Incidental Mutation 'R4213:Nmur1'
| ID |
319285 |
| 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 |
041040-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4213 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
86313964-86317083 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 86315506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 87
(T87P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148301
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027440]
[ENSMUST00000212058]
[ENSMUST00000212541]
[ENSMUST00000212614]
|
| AlphaFold |
O55040 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027440
AA Change: T120P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027440
Gene: ENSMUSG00000026237
AA Change: T120P
| 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: T143P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212541
AA Change: T87P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212614
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
97% (38/39) |
| MGI Phenotype |
PHENOTYPE: Homozygous null mice are healthy and viable. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd11 |
A |
C |
8: 123,617,765 (GRCm39) |
V2029G |
probably benign |
Het |
| Arhgap28 |
A |
T |
17: 68,178,988 (GRCm39) |
V291E |
probably benign |
Het |
| Cad |
G |
A |
5: 31,229,688 (GRCm39) |
V1390I |
probably benign |
Het |
| Cadps2 |
A |
T |
6: 23,599,462 (GRCm39) |
D281E |
probably damaging |
Het |
| Celsr1 |
G |
A |
15: 85,916,008 (GRCm39) |
T655I |
probably damaging |
Het |
| Cep350 |
C |
G |
1: 155,811,707 (GRCm39) |
G411A |
probably damaging |
Het |
| Chml |
A |
T |
1: 175,514,261 (GRCm39) |
F210L |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,430,865 (GRCm39) |
M1679K |
unknown |
Het |
| Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
| Depdc1b |
T |
G |
13: 108,525,225 (GRCm39) |
F527V |
probably damaging |
Het |
| Dipk1b |
C |
T |
2: 26,525,960 (GRCm39) |
T298I |
probably benign |
Het |
| Dsg2 |
T |
C |
18: 20,731,571 (GRCm39) |
L731P |
probably benign |
Het |
| Fbxo25 |
A |
G |
8: 13,989,581 (GRCm39) |
T343A |
probably damaging |
Het |
| Gk5 |
T |
C |
9: 96,011,106 (GRCm39) |
L72P |
probably damaging |
Het |
| Gpr137c |
G |
A |
14: 45,483,965 (GRCm39) |
E231K |
probably damaging |
Het |
| Hdc |
C |
T |
2: 126,439,786 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
G |
8: 111,183,139 (GRCm39) |
N1112S |
possibly damaging |
Het |
| Itgae |
A |
G |
11: 73,010,178 (GRCm39) |
H556R |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Kplce |
G |
A |
3: 92,776,434 (GRCm39) |
P83L |
probably benign |
Het |
| Krtap17-1 |
A |
G |
11: 99,884,740 (GRCm39) |
L9P |
unknown |
Het |
| Or5d16 |
T |
C |
2: 87,773,465 (GRCm39) |
Y169C |
probably benign |
Het |
| Pira13 |
C |
A |
7: 3,824,553 (GRCm39) |
A510S |
probably damaging |
Het |
| Ppp2r5e |
A |
G |
12: 75,516,325 (GRCm39) |
I244T |
probably damaging |
Het |
| Robo3 |
C |
T |
9: 37,333,194 (GRCm39) |
G781D |
probably damaging |
Het |
| Siglec1 |
C |
T |
2: 130,916,038 (GRCm39) |
E1275K |
probably damaging |
Het |
| Slc2a12 |
A |
T |
10: 22,577,993 (GRCm39) |
K596N |
probably benign |
Het |
| Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
| Sqor |
G |
T |
2: 122,629,418 (GRCm39) |
G92V |
probably damaging |
Het |
| Tlr4 |
T |
A |
4: 66,758,563 (GRCm39) |
I452N |
probably damaging |
Het |
| Tob1 |
A |
G |
11: 94,105,018 (GRCm39) |
T185A |
probably damaging |
Het |
| Yjefn3 |
G |
T |
8: 70,343,540 (GRCm39) |
H50Q |
probably benign |
Het |
| Zswim1 |
T |
C |
2: 164,667,705 (GRCm39) |
V319A |
probably benign |
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 |
|
R1235:Nmur1
|
UTSW |
1 |
86,314,415 (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'- GCGAACATATAGCTGAGTCGG -3'
(R):5'- GCAACAAGACTATGCGCACG -3'
Sequencing Primer
(F):5'- TTGACTGAGGCCATGCAG -3'
(R):5'- GACTATGCGCACGCCCAC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation