Incidental Mutation 'IGL01617:Nmbr'
| ID |
92405 |
| 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)
|
| Stock # |
IGL01617
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
14634894-14647202 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 14646173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Methionine
at position 349
(R349M)
|
| 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: R349M
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000020015
Gene: ENSMUSG00000019865
AA Change: R349M
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
60 |
257 |
1.4e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190114
|
| SMART Domains |
Protein: ENSMUSP00000140754
Gene: ENSMUSG00000019865
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
8 |
119 |
6.8e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190751
|
| SMART Domains |
Protein: ENSMUSP00000140223
Gene: ENSMUSG00000019865
| Domain | Start | End | E-Value | Type |
|---|
|
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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,115,149 (GRCm39) |
I160F |
possibly damaging |
Het |
| Cacna1d |
C |
T |
14: 29,824,328 (GRCm39) |
A1030T |
probably damaging |
Het |
| Ceacam13 |
A |
T |
7: 17,745,308 (GRCm39) |
D126V |
possibly damaging |
Het |
| Cep68 |
G |
T |
11: 20,189,510 (GRCm39) |
Q501K |
probably benign |
Het |
| Cfhr1 |
A |
T |
1: 139,481,417 (GRCm39) |
C154* |
probably null |
Het |
| Chd3 |
A |
G |
11: 69,249,060 (GRCm39) |
|
probably benign |
Het |
| Chrna5 |
A |
G |
9: 54,912,297 (GRCm39) |
M262V |
probably damaging |
Het |
| Csrnp2 |
T |
C |
15: 100,382,524 (GRCm39) |
Y172C |
probably benign |
Het |
| Dzip1 |
G |
T |
14: 119,118,477 (GRCm39) |
P752Q |
probably benign |
Het |
| Frem1 |
G |
A |
4: 82,854,376 (GRCm39) |
T1630I |
probably benign |
Het |
| Gabrr1 |
G |
A |
4: 33,162,634 (GRCm39) |
S400N |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,547,783 (GRCm39) |
A2723T |
probably benign |
Het |
| Htt |
A |
G |
5: 35,034,099 (GRCm39) |
H1895R |
possibly damaging |
Het |
| Kif21a |
T |
C |
15: 90,879,840 (GRCm39) |
|
probably benign |
Het |
| Mitf |
A |
G |
6: 97,973,389 (GRCm39) |
I241V |
probably benign |
Het |
| Mterf1b |
A |
T |
5: 4,246,503 (GRCm39) |
D48V |
probably benign |
Het |
| Pik3r4 |
T |
C |
9: 105,532,164 (GRCm39) |
S579P |
probably benign |
Het |
| Polr2i |
T |
C |
7: 29,931,817 (GRCm39) |
F16S |
possibly damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Rgs11 |
A |
G |
17: 26,427,224 (GRCm39) |
H385R |
probably damaging |
Het |
| Rufy4 |
G |
A |
1: 74,168,513 (GRCm39) |
G99R |
probably damaging |
Het |
| Slc29a1 |
A |
G |
17: 45,900,375 (GRCm39) |
F185S |
probably benign |
Het |
| Spag17 |
G |
A |
3: 100,016,824 (GRCm39) |
V2200I |
possibly damaging |
Het |
| Trappc14 |
A |
T |
5: 138,260,478 (GRCm39) |
L47Q |
probably damaging |
Het |
| Ttc7b |
G |
T |
12: 100,352,215 (GRCm39) |
A414D |
possibly damaging |
Het |
| Ugt2b37 |
A |
T |
5: 87,399,738 (GRCm39) |
W257R |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,974,482 (GRCm39) |
I381M |
possibly damaging |
Het |
|
| Other mutations in Nmbr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-12-09 |
Incidental Mutation