Incidental Mutation 'R6636:Nmbr'
ID |
525470 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nmbr
|
Ensembl Gene |
ENSMUSG00000019865 |
Gene Name |
neuromedin B receptor |
Synonyms |
|
MMRRC Submission |
044757-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R6636 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
14634894-14647202 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 14645978 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 168
(S168P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140223
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020015]
[ENSMUST00000186382]
[ENSMUST00000190114]
[ENSMUST00000190751]
[ENSMUST00000191238]
|
AlphaFold |
O54799 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020015
AA Change: V284A
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000020015 Gene: ENSMUSG00000019865 AA Change: V284A
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
AA Change: S168P
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000140223 Gene: ENSMUSG00000019865 AA Change: S168P
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.8%
|
Validation Efficiency |
98% (41/42) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
A |
G |
15: 64,659,251 (GRCm39) |
V513A |
probably damaging |
Het |
Adgrl4 |
G |
A |
3: 151,223,410 (GRCm39) |
W621* |
probably null |
Het |
Ap4m1 |
A |
G |
5: 138,170,437 (GRCm39) |
|
probably benign |
Het |
Atp6v1b2 |
T |
C |
8: 69,554,026 (GRCm39) |
Y68H |
probably damaging |
Het |
AY761185 |
T |
A |
8: 21,434,556 (GRCm39) |
|
probably null |
Het |
C3ar1 |
T |
C |
6: 122,828,013 (GRCm39) |
D68G |
probably damaging |
Het |
Cdh10 |
A |
T |
15: 18,985,259 (GRCm39) |
I308F |
probably damaging |
Het |
Coq8a |
A |
T |
1: 180,006,552 (GRCm39) |
S112T |
probably benign |
Het |
Dmgdh |
A |
T |
13: 93,845,706 (GRCm39) |
E453D |
probably benign |
Het |
Fryl |
C |
A |
5: 73,290,655 (GRCm39) |
R83L |
probably benign |
Het |
Gm4861 |
C |
T |
3: 137,256,760 (GRCm39) |
|
probably null |
Het |
Gnai1 |
T |
C |
5: 18,478,472 (GRCm39) |
D231G |
probably damaging |
Het |
Hfe |
C |
G |
13: 23,890,778 (GRCm39) |
E120D |
possibly damaging |
Het |
Hfe |
T |
C |
13: 23,890,779 (GRCm39) |
E120G |
possibly damaging |
Het |
Hgd |
A |
G |
16: 37,435,736 (GRCm39) |
N149S |
possibly damaging |
Het |
Kcnb1 |
T |
C |
2: 166,947,774 (GRCm39) |
D358G |
probably damaging |
Het |
Lama2 |
C |
A |
10: 27,000,564 (GRCm39) |
V1653L |
probably benign |
Het |
Lamc1 |
A |
T |
1: 153,117,721 (GRCm39) |
I947N |
possibly damaging |
Het |
Lamp3 |
A |
G |
16: 19,519,983 (GRCm39) |
F67L |
probably benign |
Het |
Ltbp2 |
T |
C |
12: 84,922,612 (GRCm39) |
I132V |
probably benign |
Het |
Muc4 |
C |
T |
16: 32,575,255 (GRCm39) |
P1280L |
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,372,342 (GRCm39) |
Y2659H |
possibly damaging |
Het |
Nsl1 |
A |
G |
1: 190,807,324 (GRCm39) |
T168A |
probably benign |
Het |
Or2g7 |
G |
A |
17: 38,378,115 (GRCm39) |
D18N |
probably damaging |
Het |
Or4a27 |
T |
C |
2: 88,559,185 (GRCm39) |
I253V |
probably benign |
Het |
Or5b113 |
T |
C |
19: 13,342,589 (GRCm39) |
V199A |
probably benign |
Het |
Or8s5 |
A |
G |
15: 98,238,831 (GRCm39) |
F13S |
probably benign |
Het |
Pde1c |
A |
C |
6: 56,157,087 (GRCm39) |
V191G |
probably damaging |
Het |
Proc |
T |
A |
18: 32,256,813 (GRCm39) |
I285F |
probably benign |
Het |
R3hdm1 |
GAA |
GAAA |
1: 128,090,548 (GRCm39) |
|
probably null |
Het |
Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
Spa17 |
A |
T |
9: 37,523,270 (GRCm39) |
S6T |
probably benign |
Het |
Spp1 |
T |
C |
5: 104,588,396 (GRCm39) |
V267A |
possibly damaging |
Het |
Stk17b |
A |
T |
1: 53,800,247 (GRCm39) |
Y244N |
probably damaging |
Het |
Tal1 |
A |
G |
4: 114,925,789 (GRCm39) |
N286S |
probably damaging |
Het |
Tgm7 |
T |
A |
2: 120,931,571 (GRCm39) |
R197S |
probably damaging |
Het |
Tmcc3 |
T |
A |
10: 94,414,286 (GRCm39) |
V27E |
probably benign |
Het |
Topaz1 |
A |
T |
9: 122,578,851 (GRCm39) |
Q587L |
probably benign |
Het |
Trim33 |
C |
T |
3: 103,261,035 (GRCm39) |
A1061V |
probably damaging |
Het |
Ttll1 |
C |
G |
15: 83,384,147 (GRCm39) |
W160S |
probably damaging |
Het |
Utp25 |
A |
T |
1: 192,796,075 (GRCm39) |
F197I |
probably damaging |
Het |
Wnt7a |
A |
G |
6: 91,371,540 (GRCm39) |
Y141H |
probably benign |
Het |
|
Other mutations in Nmbr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTGGGAACATCTCATGCCC -3'
(R):5'- TTACTGCTGACGAGCTGAGG -3'
Sequencing Primer
(F):5'- GGAACATCTCATGCCCTGACTAAC -3'
(R):5'- ACCTCTCGGGATAGGACTTC -3'
|
Posted On |
2018-06-22 |