Incidental Mutation 'R6347:Il36rn'
ID 520047
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 044501-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6347 (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: 97.6%
  • 20x: 92.3%
Validation Efficiency 95% (41/43)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atat1 A G 17: 36,220,921 (GRCm39) F3L probably damaging Het
Atf7 T A 15: 102,454,914 (GRCm39) M285L possibly damaging Het
Bcl7b T C 5: 135,209,387 (GRCm39) S95P possibly damaging Het
Cald1 A C 6: 34,741,981 (GRCm39) K453Q probably damaging Het
Cimip1 G T 2: 173,369,708 (GRCm39) R74L possibly damaging Het
Cog4 A T 8: 111,607,275 (GRCm39) I580F probably damaging Het
Cpq T A 15: 33,290,332 (GRCm39) probably null Het
Csf2rb G A 15: 78,229,752 (GRCm39) D440N probably damaging Het
Dst A G 1: 34,218,765 (GRCm39) probably null Het
Eif2b3 T C 4: 116,901,763 (GRCm39) V142A probably benign Het
Fat3 A T 9: 15,909,668 (GRCm39) N2111K probably damaging Het
Fbxo31 C A 8: 122,305,198 (GRCm39) E99D possibly damaging Het
Fgfr2 T C 7: 129,863,487 (GRCm39) E34G probably damaging Het
Flvcr2 T C 12: 85,794,194 (GRCm39) V190A possibly damaging Het
Herc2 T C 7: 55,844,151 (GRCm39) probably null Het
Igkv3-2 A C 6: 70,676,017 (GRCm39) M109L probably benign Het
Kif13b C T 14: 65,005,068 (GRCm39) T1120I probably benign Het
Kmt2c A G 5: 25,515,833 (GRCm39) I2670T possibly damaging Het
Lcp2 A G 11: 34,032,501 (GRCm39) M360V probably benign Het
Ldlrad4 A G 18: 68,368,851 (GRCm39) S103G probably benign Het
Loxl4 T C 19: 42,596,709 (GRCm39) K88E probably damaging Het
Ltbp2 C A 12: 84,900,686 (GRCm39) R192L probably damaging Het
Mast2 C A 4: 116,174,929 (GRCm39) G475V probably damaging Het
Meis1 A C 11: 18,855,631 (GRCm39) probably null Het
Mroh3 T C 1: 136,128,675 (GRCm39) probably null Het
Myo5b C T 18: 74,903,456 (GRCm39) A1824V probably benign Het
Nectin3 C T 16: 46,278,487 (GRCm39) V303M probably benign Het
Or5p52 T C 7: 107,502,157 (GRCm39) S78P possibly damaging Het
Peak1 T C 9: 56,165,495 (GRCm39) N811S probably benign Het
Pik3ca C T 3: 32,516,970 (GRCm39) A1066V probably benign Het
Rnf103 A G 6: 71,482,808 (GRCm39) T153A possibly damaging Het
Sacs G A 14: 61,448,609 (GRCm39) V3552I probably damaging Het
Sgca A T 11: 94,862,854 (GRCm39) N109K probably damaging Het
Speg T A 1: 75,403,519 (GRCm39) M2621K probably benign Het
Stfa2l1 T C 16: 35,977,271 (GRCm39) I22T probably damaging Het
Tbpl2 G A 2: 23,984,715 (GRCm39) P144L probably benign Het
Tmem219 T C 7: 126,495,998 (GRCm39) N119S possibly damaging Het
Ush2a A G 1: 188,643,084 (GRCm39) T4149A probably benign Het
Wdr46 C A 17: 34,160,826 (GRCm39) P197T probably damaging Het
Wee2 C T 6: 40,432,039 (GRCm39) R203C probably damaging 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
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'- CCAAAAGTTGCATGACTGTGTC -3'
(R):5'- CTACACAGAGGCTGCATTGG -3'

Sequencing Primer
(F):5'- AAAGTTGCATGACTGTGTCTGTCAC -3'
(R):5'- GGGTCTACACTTTGTTTAAAGCC -3'
Posted On 2018-06-06