10: 75,875,075 (GRCm39)	H318L	probably damaging	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
R0532:Il18r1	UTSW	1	40,514,061 (GRCm39)	missense	probably damaging	0.97
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
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'- CTGCTCTAGTGGAAGCAAGG -3'
(R):5'- ACCTGAGACTTCAAGTGGTG -3'

Sequencing Primer
(F):5'- CACATACTTAGGGATTGCTGGTCATC -3'
(R):5'- GTTGTATTCTCAAACCCGAGGAG -3'

Posted On

2019-10-07