Incidental Mutation 'R1087:Nms'
ID 85052
Institutional Source Beutler Lab
Gene Symbol Nms
Ensembl Gene ENSMUSG00000067604
Gene Name neuromedin S
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R1087 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 38978230-38989357 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 38983192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088029] [ENSMUST00000160214]
AlphaFold Q5H8A1
Predicted Effect probably null
Transcript: ENSMUST00000088029
SMART Domains Protein: ENSMUSP00000085346
Gene: ENSMUSG00000067604

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 104 115 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000160214
SMART Domains Protein: ENSMUSP00000125166
Gene: ENSMUSG00000067604

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 96 107 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.3%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa11 A G 14: 25,870,603 (GRCm39) M56V unknown Het
Arid4a G A 12: 71,122,112 (GRCm39) S509N probably benign Het
Atp8b3 T C 10: 80,356,017 (GRCm39) R1232G probably benign Het
Axdnd1 T A 1: 156,193,259 (GRCm39) M643L probably benign Het
Bsph1 A G 7: 13,206,106 (GRCm39) Y57C probably damaging Het
Car13 G A 3: 14,706,885 (GRCm39) W6* probably null Het
Ccdc192 T C 18: 57,863,870 (GRCm39) S225P probably damaging Het
Ccng2 T C 5: 93,421,303 (GRCm39) I271T probably benign Het
Ces1f T A 8: 93,984,923 (GRCm39) D468V probably damaging Het
Chil4 A G 3: 106,117,881 (GRCm39) Y130H probably benign Het
Clns1a T A 7: 97,354,862 (GRCm39) H69Q possibly damaging Het
Cnot11 T A 1: 39,579,139 (GRCm39) S335T probably benign Het
Dcaf11 A G 14: 55,806,581 (GRCm39) S461G probably damaging Het
Dlst G A 12: 85,179,413 (GRCm39) M417I probably damaging Het
Dock4 A C 12: 40,779,937 (GRCm39) I612L probably benign Het
Endod1 A G 9: 14,268,489 (GRCm39) V332A possibly damaging Het
F830045P16Rik T C 2: 129,314,639 (GRCm39) T213A possibly damaging Het
Gm5773 A T 3: 93,681,065 (GRCm39) I246F probably damaging Het
Gml2 T A 15: 74,695,946 (GRCm39) D113E possibly damaging Het
Grik1 T C 16: 87,803,265 (GRCm39) E309G probably benign Het
Hectd1 A T 12: 51,823,355 (GRCm39) I1013K probably damaging Het
Kcmf1 T C 6: 72,835,863 (GRCm39) E22G probably damaging Het
Kdm5b T A 1: 134,528,375 (GRCm39) C361S probably damaging Het
Kif21b T C 1: 136,090,561 (GRCm39) S1150P probably damaging Het
Man2b1 G A 8: 85,821,800 (GRCm39) V701M probably damaging Het
Marchf10 T C 11: 105,281,488 (GRCm39) R266G probably damaging Het
Milr1 A G 11: 106,645,848 (GRCm39) Y130C probably damaging Het
Nampt A G 12: 32,883,042 (GRCm39) T76A possibly damaging Het
Nek10 A G 14: 14,827,059 (GRCm38) N86D possibly damaging Het
Or10w1 T A 19: 13,632,376 (GRCm39) C194* probably null Het
Parp14 A G 16: 35,678,658 (GRCm39) S437P probably damaging Het
Pif1 A G 9: 65,496,377 (GRCm39) M226V probably benign Het
Rnf169 T C 7: 99,592,204 (GRCm39) R216G probably benign Het
Rorb T C 19: 18,937,778 (GRCm39) K307R probably damaging Het
Scube2 T C 7: 109,430,882 (GRCm39) D439G probably damaging Het
Serpinb8 T C 1: 107,534,727 (GRCm39) V266A probably damaging Het
Strip2 A G 6: 29,927,633 (GRCm39) E226G probably damaging Het
Trim23 A G 13: 104,324,618 (GRCm39) D212G possibly damaging Het
Vmn1r172 T A 7: 23,359,673 (GRCm39) V186D possibly damaging Het
Vwde A T 6: 13,186,803 (GRCm39) C895S probably damaging Het
Zswim8 C A 14: 20,767,933 (GRCm39) probably null Het
Other mutations in Nms
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01796:Nms APN 1 38,985,192 (GRCm39) missense possibly damaging 0.92
IGL01959:Nms APN 1 38,981,006 (GRCm39) splice site probably benign
IGL02088:Nms APN 1 38,978,358 (GRCm39) utr 5 prime probably benign
IGL02810:Nms APN 1 38,987,725 (GRCm39) missense possibly damaging 0.94
IGL03001:Nms APN 1 38,980,993 (GRCm39) missense probably benign 0.12
alacrity UTSW 1 38,980,976 (GRCm39) missense probably benign 0.04
R3689:Nms UTSW 1 38,986,075 (GRCm39) splice site probably benign
R4426:Nms UTSW 1 38,978,377 (GRCm39) missense probably benign
R6910:Nms UTSW 1 38,980,976 (GRCm39) missense probably benign 0.04
R7258:Nms UTSW 1 38,986,051 (GRCm39) missense probably benign 0.01
R8848:Nms UTSW 1 38,978,391 (GRCm39) missense probably benign
R9108:Nms UTSW 1 38,985,147 (GRCm39) missense possibly damaging 0.78
R9493:Nms UTSW 1 38,980,982 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGGCTACATGAGGAAAGCTTGACAC -3'
(R):5'- AGAGACCATTCTCTTGCTGCCCTG -3'

Sequencing Primer
(F):5'- TCTTGAAAGCCTGTGGCAAC -3'
(R):5'- CTGCCCTGAGCAGGGAG -3'
Posted On 2013-11-18