Incidental Mutation 'R4867:Il36rn'
ID 376198
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 042477-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4867 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 24166966-24172444 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24170847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 48 (N48I)
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: N48I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028360
Gene: ENSMUSG00000026983
AA Change: N48I

DomainStartEndE-ValueType
IL1 5 153 7.96e-32 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114490
AA Change: N48I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110134
Gene: ENSMUSG00000026983
AA Change: N48I

DomainStartEndE-ValueType
IL1 5 153 7.96e-32 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000123053
AA Change: N48I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116122
Gene: ENSMUSG00000026983
AA Change: N48I

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 possibly damaging
Transcript: ENSMUST00000147885
AA Change: N48I

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141512
Gene: ENSMUSG00000026983
AA Change: N48I

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: N48I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126028
Gene: ENSMUSG00000026983
AA Change: N48I

DomainStartEndE-ValueType
IL1 5 153 7.96e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195464
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik T C 8: 125,366,099 (GRCm39) I215V probably damaging Het
4921509C19Rik A T 2: 151,314,742 (GRCm39) L312* probably null Het
9930111J21Rik1 T A 11: 48,839,375 (GRCm39) probably null Het
Abca6 C A 11: 110,093,205 (GRCm39) V1023F probably benign Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Acsbg2 A G 17: 57,169,914 (GRCm39) I151T possibly damaging Het
Arid1a G A 4: 133,448,168 (GRCm39) S115L probably benign Het
B4galnt2 T C 11: 95,759,252 (GRCm39) D344G probably damaging Het
Ccdc40 T C 11: 119,122,614 (GRCm39) S139P probably benign Het
Ccnjl T C 11: 43,474,055 (GRCm39) V210A possibly damaging Het
Cdk5rap1 C T 2: 154,212,876 (GRCm39) probably null Het
Cfhr4 A T 1: 139,702,213 (GRCm39) probably null Het
Cog4 T C 8: 111,593,242 (GRCm39) V451A probably damaging Het
Crb1 A T 1: 139,170,752 (GRCm39) N818K probably damaging Het
Crtc1 T C 8: 70,855,164 (GRCm39) D152G probably damaging Het
Cse1l T A 2: 166,768,323 (GRCm39) I207N possibly damaging Het
Cux1 TGGCAGGCGCG TG 5: 136,303,815 (GRCm39) probably benign Het
Cyp2j13 T C 4: 95,947,235 (GRCm39) Y272C possibly damaging Het
Cyp4f16 T C 17: 32,769,724 (GRCm39) F445L possibly damaging Het
Dlc1 T C 8: 37,051,799 (GRCm39) H644R probably benign Het
Ecm2 A T 13: 49,684,821 (GRCm39) I643F probably damaging Het
Eogt A T 6: 97,097,108 (GRCm39) probably benign Het
Fbxo41 A C 6: 85,452,176 (GRCm39) S777A probably benign Het
Fga T A 3: 82,935,951 (GRCm39) D59E probably benign Het
Flt3 A T 5: 147,271,250 (GRCm39) V897D probably damaging Het
Fmn1 G T 2: 113,414,465 (GRCm39) probably null Het
Frem3 T C 8: 81,339,912 (GRCm39) L735P probably damaging Het
Ftmt A T 18: 52,465,125 (GRCm39) D147V possibly damaging Het
Gabpa T A 16: 84,654,356 (GRCm39) D344E probably benign Het
Gtf3a C T 5: 146,888,723 (GRCm39) Q145* probably null Het
Iqca1 A G 1: 90,017,226 (GRCm39) L403S probably benign Het
Jrk C T 15: 74,579,069 (GRCm39) R72Q probably benign Het
Kif19a G A 11: 114,658,053 (GRCm39) M37I probably benign Het
Krt12 T C 11: 99,307,789 (GRCm39) D433G possibly damaging Het
Lce1h A T 3: 92,670,770 (GRCm39) S127R unknown Het
Lrrc7 T G 3: 157,866,642 (GRCm39) Y1033S probably damaging Het
Macf1 A G 4: 123,365,993 (GRCm39) S1358P probably damaging Het
Mfsd1 T A 3: 67,495,320 (GRCm39) probably null Het
Mki67 T C 7: 135,301,585 (GRCm39) T1150A probably damaging Het
Nadk2 A G 15: 9,098,946 (GRCm39) I291M possibly damaging Het
Or13g1 T C 7: 85,955,491 (GRCm39) T277A probably benign Het
Or1j12 A C 2: 36,343,211 (GRCm39) M205L probably benign Het
Or2r2 A G 6: 42,464,031 (GRCm39) V32A probably benign Het
Or6e1 T A 14: 54,520,086 (GRCm39) T89S probably benign Het
Or7g17 A T 9: 18,768,862 (GRCm39) I305F probably benign Het
Parp14 T A 16: 35,677,697 (GRCm39) Y757F probably benign Het
Pcdh18 T C 3: 49,709,113 (GRCm39) Y734C probably damaging Het
Pcnx4 T C 12: 72,620,726 (GRCm39) S849P probably benign Het
Pds5a T C 5: 65,801,463 (GRCm39) K595E probably damaging Het
Prkg2 T A 5: 99,172,568 (GRCm39) Y49F probably benign Het
Prr5 G T 15: 84,624,967 (GRCm39) L46F probably benign Het
Ptgdr G T 14: 45,096,253 (GRCm39) P153Q probably damaging Het
Rbm12b2 T C 4: 12,094,805 (GRCm39) S555P probably damaging Het
Rhog T G 7: 101,889,357 (GRCm39) Y32S probably damaging Het
Rnf141 T C 7: 110,415,975 (GRCm39) T209A probably damaging Het
Rtkn2 T C 10: 67,837,757 (GRCm39) I103T probably damaging Het
Scn5a G T 9: 119,379,737 (GRCm39) C182* probably null Het
Sema3a A G 5: 13,501,208 (GRCm39) N84D probably benign Het
Sema5a G T 15: 32,550,436 (GRCm39) M158I possibly damaging Het
Shprh T A 10: 11,040,301 (GRCm39) D71E probably benign Het
Slc26a8 A G 17: 28,882,608 (GRCm39) I239T probably benign Het
Slco4c1 G A 1: 96,768,953 (GRCm39) P303L probably damaging Het
Ston1 C T 17: 88,943,122 (GRCm39) A176V probably damaging Het
Sult2a5 T C 7: 13,357,976 (GRCm39) S3P probably benign Het
Tango6 T A 8: 107,545,158 (GRCm39) V1007E probably damaging Het
Tank G A 2: 61,408,979 (GRCm39) probably benign Het
Tas2r124 A G 6: 132,732,156 (GRCm39) Y155C probably damaging Het
Tenm3 G A 8: 48,688,856 (GRCm39) R2244W probably damaging Het
Thoc2l T C 5: 104,668,868 (GRCm39) I1130T possibly damaging Het
Tlk1 A T 2: 70,551,915 (GRCm39) Y585* probably null Het
Tmem221 C T 8: 72,007,784 (GRCm39) E214K probably benign Het
Tmem38a T C 8: 73,335,077 (GRCm39) V172A possibly damaging Het
Tspo2 C T 17: 48,755,705 (GRCm39) A146T possibly damaging Het
Ttc3 G A 16: 94,255,374 (GRCm39) A1268T probably damaging Het
Usp25 T A 16: 76,847,355 (GRCm39) D154E probably damaging Het
Usp34 T C 11: 23,401,999 (GRCm39) F2410L probably benign Het
Vmn1r128 T A 7: 21,083,939 (GRCm39) H214Q possibly damaging Het
Vmn1r24 A C 6: 57,933,421 (GRCm39) C32W probably damaging Het
Zfp931 T A 2: 177,709,855 (GRCm39) H177L probably damaging Het
Znrf1 T C 8: 112,264,198 (GRCm39) probably null 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
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'- AGTGAATGGGAGATTGTACCTG -3'
(R):5'- AGATCAGCAGTGCCTTCACC -3'

Sequencing Primer
(F):5'- AATGGGAGATTGTACCTGTGTTC -3'
(R):5'- GCAGTGCCTTCACCAGCATC -3'
Posted On 2016-03-17