Incidental Mutation 'R2162:Il36rn'
ID 235185
Institutional Source Beutler Lab
Gene Symbol Il36rn
Ensembl Gene ENSMUSG00000026983
Gene Name interleukin 36 receptor antagonist
Synonyms IL1HY1, FIL1delta, Il1f5, If36rn, IL1F5, IL-1H3
MMRRC Submission 040165-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2162 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 24166966-24172444 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 24169692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 17 (L17F)
Ref Sequence ENSEMBL: ENSMUSP00000116122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028360] [ENSMUST00000114490] [ENSMUST00000123053] [ENSMUST00000147885] [ENSMUST00000168941]
AlphaFold Q9QYY1
Predicted Effect probably damaging
Transcript: ENSMUST00000028360
AA Change: L17F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028360
Gene: ENSMUSG00000026983
AA Change: L17F

DomainStartEndE-ValueType
IL1 5 153 7.96e-32 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114490
AA Change: L17F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110134
Gene: ENSMUSG00000026983
AA Change: L17F

DomainStartEndE-ValueType
IL1 5 153 7.96e-32 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000123053
AA Change: L17F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116122
Gene: ENSMUSG00000026983
AA Change: L17F

DomainStartEndE-ValueType
PDB:1MD6|A 3 72 5e-45 PDB
Blast:IL1 5 72 1e-42 BLAST
SCOP:d1ilr1_ 10 71 1e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123577
Predicted Effect probably damaging
Transcript: ENSMUST00000147885
AA Change: L17F

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141512
Gene: ENSMUSG00000026983
AA Change: L17F

DomainStartEndE-ValueType
PDB:1MD6|A 3 82 2e-52 PDB
Blast:IL1 5 82 3e-50 BLAST
SCOP:d1ilr1_ 10 82 2e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000168941
AA Change: L17F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126028
Gene: ENSMUSG00000026983
AA Change: L17F

DomainStartEndE-ValueType
IL1 5 153 7.96e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195464
Meta Mutation Damage Score 0.2812 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (55/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine was shown to specifically inhibit the activation of NF-kappaB induced by interleukin 1 family, member 6 (IL1F6). This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a reporter allele are overtly normal with no apparent histopathological abnormalities or immune cell alterations. Mice homozygous for a knock-out allele exhibit increased sensitivity to IMQ-induced psoriasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A C 15: 94,229,339 (GRCm39) C927G probably damaging Het
Afdn T A 17: 14,116,436 (GRCm39) D190E probably benign Het
Ankrd28 T C 14: 31,430,719 (GRCm39) D850G probably damaging Het
Arhgap45 T C 10: 79,852,813 (GRCm39) M1T probably null Het
Atp6v0a4 T G 6: 38,065,581 (GRCm39) K128N possibly damaging Het
Bcat1 T A 6: 144,955,834 (GRCm39) D349V probably damaging Het
Cacna1i T C 15: 80,240,388 (GRCm39) F370S probably damaging Het
Clca4b T C 3: 144,634,348 (GRCm39) I82V probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyfip2 T C 11: 46,152,333 (GRCm39) D485G probably benign Het
Cyp27b1 G T 10: 126,886,929 (GRCm39) V382L probably damaging Het
Dnaaf5 T C 5: 139,167,320 (GRCm39) V447A possibly damaging Het
Dpp9 A T 17: 56,506,113 (GRCm39) F429I possibly damaging Het
Eng C T 2: 32,569,059 (GRCm39) R528C probably damaging Het
Gcn1 A T 5: 115,730,191 (GRCm39) Q835L probably benign Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Hlx T A 1: 184,462,889 (GRCm39) probably null Het
Htt T A 5: 34,979,062 (GRCm39) V815D probably benign Het
Itga1 C T 13: 115,167,446 (GRCm39) V157I probably benign Het
Krtap19-3 T G 16: 88,674,607 (GRCm39) *88C probably null Het
Lzic G C 4: 149,573,185 (GRCm39) E112D probably null Het
Mark2 G C 19: 7,260,112 (GRCm39) S111C probably damaging Het
Mep1b C T 18: 21,219,296 (GRCm39) T150I possibly damaging Het
Mroh7 G C 4: 106,557,378 (GRCm39) S777R probably damaging Het
Nrxn1 G A 17: 90,469,859 (GRCm39) R35C probably damaging Het
Or12e10 T A 2: 87,640,704 (GRCm39) I180K probably damaging Het
Or51v8 T G 7: 103,320,079 (GRCm39) Q53P possibly damaging Het
Or5p69 C A 7: 107,966,769 (GRCm39) P24Q probably benign Het
Pacs2 A G 12: 113,014,567 (GRCm39) T243A probably benign Het
Pan2 A G 10: 128,140,091 (GRCm39) E4G possibly damaging Het
Pdp1 A G 4: 11,961,123 (GRCm39) V396A probably damaging Het
Pdzd7 A G 19: 45,024,494 (GRCm39) probably null Het
Peg10 T A 6: 4,755,914 (GRCm39) probably benign Het
Pgc C A 17: 48,040,236 (GRCm39) F93L probably null Het
Piezo2 A G 18: 63,214,733 (GRCm39) probably null Het
Pja2 T C 17: 64,616,397 (GRCm39) D166G probably benign Het
Ppp1r9b T C 11: 94,888,877 (GRCm39) L97P probably damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
S100a10 T C 3: 93,471,680 (GRCm39) V88A probably damaging Het
Scn9a T A 2: 66,364,573 (GRCm39) Y789F probably damaging Het
Slit3 A T 11: 35,579,509 (GRCm39) S1229C probably null Het
Spata31g1 A G 4: 42,972,238 (GRCm39) T524A possibly damaging Het
Sptan1 T C 2: 29,908,588 (GRCm39) probably benign Het
Srrd G T 5: 112,490,810 (GRCm39) probably benign Het
Tdrd3 A G 14: 87,718,221 (GRCm39) T201A probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Ttll4 A G 1: 74,725,550 (GRCm39) K653E probably damaging Het
Usp43 A G 11: 67,770,795 (GRCm39) L613P probably damaging Het
Vmn1r167 T C 7: 23,204,224 (GRCm39) D264G possibly damaging Het
Whamm A G 7: 81,221,089 (GRCm39) D7G probably damaging Het
Zcchc17 T C 4: 130,232,317 (GRCm39) D62G probably benign Het
Zfp280d T A 9: 72,206,104 (GRCm39) I62K probably damaging Het
Zfp445 T G 9: 122,681,541 (GRCm39) E800A probably damaging Het
Zfp516 A G 18: 83,005,063 (GRCm39) R656G possibly damaging Het
Other mutations in Il36rn
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2004:Il36rn UTSW 2 24,171,376 (GRCm39) missense probably damaging 1.00
R2190:Il36rn UTSW 2 24,170,831 (GRCm39) missense probably damaging 1.00
R3737:Il36rn UTSW 2 24,171,215 (GRCm39) missense probably damaging 1.00
R4740:Il36rn UTSW 2 24,167,503 (GRCm39) utr 5 prime probably benign
R4867:Il36rn UTSW 2 24,170,847 (GRCm39) missense probably damaging 1.00
R5908:Il36rn UTSW 2 24,167,502 (GRCm39) start gained probably benign
R6218:Il36rn UTSW 2 24,167,502 (GRCm39) start gained probably benign
R6347:Il36rn UTSW 2 24,169,726 (GRCm39) missense probably damaging 1.00
R6348:Il36rn UTSW 2 24,169,726 (GRCm39) missense probably damaging 1.00
R6407:Il36rn UTSW 2 24,171,365 (GRCm39) missense probably damaging 1.00
R7067:Il36rn UTSW 2 24,167,541 (GRCm39) nonsense probably null
R7403:Il36rn UTSW 2 24,171,214 (GRCm39) missense probably damaging 1.00
R7477:Il36rn UTSW 2 24,169,704 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AATCTTGCAGTGTGAGGACC -3'
(R):5'- CTGCATTGGGGTCTACACTTTG -3'

Sequencing Primer
(F):5'- GACCAAAAGTTGCATGACTGTGTC -3'
(R):5'- AAAGCCTGTTTGGTGACTCC -3'
Posted On 2014-10-01