Mutagenetix > Incidental Mutation

Incidental Mutation 'R8945:Ifnlr1'

681227

Institutional Source

Beutler Lab

Gene Symbol

Ifnlr1

Ensembl Gene

ENSMUSG00000062157

Gene Name

interferon lambda receptor 1

Synonyms

IFNLR1, Il28ra, CRF2-12

MMRRC Submission

068713-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8945 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135413598-135435492 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 135431609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 266 (L266R)

Ref Sequence

ENSEMBL: ENSMUSP00000074009 (fasta)

Gene Model

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

AlphaFold

Q8CGK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000074408
AA Change: L266R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074009
Gene: ENSMUSG00000062157
AA Change: L266R

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: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (57/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aopep	G	T	13: 63,388,145 (GRCm39)	K709N	probably null	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Atp6v0a2	G	T	5: 124,784,589 (GRCm39)	A291S	probably damaging	Het
Bcl9l	G	T	9: 44,412,238 (GRCm39)	V38L	possibly damaging	Het
Bmp1	T	C	14: 70,727,630 (GRCm39)	Y651C	probably damaging	Het
Btnl9	T	C	11: 49,065,661 (GRCm39)	E398G	probably benign	Het
C2cd3	A	T	7: 100,040,286 (GRCm39)	N285I	possibly damaging	Het
Cavin1	T	C	11: 100,849,659 (GRCm39)	T324A	probably damaging	Het
Ccdc73	A	G	2: 104,821,712 (GRCm39)	T554A	probably benign	Het
Clcn1	A	T	6: 42,263,701 (GRCm39)	M1L	possibly damaging	Het
Clec18a	A	T	8: 111,808,201 (GRCm39)	S77T	possibly damaging	Het
Dhx32	A	G	7: 133,323,876 (GRCm39)		probably null	Het
Dmxl1	C	G	18: 50,072,639 (GRCm39)	N2744K	probably damaging	Het
Dnah10	A	C	5: 124,891,006 (GRCm39)	E3199A	probably damaging	Het
Dnah11	G	T	12: 117,987,718 (GRCm39)	L2395I	probably benign	Het
Dthd1	A	T	5: 63,007,096 (GRCm39)	Y599F	probably benign	Het
Dusp26	G	A	8: 31,586,367 (GRCm39)	R196K	unknown	Het
Dyrk1a	A	G	16: 94,466,866 (GRCm39)	Y140C	probably damaging	Het
Elmo1	T	A	13: 20,766,438 (GRCm39)	Y588*	probably null	Het
Eml6	T	A	11: 29,703,110 (GRCm39)	T1603S	probably damaging	Het
Fam162b	T	C	10: 51,466,469 (GRCm39)	T17A	probably benign	Het
Fnbp1	T	A	2: 30,995,346 (GRCm39)	K29N	probably damaging	Het
Fzd4	A	T	7: 89,056,792 (GRCm39)	I280L	possibly damaging	Het
G3bp2	G	A	5: 92,216,281 (GRCm39)	T85I	probably damaging	Het
Gm13283	C	T	4: 88,679,123 (GRCm39)	A38V	probably benign	Het
Hps3	T	A	3: 20,068,224 (GRCm39)	H610L	probably damaging	Het
Jak1	A	T	4: 101,020,109 (GRCm39)	D683E	probably benign	Het
Lrrc1	G	A	9: 77,342,373 (GRCm39)	T412M	probably damaging	Het
Mdga1	G	T	17: 30,058,959 (GRCm39)		probably benign	Het
Med26	T	C	8: 73,250,934 (GRCm39)	K55R	probably benign	Het
Mturn	C	A	6: 54,666,017 (GRCm39)	C63*	probably null	Het
Myo1h	A	C	5: 114,470,784 (GRCm39)	D381A	probably damaging	Het
Nectin1	A	G	9: 43,703,237 (GRCm39)	D165G	probably benign	Het
Nktr	T	A	9: 121,575,558 (GRCm39)	D330E	possibly damaging	Het
Oprm1	A	T	10: 6,782,644 (GRCm39)		probably benign	Het
Papola	T	A	12: 105,775,946 (GRCm39)		probably benign	Het
Pdcl2	A	T	5: 76,465,675 (GRCm39)	C134S	probably damaging	Het
Plch1	T	C	3: 63,639,039 (GRCm39)	Y478C	probably benign	Het
Rev1	A	T	1: 38,122,824 (GRCm39)	W465R	probably damaging	Het
Rp1	T	A	1: 4,419,817 (GRCm39)	I432F	probably benign	Het
Samd14	A	C	11: 94,912,027 (GRCm39)	D168A	probably damaging	Het
Sdk1	G	T	5: 141,598,935 (GRCm39)	C200F	probably benign	Het
Spmip2	A	G	3: 79,252,812 (GRCm39)	H9R	probably benign	Het
Spsb1	T	C	4: 149,991,475 (GRCm39)	Y31C	possibly damaging	Het
Spz1	T	C	13: 92,711,499 (GRCm39)	K326E	possibly damaging	Het
Tcaf1	C	T	6: 42,663,307 (GRCm39)	S191N	probably benign	Het
Tex15	A	G	8: 34,064,724 (GRCm39)	S1385G	probably benign	Het
Tmem38a	C	T	8: 73,338,570 (GRCm39)	A194V	probably damaging	Het
Trappc9	T	C	15: 72,929,945 (GRCm39)	N137S	probably benign	Het
Tshr	T	C	12: 91,504,997 (GRCm39)	L645P	probably damaging	Het
Tspyl4	T	A	10: 34,173,461 (GRCm39)		probably benign	Het
Unc13a	T	A	8: 72,100,597 (GRCm39)	I1064F	probably damaging	Het
Utp20	G	A	10: 88,628,532 (GRCm39)	Q921*	probably null	Het
Vps13a	A	T	19: 16,642,114 (GRCm39)	I2171N	probably damaging	Het
Zfp40	A	G	17: 23,401,201 (GRCm39)	V14A	probably benign	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
R2041:Ifnlr1	UTSW	4	135,433,148 (GRCm39)	missense	possibly damaging	0.51
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
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'- ATTCTCCTGGGATTGAGCAGG -3'
(R):5'- TGGGGCTAAAGGTATCCACC -3'

Sequencing Primer
(F):5'- ATTGAGCAGGACTGTCACC -3'
(R):5'- TATCCACCCCCTGAAGTGG -3'

Posted On

2021-08-31