Incidental Mutation 'IGL02274:Neurl2'
ID287284
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Neurl2
Ensembl Gene ENSMUSG00000039873
Gene Nameneuralized E3 ubiquitin protein ligase 2
SynonymsOzz, Ozz-E3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02274
Quality Score
Status
Chromosome2
Chromosomal Location164830732-164833456 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 164833092 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 117 (R117S)
Ref Sequence ENSEMBL: ENSMUSP00000041806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017904] [ENSMUST00000017911] [ENSMUST00000042775] [ENSMUST00000103092] [ENSMUST00000103093] [ENSMUST00000127650] [ENSMUST00000143780] [ENSMUST00000151493] [ENSMUST00000152721]
Predicted Effect
SMART Domains Protein: ENSMUSP00000017904
Gene: ENSMUSG00000017760

DomainStartEndE-ValueType
signal peptide 1 41 N/A INTRINSIC
Pfam:Peptidase_S10 52 489 2.5e-140 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000017911
SMART Domains Protein: ENSMUSP00000017911
Gene: ENSMUSG00000017767

DomainStartEndE-ValueType
Pfam:SPATA25 1 226 3.2e-144 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000042775
AA Change: R117S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041806
Gene: ENSMUSG00000039873
AA Change: R117S

DomainStartEndE-ValueType
Pfam:Neuralized 25 90 1.1e-27 PFAM
SOCS_box 248 285 3.77e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103092
SMART Domains Protein: ENSMUSP00000099381
Gene: ENSMUSG00000017760

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Peptidase_S10 34 471 1.7e-139 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103093
SMART Domains Protein: ENSMUSP00000099382
Gene: ENSMUSG00000017760

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Peptidase_S10 34 471 1.7e-139 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127650
SMART Domains Protein: ENSMUSP00000115514
Gene: ENSMUSG00000017760

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Peptidase_S10 34 215 9.4e-81 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130959
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133077
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133502
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140213
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141411
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143293
Predicted Effect probably benign
Transcript: ENSMUST00000143780
SMART Domains Protein: ENSMUSP00000123413
Gene: ENSMUSG00000017760

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Peptidase_S10 34 144 2.1e-52 PFAM
Pfam:Peptidase_S10 141 208 1.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146525
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147883
Predicted Effect probably benign
Transcript: ENSMUST00000151493
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152721
SMART Domains Protein: ENSMUSP00000119814
Gene: ENSMUSG00000017760

DomainStartEndE-ValueType
Pfam:Peptidase_S10 45 227 1.7e-77 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155061
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is involved in the regulation of myofibril organization. This protein is likely the adaptor component of the E3 ubiquitin ligase complex in striated muscle, and it regulates the ubiquitin-mediated degradation of beta-catenin during myogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygous null mice display myofiber abnormalities in skeletal muscle and decreased body weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef10 A G 8: 14,947,205 D48G probably damaging Het
Asnsd1 T C 1: 53,347,575 I298V probably benign Het
Cacna2d3 G T 14: 28,956,870 probably null Het
Cbs T C 17: 31,625,948 probably null Het
Ccm2 C A 11: 6,590,808 T216K probably damaging Het
D430042O09Rik A G 7: 125,770,570 probably null Het
Galc C T 12: 98,254,214 W131* probably null Het
Gemin5 T C 11: 58,156,795 R318G possibly damaging Het
Gsta3 T G 1: 21,249,788 V6G possibly damaging Het
Hdlbp A T 1: 93,408,507 probably null Het
Igkv13-55-1 T G 6: 69,600,148 noncoding transcript Het
Il17rd A G 14: 27,099,910 Y387C probably damaging Het
Kmt2e C T 5: 23,500,760 T1344I probably benign Het
L3mbtl4 A C 17: 68,764,584 H502P probably benign Het
Lrig1 A T 6: 94,663,938 N95K possibly damaging Het
Nos1 G A 5: 117,897,780 A449T probably damaging Het
Noxa1 A T 2: 25,085,755 V435E probably benign Het
Parp9 C T 16: 35,947,947 R166W probably damaging Het
Pdzd2 A G 15: 12,445,649 I158T probably damaging Het
Pip5k1c T C 10: 81,306,384 Y143H probably damaging Het
Qrfpr A G 3: 36,222,136 V35A probably damaging Het
Rab3gap1 T G 1: 127,939,080 S881A probably benign Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Scai G A 2: 39,102,317 probably benign Het
Skiv2l T A 17: 34,845,863 I418F probably damaging Het
Tenm4 A C 7: 96,854,734 H1300P probably damaging Het
Tmppe A G 9: 114,405,431 H266R probably benign Het
Wdr11 A T 7: 129,631,172 probably null Het
Xirp2 A G 2: 67,508,651 E412G probably benign Het
Zan A G 5: 137,421,167 V2910A unknown Het
Other mutations in Neurl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1458:Neurl2 UTSW 2 164832746 missense possibly damaging 0.95
R2929:Neurl2 UTSW 2 164833344 missense possibly damaging 0.95
R3033:Neurl2 UTSW 2 164833055 missense probably benign 0.02
R4849:Neurl2 UTSW 2 164832819 unclassified probably null
R4959:Neurl2 UTSW 2 164833202 splice site probably null
R4973:Neurl2 UTSW 2 164833202 splice site probably null
R5360:Neurl2 UTSW 2 164833101 missense probably damaging 1.00
R5885:Neurl2 UTSW 2 164832891 missense probably damaging 1.00
Posted On2015-04-16