Mutagenetix > Incidental Mutation

Incidental Mutation 'R2041:Ifnlr1'

224896

Institutional Source

Beutler Lab

Gene Symbol

Ifnlr1

Ensembl Gene

ENSMUSG00000062157

Gene Name

interferon lambda receptor 1

Synonyms

IFNLR1, Il28ra, CRF2-12

MMRRC Submission

040048-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2041 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135413598-135435492 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 135433148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 528 (M528K)

Ref Sequence

ENSEMBL: ENSMUSP00000074009 (fasta)

Gene Model

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

AlphaFold

Q8CGK5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074408
AA Change: M528K

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000074009
Gene: ENSMUSG00000062157
AA Change: M528K

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (61/61)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 144,982,211 (GRCm39)	D265E	probably damaging	Het
2610021A01Rik	A	G	7: 41,275,403 (GRCm39)	R369G	possibly damaging	Het
Actr3b	T	C	5: 25,965,128 (GRCm39)		probably null	Het
Adamts12	A	T	15: 11,215,821 (GRCm39)	M281L	probably damaging	Het
Aipl1	T	A	11: 71,922,332 (GRCm39)	M126L	possibly damaging	Het
Akap12	C	T	10: 4,306,489 (GRCm39)	P1100S	probably benign	Het
Alox8	T	A	11: 69,088,517 (GRCm39)	H40L	possibly damaging	Het
Anks1	T	A	17: 28,227,388 (GRCm39)	F659L	probably damaging	Het
Asxl3	G	T	18: 22,656,508 (GRCm39)	R1506L	probably benign	Het
Bicd2	A	G	13: 49,495,252 (GRCm39)	T36A	probably benign	Het
Ccar1	A	T	10: 62,601,827 (GRCm39)	L448Q	probably damaging	Het
Ccdc17	T	G	4: 116,456,789 (GRCm39)	N497K	probably damaging	Het
Chek2	T	C	5: 110,996,530 (GRCm39)	I164T	probably damaging	Het
Cntnap5c	T	C	17: 58,411,765 (GRCm39)		probably null	Het
Cntnap5c	T	A	17: 58,505,984 (GRCm39)	D669E	probably benign	Het
Cpsf6	A	G	10: 117,195,033 (GRCm39)	I482T	probably damaging	Het
Csf3	C	T	11: 98,592,483 (GRCm39)	S65L	possibly damaging	Het
Dlc1	A	G	8: 37,049,922 (GRCm39)	Y1049H	probably damaging	Het
Dnah6	T	C	6: 73,050,422 (GRCm39)	D3048G	probably damaging	Het
Eif4g3	T	A	4: 137,832,617 (GRCm39)		probably benign	Het
Epb41l4b	T	C	4: 57,084,070 (GRCm39)	K195R	probably damaging	Het
Epn1	T	C	7: 5,086,874 (GRCm39)	S41P	probably damaging	Het
Fam120a	C	A	13: 49,051,243 (GRCm39)	V721L	probably benign	Het
Fchsd1	T	A	18: 38,100,729 (GRCm39)		probably null	Het
Fer1l6	G	A	15: 58,430,155 (GRCm39)	G194D	probably damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Fyb1	A	C	15: 6,674,268 (GRCm39)	T635P	possibly damaging	Het
Gpr153	A	G	4: 152,367,810 (GRCm39)	S554G	probably benign	Het
Grm1	A	G	10: 10,622,347 (GRCm39)	F459L	probably damaging	Het
H60c	C	T	10: 3,209,972 (GRCm39)	G105D	probably damaging	Het
Lama4	A	T	10: 38,945,987 (GRCm39)	D790V	probably damaging	Het
Mfsd13b	T	C	7: 120,591,139 (GRCm39)		probably benign	Het
Mis12	T	A	11: 70,916,132 (GRCm39)	I55N	probably damaging	Het
Morn1	T	C	4: 155,175,399 (GRCm39)	Y103H	probably damaging	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
Ndst3	C	A	3: 123,465,864 (GRCm39)	G36V	probably benign	Het
Nlrp4a	T	A	7: 26,149,611 (GRCm39)	M406K	probably damaging	Het
Or4p18	T	C	2: 88,232,568 (GRCm39)	T237A	probably damaging	Het
Or51t4	T	A	7: 102,598,170 (GRCm39)	V156E	probably damaging	Het
Or5b106	A	T	19: 13,124,041 (GRCm39)		probably benign	Het
Or7g32	A	T	9: 19,408,131 (GRCm39)	D29V	probably benign	Het
Or9m1	T	C	2: 87,733,141 (GRCm39)	N293S	probably damaging	Het
Pars2	A	G	4: 106,510,814 (GRCm39)	T199A	probably damaging	Het
Plcb4	C	T	2: 135,780,191 (GRCm39)	T172I	probably damaging	Het
Pomgnt2	A	T	9: 121,811,354 (GRCm39)	W476R	probably benign	Het
Psg23	T	A	7: 18,348,703 (GRCm39)	S35C	possibly damaging	Het
Pycr3	T	A	15: 75,791,144 (GRCm39)		probably null	Het
Rab3gap1	T	C	1: 127,865,727 (GRCm39)	V764A	possibly damaging	Het
Rgs2	A	G	1: 143,877,960 (GRCm39)	F80S	probably damaging	Het
Sall1	A	G	8: 89,759,429 (GRCm39)	L225P	probably benign	Het
Setd3	A	G	12: 108,079,651 (GRCm39)	I284T	possibly damaging	Het
Slc4a9	C	T	18: 36,663,846 (GRCm39)	T290I	possibly damaging	Het
Tmem87b	T	C	2: 128,673,509 (GRCm39)	V251A	probably damaging	Het
Ube3b	T	C	5: 114,525,294 (GRCm39)	L39P	probably damaging	Het
Ubr2	C	A	17: 47,296,973 (GRCm39)	R269L	probably damaging	Het
Vrk2	A	T	11: 26,497,914 (GRCm39)	I90K	probably benign	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp984	A	T	4: 147,839,796 (GRCm39)	C352S	probably damaging	Het

Other mutations in Ifnlr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00817:Ifnlr1	APN	4	135,431,596 (GRCm39)	missense	probably benign	0.28
IGL01637:Ifnlr1	APN	4	135,413,856 (GRCm39)	missense	possibly damaging	0.63
IGL02090:Ifnlr1	APN	4	135,432,578 (GRCm39)	missense	probably benign	0.23
R0677:Ifnlr1	UTSW	4	135,432,945 (GRCm39)	missense	possibly damaging	0.78
R0723:Ifnlr1	UTSW	4	135,428,524 (GRCm39)	splice site	probably benign
R0762:Ifnlr1	UTSW	4	135,428,640 (GRCm39)	missense	possibly damaging	0.90
R1169:Ifnlr1	UTSW	4	135,432,419 (GRCm39)	missense	probably benign	0.00
R1303:Ifnlr1	UTSW	4	135,431,528 (GRCm39)	missense	possibly damaging	0.67
R1819:Ifnlr1	UTSW	4	135,413,834 (GRCm39)	start gained	probably benign
R1957:Ifnlr1	UTSW	4	135,413,881 (GRCm39)	missense	probably damaging	1.00
R2509:Ifnlr1	UTSW	4	135,432,559 (GRCm39)	missense	probably damaging	1.00
R2510:Ifnlr1	UTSW	4	135,432,559 (GRCm39)	missense	probably damaging	1.00
R2511:Ifnlr1	UTSW	4	135,432,559 (GRCm39)	missense	probably damaging	1.00
R3020:Ifnlr1	UTSW	4	135,433,041 (GRCm39)	small deletion	probably benign
R3944:Ifnlr1	UTSW	4	135,428,539 (GRCm39)	missense	probably damaging	1.00
R4495:Ifnlr1	UTSW	4	135,433,079 (GRCm39)	missense	probably damaging	0.98
R4804:Ifnlr1	UTSW	4	135,432,647 (GRCm39)	missense	possibly damaging	0.50
R4938:Ifnlr1	UTSW	4	135,432,593 (GRCm39)	missense	probably benign	0.35
R5070:Ifnlr1	UTSW	4	135,431,509 (GRCm39)	missense	probably benign	0.00
R5073:Ifnlr1	UTSW	4	135,432,457 (GRCm39)	missense	probably benign	0.06
R5493:Ifnlr1	UTSW	4	135,432,877 (GRCm39)	missense	probably benign	0.25
R5913:Ifnlr1	UTSW	4	135,432,581 (GRCm39)	missense	probably damaging	1.00
R5913:Ifnlr1	UTSW	4	135,432,580 (GRCm39)	missense	probably damaging	1.00
R5959:Ifnlr1	UTSW	4	135,432,652 (GRCm39)	missense	possibly damaging	0.94
R6032:Ifnlr1	UTSW	4	135,432,937 (GRCm39)	missense	probably benign	0.03
R6032:Ifnlr1	UTSW	4	135,432,937 (GRCm39)	missense	probably benign	0.03
R6136:Ifnlr1	UTSW	4	135,431,108 (GRCm39)	missense	possibly damaging	0.92
R7018:Ifnlr1	UTSW	4	135,431,135 (GRCm39)	missense	possibly damaging	0.77
R7651:Ifnlr1	UTSW	4	135,417,919 (GRCm39)	missense	possibly damaging	0.66
R8945:Ifnlr1	UTSW	4	135,431,609 (GRCm39)	missense	probably damaging	1.00
R8976:Ifnlr1	UTSW	4	135,428,650 (GRCm39)	missense	probably damaging	1.00
R9188:Ifnlr1	UTSW	4	135,426,171 (GRCm39)	missense	probably damaging	1.00
R9427:Ifnlr1	UTSW	4	135,426,142 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACTGACTTTCTGCTGGGTC -3'
(R):5'- AGTCTCTGATCACAGCTCTGTC -3'

Sequencing Primer
(F):5'- TCTGCTGGGTCAACAATCCTGAG -3'
(R):5'- TCACAGGTCACCTATAGCTGGTG -3'

Posted On

2014-08-25