Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01945:Il1r2'

181231

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Il1r2

Ensembl Gene

ENSMUSG00000026073

Gene Name

interleukin 1 receptor, type II

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01945

Quality Score

Status

Chromosome

Chromosomal Location

40123872-40164390 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40141613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 9 (T9A)

Ref Sequence

ENSEMBL: ENSMUSP00000141804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027243] [ENSMUST00000191671] [ENSMUST00000194913] [ENSMUST00000195770]

AlphaFold

P27931

Predicted Effect

probably benign
Transcript: ENSMUST00000027243
AA Change: T9A

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000027243
Gene: ENSMUSG00000026073
AA Change: T9A

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: ENSMUST00000191671
AA Change: T9A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000141882
Gene: ENSMUSG00000026073
AA Change: T9A

Domain	Start	End	E-Value	Type
IG	49	138	1e-10	SMART
Blast:IG	149	183	2e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000194913

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195770
AA Change: T9A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Coding Region Coverage

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	C	11: 109,974,130 (GRCm39)		probably benign	Het
Acta2	A	G	19: 34,229,254 (GRCm39)	V45A	probably benign	Het
Adam11	G	A	11: 102,663,736 (GRCm39)	V305M	probably damaging	Het
Adcy1	A	G	11: 7,111,891 (GRCm39)	K919E	probably damaging	Het
Afap1l1	T	C	18: 61,889,934 (GRCm39)	T101A	probably benign	Het
Apbb2	T	A	5: 66,557,594 (GRCm39)	D289V	probably damaging	Het
Appl1	A	G	14: 26,650,612 (GRCm39)	V520A	possibly damaging	Het
Atp5mc3	G	A	2: 73,741,313 (GRCm39)	R9C	probably benign	Het
Atp8a2	A	G	14: 60,263,609 (GRCm39)	L375P	probably damaging	Het
Cavin1	A	T	11: 100,861,246 (GRCm39)	F16Y	probably benign	Het
Ccdc185	C	A	1: 182,576,441 (GRCm39)	V83L	probably benign	Het
Ccdc80	T	A	16: 44,938,608 (GRCm39)	S772T	probably damaging	Het
Cntn4	T	A	6: 106,414,865 (GRCm39)	V132E	probably damaging	Het
Coa5	A	T	1: 37,468,979 (GRCm39)	C24S	probably damaging	Het
Col6a5	A	T	9: 105,805,489 (GRCm39)	V1139D	unknown	Het
Ddx46	C	A	13: 55,802,885 (GRCm39)	S469*	probably null	Het
Ep300	A	G	15: 81,500,310 (GRCm39)		probably benign	Het
Fcna	A	T	2: 25,517,847 (GRCm39)	M1K	probably null	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gstm3	T	C	3: 107,874,973 (GRCm39)	E93G	probably damaging	Het
Gtse1	A	G	15: 85,755,748 (GRCm39)	T471A	probably benign	Het
Hepacam2	T	A	6: 3,487,117 (GRCm39)	Y4F	probably benign	Het
Hipk1	T	C	3: 103,651,320 (GRCm39)	I1148V	possibly damaging	Het
Kl	A	T	5: 150,912,402 (GRCm39)	D717V	probably damaging	Het
Krt75	G	A	15: 101,478,599 (GRCm39)	T345M	possibly damaging	Het
Myo5a	T	A	9: 75,047,953 (GRCm39)	H260Q	probably damaging	Het
Nckap1l	G	A	15: 103,370,069 (GRCm39)	G156D	probably damaging	Het
Nlrp1b	T	G	11: 71,072,233 (GRCm39)	T537P	probably damaging	Het
Nudt17	A	G	3: 96,614,355 (GRCm39)	I201T	probably damaging	Het
Or5k3	T	C	16: 58,969,827 (GRCm39)	S205P	probably benign	Het
Or6c8	A	T	10: 128,915,172 (GRCm39)	I220N	probably damaging	Het
Or7g27	A	T	9: 19,250,628 (GRCm39)	S291C	probably damaging	Het
Padi6	T	C	4: 140,469,235 (GRCm39)	D35G	probably benign	Het
Plcb1	A	T	2: 135,062,711 (GRCm39)	Y107F	probably benign	Het
Plek2	T	A	12: 78,938,922 (GRCm39)	H279L	probably damaging	Het
Plk2	A	G	13: 110,535,588 (GRCm39)	D470G	possibly damaging	Het
Ranbp17	T	C	11: 33,278,520 (GRCm39)	T116A	possibly damaging	Het
Rbck1	G	A	2: 152,160,236 (GRCm39)	P481L	probably damaging	Het
Reps1	A	G	10: 17,969,584 (GRCm39)	N229S	probably benign	Het
Rngtt	T	C	4: 33,339,073 (GRCm39)	W293R	probably damaging	Het
Robo1	A	T	16: 72,759,114 (GRCm39)	I376F	probably damaging	Het
Ryr2	T	A	13: 11,805,249 (GRCm39)	I872F	probably damaging	Het
Sgip1	T	C	4: 102,823,439 (GRCm39)	Y707H	probably damaging	Het
Slc17a5	G	T	9: 78,495,214 (GRCm39)	D12E	probably benign	Het
Slco1a5	T	A	6: 142,189,715 (GRCm39)		probably null	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Strap	A	G	6: 137,718,333 (GRCm39)	I146V	probably benign	Het
Tcim	A	T	8: 24,928,892 (GRCm39)	H7Q	probably benign	Het
Tgfbr3	A	G	5: 107,269,224 (GRCm39)		probably null	Het
Thada	G	T	17: 84,530,194 (GRCm39)	T1725N	probably benign	Het
Trhr	T	C	15: 44,060,540 (GRCm39)	V20A	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wnt5a	A	G	14: 28,240,519 (GRCm39)	N223S	probably damaging	Het

Other mutations in Il1r2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2014-05-07