Mutagenetix > Incidental Mutation

Incidental Mutation 'R7018:Ifnlr1'

545442

Institutional Source

Beutler Lab

Gene Symbol

Ifnlr1

Ensembl Gene

ENSMUSG00000062157

Gene Name

interferon lambda receptor 1

Synonyms

IFNLR1, Il28ra, CRF2-12

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135686287-135708181 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135703824 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 208 (Y208H)

Ref Sequence

ENSEMBL: ENSMUSP00000074009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074408]

AlphaFold

Q8CGK5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074408
AA Change: Y208H

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000074009
Gene: ENSMUSG00000062157
AA Change: Y208H

Domain	Start	End	E-Value	Type
low complexity region	10	15	N/A	INTRINSIC
FN3	24	108	7.75e0	SMART
transmembrane domain	226	248	N/A	INTRINSIC
low complexity region	320	337	N/A	INTRINSIC
low complexity region	376	397	N/A	INTRINSIC
low complexity region	482	505	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the class II cytokine receptor family. This protein forms a receptor complex with interleukine 10 receptor, beta (IL10RB). The receptor complex has been shown to interact with three closely related cytokines, including interleukin 28A (IL28A), interleukin 28B (IL28B), and interleukin 29 (IL29). The expression of all three cytokines can be induced by viral infection. The cells overexpressing this protein have been found to have enhanced responses to IL28A and IL29, but decreased response to IL28B. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and normal with respect to viral infection, however antiviral response evoked by TLRs are significantly reduced. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apcdd1	G	T	18: 62,937,049	R129L	probably damaging	Het
Arhgef28	C	T	13: 97,965,435	V844I	probably damaging	Het
Arhgef5	T	C	6: 43,288,731	V1569A	probably damaging	Het
Atr	T	A	9: 95,866,694	S431T	probably benign	Het
Cdh11	T	C	8: 102,634,321	D795G	possibly damaging	Het
Crygf	T	C	1: 65,927,971	S85P	probably benign	Het
Diexf	A	G	1: 193,114,855	I563T	probably benign	Het
Dip2c	T	A	13: 9,659,278	Y1385N	probably damaging	Het
Dnah14	G	A	1: 181,626,944	V840I	possibly damaging	Het
Dsg1a	T	C	18: 20,328,738	F299L	possibly damaging	Het
Fgfr4	A	T	13: 55,166,200	S576C	probably damaging	Het
Frmd8	T	C	19: 5,869,518	D167G	probably damaging	Het
Gm5105	G	A	3: 138,049,558	T89I	unknown	Het
Grhl1	C	T	12: 24,575,997	S35L	possibly damaging	Het
Gsn	A	G	2: 35,293,506	E242G	probably benign	Het
Hcrtr1	A	G	4: 130,135,868	I140T	probably damaging	Het
Ighv1-58	T	C	12: 115,312,365	Y51C	probably damaging	Het
Iqcj	T	A	3: 68,041,247	Y21*	probably null	Het
Kcnc4	T	C	3: 107,458,862	Y10C	probably benign	Het
Kcnk7	G	T	19: 5,706,132	G129W	probably damaging	Het
Kcnq2	T	A	2: 181,081,724	R620*	probably null	Het
Klk13	C	A	7: 43,726,702	P267Q	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
L3mbtl4	G	A	17: 68,486,943	R314H	probably damaging	Het
Lamc2	T	A	1: 153,136,742	M729L	probably benign	Het
Lyst	T	G	13: 13,743,459		probably null	Het
Med13l	G	A	5: 118,751,986	R1909H	probably damaging	Het
Mstn	T	A	1: 53,064,084	L193Q	possibly damaging	Het
Mylk	T	C	16: 35,000,426	V125A	possibly damaging	Het
Nalcn	T	A	14: 123,409,821	M547L	probably damaging	Het
Nckap5	A	G	1: 126,025,048	S1256P	probably damaging	Het
Nkain1	T	C	4: 130,532,118	Y189C	probably damaging	Het
Olfr1164	T	A	2: 88,093,256	I227F	probably benign	Het
Olfr193	A	G	16: 59,110,607	M1T	probably null	Het
Olfr490	T	G	7: 108,286,344	I261L	probably benign	Het
Olfr761	A	T	17: 37,952,502	I174N	probably damaging	Het
Oosp3	T	A	19: 11,699,419	D47E	probably benign	Het
Pcdh15	G	T	10: 74,466,354	G942W	probably damaging	Het
Pcyox1l	C	A	18: 61,707,554		probably benign	Het
Peg3	T	C	7: 6,708,839	E1128G	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Plscr1	T	A	9: 92,264,662	V119D	probably damaging	Het
Prss56	A	T	1: 87,185,948	D258V	possibly damaging	Het
Ptpn23	T	G	9: 110,385,816	K85Q	possibly damaging	Het
Ranbp3l	C	A	15: 9,007,285	S7Y	probably benign	Het
Rnf31	T	C	14: 55,592,233	L85P	probably damaging	Het
Rptn	T	C	3: 93,397,900	C847R	possibly damaging	Het
Six4	T	A	12: 73,108,953	E413D	probably benign	Het
Slc30a2	G	A	4: 134,347,415	R161Q	probably damaging	Het
Sned1	T	C	1: 93,284,421	V1115A	probably damaging	Het
Spen	T	C	4: 141,493,444	K401E	unknown	Het
Srbd1	T	A	17: 86,136,415	R128W	possibly damaging	Het
Strc	A	T	2: 121,369,058	I1300N	probably damaging	Het
Susd1	T	G	4: 59,390,627	T230P	probably benign	Het
Thumpd2	G	T	17: 81,055,897	S47*	probably null	Het
Tmprss11a	C	T	5: 86,428,570	V141I	probably damaging	Het
Tmprss15	T	C	16: 79,024,853	Y438C	possibly damaging	Het
Tnfrsf1a	T	C	6: 125,356,951	S56P	probably damaging	Het
Ttc39d	T	C	17: 80,216,181	W90R	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Wdr20rt	A	T	12: 65,225,762		probably null	Het
Zfp646	C	A	7: 127,882,322	Q1224K	probably benign	Het

Other mutations in Ifnlr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00817:Ifnlr1	APN	4	135704285	missense	probably benign	0.28
IGL01637:Ifnlr1	APN	4	135686545	missense	possibly damaging	0.63
IGL02090:Ifnlr1	APN	4	135705267	missense	probably benign	0.23
R0677:Ifnlr1	UTSW	4	135705634	missense	possibly damaging	0.78
R0723:Ifnlr1	UTSW	4	135701213	splice site	probably benign
R0762:Ifnlr1	UTSW	4	135701329	missense	possibly damaging	0.90
R1169:Ifnlr1	UTSW	4	135705108	missense	probably benign	0.00
R1303:Ifnlr1	UTSW	4	135704217	missense	possibly damaging	0.67
R1819:Ifnlr1	UTSW	4	135686523	start gained	probably benign
R1957:Ifnlr1	UTSW	4	135686570	missense	probably damaging	1.00
R2041:Ifnlr1	UTSW	4	135705837	missense	possibly damaging	0.51
R2509:Ifnlr1	UTSW	4	135705248	missense	probably damaging	1.00
R2510:Ifnlr1	UTSW	4	135705248	missense	probably damaging	1.00
R2511:Ifnlr1	UTSW	4	135705248	missense	probably damaging	1.00
R3020:Ifnlr1	UTSW	4	135705730	small deletion	probably benign
R3944:Ifnlr1	UTSW	4	135701228	missense	probably damaging	1.00
R4495:Ifnlr1	UTSW	4	135705768	missense	probably damaging	0.98
R4804:Ifnlr1	UTSW	4	135705336	missense	possibly damaging	0.50
R4938:Ifnlr1	UTSW	4	135705282	missense	probably benign	0.35
R5070:Ifnlr1	UTSW	4	135704198	missense	probably benign	0.00
R5073:Ifnlr1	UTSW	4	135705146	missense	probably benign	0.06
R5493:Ifnlr1	UTSW	4	135705566	missense	probably benign	0.25
R5913:Ifnlr1	UTSW	4	135705269	missense	probably damaging	1.00
R5913:Ifnlr1	UTSW	4	135705270	missense	probably damaging	1.00
R5959:Ifnlr1	UTSW	4	135705341	missense	possibly damaging	0.94
R6032:Ifnlr1	UTSW	4	135705626	missense	probably benign	0.03
R6032:Ifnlr1	UTSW	4	135705626	missense	probably benign	0.03
R6136:Ifnlr1	UTSW	4	135703797	missense	possibly damaging	0.92
R7651:Ifnlr1	UTSW	4	135690608	missense	possibly damaging	0.66
R8945:Ifnlr1	UTSW	4	135704298	missense	probably damaging	1.00
R8976:Ifnlr1	UTSW	4	135701339	missense	probably damaging	1.00
R9188:Ifnlr1	UTSW	4	135698860	missense	probably damaging	1.00
R9427:Ifnlr1	UTSW	4	135698831	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAAGAAAGCTCCGTGGTCCC -3'
(R):5'- CTGCTCAATCCCAGGAGAATAAG -3'

Sequencing Primer
(F):5'- TGGCCACTTCCACCACCG -3'
(R):5'- CATTCTAGTGGAAGCCAAGTCTC -3'

Posted On

2019-05-13