Incidental Mutation 'IGL03408:Il31ra'
ID421659
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il31ra
Ensembl Gene ENSMUSG00000050377
Gene Nameinterleukin 31 receptor A
SynonymsGLM-R, GPL
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03408
Quality Score
Status
Chromosome13
Chromosomal Location112519898-112594360 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 112525888 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 462 (D462E)
Ref Sequence ENSEMBL: ENSMUSP00000153382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051756] [ENSMUST00000223752] [ENSMUST00000223819] [ENSMUST00000224510] [ENSMUST00000224576]
Predicted Effect probably benign
Transcript: ENSMUST00000051756
AA Change: D543E

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000058045
Gene: ENSMUSG00000050377
AA Change: D543E

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
FN3 115 198 7.75e0 SMART
Blast:FN3 216 297 1e-40 BLAST
FN3 325 394 1.15e1 SMART
FN3 408 490 7.18e-3 SMART
low complexity region 508 522 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223577
Predicted Effect probably benign
Transcript: ENSMUST00000223752
Predicted Effect probably benign
Transcript: ENSMUST00000223819
AA Change: D570E

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224070
Predicted Effect probably benign
Transcript: ENSMUST00000224510
AA Change: D462E

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000224576
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 belongs to the type I cytokine receptor family. This receptor, with homology to gp130, is expressed on monocytes, and is involved in IL-31 signaling via activation of STAT-3 and STAT-5. It functions either as a monomer, or as part of a receptor complex with oncostatin M receptor (OSMR). Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygous null mice display no apparent abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730559C18Rik T C 1: 136,214,405 Y652C probably benign Het
Abca12 A T 1: 71,264,795 F2108I probably damaging Het
Aco2 T C 15: 81,899,223 probably null Het
Ccdc186 T C 19: 56,798,731 K602E probably benign Het
Ccdc85a T A 11: 28,576,528 H360L probably damaging Het
Cited2 A G 10: 17,724,400 H152R possibly damaging Het
Cluh C A 11: 74,665,953 R940S probably benign Het
Corin T A 5: 72,342,961 Y432F probably benign Het
Creb1 A G 1: 64,576,332 probably null Het
Dhx15 A T 5: 52,160,312 D568E probably damaging Het
Esam G T 9: 37,534,653 R162S possibly damaging Het
Fat3 T A 9: 15,997,957 K2250* probably null Het
Fbxl17 G A 17: 63,080,546 R133* probably null Het
Gm11639 T A 11: 104,710,621 S253R probably benign Het
Gzmc C T 14: 56,234,016 G23R probably damaging Het
Idh3a A G 9: 54,596,922 N189D probably benign Het
Inpp5j G A 11: 3,502,809 A147V possibly damaging Het
Kalrn G A 16: 34,314,176 A412V probably damaging Het
Lrp1b A G 2: 40,858,582 V2968A probably damaging Het
Morc1 G A 16: 48,442,412 G42R probably damaging Het
Notch4 T C 17: 34,565,568 L85P probably benign Het
Olfr1263 G A 2: 90,015,571 V214M probably benign Het
Olfr498 A T 7: 108,465,347 N8Y probably damaging Het
Parp4 T A 14: 56,602,408 H524Q probably damaging Het
Pole T C 5: 110,294,560 F285L probably damaging Het
Scn9a A G 2: 66,526,747 M1070T probably benign Het
Slc25a32 G A 15: 39,100,030 A132V probably benign Het
Sult2a2 T G 7: 13,738,229 I117S probably damaging Het
Suv39h2 T C 2: 3,459,876 N183S probably damaging Het
Trhr2 G A 8: 122,358,795 T150M probably damaging Het
Usp34 T A 11: 23,446,957 F614I possibly damaging Het
Vmn2r17 A G 5: 109,429,372 probably benign Het
Wfdc2 T A 2: 164,563,363 C61* probably null Het
Zfp384 T C 6: 125,035,713 S377P probably damaging Het
Zfp945 A T 17: 22,852,537 Y150* probably null Het
Other mutations in Il31ra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Il31ra APN 13 112547478 missense possibly damaging 0.94
IGL00639:Il31ra APN 13 112549559 nonsense probably null
IGL01640:Il31ra APN 13 112531758 missense possibly damaging 0.58
IGL02009:Il31ra APN 13 112533867 missense probably damaging 0.98
IGL02431:Il31ra APN 13 112530296 missense probably damaging 1.00
IGL02675:Il31ra APN 13 112524352 missense probably benign 0.00
IGL02718:Il31ra APN 13 112530369 nonsense probably null
IGL03388:Il31ra APN 13 112546212 missense probably damaging 1.00
R0482:Il31ra UTSW 13 112527481 missense possibly damaging 0.89
R0639:Il31ra UTSW 13 112525843 missense possibly damaging 0.95
R0905:Il31ra UTSW 13 112531673 missense probably damaging 1.00
R0948:Il31ra UTSW 13 112530378 missense possibly damaging 0.81
R1420:Il31ra UTSW 13 112531752 missense probably damaging 1.00
R1538:Il31ra UTSW 13 112547466 missense possibly damaging 0.91
R1776:Il31ra UTSW 13 112541239 missense probably damaging 0.97
R1931:Il31ra UTSW 13 112541222 missense probably damaging 1.00
R2006:Il31ra UTSW 13 112530356 missense probably damaging 1.00
R2134:Il31ra UTSW 13 112543888 missense possibly damaging 0.94
R3103:Il31ra UTSW 13 112530351 missense probably damaging 1.00
R4089:Il31ra UTSW 13 112551919 nonsense probably null
R4742:Il31ra UTSW 13 112523967 nonsense probably null
R4787:Il31ra UTSW 13 112527545 missense possibly damaging 0.82
R5154:Il31ra UTSW 13 112523997 missense possibly damaging 0.87
R5193:Il31ra UTSW 13 112524330 missense probably benign 0.34
R5402:Il31ra UTSW 13 112524135 missense probably benign 0.01
R5743:Il31ra UTSW 13 112527487 missense possibly damaging 0.89
R5917:Il31ra UTSW 13 112546312 missense probably benign
R6126:Il31ra UTSW 13 112530374 missense probably damaging 1.00
R6414:Il31ra UTSW 13 112523907 missense possibly damaging 0.90
R6580:Il31ra UTSW 13 112551942 missense possibly damaging 0.90
R6727:Il31ra UTSW 13 112547368 missense probably damaging 1.00
R6783:Il31ra UTSW 13 112551988 critical splice acceptor site probably null
R6912:Il31ra UTSW 13 112549464 missense probably damaging 0.99
R6925:Il31ra UTSW 13 112527529 missense possibly damaging 0.56
R7187:Il31ra UTSW 13 112546311 missense probably benign 0.04
R7210:Il31ra UTSW 13 112549500 missense possibly damaging 0.95
R7236:Il31ra UTSW 13 112523905 makesense probably null
R7323:Il31ra UTSW 13 112551963 missense probably damaging 1.00
R7618:Il31ra UTSW 13 112551980 missense possibly damaging 0.66
R7783:Il31ra UTSW 13 112541251 missense probably benign
Posted On2016-08-02