Mutagenetix > Incidental Mutation

Incidental Mutation 'R0019:Il1r2'

15769

Institutional Source

Beutler Lab

Gene Symbol

Il1r2

Ensembl Gene

ENSMUSG00000026073

Gene Name

interleukin 1 receptor, type II

Synonyms

Il1r-2, IL-1 receptor beta chain, CD121b

MMRRC Submission

038314-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0019 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

40123872-40164390 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 40164210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 359 (T359M)

Ref Sequence

ENSEMBL: ENSMUSP00000027243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027243] [ENSMUST00000195770]

AlphaFold

P27931

Predicted Effect

probably damaging
Transcript: ENSMUST00000027243
AA Change: T359M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027243
Gene: ENSMUSG00000026073
AA Change: T359M

Domain	Start	End	E-Value	Type
IG	49	138	2.48e-8	SMART
IG	149	241	1.6e-2	SMART
IG	255	354	1.32e-3	SMART
transmembrane domain	359	381	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195770

Meta Mutation Damage Score

0.2327

Coding Region Coverage

1x: 83.5%
3x: 78.2%
10x: 64.4%
20x: 48.4%

Validation Efficiency

91% (93/102)

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 protein binds interleukin alpha (IL1A), interleukin beta (IL1B), and interleukin 1 receptor, type I(IL1R1/IL1RA), and acts as a decoy receptor that inhibits the activity of its ligands. Interleukin 4 (IL4) is reported to antagonize the activity of interleukin 1 by inducing the expression and release of this cytokine. This gene and three other genes form a cytokine receptor gene cluster on chromosome 2q12. Alternative splicing results in multiple transcript variants and protein isoforms. Alternative splicing produces both membrane-bound and soluble proteins. A soluble protein is also produced by proteolytic cleavage. [provided by RefSeq, May 2012]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13a	T	A	5: 114,924,142 (GRCm39)		probably benign	Het
Arhgef12	A	T	9: 42,889,529 (GRCm39)	W1029R	probably damaging	Het
Aunip	T	A	4: 134,250,823 (GRCm39)	L256*	probably null	Het
Bahcc1	T	A	11: 120,180,597 (GRCm39)	M2607K	probably damaging	Het
Bltp3b	A	G	10: 89,611,831 (GRCm39)	T5A	probably damaging	Het
Cacng6	G	T	7: 3,480,384 (GRCm39)	M152I	possibly damaging	Het
Cep120	A	G	18: 53,842,119 (GRCm39)		probably benign	Het
D130043K22Rik	T	A	13: 25,064,795 (GRCm39)	V737D	probably damaging	Het
Dock10	A	G	1: 80,583,642 (GRCm39)	S187P	probably damaging	Het
Eogt	C	T	6: 97,111,234 (GRCm39)		probably benign	Het
Fasn	A	T	11: 120,698,824 (GRCm39)		probably benign	Het
Frem2	C	T	3: 53,431,099 (GRCm39)	V2745M	probably damaging	Het
Fshb	T	C	2: 106,887,690 (GRCm39)	S110G	probably benign	Het
Gpi1	A	G	7: 33,920,324 (GRCm39)	Y144H	probably damaging	Het
Gsap	T	C	5: 21,475,620 (GRCm39)		probably benign	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Herc3	T	C	6: 58,862,050 (GRCm39)		probably benign	Het
Il6st	T	C	13: 112,637,682 (GRCm39)	C563R	possibly damaging	Het
Irs1	T	A	1: 82,264,977 (GRCm39)	K1080*	probably null	Het
Itpr1	T	C	6: 108,331,587 (GRCm39)	V182A	probably damaging	Het
Kalrn	C	T	16: 34,018,884 (GRCm39)		probably benign	Het
Kcnj11	G	A	7: 45,748,363 (GRCm39)	A320V	probably benign	Het
Lrig1	T	A	6: 94,584,330 (GRCm39)	R905*	probably null	Het
Lrrc43	T	C	5: 123,639,378 (GRCm39)	L469P	probably damaging	Het
Med29	A	T	7: 28,090,501 (GRCm39)		probably benign	Het
Mroh7	T	C	4: 106,578,623 (GRCm39)	I18M	probably benign	Het
Nalcn	A	C	14: 123,744,901 (GRCm39)	C376G	probably benign	Het
Ncor2	C	T	5: 125,196,545 (GRCm39)		probably null	Het
Nek1	T	A	8: 61,542,768 (GRCm39)	M786K	probably benign	Het
Nrxn2	A	G	19: 6,559,987 (GRCm39)		probably benign	Het
Nxpe2	T	C	9: 48,231,080 (GRCm39)	I430V	probably benign	Het
Pcolce2	A	G	9: 95,577,017 (GRCm39)		probably null	Het
Pdcl	A	T	2: 37,241,932 (GRCm39)	L273M	probably damaging	Het
Pml	A	T	9: 58,127,776 (GRCm39)	S610R	probably damaging	Het
Polk	C	A	13: 96,641,124 (GRCm39)	R144S	probably damaging	Het
Rlf	A	G	4: 121,003,769 (GRCm39)	V1737A	possibly damaging	Het
Rubcnl	T	A	14: 75,285,703 (GRCm39)		probably benign	Het
Scn3a	A	T	2: 65,292,045 (GRCm39)	V1567E	probably damaging	Het
Scyl2	A	G	10: 89,495,183 (GRCm39)	I296T	probably benign	Het
Slc15a3	A	G	19: 10,833,404 (GRCm39)	I474V	probably damaging	Het
Sstr1	T	C	12: 58,259,935 (GRCm39)	L186S	probably damaging	Het
Tmem108	A	T	9: 103,366,539 (GRCm39)	V484D	possibly damaging	Het
Trim69	A	T	2: 122,004,958 (GRCm39)		probably null	Het
Trim80	T	G	11: 115,338,768 (GRCm39)	Y533D	probably damaging	Het
Unc13b	T	C	4: 43,096,990 (GRCm39)	I121T	possibly damaging	Het
Usp40	T	C	1: 87,906,133 (GRCm39)	T701A	probably benign	Het
Xpr1	A	G	1: 155,208,145 (GRCm39)		probably benign	Het
Ywhab	T	A	2: 163,858,090 (GRCm39)	I219N	probably damaging	Het
Zfp219	G	T	14: 52,246,485 (GRCm39)	T169K	probably damaging	Het

Other mutations in Il1r2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01945:Il1r2	APN	1	40,141,613 (GRCm39)	missense	possibly damaging	0.66
IGL02673:Il1r2	APN	1	40,154,323 (GRCm39)	missense	probably damaging	1.00
R0019:Il1r2	UTSW	1	40,164,210 (GRCm39)	missense	probably damaging	1.00
R0299:Il1r2	UTSW	1	40,162,309 (GRCm39)	nonsense	probably null
R0499:Il1r2	UTSW	1	40,162,309 (GRCm39)	nonsense	probably null
R0607:Il1r2	UTSW	1	40,144,615 (GRCm39)	missense	probably benign	0.06
R1435:Il1r2	UTSW	1	40,144,459 (GRCm39)	missense	probably damaging	0.99
R1925:Il1r2	UTSW	1	40,154,308 (GRCm39)	missense	probably damaging	0.99
R2209:Il1r2	UTSW	1	40,154,298 (GRCm39)	missense	probably benign	0.02
R2240:Il1r2	UTSW	1	40,144,630 (GRCm39)	missense	probably damaging	1.00
R4997:Il1r2	UTSW	1	40,160,206 (GRCm39)	critical splice donor site	probably null
R7273:Il1r2	UTSW	1	40,151,167 (GRCm39)	missense	probably benign	0.06
R7331:Il1r2	UTSW	1	40,162,409 (GRCm39)	missense	probably benign	0.11
R7401:Il1r2	UTSW	1	40,162,370 (GRCm39)	missense	probably damaging	1.00
R7751:Il1r2	UTSW	1	40,162,371 (GRCm39)	missense	probably damaging	1.00
R7841:Il1r2	UTSW	1	40,144,628 (GRCm39)	missense	probably damaging	1.00
R8363:Il1r2	UTSW	1	40,160,095 (GRCm39)	missense	probably damaging	1.00
R8470:Il1r2	UTSW	1	40,162,416 (GRCm39)	missense	probably damaging	1.00
R8520:Il1r2	UTSW	1	40,144,499 (GRCm39)	missense	probably damaging	1.00
R8871:Il1r2	UTSW	1	40,144,424 (GRCm39)	missense	probably benign	0.11
R9148:Il1r2	UTSW	1	40,151,258 (GRCm39)	missense	probably damaging	0.99
R9176:Il1r2	UTSW	1	40,144,478 (GRCm39)	missense	probably damaging	1.00
R9558:Il1r2	UTSW	1	40,162,422 (GRCm39)	missense	probably damaging	1.00
R9646:Il1r2	UTSW	1	40,162,362 (GRCm39)	missense	probably damaging	1.00
X0010:Il1r2	UTSW	1	40,157,141 (GRCm39)	missense	probably benign	0.16

Posted On

2012-12-21