Incidental Mutation 'IGL01074:Nmu'
ID 51050
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nmu
Ensembl Gene ENSMUSG00000029236
Gene Name neuromedin U
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01074
Quality Score
Status
Chromosome 5
Chromosomal Location 76481342-76511624 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 76491774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 121 (V121F)
Ref Sequence ENSEMBL: ENSMUSP00000031146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031146]
AlphaFold Q9QXK8
Predicted Effect probably damaging
Transcript: ENSMUST00000031146
AA Change: V121F

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031146
Gene: ENSMUSG00000029236
AA Change: V121F

DomainStartEndE-ValueType
signal peptide 1 40 N/A INTRINSIC
low complexity region 45 56 N/A INTRINSIC
low complexity region 121 137 N/A INTRINSIC
Pfam:NMU 144 166 1.2e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132154
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 member of the neuromedin family of neuropeptides. The encoded protein is a precursor that is proteolytically processed to generate a biologically active neuropeptide that plays a role in pain, stress, immune-mediated inflammatory diseases and feeding regulation. Increased expression of this gene was observed in renal, pancreatic and lung cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. Some of these isoforms may undergo similar processing to generate the mature peptide. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygous null mice are healthy and viable. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A G 10: 79,849,726 (GRCm39) D1934G possibly damaging Het
Adcy2 A T 13: 68,944,773 (GRCm39) I203N possibly damaging Het
Asxl3 T C 18: 22,655,902 (GRCm39) V1304A probably damaging Het
Bltp3a A G 17: 28,098,265 (GRCm39) I136V possibly damaging Het
Cmah A G 13: 24,648,238 (GRCm39) D491G possibly damaging Het
Cobll1 A G 2: 64,938,192 (GRCm39) S364P probably damaging Het
Cspg4 T C 9: 56,806,149 (GRCm39) L2320P probably damaging Het
Defa5 T A 8: 21,787,592 (GRCm39) F46L possibly damaging Het
Erich6b T A 14: 75,896,208 (GRCm39) N31K probably benign Het
Fcrl6 C T 1: 172,426,680 (GRCm39) V89M possibly damaging Het
Gm5458 G T 14: 19,649,760 (GRCm39) L155I probably damaging Het
Hlx T C 1: 184,460,010 (GRCm39) D376G probably damaging Het
Hmcn1 A G 1: 150,502,784 (GRCm39) S3948P possibly damaging Het
Igf2bp2 G A 16: 21,882,454 (GRCm39) R416W probably damaging Het
Lama4 T C 10: 38,974,484 (GRCm39) probably null Het
Lingo4 T C 3: 94,310,595 (GRCm39) V511A probably benign Het
Mllt3 C A 4: 87,710,118 (GRCm39) V29L probably benign Het
Mmp16 T C 4: 18,110,584 (GRCm39) probably benign Het
Moxd1 A G 10: 24,155,282 (GRCm39) R228G probably benign Het
Myrfl T C 10: 116,615,490 (GRCm39) N802S possibly damaging Het
Npepps T C 11: 97,108,637 (GRCm39) T760A probably damaging Het
Ogfod1 G T 8: 94,789,634 (GRCm39) W445L probably damaging Het
Oplah G A 15: 76,189,948 (GRCm39) P222S probably damaging Het
Or4c116 T C 2: 88,942,023 (GRCm39) T278A probably benign Het
Slc4a4 T A 5: 89,327,633 (GRCm39) L699H probably damaging Het
Sod3 C T 5: 52,525,540 (GRCm39) Q80* probably null Het
Syne2 C T 12: 76,078,361 (GRCm39) Q4732* probably null Het
Syne2 T C 12: 76,033,785 (GRCm39) I3678T probably benign Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tmem220 T C 11: 66,922,999 (GRCm39) probably benign Het
Ush1c A G 7: 45,874,674 (GRCm39) probably benign Het
Wbp2nl T C 15: 82,198,491 (GRCm39) S343P possibly damaging Het
Other mutations in Nmu
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01459:Nmu APN 5 76,506,196 (GRCm39) critical splice donor site probably null
IGL01511:Nmu APN 5 76,488,668 (GRCm39) missense probably damaging 0.98
R1387:Nmu UTSW 5 76,497,992 (GRCm39) nonsense probably null
R4487:Nmu UTSW 5 76,491,909 (GRCm39) critical splice donor site probably null
R5514:Nmu UTSW 5 76,497,979 (GRCm39) missense probably damaging 0.96
R6408:Nmu UTSW 5 76,491,818 (GRCm39) missense probably damaging 1.00
R8517:Nmu UTSW 5 76,493,326 (GRCm39) missense possibly damaging 0.62
R9115:Nmu UTSW 5 76,511,572 (GRCm39) start gained probably benign
Posted On 2013-06-21