Mutagenetix > Incidental Mutation

Incidental Mutation 'R7793:Il18r1'

600003

Institutional Source

Beutler Lab

Gene Symbol

Il18r1

Ensembl Gene

ENSMUSG00000026070

Gene Name

interleukin 18 receptor 1

Synonyms

Il1rrp, Il18ralpha

MMRRC Submission

045849-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7793 (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 40510924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 3 (H3R)

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: H3R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000085298
Gene: ENSMUSG00000026070
AA Change: H3R

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: H3R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103679
Gene: ENSMUSG00000026070
AA Change: H3R

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: H3R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000128277
Gene: ENSMUSG00000026070
AA Change: H3R

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: H3R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000141695
Gene: ENSMUSG00000026070
AA Change: H3R

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: H3R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000141464
Gene: ENSMUSG00000026070
AA Change: H3R

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: H3R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000142070
Gene: ENSMUSG00000026070
AA Change: H3R

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: 99.6%
20x: 98.8%

Validation Efficiency

100% (94/94)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	T	G	7: 30,399,368 (GRCm39)	I54S	probably damaging	Het
2310002L09Rik	C	T	4: 73,861,172 (GRCm39)	V143M	probably benign	Het
Abca1	T	C	4: 53,042,367 (GRCm39)	I1902V	not run	Het
Apob	A	C	12: 8,058,124 (GRCm39)	D2202A	probably damaging	Het
Arhgap44	T	A	11: 64,900,750 (GRCm39)	S623C	probably damaging	Het
Arhgef7	T	A	8: 11,874,507 (GRCm39)	W713R	possibly damaging	Het
Axdnd1	A	C	1: 156,166,313 (GRCm39)		probably null	Het
Bcl9l	C	A	9: 44,420,994 (GRCm39)	H1467N	probably damaging	Het
Bcl9l	T	C	9: 44,420,263 (GRCm39)	M1223T	probably benign	Het
Bltp2	C	T	11: 78,164,031 (GRCm39)	P1124L	possibly damaging	Het
Brinp3	A	G	1: 146,622,306 (GRCm39)	N236S	probably benign	Het
Cckbr	T	G	7: 105,082,798 (GRCm39)	L54V	probably benign	Het
Cd6	G	A	19: 10,775,722 (GRCm39)	Q246*	probably null	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Ces3a	T	A	8: 105,782,293 (GRCm39)		probably null	Het
Cgnl1	T	A	9: 71,632,917 (GRCm39)	N145Y	probably damaging	Het
Col6a5	T	C	9: 105,775,934 (GRCm39)	D1707G	probably damaging	Het
Cyp2w1	A	G	5: 139,341,895 (GRCm39)	T103A	probably damaging	Het
Dip2a	A	T	10: 76,114,417 (GRCm39)	I1021N	probably benign	Het
Dnah2	T	C	11: 69,386,040 (GRCm39)	T981A	probably benign	Het
Dnah8	A	G	17: 31,074,918 (GRCm39)	I4546V	probably benign	Het
E2f8	A	C	7: 48,527,823 (GRCm39)	F106L	probably benign	Het
Ecpas	T	C	4: 58,853,150 (GRCm39)	N395S	probably damaging	Het
Eif4g1	G	A	16: 20,507,364 (GRCm39)	V1413I	probably benign	Het
Epha10	G	A	4: 124,808,246 (GRCm39)	V688I	probably benign	Het
Exoc2	A	T	13: 31,095,161 (GRCm39)	V245D	probably benign	Het
Eya4	T	A	10: 23,102,714 (GRCm39)	E23D	probably benign	Het
Fbxw10	T	A	11: 62,738,213 (GRCm39)	W36R	possibly damaging	Het
Gabbr1	G	A	17: 37,358,393 (GRCm39)	G44S	probably benign	Het
Gabrg3	T	A	7: 56,829,328 (GRCm39)	Q143L	probably benign	Het
Gm14412	A	C	2: 177,007,660 (GRCm39)	I78M	possibly damaging	Het
Gm7298	T	C	6: 121,737,563 (GRCm39)		probably null	Het
Hpse2	A	T	19: 43,376,509 (GRCm39)	L81Q	probably damaging	Het
Kansl1l	T	C	1: 66,817,173 (GRCm39)	K396E	probably damaging	Het
Kbtbd3	T	A	9: 4,331,221 (GRCm39)	S532T	probably damaging	Het
Lrrtm4	T	C	6: 79,999,841 (GRCm39)	Y418H	probably damaging	Het
Mfng	G	A	15: 78,657,265 (GRCm39)	R70C	probably damaging	Het
Mx2	T	A	16: 97,348,083 (GRCm39)	I236K	probably damaging	Het
Mysm1	T	C	4: 94,853,369 (GRCm39)	Q410R	probably damaging	Het
Nlrp12	T	C	7: 3,294,030 (GRCm39)	N100S	probably benign	Het
Nlrp4b	T	A	7: 10,459,001 (GRCm39)	H773Q	probably benign	Het
Nlrp5	T	A	7: 23,123,343 (GRCm39)	S735T	possibly damaging	Het
Nt5c2	G	A	19: 46,880,020 (GRCm39)	R363W	probably benign	Het
Or12k8	A	G	2: 36,974,933 (GRCm39)	F276L	possibly damaging	Het
Or3a10	T	A	11: 73,935,614 (GRCm39)	H162L	possibly damaging	Het
Otud7b	A	T	3: 96,062,528 (GRCm39)	Y589F	probably benign	Het
P2rx1	T	A	11: 72,900,079 (GRCm39)	C165*	probably null	Het
Pax8	T	C	2: 24,319,609 (GRCm39)	D354G	possibly damaging	Het
Pdcd11	G	A	19: 47,094,871 (GRCm39)	V552I	probably benign	Het
Pde6c	G	T	19: 38,148,201 (GRCm39)	C485F	possibly damaging	Het
Pex5	T	C	6: 124,376,300 (GRCm39)	Y434C	probably benign	Het
Ppargc1a	T	C	5: 51,619,851 (GRCm39)		probably null	Het
Prss2	A	T	6: 41,501,886 (GRCm39)	D224V	possibly damaging	Het
Psd2	A	G	18: 36,136,032 (GRCm39)	N440S	probably benign	Het
Psmb3	T	A	11: 97,603,265 (GRCm39)	D159E	probably benign	Het
Ptgr2	T	G	12: 84,354,575 (GRCm39)	L252R	probably damaging	Het
Ptpro	A	T	6: 137,393,818 (GRCm39)	N829Y	probably damaging	Het
Rhobtb2	C	A	14: 70,034,280 (GRCm39)	R315L	probably benign	Het
Rimbp2	A	T	5: 128,866,759 (GRCm39)	V520D	possibly damaging	Het
Schip1	A	T	3: 68,401,911 (GRCm39)	Y24F	probably benign	Het
Sdha	A	T	13: 74,479,555 (GRCm39)	V432E	probably damaging	Het
Sez6	T	C	11: 77,868,426 (GRCm39)	L929P	probably damaging	Het
Shcbp1l	A	G	1: 153,323,571 (GRCm39)	I466V	probably benign	Het
Skor1	T	C	9: 63,052,167 (GRCm39)	S601G	probably damaging	Het
Slc6a7	A	C	18: 61,138,851 (GRCm39)	L219R	probably damaging	Het
Smok2a	T	C	17: 13,444,513 (GRCm39)	M30T	possibly damaging	Het
Sp8	A	G	12: 118,813,144 (GRCm39)	D333G	probably damaging	Het
Spp1	G	A	5: 104,588,200 (GRCm39)	D201N	probably damaging	Het
Sstr3	A	T	15: 78,424,588 (GRCm39)	L53Q	probably damaging	Het
Tacc2	T	A	7: 130,224,843 (GRCm39)	N509K	probably benign	Het
Tdrd1	T	C	19: 56,852,809 (GRCm39)	V1030A	probably damaging	Het
Tfrc	A	G	16: 32,437,985 (GRCm39)	K346R	probably benign	Het
Tgm3	G	A	2: 129,854,330 (GRCm39)		probably null	Het
Tomm5	C	A	4: 45,106,651 (GRCm39)	L88F	unknown	Het
Trak1	T	A	9: 121,245,264 (GRCm39)	C46*	probably null	Het
Trim8	A	T	19: 46,504,053 (GRCm39)	D535V	probably damaging	Het
Trpm7	A	T	2: 126,665,995 (GRCm39)	Y870*	probably null	Het
Tspoap1	T	C	11: 87,655,136 (GRCm39)	L286P	probably benign	Het
Ttll3	AAGTA	AAGTAGAGTA	6: 113,376,120 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,562,389 (GRCm39)	I28819F	probably damaging	Het
Twf2	T	C	9: 106,089,079 (GRCm39)	S89P	probably damaging	Het
Ulk4	C	T	9: 121,092,734 (GRCm39)	E168K	possibly damaging	Het
Unc13b	T	A	4: 43,172,737 (GRCm39)	N1188K	unknown	Het
Utp6	C	T	11: 79,828,556 (GRCm39)	V528I	probably benign	Het
Vmn1r78	T	C	7: 11,887,241 (GRCm39)	F284S	probably benign	Het
Vmn2r54	T	A	7: 12,366,196 (GRCm39)	Q246L	probably damaging	Het
Vmn2r87	A	G	10: 130,313,413 (GRCm39)	M451T	probably benign	Het
Vwf	C	T	6: 125,663,483 (GRCm39)	P2808L		Het
Wdr97	T	C	15: 76,243,307 (GRCm39)	L989P		Het
Wwc1	T	C	11: 35,759,936 (GRCm39)	Q693R	probably benign	Het
Zfp582	C	T	7: 6,356,886 (GRCm39)	S233L	probably damaging	Het
Zfp658	T	A	7: 43,224,108 (GRCm39)	H794Q	possibly damaging	Het
Zfp882	A	G	8: 72,666,985 (GRCm39)	D8G	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
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
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'- TGACTAAAAGTTTGGTACACTGGAC -3'
(R):5'- CCCCAGGAAGAGCAAGTATTTC -3'

Sequencing Primer
(F):5'- AAGTTTGGTACACTGGACTATTTTAG -3'
(R):5'- CTGTGTCAGCTATCAGAAC -3'

Posted On

2019-11-26