Mutagenetix > Incidental Mutation

Incidental Mutation 'R0454:Il1rap'

39923

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

038654-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0454 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26400454-26548867 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 26517625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 275 (D275A)

Ref Sequence

ENSEMBL: ENSMUSP00000133904 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023156] [ENSMUST00000096129] [ENSMUST00000166294] [ENSMUST00000174171] [ENSMUST00000174202]

AlphaFold

Q61730

Predicted Effect

probably damaging
Transcript: ENSMUST00000023156
AA Change: D275A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023156
Gene: ENSMUSG00000022514
AA Change: D275A

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	549	5.29e-36	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000096129
AA Change: D275A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000093843
Gene: ENSMUSG00000022514
AA Change: D275A

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 damaging
Transcript: ENSMUST00000166294
AA Change: D275A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128100
Gene: ENSMUSG00000022514
AA Change: D275A

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 damaging
Transcript: ENSMUST00000174171
AA Change: D275A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133904
Gene: ENSMUSG00000022514
AA Change: D275A

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
Blast:IG	251	312	1e-28	BLAST
low complexity region	316	332	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000174202
AA Change: D275A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134202
Gene: ENSMUSG00000022514
AA Change: D275A

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.8%

Validation Efficiency

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447F04Rik	T	C	X: 65,347,274 (GRCm39)	E91G	unknown	Het
Acot1	A	G	12: 84,064,113 (GRCm39)	Q407R	probably benign	Het
Adcy10	T	A	1: 165,398,297 (GRCm39)	Y1465N	probably damaging	Het
Ahsa2	T	A	11: 23,440,702 (GRCm39)	I249F	probably damaging	Het
Arhgap10	T	C	8: 77,977,594 (GRCm39)	N721S	probably damaging	Het
Arrdc4	T	G	7: 68,391,619 (GRCm39)	E216A	probably damaging	Het
Axin1	T	C	17: 26,392,637 (GRCm39)	V306A	probably benign	Het
Cct3	T	C	3: 88,210,173 (GRCm39)		probably null	Het
Cfap58	G	A	19: 47,963,119 (GRCm39)		probably null	Het
Chd9	T	C	8: 91,699,859 (GRCm39)	S49P	possibly damaging	Het
Clcn2	C	A	16: 20,529,178 (GRCm39)		probably null	Het
Col26a1	T	C	5: 136,783,047 (GRCm39)	N286D	probably benign	Het
Cpt1b	T	A	15: 89,308,596 (GRCm39)	I111F	possibly damaging	Het
Cyp4f16	T	A	17: 32,756,061 (GRCm39)	I30N	probably damaging	Het
Ddc	T	G	11: 11,830,587 (GRCm39)	D19A	possibly damaging	Het
Depdc1a	T	A	3: 159,222,537 (GRCm39)		probably null	Het
Evc2	T	A	5: 37,574,828 (GRCm39)	C1028S	possibly damaging	Het
Fam228a	T	C	12: 4,781,457 (GRCm39)	E134G	probably damaging	Het
Fasl	T	C	1: 161,615,523 (GRCm39)	E111G	probably benign	Het
Fbxw10	A	G	11: 62,767,564 (GRCm39)	N800S	possibly damaging	Het
Fras1	T	C	5: 96,910,524 (GRCm39)	S3318P	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gad1	T	A	2: 70,409,545 (GRCm39)	M212K	probably damaging	Het
Gm17455	T	G	10: 60,238,752 (GRCm39)	S6A	probably benign	Het
Grm5	T	C	7: 87,779,997 (GRCm39)	S1146P	probably damaging	Het
Gsn	T	C	2: 35,194,651 (GRCm39)	L649P	probably damaging	Het
H2-DMb1	A	G	17: 34,374,685 (GRCm39)	T112A	probably benign	Het
Hcn3	T	A	3: 89,060,201 (GRCm39)	I148F	probably damaging	Het
Hdac10	T	C	15: 89,009,961 (GRCm39)		probably null	Het
Hk3	C	A	13: 55,156,518 (GRCm39)	D619Y	probably damaging	Het
Ifi44	T	A	3: 151,451,134 (GRCm39)	R272S	possibly damaging	Het
Irag2	A	G	6: 145,113,710 (GRCm39)	R293G	possibly damaging	Het
Itgam	A	T	7: 127,707,152 (GRCm39)	N660I	probably benign	Het
Itpr3	T	C	17: 27,332,793 (GRCm39)	M1853T	probably benign	Het
Lrrc8c	A	C	5: 105,754,965 (GRCm39)	K247Q	probably damaging	Het
Map3k21	T	C	8: 126,668,858 (GRCm39)	S815P	probably benign	Het
Mast4	A	G	13: 102,888,068 (GRCm39)	S1114P	probably damaging	Het
Myh8	C	T	11: 67,194,591 (GRCm39)	Q1601*	probably null	Het
Nhlrc2	A	G	19: 56,558,959 (GRCm39)	D148G	probably damaging	Het
Nos1	T	A	5: 118,081,385 (GRCm39)	S1196T	probably benign	Het
Nsmaf	C	T	4: 6,424,874 (GRCm39)		probably null	Het
Obscn	T	C	11: 58,890,449 (GRCm39)	D7361G	unknown	Het
Or2t35	T	C	14: 14,407,777 (GRCm38)	V183A	probably damaging	Het
Or52ad1	C	A	7: 102,996,085 (GRCm39)	A17S	probably benign	Het
Or5bw2	C	T	7: 6,573,359 (GRCm39)	A123V	probably damaging	Het
Pank3	T	G	11: 35,668,536 (GRCm39)	M175R	probably benign	Het
Papolg	A	G	11: 23,829,868 (GRCm39)		probably null	Het
Pcdhb21	G	A	18: 37,647,566 (GRCm39)	D232N	probably damaging	Het
Pcdhb22	T	C	18: 37,651,925 (GRCm39)	F131S	probably damaging	Het
Pik3r6	G	A	11: 68,419,608 (GRCm39)	A140T	possibly damaging	Het
Pinlyp	T	C	7: 24,241,947 (GRCm39)	T87A	possibly damaging	Het
Pld1	T	C	3: 28,178,724 (GRCm39)	S873P	probably damaging	Het
Pld5	T	A	1: 176,102,295 (GRCm39)	Y49F	probably benign	Het
Polq	T	C	16: 36,855,252 (GRCm39)	V449A	probably damaging	Het
Prkca	A	G	11: 107,869,106 (GRCm39)	V69A	probably benign	Het
Ptk6	A	G	2: 180,844,075 (GRCm39)	S75P	possibly damaging	Het
Ptprq	G	A	10: 107,418,391 (GRCm39)	Q1662*	probably null	Het
Ptprt	C	A	2: 161,395,742 (GRCm39)	A1144S	probably damaging	Het
Rrm1	T	A	7: 102,116,133 (GRCm39)	W684R	probably damaging	Het
Ryr1	T	A	7: 28,735,500 (GRCm39)	M4093L	probably damaging	Het
Scnn1a	C	T	6: 125,299,189 (GRCm39)	L90F	probably damaging	Het
Slc25a19	G	T	11: 115,508,423 (GRCm39)	Y188*	probably null	Het
Slc31a1	C	T	4: 62,303,866 (GRCm39)		probably benign	Het
Slc5a11	C	G	7: 122,864,458 (GRCm39)	S351R	possibly damaging	Het
Slc6a17	A	G	3: 107,384,183 (GRCm39)	L387P	probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Spam1	T	A	6: 24,797,837 (GRCm39)	L331Q	probably damaging	Het
Spata32	A	G	11: 103,100,125 (GRCm39)	W127R	probably damaging	Het
Spring1	A	G	5: 118,393,886 (GRCm39)	E88G	possibly damaging	Het
Spta1	T	G	1: 174,041,508 (GRCm39)	I1324S	probably damaging	Het
St6galnac4	A	G	2: 32,484,330 (GRCm39)	Y176C	probably damaging	Het
Stk10	A	G	11: 32,546,724 (GRCm39)	E327G	probably damaging	Het
Stxbp5l	T	A	16: 36,954,646 (GRCm39)	Y912F	possibly damaging	Het
Tchp	G	A	5: 114,858,243 (GRCm39)	E459K	probably benign	Het
Terf2	C	T	8: 107,822,842 (GRCm39)	W100*	probably null	Het
Thoc2l	T	G	5: 104,666,077 (GRCm39)	S200A	probably benign	Het
Thrsp	T	C	7: 97,066,634 (GRCm39)	N26S	probably damaging	Het
Tln1	C	A	4: 43,553,504 (GRCm39)	R297L	probably benign	Het
Tmeff2	C	A	1: 50,967,234 (GRCm39)	T43N	possibly damaging	Het
Tmx1	C	T	12: 70,499,947 (GRCm39)	A2V	possibly damaging	Het
Tnks1bp1	T	A	2: 84,902,481 (GRCm39)	L1053Q	probably damaging	Het
Trmt10b	A	T	4: 45,304,286 (GRCm39)	K107N	probably damaging	Het
Trpa1	A	T	1: 14,955,972 (GRCm39)		probably null	Het
Trrap	A	G	5: 144,783,287 (GRCm39)	K3371R	probably damaging	Het
Tuba3b	G	A	6: 145,563,995 (GRCm39)	V14I	probably benign	Het
Usp19	T	C	9: 108,371,439 (GRCm39)		probably null	Het
Usp28	C	A	9: 48,950,401 (GRCm39)	D615E	possibly damaging	Het
Utp20	T	C	10: 88,657,931 (GRCm39)	D43G	probably benign	Het
Vmn1r58	T	G	7: 5,413,997 (GRCm39)	K78Q	possibly damaging	Het
Vmn2r10	T	C	5: 109,151,327 (GRCm39)	M96V	probably benign	Het
Wdr90	T	C	17: 26,079,023 (GRCm39)	E273G	probably damaging	Het
Xpc	C	T	6: 91,468,208 (GRCm39)	A860T	probably benign	Het
Zscan21	T	C	5: 138,131,865 (GRCm39)	I463T	possibly 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
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
R4755:Il1rap	UTSW	16	26,541,532 (GRCm39)	missense	probably benign	0.20
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'- GGACAAGGACCCACCATTTACAGAC -3'
(R):5'- GCACTTGCCTTGCTAGTTTAATGACCC -3'

Sequencing Primer
(F):5'- agaaagaaagaaagagagagagagag -3'
(R):5'- GCCCCTGAAGGTTGAAAAATCTTG -3'

Posted On

2013-05-23