Incidental Mutation 'R0057:Nmbr'
ID 16877
Institutional Source Beutler Lab
Gene Symbol Nmbr
Ensembl Gene ENSMUSG00000019865
Gene Name neuromedin B receptor
Synonyms
MMRRC Submission 038351-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R0057 (G1)
Quality Score
Status Validated
Chromosome 10
Chromosomal Location 14634894-14647202 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 14636268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 79 (N79S)
Ref Sequence ENSEMBL: ENSMUSP00000140223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020015] [ENSMUST00000186382] [ENSMUST00000190114] [ENSMUST00000190751] [ENSMUST00000191238]
AlphaFold O54799
Predicted Effect possibly damaging
Transcript: ENSMUST00000020015
AA Change: N79S

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000020015
Gene: ENSMUSG00000019865
AA Change: N79S

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 possibly damaging
Transcript: ENSMUST00000186382
AA Change: N79S

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139612
Gene: ENSMUSG00000019865
AA Change: N79S

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: N79S

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140223
Gene: ENSMUSG00000019865
AA Change: N79S

DomainStartEndE-ValueType
Pfam:7tm_1 60 144 2.7e-21 PFAM
transmembrane domain 152 174 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191238
Meta Mutation Damage Score 0.7884 question?
Coding Region Coverage
  • 1x: 90.1%
  • 3x: 87.8%
  • 10x: 82.7%
  • 20x: 75.7%
Validation Efficiency 89% (65/73)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A T 11: 109,832,385 (GRCm39) F1309L possibly damaging Het
Abcc6 C T 7: 45,669,567 (GRCm39) A163T probably benign Het
Adam23 T A 1: 63,610,078 (GRCm39) H693Q probably damaging Het
Afg3l2 A G 18: 67,556,156 (GRCm39) F392L probably damaging Het
Ak9 A T 10: 41,268,724 (GRCm39) T1055S probably benign Het
Ap5z1 T C 5: 142,456,144 (GRCm39) probably benign Het
Arhgef10l A G 4: 140,338,529 (GRCm39) probably benign Het
Bloc1s6 T A 2: 122,586,141 (GRCm39) probably benign Het
Caskin1 A G 17: 24,723,870 (GRCm39) N886S probably damaging Het
Celsr1 A C 15: 85,914,963 (GRCm39) S1003R probably benign Het
Ctse G T 1: 131,591,109 (GRCm39) D97Y probably damaging Het
Cux1 T A 5: 136,285,136 (GRCm39) I505F probably damaging Het
Dcaf11 T C 14: 55,806,767 (GRCm39) V490A probably benign Het
Dscam A C 16: 96,474,936 (GRCm39) W1209G probably damaging Het
Emc8 A G 8: 121,385,822 (GRCm39) probably benign Het
Entpd6 A G 2: 150,600,748 (GRCm39) K152R probably null Het
Eps8l2 C T 7: 140,922,884 (GRCm39) T49I probably benign Het
Fcsk C T 8: 111,620,400 (GRCm39) probably benign Het
Gm12251 C A 11: 58,283,867 (GRCm39) probably benign Het
Gna11 A G 10: 81,366,774 (GRCm39) M312T probably benign Het
Hacd2 T A 16: 34,895,997 (GRCm39) V105D probably damaging Het
Il17a T A 1: 20,803,881 (GRCm39) I92N probably damaging Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Irak4 A C 15: 94,451,753 (GRCm39) R115S probably benign Het
Jarid2 C T 13: 45,038,332 (GRCm39) H77Y probably damaging Het
Kcnk6 A T 7: 28,925,088 (GRCm39) L176Q probably damaging Het
Kmt2b A T 7: 30,276,217 (GRCm39) probably benign Het
Kremen2 A C 17: 23,962,202 (GRCm39) I210S possibly damaging Het
Ldah T C 12: 8,288,432 (GRCm39) probably benign Het
Lgals9 A T 11: 78,862,262 (GRCm39) probably benign Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mfsd4b4 T A 10: 39,891,097 (GRCm38) probably benign Het
Msh4 C T 3: 153,575,318 (GRCm39) A686T probably benign Het
Mycbp2 T C 14: 103,389,578 (GRCm39) N3411D probably damaging Het
Myt1l A G 12: 29,892,611 (GRCm39) probably null Het
Npsr1 A T 9: 24,211,723 (GRCm39) I84F probably damaging Het
Or52h1 G T 7: 103,829,536 (GRCm39) H26Q probably benign Het
Or5m10b C A 2: 85,699,597 (GRCm39) Y220* probably null Het
Or6z5 T C 7: 6,477,679 (GRCm39) L190P probably damaging Het
Prlr A G 15: 10,328,509 (GRCm39) Y328C probably damaging Het
Rasal3 A G 17: 32,610,357 (GRCm39) S977P probably benign Het
Ros1 C T 10: 52,056,287 (GRCm39) V68I probably benign Het
Shmt2 G A 10: 127,356,917 (GRCm39) T31M possibly damaging Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Snrnp200 C G 2: 127,079,827 (GRCm39) L1899V probably damaging Het
Snrnp48 T A 13: 38,400,356 (GRCm39) C154* probably null Het
Tdrd6 G A 17: 43,928,052 (GRCm39) probably benign Het
Tmem175 C T 5: 108,787,428 (GRCm39) H92Y probably damaging Het
Tom1l1 G A 11: 90,575,975 (GRCm39) probably benign Het
Top3a C T 11: 60,631,510 (GRCm39) A951T probably benign Het
Tram2 C T 1: 21,076,378 (GRCm39) R184Q probably damaging Het
Trpc4ap T C 2: 155,482,406 (GRCm39) E528G possibly damaging Het
Vwa7 G A 17: 35,243,523 (GRCm39) S710N possibly damaging Het
Zfa-ps A T 10: 52,421,202 (GRCm39) noncoding transcript Het
Zfp770 T A 2: 114,027,713 (GRCm39) R119* probably null 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
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
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 2013-01-20