Incidental Mutation 'IGL00391:Nmur1'
| ID |
7419 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nmur1
|
| Ensembl Gene |
ENSMUSG00000026237 |
| Gene Name |
neuromedin U receptor 1 |
| Synonyms |
NmU-R, NMU1R, Gpr66, FM-3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00391
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
86313964-86317083 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 86314193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 381
(R381C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027440]
[ENSMUST00000212058]
[ENSMUST00000212541]
[ENSMUST00000212614]
|
| AlphaFold |
O55040 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027440
AA Change: R358C
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027440
Gene: ENSMUSG00000026237
AA Change: R358C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
40 |
231 |
4.1e-8 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
48 |
349 |
2.6e-8 |
PFAM |
|
Pfam:7tm_1
|
54 |
334 |
7.8e-50 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212058
AA Change: R381C
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212541
AA Change: R325C
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212614
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice are healthy and viable. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
T |
8: 44,078,666 (GRCm39) |
F519L |
probably damaging |
Het |
| Adgrl3 |
G |
A |
5: 81,872,071 (GRCm39) |
V990M |
probably damaging |
Het |
| Ap4b1 |
A |
G |
3: 103,728,858 (GRCm39) |
T499A |
probably benign |
Het |
| Cacna2d4 |
T |
C |
6: 119,314,894 (GRCm39) |
|
probably benign |
Het |
| Ccr5 |
T |
A |
9: 123,924,443 (GRCm39) |
D15E |
possibly damaging |
Het |
| Clca4b |
A |
G |
3: 144,621,322 (GRCm39) |
V584A |
possibly damaging |
Het |
| Cmtr1 |
T |
C |
17: 29,893,236 (GRCm39) |
M85T |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,755,977 (GRCm39) |
H104L |
probably damaging |
Het |
| Coq9 |
A |
T |
8: 95,577,145 (GRCm39) |
K170M |
probably damaging |
Het |
| Elmod1 |
A |
G |
9: 53,831,682 (GRCm39) |
|
probably null |
Het |
| Fam47e |
A |
C |
5: 92,727,522 (GRCm39) |
E143D |
probably damaging |
Het |
| Faxc |
A |
G |
4: 21,948,725 (GRCm39) |
K146E |
probably damaging |
Het |
| Myo7b |
A |
C |
18: 32,154,609 (GRCm39) |
|
probably benign |
Het |
| Nsd2 |
T |
G |
5: 34,013,077 (GRCm39) |
D469E |
probably damaging |
Het |
| Osbpl6 |
G |
A |
2: 76,420,783 (GRCm39) |
C786Y |
probably damaging |
Het |
| Osgin2 |
T |
C |
4: 16,006,439 (GRCm39) |
Y85C |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,532,967 (GRCm39) |
C1587R |
probably damaging |
Het |
| Plaat5 |
A |
T |
19: 7,596,631 (GRCm39) |
|
probably benign |
Het |
| Plekha2 |
A |
G |
8: 25,547,343 (GRCm39) |
V247A |
probably damaging |
Het |
| Plppr5 |
A |
T |
3: 117,465,592 (GRCm39) |
N281I |
possibly damaging |
Het |
| Popdc3 |
A |
G |
10: 45,193,922 (GRCm39) |
|
probably null |
Het |
| Ppp1r12a |
A |
G |
10: 108,034,709 (GRCm39) |
N85D |
probably damaging |
Het |
| Serpinb8 |
A |
G |
1: 107,534,714 (GRCm39) |
S262G |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,474,320 (GRCm39) |
G4780R |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,648,258 (GRCm39) |
E4621G |
probably damaging |
Het |
|
| Other mutations in Nmur1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00494:Nmur1
|
APN |
1 |
86,314,084 (GRCm39) |
missense |
probably benign |
|
|
IGL01420:Nmur1
|
APN |
1 |
86,315,113 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02505:Nmur1
|
APN |
1 |
86,314,057 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0391:Nmur1
|
UTSW |
1 |
86,315,400 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1235:Nmur1
|
UTSW |
1 |
86,314,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4213:Nmur1
|
UTSW |
1 |
86,315,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4432:Nmur1
|
UTSW |
1 |
86,315,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4583:Nmur1
|
UTSW |
1 |
86,314,367 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4718:Nmur1
|
UTSW |
1 |
86,315,463 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6027:Nmur1
|
UTSW |
1 |
86,315,053 (GRCm39) |
nonsense |
probably null |
|
|
R7025:Nmur1
|
UTSW |
1 |
86,315,570 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7097:Nmur1
|
UTSW |
1 |
86,315,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7173:Nmur1
|
UTSW |
1 |
86,314,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7436:Nmur1
|
UTSW |
1 |
86,314,100 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7601:Nmur1
|
UTSW |
1 |
86,315,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8920:Nmur1
|
UTSW |
1 |
86,315,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8985:Nmur1
|
UTSW |
1 |
86,314,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9088:Nmur1
|
UTSW |
1 |
86,315,252 (GRCm39) |
missense |
probably benign |
|
|
R9198:Nmur1
|
UTSW |
1 |
86,315,256 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation