Incidental Mutation 'R6910:Nms'
ID 538961
Institutional Source Beutler Lab
Gene Symbol Nms
Ensembl Gene ENSMUSG00000067604
Gene Name neuromedin S
MMRRC Submission 045002-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R6910 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 38939149-38950276 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38941895 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 54 (E54G)
Ref Sequence ENSEMBL: ENSMUSP00000125166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088029] [ENSMUST00000160214]
AlphaFold Q5H8A1
Predicted Effect probably benign
Transcript: ENSMUST00000088029
AA Change: E54G

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000085346
Gene: ENSMUSG00000067604
AA Change: E54G

signal peptide 1 27 N/A INTRINSIC
low complexity region 104 115 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160214
AA Change: E54G

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000125166
Gene: ENSMUSG00000067604
AA Change: E54G

signal peptide 1 27 N/A INTRINSIC
low complexity region 96 107 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (37/37)
MGI Phenotype FUNCTION: 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 the regulation of circadian rhythm, anorexigenic action, antidiuretic action, cardiovascular function and stimulation of oxytocin and vasopressin release. Mice lacking the encoded neuropeptide exhibit decreased heart rate without any accompanying changes in blood pressure. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate the mature peptide. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cfap54 A G 10: 92,836,512 (GRCm38) S2899P probably benign Het
Chil5 A G 3: 106,019,661 (GRCm38) W82R probably damaging Het
Dennd3 A G 15: 73,555,116 (GRCm38) T781A probably benign Het
Epha2 A G 4: 141,321,513 (GRCm38) D597G probably damaging Het
Gcn1 A G 5: 115,606,538 (GRCm38) T1598A probably benign Het
Glp2r A G 11: 67,730,671 (GRCm38) F162S probably benign Het
Gm17655 T A 5: 110,047,173 (GRCm38) R248* probably null Het
Gm9268 T C 7: 43,024,051 (GRCm38) F178L probably benign Het
Gnptab G A 10: 88,431,396 (GRCm38) G450S probably damaging Het
Gpatch2l G A 12: 86,244,184 (GRCm38) R47H probably damaging Het
Hapln2 A G 3: 88,023,828 (GRCm38) Y127H probably damaging Het
Hdac4 G T 1: 91,982,153 (GRCm38) T463K probably damaging Het
Ift80 A C 3: 68,927,735 (GRCm38) S458A probably benign Het
Lama1 A G 17: 67,791,464 (GRCm38) D1846G possibly damaging Het
Map3k8 A G 18: 4,340,801 (GRCm38) I171T probably benign Het
Micu1 A G 10: 59,740,667 (GRCm38) E115G probably damaging Het
Mrpl39 A G 16: 84,735,192 (GRCm38) V9A unknown Het
Ncoa7 T G 10: 30,694,121 (GRCm38) I281L possibly damaging Het
Nrip1 G A 16: 76,294,417 (GRCm38) A84V probably damaging Het
Or10ak9 T A 4: 118,869,138 (GRCm38) M119K probably damaging Het
Or11g27 G A 14: 50,533,873 (GRCm38) V154M probably benign Het
Pcdhga10 T A 18: 37,748,232 (GRCm38) S349T probably damaging Het
R3hcc1 G A 14: 69,697,575 (GRCm38) P454L probably damaging Het
Rsrc1 C T 3: 66,994,649 (GRCm38) P44L unknown Het
Ryr3 T C 2: 112,958,175 (GRCm38) D170G probably damaging Het
Sanbr A G 11: 23,620,447 (GRCm38) V151A probably damaging Het
Scp2 C A 4: 108,105,086 (GRCm38) G81C probably damaging Het
Sez6 A G 11: 77,953,869 (GRCm38) T173A possibly damaging Het
Syne1 T C 10: 5,048,887 (GRCm38) H8142R probably benign Het
Tcof1 G C 18: 60,829,051 (GRCm38) A702G possibly damaging Het
Tnfrsf11a A G 1: 105,844,546 (GRCm38) T520A probably damaging Het
Tpm1 A G 9: 67,031,974 (GRCm38) S170P probably damaging Het
Try5 T C 6: 41,311,799 (GRCm38) D54G possibly damaging Het
Zan T C 5: 137,419,080 (GRCm38) E3041G unknown Het
Zfp1001 A T 2: 150,324,067 (GRCm38) Q56L probably benign Het
Zfp616 A T 11: 74,085,002 (GRCm38) H699L probably damaging Het
Other mutations in Nms
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01796:Nms APN 1 38,946,111 (GRCm38) missense possibly damaging 0.92
IGL01959:Nms APN 1 38,941,925 (GRCm38) splice site probably benign
IGL02088:Nms APN 1 38,939,277 (GRCm38) utr 5 prime probably benign
IGL02810:Nms APN 1 38,948,644 (GRCm38) missense possibly damaging 0.94
IGL03001:Nms APN 1 38,941,912 (GRCm38) missense probably benign 0.12
alacrity UTSW 1 38,941,895 (GRCm38) missense probably benign 0.04
R1087:Nms UTSW 1 38,944,111 (GRCm38) critical splice donor site probably null
R3689:Nms UTSW 1 38,946,994 (GRCm38) splice site probably benign
R4426:Nms UTSW 1 38,939,296 (GRCm38) missense probably benign
R7258:Nms UTSW 1 38,946,970 (GRCm38) missense probably benign 0.01
R8848:Nms UTSW 1 38,939,310 (GRCm38) missense probably benign
R9108:Nms UTSW 1 38,946,066 (GRCm38) missense possibly damaging 0.78
R9493:Nms UTSW 1 38,941,901 (GRCm38) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-11-06