Mutagenetix > Incidental Mutation

Incidental Mutation 'R9176:Il1r2'

696648

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9176 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40123872-40164390 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40144478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 55 (L55P)

Ref Sequence

ENSEMBL: ENSMUSP00000027243 (fasta)

Gene Model

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

AlphaFold

P27931

Predicted Effect

probably damaging
Transcript: ENSMUST00000027243
AA Change: L55P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027243
Gene: ENSMUSG00000026073
AA Change: L55P

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 damaging
Transcript: ENSMUST00000191671
AA Change: L55P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141882
Gene: ENSMUSG00000026073
AA Change: L55P

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

probably benign
Transcript: ENSMUST00000195770

Meta Mutation Damage Score

0.3712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	T	C	5: 146,121,004 (GRCm39)	D119G	probably damaging	Het
1700123K08Rik	T	C	5: 138,561,155 (GRCm39)	D169G	probably damaging	Het
Abcd2	T	G	15: 91,075,623 (GRCm39)	R63S	probably benign	Het
Ankrd55	T	C	13: 112,459,610 (GRCm39)	V68A	possibly damaging	Het
Avil	T	C	10: 126,852,248 (GRCm39)	Y678H	probably damaging	Het
Bltp1	T	A	3: 37,010,852 (GRCm39)	V1750E	possibly damaging	Het
Cd300ld2	C	A	11: 114,904,772 (GRCm39)	E32*	probably null	Het
Chuk	A	T	19: 44,076,442 (GRCm39)	L423Q	probably damaging	Het
Cisd3	A	G	11: 97,579,127 (GRCm39)	T90A	probably damaging	Het
Cmpk2	T	A	12: 26,524,027 (GRCm39)	S275T	probably benign	Het
Cntnap5c	T	A	17: 58,620,730 (GRCm39)	N936K	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Col4a4	G	T	1: 82,463,349 (GRCm39)	P1047Q	unknown	Het
Col6a4	A	G	9: 105,938,755 (GRCm39)	L1321P	probably damaging	Het
Crat	A	G	2: 30,297,892 (GRCm39)	F211L	probably damaging	Het
Csmd3	T	C	15: 47,864,937 (GRCm39)	Q27R		Het
Dapk1	T	C	13: 60,866,262 (GRCm39)	V205A	probably damaging	Het
Ddx20	T	C	3: 105,586,158 (GRCm39)	N729S	probably benign	Het
Derl2	A	G	11: 70,904,376 (GRCm39)	V139A	possibly damaging	Het
Dscam	C	T	16: 96,486,553 (GRCm39)	D1041N	probably benign	Het
Fbxo2	A	T	4: 148,250,147 (GRCm39)	R226W	probably damaging	Het
Fhip1b	A	C	7: 105,030,585 (GRCm39)	H180Q	probably benign	Het
Fhip2b	T	C	14: 70,826,540 (GRCm39)	K183E	probably benign	Het
Gpr19	A	G	6: 134,846,718 (GRCm39)	S322P	probably damaging	Het
Gvin2	T	C	7: 105,551,262 (GRCm39)	K597E	possibly damaging	Het
Herc6	A	G	6: 57,636,663 (GRCm39)	N793S	probably benign	Het
Ikbke	A	T	1: 131,191,025 (GRCm39)	S563T	probably benign	Het
Klhl8	C	A	5: 104,012,111 (GRCm39)	A575S	probably benign	Het
Lims1	T	G	10: 58,254,265 (GRCm39)	C340G	probably damaging	Het
Loxl3	G	A	6: 83,026,292 (GRCm39)	C460Y	probably damaging	Het
Mapk9	T	A	11: 49,763,565 (GRCm39)	L152*	probably null	Het
Mef2d	T	C	3: 88,066,463 (GRCm39)	V144A	possibly damaging	Het
Mertk	A	G	2: 128,620,892 (GRCm39)	D578G	possibly damaging	Het
Mettl1	C	A	10: 126,881,250 (GRCm39)	Q254K	probably benign	Het
Naip2	T	C	13: 100,298,707 (GRCm39)	E443G	probably damaging	Het
Ndor1	A	G	2: 25,138,241 (GRCm39)	F484L	probably damaging	Het
Neurl1b	C	T	17: 26,660,055 (GRCm39)	T425I	possibly damaging	Het
Nomo1	G	A	7: 45,730,828 (GRCm39)	V1104M	possibly damaging	Het
Or13a19	G	T	7: 139,903,121 (GRCm39)	G170C	probably damaging	Het
Or13p8	T	A	4: 118,583,850 (GRCm39)	Y135*	probably null	Het
Or4c10b	T	C	2: 89,711,515 (GRCm39)	V115A	probably benign	Het
Or5b95	A	G	19: 12,657,600 (GRCm39)	M43V	probably benign	Het
Or5p57	A	G	7: 107,665,246 (GRCm39)	V223A	probably benign	Het
Or8g20	T	A	9: 39,396,247 (GRCm39)	M98L	probably benign	Het
Or9i2	A	G	19: 13,815,796 (GRCm39)	V247A	probably damaging	Het
Parp4	A	G	14: 56,873,274 (GRCm39)	K1173E	possibly damaging	Het
Phkb	T	A	8: 86,697,623 (GRCm39)	N477K	probably damaging	Het
Plekha7	T	G	7: 115,739,926 (GRCm39)	I812L	possibly damaging	Het
Plxnb1	A	G	9: 108,941,651 (GRCm39)	T1711A	probably damaging	Het
Polg	A	G	7: 79,109,857 (GRCm39)	V382A	probably benign	Het
Pomt2	T	A	12: 87,194,451 (GRCm39)		probably benign	Het
Prdm1	T	C	10: 44,316,123 (GRCm39)	H671R	probably damaging	Het
Prkca	G	A	11: 107,870,244 (GRCm39)	R15C	possibly damaging	Het
Prkch	T	A	12: 73,746,968 (GRCm39)	N282K	probably damaging	Het
Ptpn6	T	C	6: 124,702,249 (GRCm39)	R385G	probably benign	Het
Rad21	A	T	15: 51,841,455 (GRCm39)	M87K	probably damaging	Het
Safb2	ACTTCTTCT	ACTTCT	17: 56,878,292 (GRCm39)		probably benign	Het
Scn1a	A	T	2: 66,103,689 (GRCm39)	V1857E	probably damaging	Het
Shprh	A	G	10: 11,036,320 (GRCm39)	T386A	probably benign	Het
Slco1b2	T	C	6: 141,598,229 (GRCm39)	L94P	probably damaging	Het
Snx29	A	G	16: 11,236,728 (GRCm39)	N90D	probably benign	Het
Stt3a	A	T	9: 36,662,592 (GRCm39)	H222Q	probably damaging	Het
Tbc1d5	T	C	17: 51,089,363 (GRCm39)	T584A	probably benign	Het
Tktl2	T	C	8: 66,964,664 (GRCm39)	V74A	probably damaging	Het
Tpp2	A	G	1: 44,031,553 (GRCm39)	N1124D	probably null	Het
Trpv1	A	T	11: 73,130,481 (GRCm39)	T196S	probably benign	Het
Ulk4	T	C	9: 120,974,128 (GRCm39)	E968G	probably benign	Het
Zbtb8a	G	T	4: 129,254,221 (GRCm39)	T91K	probably damaging	Het
Zfp317	T	A	9: 19,559,163 (GRCm39)	V459E	probably damaging	Het
Zfp790	A	G	7: 29,529,387 (GRCm39)	T691A	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTGAGACCATGCAGAATCTTG -3'
(R):5'- CCAAAGAGCCTTACCTGAATGTG -3'

Sequencing Primer
(F):5'- CTGAGACCATGCAGAATCTTGCTTAG -3'
(R):5'- TAGGTACCAGAGTCTTGCTGCAC -3'

Posted On

2022-02-07