Incidental Mutation 'R6348:Il36rn'
ID 514431
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 044502-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6348 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 24166966-24172444 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 24169726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 29 (A29T)
Ref Sequence ENSEMBL: ENSMUSP00000126028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028360] [ENSMUST00000114490] [ENSMUST00000123053] [ENSMUST00000147885] [ENSMUST00000168941]
AlphaFold Q9QYY1
Predicted Effect probably damaging
Transcript: ENSMUST00000028360
AA Change: A29T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028360
Gene: ENSMUSG00000026983
AA Change: A29T

DomainStartEndE-ValueType
IL1 5 153 7.96e-32 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114490
AA Change: A29T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110134
Gene: ENSMUSG00000026983
AA Change: A29T

DomainStartEndE-ValueType
IL1 5 153 7.96e-32 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000123053
AA Change: A29T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116122
Gene: ENSMUSG00000026983
AA Change: A29T

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: A29T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000141512
Gene: ENSMUSG00000026983
AA Change: A29T

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: A29T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126028
Gene: ENSMUSG00000026983
AA Change: A29T

DomainStartEndE-ValueType
IL1 5 153 7.96e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195464
Meta Mutation Damage Score 0.2738 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (37/37)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox5 A T 6: 116,391,556 (GRCm39) H400Q probably damaging Het
Arhgef16 G T 4: 154,371,540 (GRCm39) Q218K probably benign Het
Asxl3 A T 18: 22,650,330 (GRCm39) H773L possibly damaging Het
Atic C T 1: 71,615,857 (GRCm39) R468W probably damaging Het
Bfsp2 A T 9: 103,357,271 (GRCm39) V52D probably benign Het
Bicd2 A G 13: 49,533,322 (GRCm39) H636R probably damaging Het
Chac2 A G 11: 30,927,406 (GRCm39) V171A probably damaging Het
Chd9 A G 8: 91,737,903 (GRCm39) I1512V possibly damaging Het
Cnbd1 T C 4: 18,860,462 (GRCm39) D428G probably damaging Het
Crlf1 T C 8: 70,945,990 (GRCm39) S22P probably benign Het
Crybg1 A G 10: 43,879,947 (GRCm39) F414L probably damaging Het
Dnah14 A T 1: 181,454,285 (GRCm39) D765V possibly damaging Het
Fat3 A G 9: 15,849,287 (GRCm39) probably null Het
Gabbr1 A T 17: 37,367,791 (GRCm39) M414L possibly damaging Het
Grip2 A T 6: 91,757,419 (GRCm39) D412E probably damaging Het
Herc1 G A 9: 66,395,258 (GRCm39) A4198T possibly damaging Het
Hsd3b3 C T 3: 98,663,265 (GRCm39) probably null Het
Ifi213 G A 1: 173,417,848 (GRCm39) T188I possibly damaging Het
Klk1b11 T C 7: 43,647,275 (GRCm39) probably null Het
Mepce A T 5: 137,783,698 (GRCm39) D209E possibly damaging Het
Mtr A C 13: 12,262,840 (GRCm39) V111G possibly damaging Het
Mtrex T A 13: 113,047,451 (GRCm39) H298L possibly damaging Het
Or2h1b A G 17: 37,462,497 (GRCm39) V122A probably damaging Het
Or8k24 T A 2: 86,216,513 (GRCm39) Q83L probably benign Het
Or9k2b A T 10: 130,016,166 (GRCm39) N194K probably benign Het
P2rx1 G A 11: 72,890,148 (GRCm39) R3Q probably benign Het
Phc2 G A 4: 128,598,944 (GRCm39) G34S probably benign Het
Poglut3 G A 9: 53,301,740 (GRCm39) V131M probably damaging Het
Ppm1a A G 12: 72,837,449 (GRCm39) H332R probably benign Het
Sdk2 A G 11: 113,784,334 (GRCm39) V135A probably benign Het
Slc2a4 T C 11: 69,835,848 (GRCm39) T334A probably benign Het
Slc6a15 T G 10: 103,240,228 (GRCm39) V317G probably damaging Het
Speer2 T C 16: 69,654,895 (GRCm39) D190G possibly damaging Het
Tbc1d21 G A 9: 58,268,501 (GRCm39) A286V probably benign Het
Tmem210 T C 2: 25,178,796 (GRCm39) S82P probably benign Het
Top6bl G C 19: 4,722,106 (GRCm39) P105A probably damaging Het
Zbtb26 C T 2: 37,325,687 (GRCm39) V450M probably benign Het
Other mutations in Il36rn
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2004:Il36rn UTSW 2 24,171,376 (GRCm39) missense probably damaging 1.00
R2162:Il36rn UTSW 2 24,169,692 (GRCm39) missense probably damaging 0.98
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
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'- CCAAAAGTTGCATGACTGTGTC -3'
(R):5'- CTACACAGAGGCTGCATTGG -3'

Sequencing Primer
(F):5'- AAAGTTGCATGACTGTGTCTGTCAC -3'
(R):5'- GGGTCTACACTTTGTTTAAAGCC -3'
Posted On 2018-04-27