Mutagenetix > Incidental Mutation

Incidental Mutation 'R4755:Il1rap'

357967

Institutional Source

Beutler Lab

Gene Symbol

Il1rap

Ensembl Gene

ENSMUSG00000022514

Gene Name

interleukin 1 receptor accessory protein

Synonyms

IL-1RAcP, 6430709H04Rik, IL-1R AcP

MMRRC Submission

042033-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4755 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26400454-26548867 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 26541532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 591 (A591E)

Ref Sequence

ENSEMBL: ENSMUSP00000093843 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096129] [ENSMUST00000166294]

AlphaFold

Q61730

Predicted Effect

probably benign
Transcript: ENSMUST00000096129
AA Change: A591E

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000093843
Gene: ENSMUSG00000022514
AA Change: A591E

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IG	32	132	1.21e-2	SMART
IG	145	232	4.04e0	SMART
IG	251	350	1.46e-5	SMART
low complexity region	368	381	N/A	INTRINSIC
TIR	404	547	1.38e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166294
AA Change: A591E

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000128100
Gene: ENSMUSG00000022514
AA Change: A591E

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IG	32	132	1.21e-2	SMART
IG	145	232	4.04e0	SMART
IG	251	350	1.46e-5	SMART
low complexity region	368	381	N/A	INTRINSIC
TIR	404	547	1.38e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172522

Predicted Effect

unknown
Transcript: ENSMUST00000173136
AA Change: A116E

SMART Domains

Protein: ENSMUSP00000133294
Gene: ENSMUSG00000022514
AA Change: A116E

Domain	Start	End	E-Value	Type
Blast:TIR	2	154	3e-48	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174644

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (112/117)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Interleukin 1 induces synthesis of acute phase and proinflammatory proteins during infection, tissue damage, or stress, by forming a complex at the cell membrane with an interleukin 1 receptor and an accessory protein. This gene encodes the interleukin 1 receptor accessory protein. The protein is a necessary part of the interleukin 1 receptor complex which initiates signalling events that result in the activation of interleukin 1-responsive genes. Alternative splicing of this gene results in two transcript variants encoding two different isoforms, one membrane-bound and one soluble. The ratio of soluble to membrane-bound forms increases during acute-phase induction or stress. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and grossly normal but show no biological response to IL-1. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	T	A	3: 59,733,280 (GRCm39)		noncoding transcript	Het
Aadacl2fm1	C	T	3: 59,843,735 (GRCm39)	A143V	probably benign	Het
Accs	T	C	2: 93,671,682 (GRCm39)	E236G	probably damaging	Het
Agrn	C	T	4: 156,257,979 (GRCm39)		probably benign	Het
Ahi1	A	G	10: 20,930,946 (GRCm39)	I929V	possibly damaging	Het
Akap5	C	A	12: 76,374,581 (GRCm39)	C4*	probably null	Het
Amotl2	A	T	9: 102,597,679 (GRCm39)	H146L	probably damaging	Het
Ank1	A	G	8: 23,594,990 (GRCm39)	N666S	probably damaging	Het
Atp10d	A	T	5: 72,403,509 (GRCm39)	T373S	probably benign	Het
Bpifb9b	T	A	2: 154,161,614 (GRCm39)	M582K	probably benign	Het
Brca2	T	A	5: 150,483,452 (GRCm39)		probably null	Het
Ccdc149	A	G	5: 52,561,493 (GRCm39)	V229A	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdk5rap2	A	G	4: 70,156,662 (GRCm39)	S1617P	probably damaging	Het
Cenpk	A	T	13: 104,367,379 (GRCm39)	M37L	probably benign	Het
Cenpk	A	T	13: 104,386,020 (GRCm39)	H305L	probably benign	Het
Ces5a	C	A	8: 94,262,305 (GRCm39)	A11S	probably benign	Het
Cfap65	T	C	1: 74,967,520 (GRCm39)	E186G	probably damaging	Het
Cfh	T	A	1: 140,016,546 (GRCm39)	I593F	probably damaging	Het
Clstn2	C	T	9: 97,327,726 (GRCm39)	V961I	probably benign	Het
Cog5	T	A	12: 31,919,405 (GRCm39)		probably null	Het
Col4a4	T	C	1: 82,518,895 (GRCm39)	D100G	unknown	Het
Cyp3a41a	T	C	5: 145,652,316 (GRCm39)	D61G	probably damaging	Het
Dnah10	A	G	5: 124,824,809 (GRCm39)	N655S	probably benign	Het
Dnai1	C	G	4: 41,610,269 (GRCm39)	T295R	probably damaging	Het
Dnajc6	C	T	4: 101,407,996 (GRCm39)	A44V	probably damaging	Het
Eif4enif1	A	T	11: 3,194,016 (GRCm39)	D960V	probably damaging	Het
Fam167b	C	T	4: 129,472,135 (GRCm39)	G12R	probably damaging	Het
Fam20b	A	T	1: 156,515,066 (GRCm39)	Y266*	probably null	Het
Fer1l6	T	A	15: 58,512,060 (GRCm39)	V1509D	probably benign	Het
Fhad1	A	T	4: 141,655,794 (GRCm39)	I105N	probably damaging	Het
Fmo2	T	C	1: 162,716,374 (GRCm39)	D71G	probably damaging	Het
Folr2	T	C	7: 101,493,006 (GRCm39)	T6A	possibly damaging	Het
Fry	A	C	5: 150,321,719 (GRCm39)	E1018A	probably damaging	Het
Gas2l2	A	G	11: 83,320,193 (GRCm39)	I21T	probably damaging	Het
Gfra1	T	C	19: 58,441,676 (GRCm39)	Y85C	probably damaging	Het
Gpld1	A	T	13: 25,163,671 (GRCm39)	Y43F	probably benign	Het
Gpld1	T	A	13: 25,163,675 (GRCm39)	Y44*	probably null	Het
Grid2	A	G	6: 63,885,972 (GRCm39)	T123A	probably benign	Het
Grina	T	C	15: 76,133,442 (GRCm39)	L305P	probably damaging	Het
Gucy1a1	G	A	3: 82,002,102 (GRCm39)	A659V	probably benign	Het
H2-T10	T	A	17: 36,429,837 (GRCm39)	K319*	probably null	Het
Hey2	A	T	10: 30,710,300 (GRCm39)	V151E	probably benign	Het
Ighv1-69	G	A	12: 115,587,178 (GRCm39)	T13I	probably benign	Het
Ildr1	T	C	16: 36,542,383 (GRCm39)	L261P	probably benign	Het
Jak1	A	G	4: 101,031,354 (GRCm39)	Y463H	probably damaging	Het
Lrp1b	T	C	2: 41,159,285 (GRCm39)	I1666V	probably benign	Het
Lrp1b	T	A	2: 41,361,028 (GRCm39)	T592S	probably benign	Het
Lrrc36	A	G	8: 106,178,776 (GRCm39)	T445A	possibly damaging	Het
Ly9	G	A	1: 171,434,806 (GRCm39)	S29F	probably damaging	Het
Mapk7	A	C	11: 61,381,669 (GRCm39)	C32W	probably damaging	Het
Marchf10	C	T	11: 105,255,302 (GRCm39)		probably benign	Het
Mier2	A	T	10: 79,385,031 (GRCm39)	M119K	probably damaging	Het
Mpv17	A	T	5: 31,303,326 (GRCm39)	C59*	probably null	Het
Mrpl27	G	A	11: 94,544,659 (GRCm39)		probably benign	Het
Myo18b	G	A	5: 113,022,340 (GRCm39)	Q351*	probably null	Het
Myo1a	A	G	10: 127,551,557 (GRCm39)	I704M	probably damaging	Het
Nadsyn1	A	G	7: 143,360,650 (GRCm39)	C373R	probably damaging	Het
Nckipsd	C	A	9: 108,691,938 (GRCm39)	A513E	probably benign	Het
Neb	T	C	2: 52,110,221 (GRCm39)	D209G	probably damaging	Het
Nkapl	T	A	13: 21,652,457 (GRCm39)	Q52L	unknown	Het
Nptx2	G	A	5: 144,483,250 (GRCm39)	S126N	probably benign	Het
Or2a7	G	A	6: 43,150,977 (GRCm39)	S19N	probably benign	Het
Or52d3	T	A	7: 104,229,268 (GRCm39)	Y138*	probably null	Het
Or7g17	A	T	9: 18,768,476 (GRCm39)	H185L	probably benign	Het
Or8b52	A	G	9: 38,577,128 (GRCm39)	V4A	probably benign	Het
Pclo	A	T	5: 14,764,362 (GRCm39)	R4278S	unknown	Het
Pcnx1	T	G	12: 81,997,068 (GRCm39)	L988R	probably damaging	Het
Prl2c5	C	A	13: 13,363,970 (GRCm39)	N75K	probably benign	Het
Prpf19	T	G	19: 10,875,154 (GRCm39)		probably benign	Het
Ralgapa1	A	G	12: 55,759,533 (GRCm39)	S997P	probably damaging	Het
Rangap1	T	C	15: 81,597,118 (GRCm39)	T226A	probably benign	Het
Rimklb	G	A	6: 122,433,365 (GRCm39)	L262F	probably damaging	Het
Rnf169	A	G	7: 99,574,930 (GRCm39)	M555T	probably benign	Het
Rp1l1	A	T	14: 64,267,519 (GRCm39)	D1035V	probably benign	Het
Rps23rg1	A	T	8: 3,633,922 (GRCm39)	S8C	probably damaging	Het
Scd2	T	A	19: 44,289,791 (GRCm39)	L262Q	probably damaging	Het
Scgb2b12	T	A	7: 32,024,956 (GRCm39)	M84L	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sipa1l1	G	A	12: 82,419,160 (GRCm39)	V613I	possibly damaging	Het
Slc25a23	T	A	17: 57,359,794 (GRCm39)	D67V	possibly damaging	Het
Slc25a39	C	T	11: 102,297,492 (GRCm39)		probably benign	Het
Slc4a10	T	A	2: 62,127,332 (GRCm39)	F895Y	probably damaging	Het
Slc5a4a	A	C	10: 76,022,398 (GRCm39)	K578Q	probably benign	Het
Slc6a13	G	A	6: 121,302,008 (GRCm39)	G197S	probably damaging	Het
Smarca2	A	T	19: 26,631,883 (GRCm39)	E566V	possibly damaging	Het
Sorbs3	A	T	14: 70,421,548 (GRCm39)	N594K	probably benign	Het
Spata22	A	T	11: 73,236,582 (GRCm39)	D296V	probably damaging	Het
Sphk2	G	A	7: 45,363,058 (GRCm39)	A11V	possibly damaging	Het
Spp1	A	T	5: 104,583,081 (GRCm39)		probably benign	Het
Strn3	T	A	12: 51,656,999 (GRCm39)	I760L	possibly damaging	Het
Syk	A	T	13: 52,796,022 (GRCm39)	Y539F	probably benign	Het
Tdpoz9-ps1	T	C	3: 93,846,093 (GRCm39)		probably null	Het
Thsd7b	T	A	1: 130,138,001 (GRCm39)	Y1560N	probably benign	Het
Tmod2	C	A	9: 75,504,494 (GRCm39)	E42*	probably null	Het
Tom1l1	T	C	11: 90,575,942 (GRCm39)	E30G	probably damaging	Het
Trav10	G	A	14: 53,743,518 (GRCm39)	A40T	probably benign	Het
Trav14-2	G	A	14: 53,878,237 (GRCm39)		probably benign	Het
Tril	T	A	6: 53,795,449 (GRCm39)	E591V	probably damaging	Het
Trp53bp1	T	A	2: 121,059,087 (GRCm39)	R179*	probably null	Het
Tspoap1	A	T	11: 87,662,489 (GRCm39)	D562V	possibly damaging	Het
Usp44	A	T	10: 93,682,768 (GRCm39)	H406L	probably damaging	Het
Vangl1	A	G	3: 102,065,608 (GRCm39)	I509T	probably benign	Het
Vax2	T	G	6: 83,688,379 (GRCm39)	L34W	probably damaging	Het
Vmn1r55	A	T	7: 5,150,025 (GRCm39)	C133S	probably damaging	Het
Vmn2r8	T	A	5: 108,949,566 (GRCm39)	D427V	probably benign	Het
Vwde	A	G	6: 13,205,851 (GRCm39)	I232T	possibly damaging	Het
Wnk1	C	A	6: 119,940,431 (GRCm39)	A769S	probably damaging	Het
Xpo4	A	C	14: 57,855,638 (GRCm39)	S264A	probably benign	Het
Zfp330	A	T	8: 83,496,015 (GRCm39)	C75*	probably null	Het
Zfp526	T	A	7: 24,925,064 (GRCm39)	L441Q	probably benign	Het
Zfp607b	T	G	7: 27,402,930 (GRCm39)	L462R	probably damaging	Het
Zfp719	T	A	7: 43,240,217 (GRCm39)	F602I	probably damaging	Het

Other mutations in Il1rap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Il1rap	APN	16	26,541,151 (GRCm39)	missense	possibly damaging	0.77
IGL00976:Il1rap	APN	16	26,517,589 (GRCm39)	missense	probably benign	0.09
IGL01075:Il1rap	APN	16	26,498,987 (GRCm39)	missense	possibly damaging	0.94
IGL01665:Il1rap	APN	16	26,541,463 (GRCm39)	missense	probably damaging	1.00
IGL01962:Il1rap	APN	16	26,529,318 (GRCm39)	nonsense	probably null
IGL02101:Il1rap	APN	16	26,442,932 (GRCm39)	missense	possibly damaging	0.61
IGL02411:Il1rap	APN	16	26,529,366 (GRCm39)	missense	probably damaging	1.00
IGL03132:Il1rap	APN	16	26,498,869 (GRCm39)	missense	probably damaging	1.00
bacchus	UTSW	16	26,529,382 (GRCm39)	critical splice donor site	probably null
I1329:Il1rap	UTSW	16	26,511,600 (GRCm39)	missense	probably benign	0.07
LCD18:Il1rap	UTSW	16	26,450,343 (GRCm39)	intron	probably benign
PIT1430001:Il1rap	UTSW	16	26,529,343 (GRCm39)	missense	possibly damaging	0.53
R0302:Il1rap	UTSW	16	26,511,544 (GRCm39)	missense	probably benign	0.02
R0454:Il1rap	UTSW	16	26,517,625 (GRCm39)	missense	probably damaging	1.00
R0481:Il1rap	UTSW	16	26,511,585 (GRCm39)	missense	probably damaging	1.00
R0612:Il1rap	UTSW	16	26,519,855 (GRCm39)	missense	possibly damaging	0.48
R0765:Il1rap	UTSW	16	26,529,382 (GRCm39)	critical splice donor site	probably null
R1552:Il1rap	UTSW	16	26,541,184 (GRCm39)	missense	possibly damaging	0.79
R1801:Il1rap	UTSW	16	26,517,625 (GRCm39)	missense	probably damaging	1.00
R1867:Il1rap	UTSW	16	26,541,676 (GRCm39)	missense	probably damaging	1.00
R1942:Il1rap	UTSW	16	26,541,205 (GRCm39)	missense	probably damaging	1.00
R1996:Il1rap	UTSW	16	26,541,243 (GRCm39)	missense	probably benign	0.06
R2118:Il1rap	UTSW	16	26,529,315 (GRCm39)	missense	probably damaging	1.00
R2122:Il1rap	UTSW	16	26,529,315 (GRCm39)	missense	probably damaging	1.00
R2124:Il1rap	UTSW	16	26,529,315 (GRCm39)	missense	probably damaging	1.00
R3104:Il1rap	UTSW	16	26,541,502 (GRCm39)	missense	probably benign	0.01
R3105:Il1rap	UTSW	16	26,541,502 (GRCm39)	missense	probably benign	0.01
R3106:Il1rap	UTSW	16	26,541,502 (GRCm39)	missense	probably benign	0.01
R3891:Il1rap	UTSW	16	26,495,606 (GRCm39)	missense	probably damaging	1.00
R4133:Il1rap	UTSW	16	26,541,636 (GRCm39)	missense	probably benign	0.34
R4409:Il1rap	UTSW	16	26,531,015 (GRCm39)	splice site	probably null
R4610:Il1rap	UTSW	16	26,533,526 (GRCm39)	missense	probably benign	0.11
R4776:Il1rap	UTSW	16	26,511,549 (GRCm39)	missense	possibly damaging	0.57
R4793:Il1rap	UTSW	16	26,513,984 (GRCm39)	missense	probably benign	0.09
R4811:Il1rap	UTSW	16	26,519,988 (GRCm39)	critical splice donor site	probably null
R4834:Il1rap	UTSW	16	26,495,685 (GRCm39)	missense	probably damaging	1.00
R5119:Il1rap	UTSW	16	26,442,949 (GRCm39)	missense	probably benign	0.01
R5744:Il1rap	UTSW	16	26,498,974 (GRCm39)	missense	probably benign	0.01
R6108:Il1rap	UTSW	16	26,541,457 (GRCm39)	missense	probably damaging	1.00
R6149:Il1rap	UTSW	16	26,530,969 (GRCm39)	missense	probably damaging	1.00
R6233:Il1rap	UTSW	16	26,529,256 (GRCm39)	missense	probably benign	0.24
R6246:Il1rap	UTSW	16	26,533,631 (GRCm39)	missense	probably benign
R6249:Il1rap	UTSW	16	26,511,598 (GRCm39)	missense	possibly damaging	0.88
R6254:Il1rap	UTSW	16	26,514,020 (GRCm39)	missense	probably benign
R6748:Il1rap	UTSW	16	26,541,106 (GRCm39)	missense	probably benign	0.02
R7151:Il1rap	UTSW	16	26,530,878 (GRCm39)	missense	probably damaging	1.00
R7794:Il1rap	UTSW	16	26,541,658 (GRCm39)	missense	probably benign
R7818:Il1rap	UTSW	16	26,517,597 (GRCm39)	missense	probably damaging	1.00
R7819:Il1rap	UTSW	16	26,541,151 (GRCm39)	missense	possibly damaging	0.77
R7863:Il1rap	UTSW	16	26,495,461 (GRCm39)	missense	probably damaging	1.00
R8240:Il1rap	UTSW	16	26,520,001 (GRCm39)	missense	probably benign
R8559:Il1rap	UTSW	16	26,530,884 (GRCm39)	missense	probably benign	0.29
R8934:Il1rap	UTSW	16	26,495,734 (GRCm39)	missense	probably damaging	1.00
R8986:Il1rap	UTSW	16	26,533,696 (GRCm39)	missense	probably damaging	1.00
R9261:Il1rap	UTSW	16	26,541,724 (GRCm39)	missense	possibly damaging	0.83
R9286:Il1rap	UTSW	16	26,517,604 (GRCm39)	missense	possibly damaging	0.89
R9326:Il1rap	UTSW	16	26,495,641 (GRCm39)	missense	probably damaging	1.00
R9408:Il1rap	UTSW	16	26,533,675 (GRCm39)	missense	possibly damaging	0.91
R9493:Il1rap	UTSW	16	26,541,702 (GRCm39)	missense	probably benign	0.00
R9723:Il1rap	UTSW	16	26,442,907 (GRCm39)	start codon destroyed	probably null	0.97
X0027:Il1rap	UTSW	16	26,519,897 (GRCm39)	missense	probably benign	0.20
X0028:Il1rap	UTSW	16	26,495,714 (GRCm39)	missense	probably damaging	1.00
Z1176:Il1rap	UTSW	16	26,541,149 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCTGAAGGAGTCTGTGTC -3'
(R):5'- CTCTTGGAGAGGAGGCTTACAG -3'

Sequencing Primer
(F):5'- AAACATTCTGGCTCCAAGTTCTG -3'
(R):5'- ACAGAGGTGTGTTTCCCAC -3'

Posted On

2015-11-11