Incidental Mutation 'R6895:Nmbr'
| ID |
543632 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nmbr
|
| Ensembl Gene |
ENSMUSG00000019865 |
| Gene Name |
neuromedin B receptor |
| Synonyms |
|
| MMRRC Submission |
044989-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R6895 (G1)
|
| Quality Score |
122.008 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
14634894-14647202 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to T
at 14645704 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tyrosine
at position 258
(*258Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020015]
[ENSMUST00000186382]
[ENSMUST00000190114]
[ENSMUST00000190751]
[ENSMUST00000191238]
|
| AlphaFold |
O54799 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020015
|
| SMART Domains |
Protein: ENSMUSP00000020015
Gene: ENSMUSG00000019865
| 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 null
Transcript: ENSMUST00000186382
AA Change: *258Y
|
| SMART Domains |
Protein: ENSMUSP00000139612
Gene: ENSMUSG00000019865
AA Change: *258Y
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
100% (45/45) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd29 |
A |
G |
18: 12,394,046 (GRCm39) |
V256A |
probably benign |
Het |
| Arid4a |
A |
G |
12: 71,110,076 (GRCm39) |
D139G |
probably benign |
Het |
| AU040320 |
T |
C |
4: 126,685,723 (GRCm39) |
W100R |
probably damaging |
Het |
| C4bp |
T |
C |
1: 130,563,943 (GRCm39) |
*470W |
probably null |
Het |
| Capn8 |
C |
A |
1: 182,456,234 (GRCm39) |
D661E |
possibly damaging |
Het |
| Car14 |
T |
C |
3: 95,805,472 (GRCm39) |
T334A |
probably benign |
Het |
| Cfhr4 |
G |
A |
1: 139,668,210 (GRCm39) |
P308S |
possibly damaging |
Het |
| Chd6 |
T |
A |
2: 160,830,260 (GRCm39) |
T1012S |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,529,910 (GRCm39) |
|
probably null |
Het |
| Dnaaf2 |
A |
G |
12: 69,244,437 (GRCm39) |
V208A |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,958,926 (GRCm39) |
W2986R |
probably damaging |
Het |
| Epb42 |
G |
A |
2: 120,867,104 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
A |
G |
13: 49,045,497 (GRCm39) |
F780L |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Grid2 |
T |
C |
6: 64,372,283 (GRCm39) |
F655S |
probably damaging |
Het |
| Homer3 |
T |
C |
8: 70,737,955 (GRCm39) |
S2P |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,038,883 (GRCm39) |
V207A |
probably benign |
Het |
| Inpp5j |
T |
C |
11: 3,445,557 (GRCm39) |
|
probably null |
Het |
| Jak1 |
C |
T |
4: 101,011,734 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
A |
G |
10: 67,052,869 (GRCm39) |
I220V |
probably benign |
Het |
| Kat6a |
T |
G |
8: 23,425,799 (GRCm39) |
S1115A |
possibly damaging |
Het |
| Larp4 |
T |
G |
15: 99,905,611 (GRCm39) |
|
probably null |
Het |
| Lrrc72 |
T |
G |
12: 36,259,717 (GRCm39) |
D43A |
probably damaging |
Het |
| Mptx2 |
A |
C |
1: 173,105,252 (GRCm39) |
V13G |
probably benign |
Het |
| Nup210l |
C |
T |
3: 90,067,231 (GRCm39) |
A757V |
probably damaging |
Het |
| Nup62 |
A |
G |
7: 44,479,157 (GRCm39) |
K391E |
possibly damaging |
Het |
| Nup93 |
T |
A |
8: 94,970,314 (GRCm39) |
I71K |
probably damaging |
Het |
| Or14a256 |
A |
T |
7: 86,265,323 (GRCm39) |
C177S |
probably damaging |
Het |
| Or8b51 |
A |
C |
9: 38,569,385 (GRCm39) |
L101R |
probably damaging |
Het |
| Pik3cg |
A |
G |
12: 32,254,346 (GRCm39) |
M547T |
possibly damaging |
Het |
| Ropn1 |
A |
T |
16: 34,497,668 (GRCm39) |
I187F |
possibly damaging |
Het |
| Rtp3 |
T |
C |
9: 110,816,264 (GRCm39) |
R96G |
possibly damaging |
Het |
| Sfrp5 |
A |
T |
19: 42,188,227 (GRCm39) |
S197R |
probably damaging |
Het |
| Slc12a6 |
A |
G |
2: 112,185,440 (GRCm39) |
H903R |
probably damaging |
Het |
| Slc26a3 |
G |
T |
12: 31,513,523 (GRCm39) |
A482S |
probably damaging |
Het |
| Slc2a12 |
G |
T |
10: 22,568,084 (GRCm39) |
A504S |
probably damaging |
Het |
| Slitrk5 |
C |
A |
14: 111,919,085 (GRCm39) |
P903Q |
probably damaging |
Het |
| Tas2r123 |
A |
T |
6: 132,824,133 (GRCm39) |
H10L |
probably benign |
Het |
| Tex46 |
T |
C |
4: 136,340,212 (GRCm39) |
V99A |
probably benign |
Het |
| Top2b |
T |
C |
14: 16,413,604 (GRCm38) |
V1024A |
probably benign |
Het |
| Ugt2b36 |
G |
A |
5: 87,240,157 (GRCm39) |
T76I |
probably benign |
Het |
| Usp31 |
G |
T |
7: 121,252,399 (GRCm39) |
T747K |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
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 |
|
R6636:Nmbr
|
UTSW |
10 |
14,645,978 (GRCm39) |
missense |
probably benign |
0.23 |
|
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'- CTACTTGTATTAAAGAGGGGCAGAG -3'
(R):5'- CCCACTGGTCAAAAGGAAATGG -3'
Sequencing Primer
(F):5'- AAAATTAGTCCTCTTTCATCAGGTC -3'
(R):5'- CTGGTCAAAAGGAAATGGAGTCATCC -3'
|
| Posted On |
2019-04-11 |
Incidental Mutation