Mutagenetix > Incidental Mutation

Incidental Mutation 'R0200:Il1rl1'

60775

Institutional Source

Beutler Lab

Gene Symbol

Il1rl1

Ensembl Gene

ENSMUSG00000026069

Gene Name

interleukin 1 receptor-like 1

Synonyms

DER4, Ly84, St2-rs1, St2, T1/ST2, ST2L, ST2, Fit-1, T1, T1 gene

MMRRC Submission

038457-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0200 (G1)

Quality Score

154

Status

Not validated

Chromosome

Chromosomal Location

40468730-40504575 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40480463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 31 (W31R)

Ref Sequence

ENSEMBL: ENSMUSP00000134351 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053043] [ENSMUST00000097772] [ENSMUST00000173514] [ENSMUST00000173881] [ENSMUST00000174335]

AlphaFold

P14719

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053043
AA Change: W31R

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054914
Gene: ENSMUSG00000026069
AA Change: W31R

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
IGc2	33	100	7.35e-11	SMART
IGc2	130	194	8.85e-5	SMART
IG_like	225	326	2.66e1	SMART
transmembrane domain	333	355	N/A	INTRINSIC
TIR	381	543	4.23e-35	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097772
AA Change: W31R

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095379
Gene: ENSMUSG00000026069
AA Change: W31R

Domain	Start	End	E-Value	Type
IGc2	33	100	7.35e-11	SMART
IGc2	130	194	8.85e-5	SMART
IG_like	225	326	2.66e1	SMART
transmembrane domain	333	355	N/A	INTRINSIC
TIR	381	543	4.23e-35	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173514
AA Change: W31R

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133784
Gene: ENSMUSG00000026069
AA Change: W31R

Domain	Start	End	E-Value	Type
IGc2	33	100	7.35e-11	SMART
IGc2	130	194	8.85e-5	SMART
IG_like	225	326	2.66e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173881
AA Change: W31R

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134225
Gene: ENSMUSG00000026069
AA Change: W31R

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
PDB:4KC3\|B	27	65	4e-16	PDB
Blast:IGc2	33	65	2e-17	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174335
AA Change: W31R

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134351
Gene: ENSMUSG00000026069
AA Change: W31R

Domain	Start	End	E-Value	Type
IGc2	33	100	7.35e-11	SMART
IGc2	130	194	8.85e-5	SMART
IG_like	225	326	2.66e1	SMART

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.7%
20x: 86.2%

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 member of the interleukin 1 receptor family. Studies of the similar gene in mouse suggested that this receptor can be induced by proinflammatory stimuli, and may be involved in the function of helper T cells. This gene, interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2) and interleukin 1 receptor-like 2 (IL1RL2) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display an abnormal Th2 type inflammatory response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	T	C	11: 84,336,502 (GRCm39)	K466E	probably damaging	Het
Abcc3	T	C	11: 94,245,900 (GRCm39)	D1245G	probably damaging	Het
Adam12	T	C	7: 133,576,145 (GRCm39)		probably null	Het
Akap11	A	G	14: 78,748,193 (GRCm39)	V1398A	probably benign	Het
Ank1	T	G	8: 23,586,828 (GRCm39)	L461R	probably damaging	Het
Ankfn1	T	C	11: 89,332,792 (GRCm39)	S402G	possibly damaging	Het
Arhgef40	A	C	14: 52,234,431 (GRCm39)	E911D	probably damaging	Het
Atp2b1	C	T	10: 98,815,676 (GRCm39)	Q107*	probably null	Het
Cacng3	T	A	7: 122,271,008 (GRCm39)	C4*	probably null	Het
Cds1	G	A	5: 101,962,299 (GRCm39)	V305M	probably damaging	Het
Cecr2	T	G	6: 120,738,758 (GRCm39)	F1162V	probably damaging	Het
Cfap70	A	T	14: 20,498,631 (GRCm39)	Y19N	probably damaging	Het
Chrm5	A	G	2: 112,311,065 (GRCm39)	V17A	probably benign	Het
Col20a1	T	C	2: 180,642,231 (GRCm39)	I714T	probably damaging	Het
Cpeb2	T	A	5: 43,419,119 (GRCm39)	M156K	possibly damaging	Het
Cstdc6	T	C	16: 36,143,386 (GRCm39)		probably null	Het
Defb25	C	A	2: 152,464,332 (GRCm39)	V71L	probably benign	Het
Dhx35	A	T	2: 158,671,543 (GRCm39)	M325L	probably benign	Het
Dhx57	A	T	17: 80,558,902 (GRCm39)	L1019H	probably damaging	Het
Dnah6	T	A	6: 73,046,403 (GRCm39)	D3195V	probably damaging	Het
Dph5	A	G	3: 115,722,352 (GRCm39)	S277G	probably benign	Het
Dpm1	C	A	2: 168,065,075 (GRCm39)		probably null	Het
Dsg1a	A	T	18: 20,473,995 (GRCm39)	M1023L	probably benign	Het
Egf	A	G	3: 129,499,882 (GRCm39)	Y252H	probably benign	Het
Egf	A	G	3: 129,531,198 (GRCm39)	S126P	probably damaging	Het
Enam	T	C	5: 88,640,886 (GRCm39)	W183R	possibly damaging	Het
Foxn1	T	C	11: 78,251,866 (GRCm39)	Y455C	probably damaging	Het
Iars1	A	T	13: 49,879,678 (GRCm39)	D983V	possibly damaging	Het
Ikzf4	C	A	10: 128,470,545 (GRCm39)	G325V	probably damaging	Het
Ip6k3	C	T	17: 27,363,999 (GRCm39)	D350N	probably damaging	Het
Irgc	T	C	7: 24,131,431 (GRCm39)	D462G	probably benign	Het
Itprid1	T	C	6: 55,874,941 (GRCm39)	L297P	probably benign	Het
Jph3	A	G	8: 122,511,572 (GRCm39)	E520G	probably benign	Het
Kcna2	T	A	3: 107,012,476 (GRCm39)	D352E	probably benign	Het
Klk4	T	A	7: 43,534,785 (GRCm39)	I248N	probably damaging	Het
Krtap16-1	T	C	11: 99,876,123 (GRCm39)	Y427C	probably damaging	Het
Lgr4	A	G	2: 109,801,035 (GRCm39)		probably null	Het
Lhpp	C	T	7: 132,212,406 (GRCm39)		probably benign	Het
Lypd3	T	A	7: 24,339,656 (GRCm39)	V241D	probably damaging	Het
Lyz2	T	A	10: 117,116,678 (GRCm39)	N57Y	possibly damaging	Het
Man1a	A	G	10: 53,950,594 (GRCm39)	V176A	probably damaging	Het
Mcm4	G	A	16: 15,447,503 (GRCm39)	T487I	probably benign	Het
Mettl21c	T	A	1: 44,052,814 (GRCm39)	I68F	probably damaging	Het
Miip	T	A	4: 147,946,720 (GRCm39)	T313S	probably damaging	Het
Minar2	A	G	18: 59,195,531 (GRCm39)		probably null	Het
Mog	A	T	17: 37,323,311 (GRCm39)	I209K	probably damaging	Het
Myo1c	C	A	11: 75,563,008 (GRCm39)	D997E	probably benign	Het
Npc1	T	C	18: 12,352,261 (GRCm39)	Y146C	probably damaging	Het
Nploc4	A	G	11: 120,304,507 (GRCm39)	L238P	probably damaging	Het
Opa1	A	G	16: 29,432,947 (GRCm39)	N544S	probably benign	Het
Or2j6	T	C	7: 139,980,788 (GRCm39)	Y57C	probably damaging	Het
Or2v1	T	A	11: 49,025,874 (GRCm39)	M285K	probably damaging	Het
Or6k6	T	C	1: 173,945,078 (GRCm39)	H168R	probably benign	Het
Pam	C	T	1: 97,822,126 (GRCm39)		probably null	Het
Pdgfra	T	C	5: 75,324,438 (GRCm39)	Y98H	probably damaging	Het
Plcz1	C	T	6: 139,936,459 (GRCm39)	R590H	probably damaging	Het
Plxdc1	T	C	11: 97,824,838 (GRCm39)	Y339C	probably damaging	Het
Plxna1	T	C	6: 89,300,575 (GRCm39)	N1583S	probably damaging	Het
Plxna4	C	T	6: 32,174,023 (GRCm39)	V1191M	probably damaging	Het
Polk	T	A	13: 96,633,330 (GRCm39)	N238Y	probably benign	Het
Ptprq	T	C	10: 107,521,018 (GRCm39)	N718S	probably benign	Het
Rsrc1	A	T	3: 67,088,194 (GRCm39)	H176L	probably damaging	Het
Sbno1	T	C	5: 124,522,604 (GRCm39)	D1072G	probably damaging	Het
Scmh1	A	G	4: 120,341,028 (GRCm39)	K238R	probably damaging	Het
Senp7	A	G	16: 55,944,236 (GRCm39)	T187A	possibly damaging	Het
Slc12a4	T	C	8: 106,678,249 (GRCm39)	R315G	probably benign	Het
Slc16a10	A	G	10: 39,916,612 (GRCm39)	V430A	probably benign	Het
Slc26a7	T	C	4: 14,621,317 (GRCm39)	D23G	probably benign	Het
Slc28a2b	T	A	2: 122,357,928 (GRCm39)	*661R	probably null	Het
Slc7a7	A	G	14: 54,615,259 (GRCm39)	L246P	probably damaging	Het
Spata7	T	A	12: 98,629,428 (GRCm39)	S332T	probably benign	Het
Spsb1	A	G	4: 149,982,673 (GRCm39)	*274R	probably null	Het
Sspo	T	G	6: 48,463,349 (GRCm39)	V3767G	probably null	Het
Syt10	C	A	15: 89,711,144 (GRCm39)	A130S	probably benign	Het
Tgm6	T	A	2: 129,994,865 (GRCm39)		probably null	Het
Them7	A	C	2: 105,128,262 (GRCm39)	N81T	probably damaging	Het
Tinag	C	A	9: 76,859,217 (GRCm39)	A464S	probably damaging	Het
Tmem217	T	G	17: 29,745,284 (GRCm39)	I149L	probably benign	Het
Trp53rkb	T	G	2: 166,637,603 (GRCm39)	D186E	probably damaging	Het
Vmn1r20	T	C	6: 57,409,084 (GRCm39)	Y137H	probably damaging	Het
Vmn1r60	T	A	7: 5,547,379 (GRCm39)	L240F	probably benign	Het
Vmn1r64	A	G	7: 5,886,817 (GRCm39)	M242T	probably benign	Het
Xkr4	T	C	1: 3,740,886 (GRCm39)	N229S	probably benign	Het
Zcchc2	T	A	1: 105,931,853 (GRCm39)	L352M	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp638	T	C	6: 83,944,336 (GRCm39)	L1018P	probably damaging	Het

Other mutations in Il1rl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Il1rl1	APN	1	40,485,376 (GRCm39)	missense	possibly damaging	0.75
IGL01413:Il1rl1	APN	1	40,485,329 (GRCm39)	missense	possibly damaging	0.85
IGL01939:Il1rl1	APN	1	40,501,168 (GRCm39)	missense	possibly damaging	0.80
IGL02121:Il1rl1	APN	1	40,481,463 (GRCm39)	splice site	probably benign
IGL02160:Il1rl1	APN	1	40,500,997 (GRCm39)	missense	probably benign	0.00
IGL02695:Il1rl1	APN	1	40,485,718 (GRCm39)	missense	possibly damaging	0.47
R0007:Il1rl1	UTSW	1	40,485,331 (GRCm39)	missense	possibly damaging	0.95
R0105:Il1rl1	UTSW	1	40,481,734 (GRCm39)	splice site	probably benign
R0363:Il1rl1	UTSW	1	40,481,734 (GRCm39)	splice site	probably benign
R0508:Il1rl1	UTSW	1	40,490,877 (GRCm39)	missense	possibly damaging	0.87
R0637:Il1rl1	UTSW	1	40,481,734 (GRCm39)	splice site	probably benign
R0676:Il1rl1	UTSW	1	40,481,734 (GRCm39)	splice site	probably benign
R1371:Il1rl1	UTSW	1	40,481,873 (GRCm39)	missense	probably damaging	0.96
R2074:Il1rl1	UTSW	1	40,501,204 (GRCm39)	missense	probably damaging	0.99
R2309:Il1rl1	UTSW	1	40,481,817 (GRCm39)	missense	possibly damaging	0.46
R2426:Il1rl1	UTSW	1	40,485,779 (GRCm39)	missense	probably damaging	1.00
R3983:Il1rl1	UTSW	1	40,485,823 (GRCm39)	missense	possibly damaging	0.73
R4601:Il1rl1	UTSW	1	40,480,460 (GRCm39)	missense	possibly damaging	0.88
R4707:Il1rl1	UTSW	1	40,489,348 (GRCm39)	missense	probably damaging	0.96
R4720:Il1rl1	UTSW	1	40,485,838 (GRCm39)	missense	probably benign	0.24
R4784:Il1rl1	UTSW	1	40,489,348 (GRCm39)	missense	probably damaging	0.96
R5137:Il1rl1	UTSW	1	40,489,285 (GRCm39)	missense	probably benign
R5765:Il1rl1	UTSW	1	40,501,103 (GRCm39)	missense	probably benign	0.06
R5953:Il1rl1	UTSW	1	40,481,833 (GRCm39)	missense	probably benign	0.05
R6339:Il1rl1	UTSW	1	40,501,016 (GRCm39)	missense	possibly damaging	0.88
R7176:Il1rl1	UTSW	1	40,485,766 (GRCm39)	missense	probably damaging	1.00
R7677:Il1rl1	UTSW	1	40,485,864 (GRCm39)	makesense	probably null
R8129:Il1rl1	UTSW	1	40,490,987 (GRCm39)	missense	probably damaging	0.98
R8670:Il1rl1	UTSW	1	40,480,559 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTTGGCCTCATTTAAGCTGCTTGC -3'
(R):5'- GCACAAGGCTTACAATGGTTTCCTG -3'

Sequencing Primer
(F):5'- CAGGGACAGTAGCTCAAATTGATTC -3'
(R):5'- GGCTTACAATGGTTTCCTGAACAG -3'

Posted On

2013-07-24