Incidental Mutation 'R6408:Nmu'
ID 514528
Institutional Source Beutler Lab
Gene Symbol Nmu
Ensembl Gene ENSMUSG00000029236
Gene Name neuromedin U
Synonyms
MMRRC Submission 044553-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6408 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 76481342-76511624 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76491818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 106 (F106Y)
Ref Sequence ENSEMBL: ENSMUSP00000031146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031146]
AlphaFold Q9QXK8
Predicted Effect probably damaging
Transcript: ENSMUST00000031146
AA Change: F106Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031146
Gene: ENSMUSG00000029236
AA Change: F106Y

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
Meta Mutation Damage Score 0.1908 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.2%
Validation Efficiency 94% (45/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik T C 5: 107,691,858 (GRCm39) S50P probably damaging Het
4930407I10Rik T C 15: 81,949,307 (GRCm39) V1068A possibly damaging Het
Acss1 A G 2: 150,470,412 (GRCm39) probably null Het
Amer2 T C 14: 60,617,674 (GRCm39) I497T probably damaging Het
Azi2 A T 9: 117,890,550 (GRCm39) R51* probably null Het
Brdt A G 5: 107,533,358 (GRCm39) D946G probably damaging Het
Bzw2 C T 12: 36,157,524 (GRCm39) V314I possibly damaging Het
Capn13 A T 17: 73,672,954 (GRCm39) Y116* probably null Het
Clca4b A G 3: 144,625,036 (GRCm39) I485T probably benign Het
Crybg3 T A 16: 59,316,053 (GRCm39) T1130S possibly damaging Het
Cubn C T 2: 13,299,014 (GRCm39) V3220M probably damaging Het
Cyp4f16 T A 17: 32,770,173 (GRCm39) L514Q probably damaging Het
D7Ertd443e G T 7: 133,951,440 (GRCm39) Q31K probably benign Het
Dcaf15 T C 8: 84,831,355 (GRCm39) E8G probably benign Het
Ddx24 A C 12: 103,391,819 (GRCm39) probably benign Het
Diaph3 T C 14: 87,066,430 (GRCm39) M988V possibly damaging Het
Dlx4 A G 11: 95,036,078 (GRCm39) V77A probably benign Het
Dnah3 T C 7: 119,522,191 (GRCm39) probably null Het
Drc1 A G 5: 30,513,632 (GRCm39) E396G probably benign Het
Gab1 C A 8: 81,515,226 (GRCm39) R364L possibly damaging Het
Gbp2b T C 3: 142,323,899 (GRCm39) L568S probably benign Het
Gjb5 A T 4: 127,249,940 (GRCm39) F68Y probably benign Het
Hs6st3 C A 14: 119,376,046 (GRCm39) P74T probably benign Het
Kif26b T C 1: 178,745,133 (GRCm39) L1743P probably damaging Het
Lnx1 A T 5: 74,846,307 (GRCm39) C48S probably damaging Het
Lrfn2 A G 17: 49,377,654 (GRCm39) H245R probably damaging Het
Lrrc27 A G 7: 138,798,184 (GRCm39) E93G probably benign Het
Mettl6 T C 14: 31,201,683 (GRCm39) E253G probably damaging Het
Pcsk7 T C 9: 45,820,994 (GRCm39) I142T probably benign Het
Polr3a A T 14: 24,536,939 (GRCm39) probably null Het
Psmb9 G T 17: 34,404,707 (GRCm39) A19E probably damaging Het
Pus7l A G 15: 94,429,456 (GRCm39) M454T probably benign Het
Raet1e A G 10: 22,056,645 (GRCm39) T74A probably benign Het
Ralb A C 1: 119,405,839 (GRCm39) Y43* probably null Het
Ralgapa1 C A 12: 55,730,695 (GRCm39) E1947* probably null Het
Rnf26rt A G 6: 76,473,441 (GRCm39) C392R probably damaging Het
Robo1 T C 16: 72,768,934 (GRCm39) Y500H probably benign Het
Shroom1 A C 11: 53,354,214 (GRCm39) T45P probably benign Het
Slit2 A G 5: 48,142,328 (GRCm39) probably benign Het
Spmip2 A G 3: 79,356,706 (GRCm39) R170G probably benign Het
Srgap3 T C 6: 112,699,967 (GRCm39) S1004G probably damaging Het
Taok2 A G 7: 126,470,164 (GRCm39) V888A probably benign Het
Tbc1d8 T A 1: 39,441,980 (GRCm39) D204V probably damaging Het
Thoc2l A G 5: 104,666,643 (GRCm39) I388M probably benign Het
Trav7d-4 C A 14: 53,007,624 (GRCm39) A39D probably damaging Het
Ush2a G T 1: 187,999,229 (GRCm39) E180* probably null Het
Vmn1r37 A G 6: 66,708,563 (GRCm39) D63G probably benign Het
Zfp282 G A 6: 47,857,319 (GRCm39) R184Q probably damaging Het
Other mutations in Nmu
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01074:Nmu APN 5 76,491,774 (GRCm39) missense probably damaging 0.97
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
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
Predicted Primers PCR Primer
(F):5'- ACTGGGCTACACCATCAGAC -3'
(R):5'- ACTGTAGTGTAACTTCCTGTCC -3'

Sequencing Primer
(F):5'- CCATCAGACCCAGACATAATTTATAG -3'
(R):5'- CATTGATTTTTGAGCAACGGATG -3'
Posted On 2018-05-04