Incidental Mutation 'R1235:Nmur1'
| ID |
152397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nmur1
|
| Ensembl Gene |
ENSMUSG00000026237 |
| Gene Name |
neuromedin U receptor 1 |
| Synonyms |
NmU-R, NMU1R, Gpr66, FM-3 |
| MMRRC Submission |
039303-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1235 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
86313964-86317083 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 86314415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 307
(G307S)
|
| 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: G284S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027440
Gene: ENSMUSG00000026237
AA Change: G284S
| 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: G307S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212541
AA Change: G251S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212614
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.5%
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arsg |
T |
C |
11: 109,424,933 (GRCm39) |
|
probably null |
Het |
| Col6a1 |
C |
A |
10: 76,548,158 (GRCm39) |
A633S |
unknown |
Het |
| Dnajb3 |
C |
T |
1: 88,133,201 (GRCm39) |
R67H |
probably benign |
Het |
| Fam53c |
T |
A |
18: 34,901,311 (GRCm39) |
L76Q |
probably damaging |
Het |
| Gys2 |
A |
T |
6: 142,376,019 (GRCm39) |
Y548N |
probably damaging |
Het |
| Kcnh3 |
T |
A |
15: 99,139,984 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
C |
T |
2: 69,354,380 (GRCm39) |
V483I |
probably damaging |
Het |
| Myom3 |
A |
T |
4: 135,516,854 (GRCm39) |
Y808F |
probably benign |
Het |
| Or8w1 |
T |
G |
2: 87,465,159 (GRCm39) |
|
probably null |
Het |
| Pcdhb13 |
T |
C |
18: 37,578,012 (GRCm39) |
*797Q |
probably null |
Het |
| Plcb4 |
G |
A |
2: 135,814,868 (GRCm39) |
G719R |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,082,883 (GRCm39) |
T143S |
probably benign |
Het |
| Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
| Sema5a |
A |
T |
15: 32,609,372 (GRCm39) |
Y426F |
probably benign |
Het |
| Trpc7 |
G |
T |
13: 57,035,352 (GRCm39) |
H194N |
probably damaging |
Het |
| Vmn2r106 |
A |
T |
17: 20,499,741 (GRCm39) |
F165I |
probably benign |
Het |
| Zdbf2 |
A |
G |
1: 63,348,232 (GRCm39) |
T2204A |
possibly damaging |
Het |
| Zp2 |
A |
T |
7: 119,737,566 (GRCm39) |
F240I |
possibly damaging |
Het |
|
| Other mutations in Nmur1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00391:Nmur1
|
APN |
1 |
86,314,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAGACATGAGGCTGTAGAGCACC -3'
(R):5'- TCCAGTCTGGGGAAGGAATTGAGC -3'
Sequencing Primer
(F):5'- CTGTAGAGCACCGGGTTG -3'
(R):5'- gagcactgaccactctcc -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation