Incidental Mutation 'R3705:Nmur2'
ID258719
Institutional Source Beutler Lab
Gene Symbol Nmur2
Ensembl Gene ENSMUSG00000037393
Gene Nameneuromedin U receptor 2
Synonyms
MMRRC Submission 040698-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #R3705 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location56024987-56041010 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 56040474 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 137 (Y137C)
Ref Sequence ENSEMBL: ENSMUSP00000044718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037682]
Predicted Effect probably damaging
Transcript: ENSMUST00000037682
AA Change: Y137C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044718
Gene: ENSMUSG00000037393
AA Change: Y137C

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srw 42 337 4.7e-7 PFAM
Pfam:7TM_GPCR_Srsx 48 334 1.8e-13 PFAM
Pfam:7tm_1 54 319 5.7e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134285
Meta Mutation Damage Score 0.9657 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (46/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein from the G-protein coupled receptor 1 family. This protein is a receptor for neuromedin U, which is a neuropeptide that is widely distributed in the gut and central nervous system. This receptor plays an important role in the regulation of food intake and body weight. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one knock-out allele exhibit increased chemical and thermal nociception thresholds, insensitivity to treatment with Nmu or Nms, and altered weight gain following a fast or when fed a high-fat diet that can be sex-dependent. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 36,987,581 C2703S probably damaging Het
9930111J21Rik1 T C 11: 48,947,976 T595A possibly damaging Het
Abca12 T C 1: 71,285,705 D1538G probably damaging Het
Asap3 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGAGGAGGA 4: 136,241,241 probably benign Het
Bcap29 T C 12: 31,617,152 H170R probably benign Het
Brwd3 A G X: 108,760,415 probably benign Het
Capn1 T C 19: 6,007,371 E349G probably damaging Het
Cers3 G T 7: 66,786,075 A261S probably benign Het
Csf3r A G 4: 126,032,285 D221G possibly damaging Het
Cubn T A 2: 13,350,943 H1826L probably damaging Het
Dnajc19 A G 3: 34,080,229 probably null Het
Dync1h1 G A 12: 110,640,586 V2566I possibly damaging Het
Ehd1 A G 19: 6,298,300 D436G probably benign Het
Fam133b T C 5: 3,561,034 probably benign Het
Fam43b G C 4: 138,395,098 R304G probably benign Het
Gm13084 T C 4: 143,811,775 T209A probably benign Het
Gpnmb T A 6: 49,051,865 I439N possibly damaging Het
Grm1 G A 10: 10,782,729 T339I possibly damaging Het
Gtpbp3 T G 8: 71,492,135 S345A probably benign Het
Hdac4 A G 1: 91,934,694 probably benign Het
Hfm1 A G 5: 106,892,839 probably benign Het
Ift172 A G 5: 31,261,437 probably null Het
Igfn1 T C 1: 135,968,409 N1473S probably benign Het
Jak3 A G 8: 71,681,522 K423E probably damaging Het
Kifc3 G A 8: 95,104,028 probably benign Het
Lrrc8d T C 5: 105,813,475 S584P probably damaging Het
Nipal4 T C 11: 46,161,851 probably benign Het
Nisch A G 14: 31,176,745 probably benign Het
Nod2 T C 8: 88,653,320 S150P probably benign Het
Olfr153 A G 2: 87,532,068 I12V probably benign Het
Pdgfc T C 3: 81,204,444 probably null Het
Phldb1 G T 9: 44,694,394 H1323N probably damaging Het
Ppp1r14c A G 10: 3,423,524 I112V possibly damaging Het
Rcc1l A T 5: 134,154,191 V414E probably damaging Het
Riok3 A G 18: 12,148,954 M327V probably benign Het
Sf3b4 T C 3: 96,176,628 probably benign Het
Spag6 A G 2: 18,710,557 Y49C probably damaging Het
Syngap1 T C 17: 26,960,020 S495P probably damaging Het
Tedc2 A G 17: 24,216,387 S343P probably benign Het
Tenm2 T A 11: 36,068,326 D1132V probably damaging Het
Tmem63a G A 1: 180,963,114 D446N possibly damaging Het
Top1 G A 2: 160,702,824 probably null Het
Tox3 G T 8: 90,248,905 T366K possibly damaging Het
Tph2 G A 10: 115,119,893 Q332* probably null Het
Zfr2 T G 10: 81,246,079 V493G probably benign Het
Other mutations in Nmur2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Nmur2 APN 11 56040777 missense probably damaging 0.99
IGL01591:Nmur2 APN 11 56026999 missense probably benign
IGL01960:Nmur2 APN 11 56040511 missense probably damaging 0.99
IGL02108:Nmur2 APN 11 56040364 missense probably benign 0.33
IGL02602:Nmur2 APN 11 56027063 missense probably benign 0.19
PIT4677001:Nmur2 UTSW 11 56033009 missense probably benign 0.00
R0324:Nmur2 UTSW 11 56040520 missense probably damaging 1.00
R0458:Nmur2 UTSW 11 56040568 missense possibly damaging 0.93
R0718:Nmur2 UTSW 11 56029498 splice site probably benign
R1799:Nmur2 UTSW 11 56029621 missense probably damaging 1.00
R2099:Nmur2 UTSW 11 56040763 missense probably benign 0.00
R2263:Nmur2 UTSW 11 56029561 missense probably damaging 0.97
R3701:Nmur2 UTSW 11 56040777 missense probably damaging 0.99
R3951:Nmur2 UTSW 11 56040225 missense probably damaging 1.00
R4083:Nmur2 UTSW 11 56040225 missense probably damaging 1.00
R4744:Nmur2 UTSW 11 56040835 missense probably benign 0.01
R4747:Nmur2 UTSW 11 56040279 missense probably benign 0.05
R5288:Nmur2 UTSW 11 56040214 missense probably damaging 1.00
R5384:Nmur2 UTSW 11 56040214 missense probably damaging 1.00
R5579:Nmur2 UTSW 11 56033009 missense probably benign 0.00
R6329:Nmur2 UTSW 11 56029585 missense probably benign 0.30
R6477:Nmur2 UTSW 11 56029591 missense probably damaging 1.00
R7445:Nmur2 UTSW 11 56032940 missense probably damaging 0.97
R7580:Nmur2 UTSW 11 56026982 missense probably benign 0.03
R7899:Nmur2 UTSW 11 56040335 missense probably benign
R7982:Nmur2 UTSW 11 56040335 missense probably benign
X0062:Nmur2 UTSW 11 56040849 missense probably benign 0.01
Z1176:Nmur2 UTSW 11 56027101 missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- GCTTGGATGATGAAGTTATACACCC -3'
(R):5'- TCAGCTTGGCAGTCTCAGAC -3'

Sequencing Primer
(F):5'- GATGATGAAGTTATACACCCATATGG -3'
(R):5'- GCAGTCTCAGACTTGCTGGTC -3'
Posted On2015-01-23