Incidental Mutation 'IGL00391:Nmur1'
ID7419
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nmur1
Ensembl Gene ENSMUSG00000026237
Gene Nameneuromedin U receptor 1
SynonymsGpr66, NMU1R, NmU-R, FM-3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00391
Quality Score
Status
Chromosome1
Chromosomal Location86386303-86426228 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 86386471 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 381 (R381C)
Ref Sequence ENSEMBL: ENSMUSP00000148767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027440] [ENSMUST00000212058] [ENSMUST00000212541] [ENSMUST00000212614]
Predicted Effect probably damaging
Transcript: ENSMUST00000027440
AA Change: R358C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027440
Gene: ENSMUSG00000026237
AA Change: R358C

DomainStartEndE-ValueType
Pfam:7tm_4 40 231 4.1e-8 PFAM
Pfam:7TM_GPCR_Srsx 48 349 2.6e-8 PFAM
Pfam:7tm_1 54 334 7.8e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000212058
AA Change: R381C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212541
AA Change: R325C

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000212614
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice are healthy and viable. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 G A 5: 81,724,224 V990M probably damaging Het
Ap4b1 A G 3: 103,821,542 T499A probably benign Het
Cacna2d4 T C 6: 119,337,933 probably benign Het
Ccr5 T A 9: 124,124,406 D15E possibly damaging Het
Clca4b A G 3: 144,915,561 V584A possibly damaging Het
Cmtr1 T C 17: 29,674,262 M85T probably damaging Het
Col6a3 T A 1: 90,828,255 H104L probably damaging Het
Coq9 A T 8: 94,850,517 K170M probably damaging Het
Elmod1 A G 9: 53,924,398 probably null Het
Fam47e A C 5: 92,579,663 E143D probably damaging Het
Faxc A G 4: 21,948,725 K146E probably damaging Het
Gm5346 A T 8: 43,625,629 F519L probably damaging Het
Hrasls5 A T 19: 7,619,266 probably benign Het
Myo7b A C 18: 32,021,556 probably benign Het
Nsd2 T G 5: 33,855,733 D469E probably damaging Het
Osbpl6 G A 2: 76,590,439 C786Y probably damaging Het
Osgin2 T C 4: 16,006,439 Y85C probably damaging Het
Otof A G 5: 30,375,623 C1587R probably damaging Het
Plekha2 A G 8: 25,057,327 V247A probably damaging Het
Plppr5 A T 3: 117,671,943 N281I possibly damaging Het
Popdc3 A G 10: 45,317,826 probably null Het
Ppp1r12a A G 10: 108,198,848 N85D probably damaging Het
Serpinb8 A G 1: 107,606,984 S262G probably benign Het
Sspo G A 6: 48,497,386 G4780R probably damaging Het
Ush2a A G 1: 188,916,061 E4621G probably damaging Het
Other mutations in Nmur1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:Nmur1 APN 1 86386362 missense probably benign
IGL01420:Nmur1 APN 1 86387391 missense probably benign 0.01
IGL02505:Nmur1 APN 1 86386335 missense probably benign 0.00
R0391:Nmur1 UTSW 1 86387678 missense probably damaging 0.99
R1235:Nmur1 UTSW 1 86386693 missense probably damaging 1.00
R4213:Nmur1 UTSW 1 86387784 missense probably damaging 1.00
R4432:Nmur1 UTSW 1 86387565 missense probably damaging 1.00
R4583:Nmur1 UTSW 1 86386645 missense possibly damaging 0.90
R4718:Nmur1 UTSW 1 86387741 missense probably damaging 0.99
R6027:Nmur1 UTSW 1 86387331 nonsense probably null
R7025:Nmur1 UTSW 1 86387848 missense possibly damaging 0.94
R7097:Nmur1 UTSW 1 86387508 missense probably damaging 1.00
R7173:Nmur1 UTSW 1 86386468 missense probably benign 0.00
R7436:Nmur1 UTSW 1 86386378 missense probably benign 0.04
R7601:Nmur1 UTSW 1 86388019 missense probably damaging 1.00
Posted On2012-04-20