Incidental Mutation 'R4938:Ifnlr1'
ID 382833
Institutional Source Beutler Lab
Gene Symbol Ifnlr1
Ensembl Gene ENSMUSG00000062157
Gene Name interferon lambda receptor 1
Synonyms IFNLR1, Il28ra, CRF2-12
MMRRC Submission 042537-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4938 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 135413598-135435492 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135432593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 343 (E343G)
Ref Sequence ENSEMBL: ENSMUSP00000074009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074408]
AlphaFold Q8CGK5
Predicted Effect probably benign
Transcript: ENSMUST00000074408
AA Change: E343G

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000074009
Gene: ENSMUSG00000062157
AA Change: E343G

DomainStartEndE-ValueType
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 0.1239 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 99% (74/75)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl14ep G T 2: 106,799,663 (GRCm39) H59Q probably damaging Het
Atp6v0a4 T A 6: 38,055,749 (GRCm39) I321F possibly damaging Het
Cdr2l A G 11: 115,284,651 (GRCm39) D329G possibly damaging Het
Cep55 A G 19: 38,058,364 (GRCm39) E319G probably damaging Het
Cfhr2 C T 1: 139,741,265 (GRCm39) V237I probably benign Het
Clasrp A G 7: 19,318,703 (GRCm39) probably null Het
Col12a1 C A 9: 79,607,632 (GRCm39) E399* probably null Het
Cyp19a1 T A 9: 54,080,647 (GRCm39) I237F probably benign Het
Dnajc6 T G 4: 101,494,010 (GRCm39) N847K probably damaging Het
E330013P04Rik C G 19: 60,150,453 (GRCm39) noncoding transcript Het
Entpd2 A G 2: 25,289,429 (GRCm39) T304A probably benign Het
Etl4 A G 2: 20,803,460 (GRCm39) T779A probably benign Het
Fam107b A T 2: 3,773,907 (GRCm39) I35L probably benign Het
Fgg A T 3: 82,920,175 (GRCm39) Y318F probably benign Het
Fitm1 A C 14: 55,814,076 (GRCm39) T191P probably damaging Het
Fras1 A G 5: 96,924,583 (GRCm39) M3675V probably damaging Het
Fry C T 5: 150,401,454 (GRCm39) R731W probably damaging Het
Galnt17 A T 5: 131,335,237 (GRCm39) S68T probably benign Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Grm1 C T 10: 10,812,257 (GRCm39) A256T probably damaging Het
Hoxd13 A G 2: 74,499,027 (GRCm39) Y125C probably benign Het
Hspa14 A T 2: 3,492,646 (GRCm39) I373K probably benign Het
Ighv5-9 A G 12: 113,625,582 (GRCm39) S54P probably benign Het
Insyn2b G A 11: 34,352,231 (GRCm39) G91E probably damaging Het
Irf2bpl A G 12: 86,928,892 (GRCm39) S594P possibly damaging Het
Kcnq2 A G 2: 180,728,766 (GRCm39) S548P probably damaging Het
Lrp2 G A 2: 69,302,712 (GRCm39) R3006W probably damaging Het
Lrrc4c A T 2: 97,459,646 (GRCm39) I91F probably damaging Het
Mdh1b T C 1: 63,750,663 (GRCm39) D435G probably benign Het
Mettl3 A T 14: 52,537,184 (GRCm39) S182T probably damaging Het
Mllt6 A G 11: 97,569,233 (GRCm39) T862A probably benign Het
Mmp27 G T 9: 7,578,983 (GRCm39) R412I probably damaging Het
Mstn A G 1: 53,105,582 (GRCm39) N308S possibly damaging Het
Ncapg A G 5: 45,828,551 (GRCm39) T101A probably benign Het
Ngf C T 3: 102,427,790 (GRCm39) R180W probably damaging Het
Notch1 G A 2: 26,364,136 (GRCm39) Q862* probably null Het
Nsrp1 T C 11: 76,936,570 (GRCm39) D542G probably damaging Het
Nup214 C A 2: 31,873,171 (GRCm39) T255K probably benign Het
Or5b21 T A 19: 12,839,916 (GRCm39) M259K probably damaging Het
Or8b43 T A 9: 38,360,679 (GRCm39) D170E probably benign Het
Papln C T 12: 83,829,677 (GRCm39) P911S probably benign Het
Pdxdc1 A G 16: 13,693,933 (GRCm39) V163A probably benign Het
Plekhj1 A T 10: 80,633,609 (GRCm39) I76N probably damaging Het
Pnp2 A G 14: 51,201,025 (GRCm39) probably null Het
Polr3gl T C 3: 96,487,208 (GRCm39) E89G probably benign Het
Polrmt A G 10: 79,582,385 (GRCm39) M1T probably null Het
Prss37 A G 6: 40,491,917 (GRCm39) I221T possibly damaging Het
Ptx4 C T 17: 25,342,139 (GRCm39) Q205* probably null Het
Qsox1 T C 1: 155,655,414 (GRCm39) E583G probably benign Het
Riok3 T A 18: 12,288,300 (GRCm39) N492K probably benign Het
Sec13 A G 6: 113,712,153 (GRCm39) W61R probably damaging Het
Slc20a2 T C 8: 23,051,221 (GRCm39) V418A possibly damaging Het
Smad9 G A 3: 54,696,651 (GRCm39) V239I probably benign Het
Stmn2 A G 3: 8,610,792 (GRCm39) E92G probably damaging Het
Taf1c A G 8: 120,325,537 (GRCm39) V775A probably benign Het
Thsd7a T A 6: 12,330,991 (GRCm39) I1384L probably benign Het
Tnxb A G 17: 34,932,606 (GRCm39) Y2275C probably damaging Het
Trmo G T 4: 46,382,388 (GRCm39) T243N probably benign Het
Tyrp1 C T 4: 80,758,883 (GRCm39) A252V probably damaging Het
Vasp T C 7: 18,991,642 (GRCm39) *376W probably null Het
Vmn1r231 T C 17: 21,110,613 (GRCm39) I101V possibly damaging Het
Zfp532 T C 18: 65,756,837 (GRCm39) S257P probably benign Het
Zfp563 G A 17: 33,324,683 (GRCm39) C426Y probably damaging Het
Zfp647 TGCACG TGCACGCACG 15: 76,795,244 (GRCm39) probably null Het
Zfp703 C A 8: 27,469,801 (GRCm39) H488Q probably damaging Het
Zfp964 A G 8: 70,116,758 (GRCm39) N452D possibly damaging Het
Zfyve28 A C 5: 34,390,698 (GRCm39) Y188D probably damaging Het
Other mutations in Ifnlr1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ATACCCAGTGGCAACCTTTCAG -3'
(R):5'- TGGAAGACCCAACTTCATCC -3'

Sequencing Primer
(F):5'- AACCTTTCAGCCCAGTGG -3'
(R):5'- GACCCAACTTCATCCTTATATGAGG -3'
Posted On 2016-04-27