Mutagenetix > Incidental Mutation

Incidental Mutation 'R2163:Il1r1'

235246

Institutional Source

Beutler Lab

Gene Symbol

Il1r1

Ensembl Gene

ENSMUSG00000026072

Gene Name

interleukin 1 receptor, type I

Synonyms

IL-iR, IL-1R1, Il1r-1, CD121a, IL-1 receptor alpha chain

MMRRC Submission

040166-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R2163 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40264240-40356417 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40334023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 198 (M198V)

Ref Sequence

ENSEMBL: ENSMUSP00000110443 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027241] [ENSMUST00000114795]

AlphaFold

P13504

Predicted Effect

probably benign
Transcript: ENSMUST00000027241
AA Change: M201V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027241
Gene: ENSMUSG00000026072
AA Change: M201V

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	38	117	2.94e-1	SMART
IG_like	132	218	5.56e0	SMART
IG	236	333	1.35e0	SMART
Blast:TIR	347	381	1e-7	BLAST
TIR	387	544	1.93e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114795
AA Change: M198V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110443
Gene: ENSMUSG00000026072
AA Change: M198V

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
IG	35	114	2.94e-1	SMART
IG_like	129	215	5.56e0	SMART
IG	233	330	1.35e0	SMART
Blast:TIR	344	378	1e-7	BLAST
TIR	384	541	1.93e-29	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

97% (76/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytokine receptor that belongs to the interleukin-1 receptor family. The encoded protein is a receptor for interleukin-1 alpha, interleukin-1 beta, and interleukin-1 receptor antagonist. It is an important mediator involved in many cytokine-induced immune and inflammatory responses. This gene is located in a cluster of related cytokine receptor genes on chromosome 2q12. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to bacterial infection, reduced IL1b responsiveness, delayed tooth eruption, decreased susceptibility to experimental autoimmune uveoritinitis, decreased susceptibility to kidney reperfusion injury, and late onset obesity. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, knock-out(2) Gene trapped(1)

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I07Rik	C	A	14: 67,175,997 (GRCm39)	T64K	unknown	Het
Ablim2	T	C	5: 35,959,697 (GRCm39)		probably benign	Het
Acp4	T	C	7: 43,905,400 (GRCm39)	D107G	probably damaging	Het
Adamts2	T	A	11: 50,679,632 (GRCm39)	C871S	probably benign	Het
Adamts3	A	G	5: 89,856,577 (GRCm39)	V332A	probably damaging	Het
Alkal1	C	T	1: 6,459,736 (GRCm39)	T104M	probably benign	Het
Astn1	A	G	1: 158,329,720 (GRCm39)	S192G	probably damaging	Het
Axdnd1	A	C	1: 156,219,573 (GRCm39)	V337G	probably damaging	Het
Baiap2l2	T	C	15: 79,143,395 (GRCm39)	D481G	possibly damaging	Het
Cacna2d1	C	T	5: 16,567,317 (GRCm39)	T964I	probably damaging	Het
Carf	T	C	1: 60,186,645 (GRCm39)		probably benign	Het
Catsper2	T	C	2: 121,230,656 (GRCm39)	D295G	probably damaging	Het
Cdh1	A	G	8: 107,375,713 (GRCm39)	T84A	probably benign	Het
Chd8	T	A	14: 52,436,275 (GRCm39)	H2508L	possibly damaging	Het
Chl1	A	T	6: 103,688,192 (GRCm39)	T284S	probably damaging	Het
Chtop	A	T	3: 90,409,518 (GRCm39)	M125K	probably benign	Het
Col14a1	T	A	15: 55,308,041 (GRCm39)		probably benign	Het
Cplane1	T	A	15: 8,232,735 (GRCm39)		probably null	Het
Cyp2b10	A	T	7: 25,624,810 (GRCm39)		probably benign	Het
Cyp2c70	G	A	19: 40,149,163 (GRCm39)	H328Y	possibly damaging	Het
Dcbld1	A	G	10: 52,162,452 (GRCm39)	T77A	probably damaging	Het
Dnah6	A	T	6: 73,066,729 (GRCm39)		probably null	Het
Efhd1	A	T	1: 87,217,195 (GRCm39)	D104V	probably damaging	Het
Eif5b	A	T	1: 38,087,875 (GRCm39)	D957V	probably benign	Het
Eps15	T	A	4: 109,227,866 (GRCm39)	S549R	probably damaging	Het
Fbxo3	C	A	2: 103,885,330 (GRCm39)	H400N	probably benign	Het
Fcer1a	A	G	1: 173,050,264 (GRCm39)	V86A	probably damaging	Het
Fh1	A	G	1: 175,442,406 (GRCm39)	M148T	possibly damaging	Het
Foxc1	C	A	13: 31,992,586 (GRCm39)	H466N	unknown	Het
Gadl1	T	A	9: 115,778,626 (GRCm39)	I180N	possibly damaging	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gm21718	T	C	14: 51,555,223 (GRCm39)		noncoding transcript	Het
Hivep2	T	A	10: 14,003,970 (GRCm39)	Y189*	probably null	Het
Hoxd13	T	A	2: 74,499,413 (GRCm39)	S254T	possibly damaging	Het
Hspd1	A	G	1: 55,117,697 (GRCm39)		probably benign	Het
Katnal1	T	A	5: 148,825,746 (GRCm39)	I362F	probably damaging	Het
Muc2	CGTG	CGTGTG	7: 141,699,185 (GRCm38)		probably null	Het
Mybpc1	T	C	10: 88,376,804 (GRCm39)		probably benign	Het
Mycbp2	A	G	14: 103,407,291 (GRCm39)		probably null	Het
Nell2	G	T	15: 95,327,859 (GRCm39)	N301K	probably damaging	Het
Nenf	T	A	1: 191,042,132 (GRCm39)	D108V	probably damaging	Het
Nfkbiz	T	C	16: 55,638,581 (GRCm39)	N293S	probably benign	Het
Nipbl	T	C	15: 8,366,403 (GRCm39)	K1229E	probably damaging	Het
Nlrp4a	T	C	7: 26,152,822 (GRCm39)	F631L	probably benign	Het
Nrp1	T	A	8: 129,224,352 (GRCm39)	V705E	probably damaging	Het
Nsf	G	C	11: 103,754,159 (GRCm39)	A459G	possibly damaging	Het
Or1af1	A	G	2: 37,110,089 (GRCm39)	E196G	probably damaging	Het
Or5w10	A	G	2: 87,375,238 (GRCm39)	S217P	probably damaging	Het
Pdia4	C	T	6: 47,775,341 (GRCm39)	D490N	possibly damaging	Het
Pinlyp	T	A	7: 24,241,226 (GRCm39)	Y192F	probably benign	Het
Pkd2	T	C	5: 104,603,543 (GRCm39)		probably benign	Het
Ppara	A	G	15: 85,685,247 (GRCm39)	K399E	probably benign	Het
Ppp4r2	C	A	6: 100,842,047 (GRCm39)	N169K	probably damaging	Het
Prom1	T	A	5: 44,171,505 (GRCm39)	E632V	possibly damaging	Het
Rpap3	T	A	15: 97,578,229 (GRCm39)	Y562F	possibly damaging	Het
Rsph14	T	A	10: 74,793,611 (GRCm39)	K263N	probably damaging	Het
Sanbr	T	C	11: 23,526,826 (GRCm39)		probably benign	Het
Scn11a	T	G	9: 119,584,091 (GRCm39)	D1508A	probably damaging	Het
Scn7a	T	C	2: 66,506,300 (GRCm39)	T1530A	probably damaging	Het
Sec14l1	T	A	11: 117,034,108 (GRCm39)		probably null	Het
Slc4a4	A	G	5: 89,362,435 (GRCm39)	I840V	probably damaging	Het
Slco1a8	G	A	6: 141,926,664 (GRCm39)	T554I	possibly damaging	Het
Slco1c1	T	A	6: 141,505,478 (GRCm39)	V419D	probably benign	Het
Sltm	T	A	9: 70,498,964 (GRCm39)	F1013I	probably damaging	Het
Spam1	A	G	6: 24,796,846 (GRCm39)	K266E	probably benign	Het
Syt15	A	G	14: 33,948,073 (GRCm39)	E306G	probably benign	Het
Tap1	A	T	17: 34,408,447 (GRCm39)		probably null	Het
Tbc1d16	G	C	11: 119,045,904 (GRCm39)		probably benign	Het
Tex47	T	C	5: 7,355,022 (GRCm39)	Y68H	probably damaging	Het
Ttn	T	C	2: 76,642,845 (GRCm39)	T13264A	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubxn2a	A	T	12: 4,935,757 (GRCm39)	F131Y	probably damaging	Het
Usp40	T	C	1: 87,923,580 (GRCm39)		probably benign	Het
Vmn1r170	T	C	7: 23,306,462 (GRCm39)	L288P	probably damaging	Het
Vmn1r175	A	G	7: 23,508,352 (GRCm39)	Y92H	probably benign	Het
Wdpcp	G	T	11: 21,835,015 (GRCm39)	E673*	probably null	Het
Zfr	T	A	15: 12,162,309 (GRCm39)	L820I	probably damaging	Het

Other mutations in Il1r1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01457:Il1r1	APN	1	40,352,330 (GRCm39)	missense	probably damaging	1.00
IGL01532:Il1r1	APN	1	40,334,088 (GRCm39)	critical splice donor site	probably null
IGL01610:Il1r1	APN	1	40,341,560 (GRCm39)	missense	probably benign	0.09
IGL01668:Il1r1	APN	1	40,352,489 (GRCm39)	missense	probably benign	0.31
IGL01729:Il1r1	APN	1	40,333,986 (GRCm39)	missense	probably damaging	1.00
IGL02201:Il1r1	APN	1	40,352,428 (GRCm39)	missense	probably damaging	0.97
IGL02229:Il1r1	APN	1	40,352,518 (GRCm39)	missense	probably damaging	0.99
IGL02428:Il1r1	APN	1	40,352,392 (GRCm39)	missense	possibly damaging	0.74
IGL02902:Il1r1	APN	1	40,341,569 (GRCm39)	missense	probably benign	0.09
G5030:Il1r1	UTSW	1	40,352,323 (GRCm39)	missense	possibly damaging	0.80
R0604:Il1r1	UTSW	1	40,321,406 (GRCm39)	missense	probably benign	0.36
R1515:Il1r1	UTSW	1	40,332,509 (GRCm39)	nonsense	probably null
R1530:Il1r1	UTSW	1	40,351,521 (GRCm39)	missense	probably benign	0.00
R1727:Il1r1	UTSW	1	40,332,424 (GRCm39)	missense	probably benign	0.16
R1957:Il1r1	UTSW	1	40,352,300 (GRCm39)	nonsense	probably null
R2313:Il1r1	UTSW	1	40,352,470 (GRCm39)	missense	probably benign	0.19
R4345:Il1r1	UTSW	1	40,337,084 (GRCm39)	missense	probably benign	0.00
R4622:Il1r1	UTSW	1	40,351,580 (GRCm39)	missense	probably damaging	0.96
R4735:Il1r1	UTSW	1	40,332,455 (GRCm39)	missense	probably benign	0.00
R5033:Il1r1	UTSW	1	40,332,684 (GRCm39)	missense	probably damaging	1.00
R5586:Il1r1	UTSW	1	40,264,411 (GRCm39)	start gained	probably benign
R6375:Il1r1	UTSW	1	40,334,050 (GRCm39)	missense	probably damaging	1.00
R6383:Il1r1	UTSW	1	40,352,495 (GRCm39)	missense	possibly damaging	0.58
R6618:Il1r1	UTSW	1	40,339,971 (GRCm39)	missense	probably damaging	0.97
R7169:Il1r1	UTSW	1	40,332,519 (GRCm39)	critical splice donor site	probably null
R7384:Il1r1	UTSW	1	40,321,421 (GRCm39)	missense	possibly damaging	0.64
R7798:Il1r1	UTSW	1	40,349,526 (GRCm39)	missense	probably benign
R8040:Il1r1	UTSW	1	40,352,509 (GRCm39)	missense	probably benign	0.01
R8129:Il1r1	UTSW	1	40,341,447 (GRCm39)	missense	probably benign	0.04
R9158:Il1r1	UTSW	1	40,332,391 (GRCm39)	nonsense	probably null
R9643:Il1r1	UTSW	1	40,341,532 (GRCm39)	missense	probably damaging	1.00
R9723:Il1r1	UTSW	1	40,332,721 (GRCm39)	missense	probably benign	0.00
R9748:Il1r1	UTSW	1	40,349,496 (GRCm39)	missense	probably benign
RF007:Il1r1	UTSW	1	40,352,438 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGCTCCTAACTGTCCCATG -3'
(R):5'- GTCATTGACCAGTTCCTAGACTTAG -3'

Sequencing Primer
(F):5'- TTAGAACTGTAAACCATTCCACTGC -3'
(R):5'- GTTCCTTTTTAGACAACAGAGCAATG -3'

Posted On

2014-10-01