Incidental Mutation 'IGL03015:Nmbr'
ID 407911
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nmbr
Ensembl Gene ENSMUSG00000019865
Gene Name neuromedin B receptor
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL03015
Quality Score
Status
Chromosome 10
Chromosomal Location 14634894-14647202 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14636412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 127 (V127E)
Ref Sequence ENSEMBL: ENSMUSP00000140223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020015] [ENSMUST00000186382] [ENSMUST00000190114] [ENSMUST00000190751] [ENSMUST00000191238]
AlphaFold O54799
Predicted Effect probably damaging
Transcript: ENSMUST00000020015
AA Change: V127E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020015
Gene: ENSMUSG00000019865
AA Change: V127E

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 54 339 5.9e-9 PFAM
Pfam:7tm_1 60 325 2.9e-55 PFAM
Pfam:7TM_GPCR_Srv 92 341 2.6e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181479
Predicted Effect probably damaging
Transcript: ENSMUST00000186382
AA Change: V127E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139612
Gene: ENSMUSG00000019865
AA Change: V127E

DomainStartEndE-ValueType
Pfam:7tm_1 60 257 1.4e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188021
Predicted Effect probably benign
Transcript: ENSMUST00000190114
SMART Domains Protein: ENSMUSP00000140754
Gene: ENSMUSG00000019865

DomainStartEndE-ValueType
Pfam:7tm_1 8 119 6.8e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000190751
AA Change: V127E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140223
Gene: ENSMUSG00000019865
AA Change: V127E

DomainStartEndE-ValueType
Pfam:7tm_1 60 144 2.7e-21 PFAM
transmembrane domain 152 174 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191238
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 7-transmembrane G protein-coupled receptor that binds neuromedin B, which is a growth factor and mitogen for gastrointestinal epithelial tissue and for normal and neoplastic lung. This receptor may play a role in smooth muscle contraction, neuronal responses, and the regulation of cell growth. Antagonists of this receptor have a potential therapeutic use in inhibiting tumor cell growth. Polymorphisms in this gene may be associated with a susceptibility for schizophrenia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a knock-out allele show a 50% reduction in the thermoregulatory response to neuromedin B as well as impaired maternal behavior in response to restraint-induced stress. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 T G 14: 29,708,273 (GRCm39) W184G possibly damaging Het
Asb4 T C 6: 5,398,515 (GRCm39) V160A possibly damaging Het
Cct8 C A 16: 87,283,553 (GRCm39) probably benign Het
Daw1 T A 1: 83,161,103 (GRCm39) probably benign Het
Itpr2 T C 6: 146,277,435 (GRCm39) I325V probably benign Het
Lipk A G 19: 33,996,108 (GRCm39) T7A probably benign Het
Ly75 A G 2: 60,206,504 (GRCm39) V55A probably damaging Het
Malrd1 A C 2: 16,047,082 (GRCm39) D1736A unknown Het
Nav3 T A 10: 109,554,158 (GRCm39) I1735F probably damaging Het
Notch2 A G 3: 97,979,965 (GRCm39) T160A possibly damaging Het
Prrt4 T C 6: 29,169,996 (GRCm39) M819V probably benign Het
Psmd1 T C 1: 86,055,914 (GRCm39) S759P probably damaging Het
Rnf13 A G 3: 57,741,165 (GRCm39) E318G possibly damaging Het
Selenon T C 4: 134,272,829 (GRCm39) N203S probably benign Het
Syt13 A G 2: 92,781,725 (GRCm39) I309V possibly damaging Het
Ush2a C T 1: 188,169,147 (GRCm39) T1096I probably benign Het
Vwf T G 6: 125,661,101 (GRCm39) probably benign Het
Other mutations in Nmbr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01617:Nmbr APN 10 14,646,173 (GRCm39) missense probably benign 0.19
IGL01874:Nmbr APN 10 14,642,696 (GRCm39) missense probably benign 0.09
IGL02616:Nmbr APN 10 14,636,431 (GRCm39) intron probably benign
IGL02619:Nmbr APN 10 14,636,331 (GRCm39) missense probably damaging 0.99
G5030:Nmbr UTSW 10 14,642,747 (GRCm39) missense possibly damaging 0.95
R0057:Nmbr UTSW 10 14,636,268 (GRCm39) missense probably damaging 0.97
R0238:Nmbr UTSW 10 14,646,139 (GRCm39) nonsense probably null
R0238:Nmbr UTSW 10 14,646,139 (GRCm39) nonsense probably null
R0324:Nmbr UTSW 10 14,636,192 (GRCm39) missense possibly damaging 0.50
R1252:Nmbr UTSW 10 14,636,187 (GRCm39) missense probably benign 0.09
R1812:Nmbr UTSW 10 14,636,283 (GRCm39) splice site probably null
R1831:Nmbr UTSW 10 14,642,609 (GRCm39) missense probably benign 0.36
R2140:Nmbr UTSW 10 14,646,186 (GRCm39) nonsense probably null
R2141:Nmbr UTSW 10 14,646,186 (GRCm39) nonsense probably null
R4604:Nmbr UTSW 10 14,645,908 (GRCm39) missense probably damaging 1.00
R4936:Nmbr UTSW 10 14,642,730 (GRCm39) missense probably damaging 1.00
R5965:Nmbr UTSW 10 14,642,554 (GRCm39) missense probably benign 0.01
R6636:Nmbr UTSW 10 14,645,978 (GRCm39) missense probably benign 0.23
R6895:Nmbr UTSW 10 14,645,704 (GRCm39) makesense probably null
R7644:Nmbr UTSW 10 14,636,433 (GRCm39) missense probably damaging 1.00
R8942:Nmbr UTSW 10 14,646,197 (GRCm39) missense probably benign 0.03
Z1177:Nmbr UTSW 10 14,646,071 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02