Incidental Mutation 'IGL02863:Il18r1'
ID362242
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il18r1
Ensembl Gene ENSMUSG00000026070
Gene Nameinterleukin 18 receptor 1
SynonymsIl18ralpha, Il1rrp
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02863
Quality Score
Status
Chromosome1
Chromosomal Location40465552-40500854 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 40487007 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Methionine at position 238 (L238M)
Ref Sequence ENSEMBL: ENSMUSP00000141464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087983] [ENSMUST00000108044] [ENSMUST00000167723] [ENSMUST00000193391] [ENSMUST00000193793] [ENSMUST00000195684]
Predicted Effect possibly damaging
Transcript: ENSMUST00000087983
AA Change: L238M

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000085298
Gene: ENSMUSG00000026070
AA Change: L238M

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 25 113 8.93e-1 SMART
IG_like 126 204 7.06e0 SMART
IG 219 315 3.63e0 SMART
transmembrane domain 326 348 N/A INTRINSIC
TIR 371 519 3.8e-37 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108044
AA Change: L238M

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103679
Gene: ENSMUSG00000026070
AA Change: L238M

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 25 113 8.93e-1 SMART
IG_like 126 204 7.06e0 SMART
IG 219 315 3.63e0 SMART
transmembrane domain 326 348 N/A INTRINSIC
TIR 371 519 3.8e-37 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167723
AA Change: L238M

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128277
Gene: ENSMUSG00000026070
AA Change: L238M

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 25 113 8.93e-1 SMART
IG_like 126 204 7.06e0 SMART
IG 219 315 3.63e0 SMART
transmembrane domain 326 348 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000193391
AA Change: L238M

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141695
Gene: ENSMUSG00000026070
AA Change: L238M

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 25 113 8.93e-1 SMART
IG_like 126 204 7.06e0 SMART
IG 219 315 3.63e0 SMART
transmembrane domain 326 348 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000193793
AA Change: L238M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141464
Gene: ENSMUSG00000026070
AA Change: L238M

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 25 113 3.7e-3 SMART
IG_like 132 189 9.7e-3 SMART
Pfam:Ig_2 214 263 5.2e-1 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000195684
AA Change: L238M

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142070
Gene: ENSMUSG00000026070
AA Change: L238M

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 25 113 8.93e-1 SMART
IG_like 126 204 7.06e0 SMART
IG 219 315 3.63e0 SMART
transmembrane domain 326 348 N/A INTRINSIC
TIR 371 519 3.8e-37 SMART
Coding Region Coverage
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 cytokine receptor that belongs to the interleukin 1 receptor family. This receptor specifically binds interleukin 18 (IL18), and is essential for IL18 mediated signal transduction. IFN-alpha and IL12 are reported to induce the expression of this receptor in NK and T cells. This gene along with four other members of the interleukin 1 receptor family, including IL1R2, IL1R1, ILRL2 (IL-1Rrp2), and IL1RL1 (T1/ST2), form a gene cluster on chromosome 2q. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit impaire Th1 cell development and defective NK cell physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932429P05Rik C T X: 89,752,823 P87L possibly damaging Het
9130011E15Rik T A 19: 45,958,411 N256Y probably damaging Het
9330182L06Rik C A 5: 9,461,399 C920* probably null Het
Abcb11 T A 2: 69,284,682 H640L probably damaging Het
Akr1c19 T A 13: 4,237,113 Y110* probably null Het
Alk T A 17: 71,897,835 E1114V probably damaging Het
Anln A T 9: 22,376,365 D213E probably damaging Het
Ano9 T C 7: 141,108,651 N164S probably benign Het
Arhgef9 G A X: 95,077,504 R266C probably damaging Het
Arnt2 C T 7: 84,267,937 R483H probably damaging Het
Asxl3 A T 18: 22,523,484 N1517I probably benign Het
Baiap3 C T 17: 25,244,502 probably benign Het
Capn12 T A 7: 28,883,156 V152E probably damaging Het
Casq2 A G 3: 102,144,175 T324A possibly damaging Het
Cmtm7 T C 9: 114,763,389 T47A probably benign Het
Csmd2 A G 4: 128,521,884 S2669G probably benign Het
Dnah1 C T 14: 31,295,293 R1520H probably damaging Het
Dnah8 T C 17: 30,769,697 C3214R probably damaging Het
Fbn1 A T 2: 125,303,256 C2688S possibly damaging Het
Fgf13 A G X: 59,063,669 V201A probably damaging Het
Ghr A T 15: 3,328,102 L228* probably null Het
Gpr22 A G 12: 31,710,007 C39R probably benign Het
Hk1 T C 10: 62,295,755 T274A possibly damaging Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Map3k21 A T 8: 125,927,541 E366D probably benign Het
Mgat4e C T 1: 134,541,158 E383K probably benign Het
Mrc2 G A 11: 105,333,620 probably benign Het
Myh13 T A 11: 67,332,541 L229Q probably damaging Het
Myo15 T A 11: 60,478,127 L571Q probably damaging Het
Ncoa1 T A 12: 4,297,513 M354L probably benign Het
Nomo1 T C 7: 46,046,916 F286S probably damaging Het
Ocstamp A G 2: 165,397,508 F253L probably damaging Het
Olfr1062 A G 2: 86,423,113 S188P probably benign Het
Olfr1331 T G 4: 118,868,886 I34S possibly damaging Het
Osbpl8 T C 10: 111,284,425 probably benign Het
Parp4 T C 14: 56,648,786 L1774P unknown Het
Paxip1 T C 5: 27,759,395 S729G probably benign Het
Phlpp1 T A 1: 106,376,297 probably null Het
Pkd1 G A 17: 24,569,752 G828D possibly damaging Het
Raver1 A G 9: 21,075,971 L670P probably damaging Het
Rhd A G 4: 134,885,310 I291V probably damaging Het
Rorb C T 19: 18,952,253 E377K probably benign Het
Slc1a5 T C 7: 16,793,721 I314T probably benign Het
Synj1 T C 16: 90,961,434 T841A possibly damaging Het
Tenm4 T A 7: 96,873,706 L1448H probably damaging Het
Tmc3 A T 7: 83,622,285 S882C possibly damaging Het
Tmc3 G T 7: 83,622,286 S882I probably benign Het
Tmem168 T C 6: 13,582,918 N271D probably damaging Het
Uck1 G A 2: 32,258,322 R161C probably benign Het
Usp13 A G 3: 32,918,947 I759V possibly damaging Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Vmn2r115 G T 17: 23,359,283 V577F probably damaging Het
Other mutations in Il18r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Il18r1 APN 1 40498652 missense possibly damaging 0.68
IGL00742:Il18r1 APN 1 40480991 missense probably benign 0.11
IGL01448:Il18r1 APN 1 40474730 missense probably damaging 1.00
IGL01726:Il18r1 APN 1 40498403 missense possibly damaging 0.83
IGL02081:Il18r1 APN 1 40498505 missense probably damaging 1.00
IGL02425:Il18r1 APN 1 40491221 splice site probably benign
IGL02447:Il18r1 APN 1 40498337 critical splice acceptor site probably null
IGL02529:Il18r1 APN 1 40487059 missense possibly damaging 0.77
IGL02928:Il18r1 APN 1 40478551 critical splice donor site probably null
IGL02941:Il18r1 APN 1 40498551 missense probably damaging 0.99
IGL03156:Il18r1 APN 1 40498368 missense possibly damaging 0.92
R0532:Il18r1 UTSW 1 40474901 missense probably damaging 0.97
R0926:Il18r1 UTSW 1 40487028 missense probably damaging 1.00
R1909:Il18r1 UTSW 1 40474914 missense probably damaging 1.00
R2212:Il18r1 UTSW 1 40491067 missense probably damaging 1.00
R2254:Il18r1 UTSW 1 40491220 missense possibly damaging 0.91
R2860:Il18r1 UTSW 1 40498557 missense possibly damaging 0.49
R2861:Il18r1 UTSW 1 40498557 missense possibly damaging 0.49
R2862:Il18r1 UTSW 1 40498557 missense possibly damaging 0.49
R3412:Il18r1 UTSW 1 40491067 missense probably damaging 1.00
R3432:Il18r1 UTSW 1 40487089 missense probably damaging 0.99
R3718:Il18r1 UTSW 1 40495788 missense probably benign 0.00
R3816:Il18r1 UTSW 1 40486972 splice site probably benign
R3894:Il18r1 UTSW 1 40474874 missense possibly damaging 0.79
R4061:Il18r1 UTSW 1 40474936 missense probably benign 0.33
R4062:Il18r1 UTSW 1 40474936 missense probably benign 0.33
R4381:Il18r1 UTSW 1 40471790 missense probably benign 0.00
R4972:Il18r1 UTSW 1 40491064 missense probably benign 0.39
R5059:Il18r1 UTSW 1 40481067 critical splice donor site probably null
R6229:Il18r1 UTSW 1 40474763 missense probably benign 0.02
R6458:Il18r1 UTSW 1 40491182 nonsense probably null
R6505:Il18r1 UTSW 1 40489707 missense probably benign
R6738:Il18r1 UTSW 1 40498656 missense probably benign 0.06
R7002:Il18r1 UTSW 1 40474853 missense probably benign 0.39
R7317:Il18r1 UTSW 1 40474832 missense possibly damaging 0.80
R7485:Il18r1 UTSW 1 40480980 missense probably benign 0.01
R7510:Il18r1 UTSW 1 40474875 missense probably benign 0.03
R7515:Il18r1 UTSW 1 40498670 missense not run
R7526:Il18r1 UTSW 1 40471772 missense probably damaging 0.99
R7793:Il18r1 UTSW 1 40471764 missense probably benign 0.01
X0023:Il18r1 UTSW 1 40471761 missense probably benign 0.04
X0064:Il18r1 UTSW 1 40495713 intron probably null
Z1088:Il18r1 UTSW 1 40474751 missense probably damaging 1.00
Z1088:Il18r1 UTSW 1 40478486 missense probably damaging 0.99
Posted On2015-12-18