Incidental Mutation 'R8942:Nmbr'
ID 681052
Institutional Source Beutler Lab
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 # R8942 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 14634894-14647202 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 14646197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 357 (S357L)
Ref Sequence ENSEMBL: ENSMUSP00000020015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020015] [ENSMUST00000186382] [ENSMUST00000190114] [ENSMUST00000190751] [ENSMUST00000191238]
AlphaFold O54799
Predicted Effect probably benign
Transcript: ENSMUST00000020015
AA Change: S357L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000020015
Gene: ENSMUSG00000019865
AA Change: S357L

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
SMART Domains Protein: ENSMUSP00000139612
Gene: ENSMUSG00000019865

DomainStartEndE-ValueType
Pfam:7tm_1 60 257 1.4e-40 PFAM
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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,790,732 (GRCm39) D833E probably damaging Het
Adgrl3 A T 5: 81,796,568 (GRCm39) I626L probably benign Het
AI182371 A C 2: 34,990,622 (GRCm39) L25R probably damaging Het
Atp2b2 G T 6: 113,790,991 (GRCm39) Q138K probably benign Het
Atp8b5 T C 4: 43,353,658 (GRCm39) F491L probably damaging Het
Bcap29 T A 12: 31,684,353 (GRCm39) M1L probably damaging Het
C1qtnf7 A G 5: 43,773,583 (GRCm39) D294G probably benign Het
Ccdc170 C T 10: 4,484,044 (GRCm39) A290V probably benign Het
Cfhr2 A T 1: 139,741,292 (GRCm39) L228I probably benign Het
Clip4 T A 17: 72,170,768 (GRCm39) V645D probably benign Het
Cyp4a31 C T 4: 115,426,918 (GRCm39) R173W possibly damaging Het
Dis3l T C 9: 64,214,875 (GRCm39) K898R probably benign Het
Efr3b G T 12: 4,032,091 (GRCm39) H172Q possibly damaging Het
Eipr1 A T 12: 28,917,053 (GRCm39) N374Y probably damaging Het
Exoc3l4 A T 12: 111,392,002 (GRCm39) E414D possibly damaging Het
Exoc3l4 G T 12: 111,392,003 (GRCm39) V415L probably benign Het
Faap100 G T 11: 120,267,856 (GRCm39) H306N possibly damaging Het
Gapvd1 T C 2: 34,619,134 (GRCm39) T80A probably benign Het
Gen1 A G 12: 11,292,287 (GRCm39) S501P probably benign Het
Gm10643 A G 8: 84,790,799 (GRCm39) probably benign Het
Hecw1 A T 13: 14,481,395 (GRCm39) V445D probably benign Het
Hells CT C 19: 38,942,045 (GRCm39) probably null Het
Hnrnpr T G 4: 136,059,791 (GRCm39) D197E possibly damaging Het
Hspb1 G A 5: 135,916,928 (GRCm39) V6M probably damaging Het
Iglon5 A G 7: 43,126,315 (GRCm39) V196A probably benign Het
Ints2 T C 11: 86,103,720 (GRCm39) T1142A probably benign Het
Katnip T G 7: 125,449,975 (GRCm39) L1013R probably damaging Het
Kcnq2 T A 2: 180,724,244 (GRCm39) D587V probably damaging Het
Lmln C T 16: 32,901,330 (GRCm39) P242L probably damaging Het
Mapt G A 11: 104,173,307 (GRCm39) probably null Het
Mrgpre T C 7: 143,335,002 (GRCm39) Y167C Het
Mtx2 A T 2: 74,699,696 (GRCm39) I156F probably benign Het
Nipbl A T 15: 8,381,104 (GRCm39) S563T probably benign Het
Or10ak14 A T 4: 118,611,594 (GRCm39) I49N possibly damaging Het
Or4e1 A C 14: 52,700,692 (GRCm39) I258S probably damaging Het
Or4f14 T A 2: 111,743,207 (GRCm39) I23F probably benign Het
Or4f60 T C 2: 111,902,802 (GRCm39) N42S probably damaging Het
Or4k15b A C 14: 50,272,602 (GRCm39) L86R probably damaging Het
Or4p4 C T 2: 88,483,308 (GRCm39) L271F possibly damaging Het
Pctp A G 11: 89,875,554 (GRCm39) M203T possibly damaging Het
Pip4k2c A G 10: 127,036,084 (GRCm39) V261A probably benign Het
Pm20d1 G T 1: 131,739,785 (GRCm39) V378F possibly damaging Het
Ppcdc C T 9: 57,342,265 (GRCm39) R19H probably benign Het
Pramel26 T C 4: 143,536,861 (GRCm39) N490S probably benign Het
Sdk1 A G 5: 142,082,598 (GRCm39) E1332G probably damaging Het
Sgce G T 6: 4,730,027 (GRCm39) L66M probably benign Het
Sycp2l G T 13: 41,277,522 (GRCm39) probably null Het
Tars1 G T 15: 11,384,183 (GRCm39) H695N probably benign Het
Tdo2 A G 3: 81,876,851 (GRCm39) V107A probably benign Het
Tmem131l A T 3: 83,805,793 (GRCm39) M1550K possibly damaging Het
Ttf2 A C 3: 100,869,042 (GRCm39) S431R probably benign Het
Unc80 A G 1: 66,512,468 (GRCm39) D126G possibly damaging Het
Usp17lb C T 7: 104,490,583 (GRCm39) V115I possibly damaging Het
Vezf1 A G 11: 87,972,553 (GRCm39) T305A probably benign Het
Vmn1r45 A T 6: 89,910,876 (GRCm39) N31K probably benign Het
Wdr59 T C 8: 112,211,808 (GRCm39) K380E probably benign Het
Xylt1 T A 7: 117,233,971 (GRCm39) Y499* probably null Het
Zfp777 T C 6: 48,006,125 (GRCm39) E467G probably benign Het
Zkscan4 C A 13: 21,668,680 (GRCm39) P406Q 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
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
Z1177:Nmbr UTSW 10 14,646,071 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CTTCTCTCGGGCACATGATC -3'
(R):5'- TCTCCTGATGAATTAGCTAGGGAG -3'

Sequencing Primer
(F):5'- GCACATGATCGTCACCTTAGTGG -3'
(R):5'- ACATTATTTAGTTCTGCTTTGCTACG -3'
Posted On 2021-08-31