Mutagenetix > Incidental Mutation

Incidental Mutation 'R7857:Il1rl2'

607258

Institutional Source

Beutler Lab

Gene Symbol

Il1rl2

Ensembl Gene

ENSMUSG00000070942

Gene Name

interleukin 1 receptor-like 2

Synonyms

MMRRC Submission

045910-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7857 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40363770-40406722 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40366642 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 59 (Y59H)

Ref Sequence

ENSEMBL: ENSMUSP00000092630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095020] [ENSMUST00000193388] [ENSMUST00000194296]

AlphaFold

Q9ERS7

Predicted Effect

probably benign
Transcript: ENSMUST00000095020
AA Change: Y59H

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000092630
Gene: ENSMUSG00000070942
AA Change: Y59H

Domain	Start	End	E-Value	Type
low complexity region	6	18	N/A	INTRINSIC
IG	29	115	7.52e-8	SMART
IG	134	219	1.94e-1	SMART
IG_like	237	333	2.39e1	SMART
transmembrane domain	340	362	N/A	INTRINSIC
TIR	385	542	5.05e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193388
AA Change: Y59H

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141507
Gene: ENSMUSG00000070942
AA Change: Y59H

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IG	29	115	3.1e-10	SMART
Pfam:Ig_2	127	167	2.4e-1	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000194296
AA Change: Y59H

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142248
Gene: ENSMUSG00000070942
AA Change: Y59H

Domain	Start	End	E-Value	Type
low complexity region	6	18	N/A	INTRINSIC
IG	29	115	7.52e-8	SMART
IG	134	219	1.94e-1	SMART
IG_like	237	333	2.39e1	SMART
transmembrane domain	340	362	N/A	INTRINSIC
TIR	385	542	5.05e-33	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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. An experiment with transient gene expression demonstrated that this receptor was incapable of binding to interleukin 1 alpha and interleukin 1 beta with high affinity. This gene and four other interleukin 1 receptor family genes, including interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2), interleukin 1 receptor-like 1 (IL1RL1), and interleukin 18 receptor 1 (IL18R1), form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a reporter allele are viable and overtly normal and have normal skin in an unchallenged context. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	T	12: 113,454,104 (GRCm39)	N307I	probably benign	Het
Ahnak	G	A	19: 8,984,832 (GRCm39)	V2039M	probably damaging	Het
Arhgef40	T	A	14: 52,226,212 (GRCm39)	H85Q	probably damaging	Het
Ash1l	T	A	3: 88,891,616 (GRCm39)	L1165*	probably null	Het
Cck	A	G	9: 121,322,514 (GRCm39)	W100R	probably damaging	Het
Cdon	A	G	9: 35,367,908 (GRCm39)	R268G	possibly damaging	Het
Cldn12	T	C	5: 5,558,209 (GRCm39)	T73A	probably benign	Het
Cnot1	ACG	A	8: 96,472,275 (GRCm39)		probably null	Het
Ctnnd2	A	T	15: 30,620,076 (GRCm39)	T143S	probably benign	Het
Cyp2b13	T	A	7: 25,788,153 (GRCm39)	L427Q	possibly damaging	Het
Dnah3	A	T	7: 119,550,927 (GRCm39)	Y152N	probably damaging	Het
Dsg1b	A	T	18: 20,529,520 (GRCm39)	M322L	probably benign	Het
Efhc1	T	C	1: 21,045,226 (GRCm39)	M414T	probably benign	Het
Elp3	G	A	14: 65,800,759 (GRCm39)	T302M	probably benign	Het
Entpd6	T	C	2: 150,607,473 (GRCm39)		probably null	Het
Epb41l4a	G	T	18: 34,139,098 (GRCm39)	C13*	probably null	Het
Ephb6	T	C	6: 41,590,331 (GRCm39)	S28P	probably benign	Het
Fbxo21	T	C	5: 118,126,878 (GRCm39)	S210P	probably benign	Het
Gapvd1	T	A	2: 34,619,079 (GRCm39)	E98V	probably benign	Het
Gcdh	A	G	8: 85,619,093 (GRCm39)	V157A	probably damaging	Het
Gm10638	G	T	8: 87,472,891 (GRCm39)	R188L	unknown	Het
Grk3	T	C	5: 113,109,427 (GRCm39)	T177A	unknown	Het
Gsc	T	G	12: 104,438,424 (GRCm39)	E148A	probably damaging	Het
Hacd4	C	T	4: 88,355,702 (GRCm39)	G61E	probably damaging	Het
Herc3	G	A	6: 58,820,637 (GRCm39)	W7*	probably null	Het
Irag1	T	A	7: 110,522,742 (GRCm39)	K234*	probably null	Het
Kif1c	A	G	11: 70,619,103 (GRCm39)	T913A	probably benign	Het
Lipg	C	T	18: 75,078,891 (GRCm39)	G454R	probably damaging	Het
Lrrc74a	A	G	12: 86,788,485 (GRCm39)	D155G	probably benign	Het
Ltf	A	T	9: 110,851,444 (GRCm39)	I137F	probably benign	Het
Med19	T	A	2: 84,515,969 (GRCm39)	M166K	probably damaging	Het
Mei1	A	T	15: 81,976,918 (GRCm39)	Y167F	not run	Het
Ncaph	A	C	2: 126,946,165 (GRCm39)	D724E	probably damaging	Het
Neb	T	A	2: 52,112,996 (GRCm39)	D4266V	probably damaging	Het
Npffr1	G	T	10: 61,449,765 (GRCm39)	W13L	probably benign	Het
Or51b6	A	T	7: 103,555,817 (GRCm39)	H54L		Het
Pcdha12	A	T	18: 37,155,468 (GRCm39)	D729V	probably benign	Het
Pcdha7	A	T	18: 37,108,892 (GRCm39)	E639V	probably damaging	Het
Pcdhb18	A	T	18: 37,624,364 (GRCm39)	M565L	probably benign	Het
Plcd3	A	T	11: 102,968,760 (GRCm39)	D310E	probably benign	Het
Pmm2	C	G	16: 8,460,632 (GRCm39)	Q29E	probably benign	Het
Poli	T	G	18: 70,642,225 (GRCm39)	E658D	probably benign	Het
Prss22	G	A	17: 24,212,853 (GRCm39)	R295C	probably damaging	Het
Psg26	A	G	7: 18,212,215 (GRCm39)	I380T	possibly damaging	Het
Reep5	A	T	18: 34,505,521 (GRCm39)	V50E	possibly damaging	Het
Rfx7	A	G	9: 72,500,605 (GRCm39)	T122A	possibly damaging	Het
Robo1	A	G	16: 72,767,099 (GRCm39)	N424D	probably damaging	Het
Slc4a7	T	C	14: 14,772,624 (GRCm38)	V711A	probably benign	Het
Smc4	T	C	3: 68,940,552 (GRCm39)	V1162A	possibly damaging	Het
Snta1	A	T	2: 154,225,817 (GRCm39)	L189H	probably benign	Het
Tmem121	C	T	12: 113,152,696 (GRCm39)	R305C	possibly damaging	Het
Tmem68	A	G	4: 3,551,825 (GRCm39)	V271A	probably damaging	Het
Tmx4	T	G	2: 134,481,582 (GRCm39)	M114L	probably benign	Het
Trps1	T	A	15: 50,524,401 (GRCm39)	R1176S	probably damaging	Het
Usp21	A	G	1: 171,114,335 (GRCm39)	L63P	probably benign	Het
Vmn2r84	T	A	10: 130,226,738 (GRCm39)	M367L	probably benign	Het
Wbp2nl	A	G	15: 82,190,273 (GRCm39)	N67S	probably benign	Het
Wdr35	T	C	12: 9,058,113 (GRCm39)		probably null	Het
Zfp236	G	A	18: 82,686,726 (GRCm39)	Q271*	probably null	Het
Zfp831	T	C	2: 174,547,035 (GRCm39)	V1406A	probably benign	Het
Zfp934	G	A	13: 62,665,361 (GRCm39)	H459Y		Het

Other mutations in Il1rl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01631:Il1rl2	APN	1	40,395,974 (GRCm39)	splice site	probably null
IGL02490:Il1rl2	APN	1	40,395,972 (GRCm39)	splice site	probably benign
IGL03201:Il1rl2	APN	1	40,382,200 (GRCm39)	missense	possibly damaging	0.95
IGL03269:Il1rl2	APN	1	40,404,472 (GRCm39)	missense	probably damaging	1.00
R0088:Il1rl2	UTSW	1	40,404,213 (GRCm39)	missense	possibly damaging	0.87
R0418:Il1rl2	UTSW	1	40,365,662 (GRCm39)	missense	unknown
R0504:Il1rl2	UTSW	1	40,368,216 (GRCm39)	missense	probably benign	0.00
R1629:Il1rl2	UTSW	1	40,396,020 (GRCm39)	missense	probably benign	0.02
R1679:Il1rl2	UTSW	1	40,382,320 (GRCm39)	missense	probably benign	0.36
R1680:Il1rl2	UTSW	1	40,390,953 (GRCm39)	missense	possibly damaging	0.61
R1892:Il1rl2	UTSW	1	40,366,694 (GRCm39)	missense	probably damaging	1.00
R1938:Il1rl2	UTSW	1	40,402,484 (GRCm39)	missense	probably damaging	1.00
R2020:Il1rl2	UTSW	1	40,404,374 (GRCm39)	missense	probably damaging	0.98
R4193:Il1rl2	UTSW	1	40,404,208 (GRCm39)	missense	probably damaging	1.00
R4364:Il1rl2	UTSW	1	40,390,951 (GRCm39)	missense	probably benign
R4365:Il1rl2	UTSW	1	40,390,951 (GRCm39)	missense	probably benign
R4657:Il1rl2	UTSW	1	40,366,470 (GRCm39)	intron	probably benign
R4840:Il1rl2	UTSW	1	40,366,547 (GRCm39)	missense	possibly damaging	0.84
R4890:Il1rl2	UTSW	1	40,366,470 (GRCm39)	intron	probably benign
R5051:Il1rl2	UTSW	1	40,382,254 (GRCm39)	missense	probably benign	0.03
R5239:Il1rl2	UTSW	1	40,404,255 (GRCm39)	missense	probably benign	0.03
R5447:Il1rl2	UTSW	1	40,368,316 (GRCm39)	missense	probably damaging	1.00
R6013:Il1rl2	UTSW	1	40,391,017 (GRCm39)	missense	possibly damaging	0.82
R6162:Il1rl2	UTSW	1	40,391,038 (GRCm39)	missense	probably damaging	1.00
R6244:Il1rl2	UTSW	1	40,366,726 (GRCm39)	missense	possibly damaging	0.78
R6798:Il1rl2	UTSW	1	40,404,400 (GRCm39)	missense	probably damaging	1.00
R7667:Il1rl2	UTSW	1	40,404,413 (GRCm39)	missense	probably damaging	0.99
R7855:Il1rl2	UTSW	1	40,382,279 (GRCm39)	missense	probably damaging	1.00
R8255:Il1rl2	UTSW	1	40,404,471 (GRCm39)	missense	probably damaging	1.00
R8903:Il1rl2	UTSW	1	40,366,530 (GRCm39)	critical splice acceptor site	probably null
R9236:Il1rl2	UTSW	1	40,368,221 (GRCm39)	missense	probably damaging	1.00
R9448:Il1rl2	UTSW	1	40,366,604 (GRCm39)	missense	probably benign	0.36
R9485:Il1rl2	UTSW	1	40,366,470 (GRCm39)	intron	probably benign
R9487:Il1rl2	UTSW	1	40,366,470 (GRCm39)	intron	probably benign
R9621:Il1rl2	UTSW	1	40,366,470 (GRCm39)	intron	probably benign
R9746:Il1rl2	UTSW	1	40,404,519 (GRCm39)	missense	possibly damaging	0.94
Z1177:Il1rl2	UTSW	1	40,366,470 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- GCAATTTCACATTGACCAGAGC -3'
(R):5'- GCAGTTGGAAACTTGTCTAGGC -3'

Sequencing Primer
(F):5'- GAATAATGACTCCAGTTTTCTGCC -3'
(R):5'- TGTCTAGGCTATATAACAAGTCTCC -3'

Posted On

2019-12-20