Incidental Mutation 'IGL00329:Nrtn'
ID 12786
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 # IGL00329
Quality Score
Status
Chromosome 17
Chromosomal Location 57058325-57064530 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 57058569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 144 (R144L)
Ref Sequence ENSEMBL: ENSMUSP00000046512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044752]
AlphaFold P97463
Predicted Effect probably benign
Transcript: ENSMUST00000044752
AA Change: R144L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000046512
Gene: ENSMUSG00000039481
AA Change: R144L

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 A G 3: 36,123,911 (GRCm39) N72S probably benign Het
Aopep T A 13: 63,338,977 (GRCm39) I623N probably damaging Het
Apba3 C T 10: 81,108,901 (GRCm39) P555S probably damaging Het
Arcn1 C A 9: 44,670,333 (GRCm39) E98* probably null Het
Cimip2b G A 4: 43,428,158 (GRCm39) R100W possibly damaging Het
Col28a1 G T 6: 8,175,425 (GRCm39) T141K probably damaging Het
Dna2 T C 10: 62,802,222 (GRCm39) F811S probably damaging Het
Dusp19 T A 2: 80,461,269 (GRCm39) I186K probably damaging Het
Dync2li1 A G 17: 84,952,154 (GRCm39) D195G possibly damaging Het
Epm2aip1 T C 9: 111,101,855 (GRCm39) V276A possibly damaging Het
Extl3 T C 14: 65,313,070 (GRCm39) E704G probably benign Het
Gle1 T C 2: 29,829,301 (GRCm39) probably benign Het
Gm2178 C A 14: 26,235,767 (GRCm39) probably benign Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Herc2 T A 7: 55,774,047 (GRCm39) L1166Q probably damaging Het
Hsd11b2 A G 8: 106,249,759 (GRCm39) E290G probably benign Het
Inpp5d T C 1: 87,595,725 (GRCm39) V157A probably benign Het
Krt72 T A 15: 101,693,434 (GRCm39) Q160L probably damaging Het
Lrrd1 A G 5: 3,900,081 (GRCm39) K129E possibly damaging Het
Mapk13 A G 17: 28,995,379 (GRCm39) Y200C probably damaging Het
Mme G A 3: 63,287,749 (GRCm39) W750* probably null Het
Nat8l C T 5: 34,155,761 (GRCm39) P139L probably damaging Het
Or52h9 C A 7: 104,202,299 (GRCm39) P58T probably benign Het
Pate12 G A 9: 36,344,198 (GRCm39) probably benign Het
Pdgfa T A 5: 138,974,216 (GRCm39) probably benign Het
Rtp3 A G 9: 110,815,666 (GRCm39) V233A probably benign Het
Syne2 A G 12: 76,078,474 (GRCm39) probably benign Het
Trappc10 A T 10: 78,039,711 (GRCm39) probably benign Het
Usp24 A G 4: 106,216,288 (GRCm39) T380A probably benign Het
Vmn1r21 A T 6: 57,821,049 (GRCm39) S132T probably benign Het
Other mutations in Nrtn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00923:Nrtn APN 17 57,059,447 (GRCm39) missense probably damaging 0.98
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 2012-12-06