Incidental Mutation 'R5493:Ifnlr1'
ID 484498
Institutional Source Beutler Lab
Gene Symbol Ifnlr1
Ensembl Gene ENSMUSG00000062157
Gene Name interferon lambda receptor 1
Synonyms IFNLR1, Il28ra, CRF2-12
MMRRC Submission 043054-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5493 (G1)
Quality Score 51
Status Validated
Chromosome 4
Chromosomal Location 135413598-135435492 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 135432877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 438 (V438M)
Ref Sequence ENSEMBL: ENSMUSP00000074009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074408]
AlphaFold Q8CGK5
Predicted Effect probably benign
Transcript: ENSMUST00000074408
AA Change: V438M

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000074009
Gene: ENSMUSG00000062157
AA Change: V438M

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 0.0898 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.4%
Validation Efficiency 99% (80/81)
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
2510009E07Rik A G 16: 21,471,993 (GRCm39) S236P possibly damaging Het
A830018L16Rik C T 1: 11,615,431 (GRCm39) R135C probably damaging Het
Agpat3 A G 10: 78,120,069 (GRCm39) V155A possibly damaging Het
Aldh18a1 C T 19: 40,539,734 (GRCm39) R747Q probably damaging Het
Aloxe3 A T 11: 69,019,443 (GRCm39) R119* probably null Het
Asap1 A G 15: 64,002,000 (GRCm39) V460A possibly damaging Het
Bicral C A 17: 47,112,620 (GRCm39) R860L possibly damaging Het
Cd180 T A 13: 102,842,649 (GRCm39) I565N probably benign Het
Cdk13 T C 13: 17,978,147 (GRCm39) probably benign Het
Cdkn2d T C 9: 21,200,303 (GRCm39) D156G probably benign Het
Clrn1 A G 3: 58,753,837 (GRCm39) S175P probably damaging Het
Coro7 A G 16: 4,450,351 (GRCm39) L535S probably damaging Het
Cse1l A G 2: 166,783,110 (GRCm39) probably benign Het
Cyp2a12 T C 7: 26,728,550 (GRCm39) L7P unknown Het
D130043K22Rik A G 13: 25,047,586 (GRCm39) Y377C probably damaging Het
Dctn1 G T 6: 83,159,546 (GRCm39) R8L possibly damaging Het
Duox2 T C 2: 122,111,977 (GRCm39) Q1341R probably damaging Het
Eif2b3 A G 4: 116,943,919 (GRCm39) D447G possibly damaging Het
Eif4a3l1 C G 6: 136,306,555 (GRCm39) R339G probably damaging Het
Fbxw25 T C 9: 109,481,984 (GRCm39) Y234C probably benign Het
Gcnt2 A G 13: 41,107,076 (GRCm39) N315S possibly damaging Het
Gm20730 A T 6: 43,058,746 (GRCm39) V22E possibly damaging Het
Gm4847 T A 1: 166,457,890 (GRCm39) I488F probably damaging Het
Gmds A T 13: 32,124,488 (GRCm39) M290K probably benign Het
Gtf3c1 T C 7: 125,269,716 (GRCm39) N699S probably damaging Het
Hk3 A G 13: 55,158,984 (GRCm39) V479A probably damaging Het
Il12rb1 C A 8: 71,262,483 (GRCm39) P26T probably benign Het
Il4i1 G T 7: 44,489,477 (GRCm39) R414L possibly damaging Het
Ipo4 T C 14: 55,868,327 (GRCm39) N490S probably benign Het
Kcnmb2 A G 3: 32,252,291 (GRCm39) E164G probably damaging Het
Kcns1 G A 2: 164,009,899 (GRCm39) L287F probably benign Het
Kdm1a ACC AC 4: 136,284,732 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Knl1 T A 2: 118,899,211 (GRCm39) I304K probably damaging Het
Ksr2 G T 5: 117,846,175 (GRCm39) V681F probably damaging Het
Lypd2 T C 15: 74,606,127 (GRCm39) T4A probably benign Het
Man1a A G 10: 53,950,576 (GRCm39) V182A probably benign Het
Or12j4 A T 7: 140,046,720 (GRCm39) D202V probably damaging Het
Or13e8 A G 4: 43,696,225 (GRCm39) F316S possibly damaging Het
Or2w2 A T 13: 21,758,042 (GRCm39) C195S probably damaging Het
Or51f5 A T 7: 102,424,315 (GRCm39) R195W probably benign Het
Or56b1b T C 7: 108,164,774 (GRCm39) D76G probably benign Het
Pcdha2 C A 18: 37,072,562 (GRCm39) F64L probably damaging Het
Pgap3 G C 11: 98,281,540 (GRCm39) F168L possibly damaging Het
Pip5k1b T C 19: 24,416,439 (GRCm39) N16S probably benign Het
Ppip5k1 T A 2: 121,167,253 (GRCm39) H41L probably damaging Het
Ppp1r9a A G 6: 5,159,702 (GRCm39) R1080G probably damaging Het
Qrich2 A C 11: 116,336,774 (GRCm39) probably null Het
Rbl2 C T 8: 91,842,447 (GRCm39) P1034L probably damaging Het
Rbpjl GCC GC 2: 164,256,330 (GRCm39) probably null Het
Rin2 A G 2: 145,702,629 (GRCm39) S442G probably damaging Het
Rtca C T 3: 116,293,280 (GRCm39) R71Q probably benign Het
Serpind1 A T 16: 17,157,902 (GRCm39) N366I probably damaging Het
Shox2 C G 3: 66,888,796 (GRCm39) G32R probably damaging Het
Sp3 T A 2: 72,768,466 (GRCm39) N766Y probably damaging Het
Spag7 T A 11: 70,560,059 (GRCm39) S17C probably null Het
Stk25 A T 1: 93,563,031 (GRCm39) F7I probably benign Het
Tbx15 G A 3: 99,259,880 (GRCm39) G584S probably benign Het
Tenm2 T C 11: 36,755,503 (GRCm39) D165G probably benign Het
Tox2 C A 2: 163,046,649 (GRCm39) S42* probably null Het
Vmn1r39 A G 6: 66,781,754 (GRCm39) V188A probably damaging Het
Zbtb5 A T 4: 44,993,941 (GRCm39) M481K probably benign Het
Zfp26 T C 9: 20,355,615 (GRCm39) T56A possibly damaging Het
Zfp459 C A 13: 67,556,498 (GRCm39) C195F probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Zfp764 A G 7: 127,004,105 (GRCm39) I342T probably benign Het
Zfp942 T C 17: 22,151,985 (GRCm39) N7D probably null 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
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
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'- CATGGGACTCTTCAGACAGG -3'
(R):5'- AAGTAATCTCCCAGCATCCG -3'

Sequencing Primer
(F):5'- ACTCTTCAGACAGGAGCTGGTC -3'
(R):5'- GTCCTCTGCACGCTTGAAGTG -3'
Posted On 2017-07-24