Incidental Mutation 'IGL00923:Nrtn'
ID 29270
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nrtn
Ensembl Gene ENSMUSG00000039481
Gene Name neurturin
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.160) question?
Stock # IGL00923
Quality Score
Status
Chromosome 17
Chromosomal Location 57058325-57064530 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57059447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 11 (S11P)
Ref Sequence ENSEMBL: ENSMUSP00000046512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044752]
AlphaFold P97463
Predicted Effect probably damaging
Transcript: ENSMUST00000044752
AA Change: S11P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046512
Gene: ENSMUSG00000039481
AA Change: S11P

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 32 50 N/A INTRINSIC
low complexity region 77 100 N/A INTRINSIC
TGFB 101 195 1.19e-2 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein signals through the RET receptor tyrosine kinase and a GPI-linked coreceptor, and promotes survival of neuronal populations. Homozygous knockout mice for this gene exhibit defects in the development of the retina and enteric nervous system, and reduced cholinergic innervation of the heart and lacrimal glands. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for disruptions of this gene have drooping, thickened eyelids which are a manifestation of abnormalities in the parasympathetic system. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T A 5: 89,832,235 (GRCm39) E956V probably benign Het
Adcy2 C T 13: 68,768,915 (GRCm39) G1071E probably damaging Het
Adgrv1 A T 13: 81,530,410 (GRCm39) V5888D probably damaging Het
Arhgef12 G A 9: 42,931,920 (GRCm39) T189I probably damaging Het
Cp T C 3: 20,024,165 (GRCm39) L335P probably damaging Het
Cwf19l1 A G 19: 44,119,849 (GRCm39) probably null Het
Dgki A T 6: 36,839,391 (GRCm39) N933K probably benign Het
Dixdc1 G T 9: 50,579,033 (GRCm39) A660D probably damaging Het
Dnajc9 T C 14: 20,435,515 (GRCm39) D232G probably benign Het
Dock9 A G 14: 121,844,504 (GRCm39) probably benign Het
Elp6 A T 9: 110,139,193 (GRCm39) T29S probably damaging Het
Fam8a1 T C 13: 46,827,147 (GRCm39) probably null Het
Fbn2 A T 18: 58,145,397 (GRCm39) D2746E probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Mtss1 G T 15: 58,815,348 (GRCm39) N737K possibly damaging Het
Nbas T C 12: 13,386,285 (GRCm39) V737A possibly damaging Het
Ndrg1 A T 15: 66,814,959 (GRCm39) N164K probably damaging Het
Or4c11c T G 2: 88,661,456 (GRCm39) probably null Het
Or4f62 T A 2: 111,987,122 (GRCm39) D275E possibly damaging Het
Rab10 T A 12: 3,303,334 (GRCm39) M118L probably benign Het
Slc11a2 A G 15: 100,295,669 (GRCm39) V175A probably benign Het
Tex21 T A 12: 76,291,885 (GRCm39) D12V probably damaging Het
Ttn T A 2: 76,731,272 (GRCm39) probably benign Het
Vmn1r215 G A 13: 23,260,419 (GRCm39) G153D probably damaging Het
Zc3h4 A G 7: 16,163,617 (GRCm39) D612G unknown Het
Zfp354c A T 11: 50,706,440 (GRCm39) Y212N probably damaging Het
Zmiz2 T A 11: 6,352,845 (GRCm39) M631K probably damaging Het
Other mutations in Nrtn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Nrtn APN 17 57,058,569 (GRCm39) missense probably benign 0.00
R4590:Nrtn UTSW 17 57,058,504 (GRCm39) missense probably damaging 0.97
R4888:Nrtn UTSW 17 57,058,636 (GRCm39) missense probably damaging 1.00
R7506:Nrtn UTSW 17 57,058,633 (GRCm39) missense probably damaging 0.98
R7564:Nrtn UTSW 17 57,058,473 (GRCm39) missense probably damaging 1.00
R8846:Nrtn UTSW 17 57,058,728 (GRCm39) missense possibly damaging 0.74
R9563:Nrtn UTSW 17 57,058,416 (GRCm39) missense probably damaging 1.00
R9691:Nrtn UTSW 17 57,059,480 (GRCm39) start gained probably benign
Posted On 2013-04-17