Incidental Mutation 'R5046:Nampt'
| ID |
394388 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nampt
|
| Ensembl Gene |
ENSMUSG00000020572 |
| Gene Name |
nicotinamide phosphoribosyltransferase |
| Synonyms |
1110035O14Rik, Visfatin, Pbef1 |
| MMRRC Submission |
042636-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5046 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
32870334-32903368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32883037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 74
(V74A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020886
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020886]
[ENSMUST00000220200]
|
| AlphaFold |
Q99KQ4 |
| PDB Structure |
Crystal Structure of Murine NMPRTase [X-RAY DIFFRACTION]
Crystal Structure of Mouse Nicotinamide Phosphoribosyltransferase/Visfatin/Pre-B Cell Colony Enhancing Factor 1 [X-RAY DIFFRACTION]
Crystal Structure of Mouse Nicotinamide Phosphoribosyltransferase/Visfatin/Pre-B Cell Colony Enhancing Factor in Complex with Nicotinamide Mononuleotide [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020886
AA Change: V74A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020886
Gene: ENSMUSG00000020572
AA Change: V74A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAPRTase
|
188 |
466 |
1.6e-73 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218491
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220200
|
| Meta Mutation Damage Score |
0.0944 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
100% (52/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that catalyzes the condensation of nicotinamide with 5-phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, one step in the biosynthesis of nicotinamide adenine dinucleotide. The protein belongs to the nicotinic acid phosphoribosyltransferase (NAPRTase) family and is thought to be involved in many important biological processes, including metabolism, stress response and aging. This gene has a pseudogene on chromosome 10. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality prior to E10.5. Mice heterozygous for a null allele exhibit increased fasted glucose in male mice and impaired glucose tolerance and decresed glucose-stimulated insulin secretion in female mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
C |
A |
7: 119,302,597 (GRCm39) |
H241N |
probably damaging |
Het |
| Arhgap32 |
G |
A |
9: 32,168,095 (GRCm39) |
A693T |
probably damaging |
Het |
| B4galnt3 |
G |
T |
6: 120,191,759 (GRCm39) |
A658D |
probably damaging |
Het |
| Car12 |
G |
A |
9: 66,653,895 (GRCm39) |
E84K |
probably benign |
Het |
| Crocc2 |
T |
A |
1: 93,133,624 (GRCm39) |
S969T |
probably damaging |
Het |
| Crym |
A |
G |
7: 119,794,667 (GRCm39) |
V184A |
possibly damaging |
Het |
| Cryzl2 |
T |
C |
1: 157,292,583 (GRCm39) |
C122R |
probably damaging |
Het |
| Defb30 |
T |
C |
14: 63,273,463 (GRCm39) |
E49G |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,550,803 (GRCm39) |
L3161P |
probably damaging |
Het |
| Dnajc5g |
A |
G |
5: 31,267,036 (GRCm39) |
N104S |
probably benign |
Het |
| Fcgr1 |
T |
G |
3: 96,194,302 (GRCm39) |
K195T |
probably damaging |
Het |
| Gal |
C |
T |
19: 3,461,167 (GRCm39) |
R89H |
probably damaging |
Het |
| Gcfc2 |
C |
T |
6: 81,925,316 (GRCm39) |
A577V |
probably benign |
Het |
| Gm5116 |
A |
C |
7: 32,195,379 (GRCm39) |
|
noncoding transcript |
Het |
| Golga3 |
A |
T |
5: 110,340,806 (GRCm39) |
Q540L |
probably damaging |
Het |
| Hectd1 |
T |
C |
12: 51,797,171 (GRCm39) |
E2184G |
probably damaging |
Het |
| Hspa12a |
T |
C |
19: 58,787,977 (GRCm39) |
D615G |
probably damaging |
Het |
| Igkv14-130 |
A |
T |
6: 67,768,465 (GRCm39) |
Y107F |
probably damaging |
Het |
| Ldlr |
T |
A |
9: 21,657,203 (GRCm39) |
|
probably null |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lrrc37a |
A |
T |
11: 103,389,066 (GRCm39) |
S2120T |
unknown |
Het |
| Mtfmt |
G |
T |
9: 65,346,897 (GRCm39) |
V164F |
probably damaging |
Het |
| Ndufc2 |
G |
T |
7: 97,056,871 (GRCm39) |
R120L |
probably damaging |
Het |
| Neo1 |
A |
T |
9: 58,801,194 (GRCm39) |
V1156D |
possibly damaging |
Het |
| Nlrp1b |
G |
A |
11: 71,050,898 (GRCm39) |
P1065S |
possibly damaging |
Het |
| Nop9 |
A |
G |
14: 55,983,397 (GRCm39) |
H56R |
possibly damaging |
Het |
| Or4k41 |
A |
T |
2: 111,279,934 (GRCm39) |
T150S |
probably benign |
Het |
| Or6c75 |
A |
T |
10: 129,337,178 (GRCm39) |
M142L |
possibly damaging |
Het |
| Pign |
A |
T |
1: 105,449,798 (GRCm39) |
N909K |
possibly damaging |
Het |
| Prex1 |
A |
G |
2: 166,414,883 (GRCm39) |
V304A |
probably benign |
Het |
| Racgap1 |
G |
A |
15: 99,526,643 (GRCm39) |
R307W |
probably damaging |
Het |
| Rap1gds1 |
C |
A |
3: 138,661,181 (GRCm39) |
E399* |
probably null |
Het |
| Rwdd4a |
G |
A |
8: 47,995,837 (GRCm39) |
|
probably null |
Het |
| Sanbr |
A |
C |
11: 23,570,354 (GRCm39) |
M182R |
probably benign |
Het |
| Scp2 |
T |
C |
4: 107,928,488 (GRCm39) |
T401A |
probably benign |
Het |
| Sdha |
A |
G |
13: 74,475,452 (GRCm39) |
F526S |
probably damaging |
Het |
| Shroom1 |
T |
A |
11: 53,354,872 (GRCm39) |
L264Q |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,907,590 (GRCm39) |
T1466A |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,801,852 (GRCm39) |
C71Y |
probably damaging |
Het |
| Ugt2b34 |
G |
A |
5: 87,052,246 (GRCm39) |
S250L |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,650,638 (GRCm39) |
D117G |
probably benign |
Het |
| Wdr73 |
A |
T |
7: 80,542,173 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Nampt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02437:Nampt
|
APN |
12 |
32,880,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02512:Nampt
|
APN |
12 |
32,880,268 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL03095:Nampt
|
APN |
12 |
32,892,685 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Nacht
|
UTSW |
12 |
32,883,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0020:Nampt
|
UTSW |
12 |
32,891,012 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0417:Nampt
|
UTSW |
12 |
32,883,100 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1087:Nampt
|
UTSW |
12 |
32,883,042 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1781:Nampt
|
UTSW |
12 |
32,883,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2137:Nampt
|
UTSW |
12 |
32,880,309 (GRCm39) |
missense |
probably benign |
|
|
R2138:Nampt
|
UTSW |
12 |
32,888,421 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3699:Nampt
|
UTSW |
12 |
32,898,758 (GRCm39) |
splice site |
probably benign |
|
|
R3970:Nampt
|
UTSW |
12 |
32,883,095 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4434:Nampt
|
UTSW |
12 |
32,888,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4785:Nampt
|
UTSW |
12 |
32,898,713 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5055:Nampt
|
UTSW |
12 |
32,883,120 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5427:Nampt
|
UTSW |
12 |
32,884,914 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6063:Nampt
|
UTSW |
12 |
32,898,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6136:Nampt
|
UTSW |
12 |
32,880,301 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6995:Nampt
|
UTSW |
12 |
32,898,742 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7569:Nampt
|
UTSW |
12 |
32,900,433 (GRCm39) |
missense |
probably benign |
|
|
R8801:Nampt
|
UTSW |
12 |
32,888,373 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8802:Nampt
|
UTSW |
12 |
32,900,435 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9056:Nampt
|
UTSW |
12 |
32,888,458 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9071:Nampt
|
UTSW |
12 |
32,892,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9729:Nampt
|
UTSW |
12 |
32,900,528 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAAACTCCCAGAAGTACAGG -3'
(R):5'- GTGATTCATACTACAGGAGAAAACG -3'
Sequencing Primer
(F):5'- CAGAAGTACAGGCTCCTTTTCTGAAC -3'
(R):5'- TGAGATCATCAACAAAAAGCGTTAG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation