Incidental Mutation 'IGL01874:Nmbr'
ID 178816
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 # IGL01874
Quality Score
Status
Chromosome 10
Chromosomal Location 14634894-14647202 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14642696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 85 (Y85F)
Ref Sequence ENSEMBL: ENSMUSP00000140754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020015] [ENSMUST00000186382] [ENSMUST00000190114] [ENSMUST00000190751] [ENSMUST00000191238]
AlphaFold O54799
Predicted Effect probably benign
Transcript: ENSMUST00000020015
AA Change: Y233F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020015
Gene: ENSMUSG00000019865
AA Change: Y233F

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 probably benign
Transcript: ENSMUST00000186382
AA Change: Y233F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139612
Gene: ENSMUSG00000019865
AA Change: Y233F

DomainStartEndE-ValueType
Pfam:7tm_1 60 257 1.4e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190114
AA Change: Y85F

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000140754
Gene: ENSMUSG00000019865
AA Change: Y85F

DomainStartEndE-ValueType
Pfam:7tm_1 8 119 6.8e-10 PFAM
Predicted Effect probably benign
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220206
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
Adamts16 A T 13: 70,916,823 (GRCm39) V723D possibly damaging Het
Adgrb1 G A 15: 74,413,423 (GRCm39) V536I possibly damaging Het
Aox4 T C 1: 58,291,243 (GRCm39) L787S probably damaging Het
Atp2c1 A C 9: 105,326,024 (GRCm39) V293G probably damaging Het
Ccnb1 T C 13: 100,920,001 (GRCm39) D170G probably damaging Het
Cdc42 T C 4: 137,063,381 (GRCm39) I4V probably benign Het
Clip1 T C 5: 123,741,729 (GRCm39) Q1175R possibly damaging Het
Cox6a1 A G 5: 115,483,904 (GRCm39) *113Q probably null Het
Crtc2 C T 3: 90,165,815 (GRCm39) P139L probably damaging Het
Cyp8b1 A T 9: 121,744,969 (GRCm39) M121K possibly damaging Het
D630003M21Rik C A 2: 158,046,644 (GRCm39) G778C probably damaging Het
Dgat1 A G 15: 76,387,241 (GRCm39) F349L probably damaging Het
Enox1 A G 14: 77,816,602 (GRCm39) Y194C probably damaging Het
Fam120b T A 17: 15,623,301 (GRCm39) C426* probably null Het
Fxyd3 A G 7: 30,770,318 (GRCm39) probably benign Het
Gin1 A G 1: 97,710,797 (GRCm39) Y160C probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm11110 T A 17: 57,399,693 (GRCm39) probably benign Het
Gm1818 T C 12: 48,602,973 (GRCm39) noncoding transcript Het
Gucy1a2 T C 9: 3,797,343 (GRCm39) S598P probably damaging Het
Hook3 T A 8: 26,529,760 (GRCm39) N199Y possibly damaging Het
Il10ra A G 9: 45,178,458 (GRCm39) L41P probably damaging Het
Itgam C T 7: 127,714,338 (GRCm39) T949I probably damaging Het
Kctd3 A G 1: 188,729,188 (GRCm39) V123A probably damaging Het
Krt84 G A 15: 101,436,239 (GRCm39) A450V probably damaging Het
Lrrc7 G A 3: 157,946,080 (GRCm39) probably benign Het
Nckap1 A G 2: 80,355,980 (GRCm39) F608L probably damaging Het
Niban2 A T 2: 32,795,779 (GRCm39) probably null Het
Nol6 A C 4: 41,115,412 (GRCm39) L1135R probably damaging Het
Ntan1 T C 16: 13,653,077 (GRCm39) F278L probably benign Het
Or2n1e T A 17: 38,586,408 (GRCm39) S249T probably benign Het
Pcsk5 T A 19: 17,573,041 (GRCm39) T474S probably damaging Het
Pex11b T A 3: 96,550,883 (GRCm39) probably null Het
Pkhd1 G T 1: 20,173,459 (GRCm39) A3786E probably benign Het
Prkdc T C 16: 15,552,858 (GRCm39) I2098T possibly damaging Het
Prl2c5 T A 13: 13,365,362 (GRCm39) S169R probably benign Het
Ptbp2 A G 3: 119,541,449 (GRCm39) V196A probably damaging Het
Rad17 T C 13: 100,754,192 (GRCm39) probably benign Het
Skic2 T C 17: 35,060,185 (GRCm39) N114D probably benign Het
Slc47a2 T A 11: 61,203,685 (GRCm39) probably null Het
Srcin1 A T 11: 97,423,924 (GRCm39) M684K possibly damaging Het
Sspo T A 6: 48,429,124 (GRCm39) C298S probably damaging Het
Tenm3 G T 8: 48,689,793 (GRCm39) Y1915* probably null Het
Tnks1bp1 A G 2: 84,888,791 (GRCm39) T373A probably benign Het
Trp63 A C 16: 25,701,335 (GRCm39) N470H possibly damaging Het
Ttn T C 2: 76,628,907 (GRCm39) N12703S probably damaging Het
Ubr4 T C 4: 139,120,600 (GRCm39) probably benign Het
Vmn2r56 T A 7: 12,449,602 (GRCm39) Y212F probably benign Het
Other mutations in Nmbr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01617:Nmbr APN 10 14,646,173 (GRCm39) missense probably benign 0.19
IGL02616:Nmbr APN 10 14,636,431 (GRCm39) intron probably benign
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 2014-05-07