Incidental Mutation 'IGL02616:Nmbr'
ID 300671
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 # IGL02616
Quality Score
Status
Chromosome 10
Chromosomal Location 14634894-14647202 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 14636431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020015] [ENSMUST00000186382] [ENSMUST00000190114] [ENSMUST00000190751] [ENSMUST00000191238]
AlphaFold O54799
Predicted Effect silent
Transcript: ENSMUST00000020015
SMART Domains Protein: ENSMUSP00000020015
Gene: ENSMUSG00000019865

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 silent
Transcript: ENSMUST00000186382
SMART Domains Protein: ENSMUSP00000139612
Gene: ENSMUSG00000019865

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 silent
Transcript: ENSMUST00000190751
SMART Domains Protein: ENSMUSP00000140223
Gene: ENSMUSG00000019865

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,138,644 (GRCm39) R190G probably benign Het
4931406B18Rik T C 7: 43,150,437 (GRCm39) probably null Het
Adcy4 T C 14: 56,020,971 (GRCm39) probably null Het
Ahnak C A 19: 8,982,991 (GRCm39) P1425Q probably benign Het
Arih1 A G 9: 59,319,759 (GRCm39) V285A probably benign Het
Atp13a1 T C 8: 70,257,963 (GRCm39) V906A probably benign Het
Atp2a2 A T 5: 122,599,747 (GRCm39) I548N probably benign Het
C2cd5 A T 6: 142,980,837 (GRCm39) S643T probably benign Het
Calcoco1 T C 15: 102,624,285 (GRCm39) D210G probably damaging Het
Cep128 A G 12: 91,263,032 (GRCm39) I289T probably benign Het
Ces1c C T 8: 93,833,243 (GRCm39) M407I probably benign Het
Cntln T G 4: 85,033,689 (GRCm39) probably null Het
Cypt12 T A 3: 18,002,892 (GRCm39) H88Q possibly damaging Het
Ddc T A 11: 11,830,645 (GRCm39) probably benign Het
Dnajb12 T C 10: 59,728,685 (GRCm39) probably null Het
Gata2 A G 6: 88,182,462 (GRCm39) T477A possibly damaging Het
Gckr A G 5: 31,484,419 (GRCm39) D619G probably benign Het
Gm5699 A T 1: 31,037,432 (GRCm39) noncoding transcript Het
Gm8257 T A 14: 44,892,683 (GRCm39) S106C probably damaging Het
Gpr15 A C 16: 58,538,567 (GRCm39) L174R probably damaging Het
Hnrnph3 T A 10: 62,855,264 (GRCm39) H7L possibly damaging Het
Ide A T 19: 37,275,455 (GRCm39) I518N unknown Het
Igdcc4 G A 9: 65,040,360 (GRCm39) G957D probably damaging Het
Igsf10 G A 3: 59,226,027 (GRCm39) P2549S probably benign Het
Kcnj9 A G 1: 172,153,531 (GRCm39) S198P probably damaging Het
Lclat1 T C 17: 73,476,528 (GRCm39) I45T probably benign Het
Met T C 6: 17,553,346 (GRCm39) L1044S probably damaging Het
Msh4 T C 3: 153,563,160 (GRCm39) T739A probably benign Het
Ncam1 T C 9: 49,419,988 (GRCm39) E776G probably benign Het
Ndufv3 G A 17: 31,746,643 (GRCm39) V178M probably damaging Het
Nlgn1 T C 3: 25,488,409 (GRCm39) Y613C probably damaging Het
Orc1 T A 4: 108,452,676 (GRCm39) W184R probably benign Het
Pde6b T C 5: 108,579,407 (GRCm39) S850P probably benign Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Pnpt1 T C 11: 29,085,505 (GRCm39) probably benign Het
Pomt2 T A 12: 87,171,636 (GRCm39) H378L probably damaging Het
Sh3gl3 C T 7: 81,934,226 (GRCm39) probably benign Het
Thsd7a A T 6: 12,408,984 (GRCm39) N679K probably damaging Het
Tns2 T C 15: 102,019,850 (GRCm39) M572T probably benign Het
Twf2 C T 9: 106,089,955 (GRCm39) Q103* probably null Het
Uncx T C 5: 139,532,523 (GRCm39) I196T possibly damaging Het
Urgcp A G 11: 5,667,400 (GRCm39) S313P probably damaging Het
Vmn1r222 A T 13: 23,416,311 (GRCm39) C301S possibly damaging Het
Vmn2r111 T A 17: 22,790,031 (GRCm39) Q325L possibly damaging Het
Vps4a C T 8: 107,768,909 (GRCm39) R236W probably damaging Het
Wdr19 T A 5: 65,380,924 (GRCm39) H344Q probably damaging Het
Wiz A T 17: 32,578,443 (GRCm39) D356E probably damaging Het
Zc3h10 T C 10: 128,380,751 (GRCm39) E202G 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
IGL02619:Nmbr APN 10 14,636,331 (GRCm39) missense probably damaging 0.99
IGL03015:Nmbr APN 10 14,636,412 (GRCm39) missense probably damaging 1.00
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 2015-04-16