Incidental Mutation 'R1252:Nmbr'
| ID |
151806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nmbr
|
| Ensembl Gene |
ENSMUSG00000019865 |
| Gene Name |
neuromedin B receptor |
| Synonyms |
|
| MMRRC Submission |
039319-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R1252 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
14634894-14647202 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14636187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 52
(I52T)
|
| 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
AA Change: I52T
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000020015
Gene: ENSMUSG00000019865
AA Change: I52T
| 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 |
noncoding transcript
Transcript: ENSMUST00000181479
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186382
AA Change: I52T
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000139612
Gene: ENSMUSG00000019865
AA Change: I52T
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
8 |
119 |
6.8e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190751
AA Change: I52T
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000140223
Gene: ENSMUSG00000019865
AA Change: I52T
| 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
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.2%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Acsm2 |
C |
T |
7: 119,172,468 (GRCm39) |
H104Y |
probably benign |
Het |
| Adgrb3 |
G |
A |
1: 25,167,909 (GRCm39) |
T1009M |
probably damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,701,877 (GRCm39) |
K755E |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,367,140 (GRCm39) |
D2491E |
probably damaging |
Het |
| Bptf |
A |
G |
11: 106,964,077 (GRCm39) |
S1706P |
probably benign |
Het |
| Capn13 |
C |
T |
17: 73,674,222 (GRCm39) |
G77D |
possibly damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Cdhr18 |
T |
C |
14: 13,862,444 (GRCm38) |
D370G |
probably benign |
Het |
| Cep135 |
A |
G |
5: 76,741,962 (GRCm39) |
K133E |
possibly damaging |
Het |
| Cyp2c67 |
A |
G |
19: 39,614,585 (GRCm39) |
M314T |
possibly damaging |
Het |
| Dennd5b |
T |
C |
6: 148,945,985 (GRCm39) |
D542G |
probably damaging |
Het |
| Dpys |
A |
T |
15: 39,687,636 (GRCm39) |
N387K |
probably damaging |
Het |
| Erc1 |
A |
T |
6: 119,720,353 (GRCm39) |
D749E |
possibly damaging |
Het |
| Gucy2e |
A |
T |
11: 69,126,485 (GRCm39) |
F298L |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,239,269 (GRCm39) |
V304A |
probably benign |
Het |
| Kmt2b |
A |
T |
7: 30,279,912 (GRCm39) |
C1363S |
probably damaging |
Het |
| Krt87 |
A |
G |
15: 101,385,711 (GRCm39) |
Y295H |
probably damaging |
Het |
| Lmo7 |
T |
C |
14: 102,138,019 (GRCm39) |
V396A |
probably damaging |
Het |
| Lpl |
A |
G |
8: 69,345,311 (GRCm39) |
D105G |
probably benign |
Het |
| Lrrc45 |
C |
A |
11: 120,606,297 (GRCm39) |
T135N |
probably benign |
Het |
| Ltn1 |
C |
T |
16: 87,212,918 (GRCm39) |
A548T |
probably benign |
Het |
| Nectin2 |
T |
G |
7: 19,451,523 (GRCm39) |
I504L |
probably benign |
Het |
| Nop14 |
A |
T |
5: 34,807,899 (GRCm39) |
N354K |
probably benign |
Het |
| Olfm1 |
A |
G |
2: 28,119,447 (GRCm39) |
I361V |
probably benign |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Ovol1 |
T |
C |
19: 5,603,629 (GRCm39) |
T91A |
probably benign |
Het |
| Pigz |
T |
A |
16: 31,760,808 (GRCm39) |
V3E |
possibly damaging |
Het |
| Pip4k2b |
T |
C |
11: 97,635,420 (GRCm39) |
N4S |
probably benign |
Het |
| Slc23a2 |
A |
T |
2: 131,904,117 (GRCm39) |
|
probably null |
Het |
| Slc66a2 |
A |
G |
18: 80,334,813 (GRCm39) |
T211A |
possibly damaging |
Het |
| Speg |
A |
T |
1: 75,403,739 (GRCm39) |
D2640V |
probably damaging |
Het |
| Trip12 |
G |
A |
1: 84,754,071 (GRCm39) |
Q111* |
probably null |
Het |
| Trub2 |
A |
G |
2: 29,672,170 (GRCm39) |
F141S |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,693,729 (GRCm39) |
|
probably null |
Het |
| Zfp935 |
A |
G |
13: 62,602,355 (GRCm39) |
F282L |
probably damaging |
Het |
| Zfp946 |
G |
T |
17: 22,672,560 (GRCm39) |
|
probably null |
Het |
| Zkscan4 |
A |
G |
13: 21,668,044 (GRCm39) |
E165G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAAGAAAACTCCTGCGAGTTCC -3'
(R):5'- CATGCTTTTCTCGGTGGCACAC -3'
Sequencing Primer
(F):5'- TGCGAGTTCCCTGGGAAAAG -3'
(R):5'- ATGAGTTTGCAGCCCAGC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation