Incidental Mutation 'R0057:Nmbr'
Institutional Source Beutler Lab
Gene Symbol Nmbr
Ensembl Gene ENSMUSG00000019865
Gene Nameneuromedin B receptor
MMRRC Submission 038351-MU
Accession Numbers

Genbank: NM_008703

Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #R0057 (G1)
Quality Score
Status Validated
Chromosomal Location14705591-14770850 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 14760524 bp
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]
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

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

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

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

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 0.282 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: 109,941,559 F1309L possibly damaging Het
Abcc6 C T 7: 46,020,143 A163T probably benign Het
Adam23 T A 1: 63,570,919 H693Q probably damaging Het
Afg3l2 A G 18: 67,423,086 F392L probably damaging Het
Ak9 A T 10: 41,392,728 T1055S probably benign Het
Ap5z1 T C 5: 142,470,389 probably benign Het
Arhgef10l A G 4: 140,611,218 probably benign Het
Bloc1s6 T A 2: 122,744,221 probably benign Het
Caskin1 A G 17: 24,504,896 N886S probably damaging Het
Celsr1 A C 15: 86,030,762 S1003R probably benign Het
Ctse G T 1: 131,663,371 D97Y probably damaging Het
Cux1 T A 5: 136,256,282 I505F probably damaging Het
Dcaf11 T C 14: 55,569,310 V490A probably benign Het
Dscam A C 16: 96,673,736 W1209G probably damaging Het
Emc8 A G 8: 120,659,083 probably benign Het
Entpd6 A G 2: 150,758,828 K152R probably null Het
Eps8l2 C T 7: 141,342,971 T49I probably benign Het
Fuk C T 8: 110,893,768 probably benign Het
Gm12251 C A 11: 58,393,041 probably benign Het
Gna11 A G 10: 81,530,940 M312T probably benign Het
Hacd2 T A 16: 35,075,627 V105D probably damaging Het
Il17a T A 1: 20,733,657 I92N probably damaging Het
Ino80 G A 2: 119,382,960 R1249C probably damaging Het
Irak4 A C 15: 94,553,872 R115S probably benign Het
Jarid2 C T 13: 44,884,856 H77Y probably damaging Het
Kcnk6 A T 7: 29,225,663 L176Q probably damaging Het
Kmt2b A T 7: 30,576,792 probably benign Het
Kremen2 A C 17: 23,743,228 I210S possibly damaging Het
Ldah T C 12: 8,238,432 probably benign Het
Lgals9 A T 11: 78,971,436 probably benign Het
Mfsd13a C T 19: 46,366,504 T40I probably benign Het
Msh4 C T 3: 153,869,681 A686T probably benign Het
Mycbp2 T C 14: 103,152,142 N3411D probably damaging Het
Myt1l A G 12: 29,842,612 probably null Het
Npsr1 A T 9: 24,300,427 I84F probably damaging Het
Olfr1022 C A 2: 85,869,253 Y220* probably null Het
Olfr1346 T C 7: 6,474,680 L190P probably damaging Het
Olfr648 G T 7: 104,180,329 H26Q probably benign Het
Prlr A G 15: 10,328,423 Y328C probably damaging Het
Rasal3 A G 17: 32,391,383 S977P probably benign Het
Ros1 C T 10: 52,180,191 V68I probably benign Het
RP24-170A20.3 T A 10: 39,891,097 probably benign Het
Shmt2 G A 10: 127,521,048 T31M possibly damaging Het
Snapc1 C T 12: 73,975,032 R81C probably damaging Het
Snrnp200 C G 2: 127,237,907 L1899V probably damaging Het
Snrnp48 T A 13: 38,216,380 C154* probably null Het
Tdrd6 G A 17: 43,617,161 probably benign Het
Tmem175 C T 5: 108,639,562 H92Y probably damaging Het
Tom1l1 G A 11: 90,685,149 probably benign Het
Top3a C T 11: 60,740,684 A951T probably benign Het
Tram2 C T 1: 21,006,154 R184Q probably damaging Het
Trpc4ap T C 2: 155,640,486 E528G possibly damaging Het
Vwa7 G A 17: 35,024,547 S710N possibly damaging Het
Zfa-ps A T 10: 52,545,106 noncoding transcript Het
Zfp770 T A 2: 114,197,232 R119* probably null Het
Other mutations in Nmbr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01617:Nmbr APN 10 14770429 missense probably benign 0.19
IGL01874:Nmbr APN 10 14766952 missense probably benign 0.09
IGL02616:Nmbr APN 10 14760687 intron probably benign
IGL02619:Nmbr APN 10 14760587 missense probably damaging 0.99
IGL03015:Nmbr APN 10 14760668 missense probably damaging 1.00
G5030:Nmbr UTSW 10 14767003 missense possibly damaging 0.95
R0238:Nmbr UTSW 10 14770395 nonsense probably null
R0238:Nmbr UTSW 10 14770395 nonsense probably null
R0324:Nmbr UTSW 10 14760448 missense possibly damaging 0.50
R1252:Nmbr UTSW 10 14760443 missense probably benign 0.09
R1812:Nmbr UTSW 10 14760539 intron probably null
R1831:Nmbr UTSW 10 14766865 missense probably benign 0.36
R2140:Nmbr UTSW 10 14770442 nonsense probably null
R2141:Nmbr UTSW 10 14770442 nonsense probably null
R4604:Nmbr UTSW 10 14770164 missense probably damaging 1.00
R4936:Nmbr UTSW 10 14766986 missense probably damaging 1.00
R5965:Nmbr UTSW 10 14766810 missense probably benign 0.01
R6636:Nmbr UTSW 10 14770234 missense probably benign 0.23
R6895:Nmbr UTSW 10 14769960 makesense probably null
Posted On2013-01-20