Incidental Mutation 'R0681:Naprt'
| ID |
60978 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Naprt
|
| Ensembl Gene |
ENSMUSG00000022574 |
| Gene Name |
nicotinate phosphoribosyltransferase |
| Synonyms |
9130210N20Rik, Naprt1 |
| MMRRC Submission |
038866-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R0681 (G1)
|
| Quality Score |
215 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
75762812-75766330 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 75765481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 120
(P120S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023235]
[ENSMUST00000023237]
[ENSMUST00000089680]
[ENSMUST00000089681]
[ENSMUST00000109972]
[ENSMUST00000109975]
[ENSMUST00000229571]
[ENSMUST00000137426]
[ENSMUST00000144614]
[ENSMUST00000184858]
[ENSMUST00000151066]
[ENSMUST00000154584]
[ENSMUST00000116440]
[ENSMUST00000141268]
[ENSMUST00000123712]
|
| AlphaFold |
Q8CC86 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023235
|
| SMART Domains |
Protein: ENSMUSP00000023235
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
62 |
75 |
N/A |
INTRINSIC |
|
coiled coil region
|
82 |
120 |
N/A |
INTRINSIC |
|
EF-1_beta_acid
|
159 |
186 |
2.53e-4 |
SMART |
|
Pfam:EF1_GNE
|
195 |
245 |
3.3e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023237
AA Change: P120S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023237
Gene: ENSMUSG00000022574
AA Change: P120S
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4MZY|A
|
16 |
522 |
2e-70 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000055220
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089680
|
| SMART Domains |
Protein: ENSMUSP00000087109
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
70 |
N/A |
INTRINSIC |
|
coiled coil region
|
77 |
115 |
N/A |
INTRINSIC |
|
EF-1_beta_acid
|
154 |
181 |
2.53e-4 |
SMART |
|
EF1_GNE
|
190 |
276 |
4.87e-41 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089681
|
| SMART Domains |
Protein: ENSMUSP00000087110
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
76 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
108 |
136 |
2.92e-5 |
PROSPERO |
|
low complexity region
|
137 |
156 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
231 |
259 |
2.92e-5 |
PROSPERO |
|
internal_repeat_1
|
244 |
263 |
2.02e-6 |
PROSPERO |
|
internal_repeat_1
|
389 |
408 |
2.02e-6 |
PROSPERO |
|
low complexity region
|
441 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
461 |
499 |
N/A |
INTRINSIC |
|
EF-1_beta_acid
|
538 |
565 |
2.53e-4 |
SMART |
|
EF1_GNE
|
574 |
660 |
4.87e-41 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109972
|
| SMART Domains |
Protein: ENSMUSP00000105599
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
51 |
N/A |
INTRINSIC |
|
coiled coil region
|
58 |
96 |
N/A |
INTRINSIC |
|
EF-1_beta_acid
|
135 |
162 |
2.53e-4 |
SMART |
|
EF1_GNE
|
171 |
257 |
4.87e-41 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109975
|
| SMART Domains |
Protein: ENSMUSP00000105602
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
76 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
108 |
136 |
2.92e-5 |
PROSPERO |
|
low complexity region
|
137 |
156 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
231 |
259 |
2.92e-5 |
PROSPERO |
|
internal_repeat_1
|
244 |
263 |
2.02e-6 |
PROSPERO |
|
internal_repeat_1
|
389 |
408 |
2.02e-6 |
PROSPERO |
|
low complexity region
|
441 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
461 |
499 |
N/A |
INTRINSIC |
|
EF-1_beta_acid
|
538 |
565 |
2.53e-4 |
SMART |
|
EF1_GNE
|
574 |
660 |
4.87e-41 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129800
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134222
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229571
AA Change: P120S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230739
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137426
|
| SMART Domains |
Protein: ENSMUSP00000114753
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
72 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
160 |
179 |
9.48e-6 |
PROSPERO |
|
internal_repeat_1
|
305 |
324 |
9.48e-6 |
PROSPERO |
|
low complexity region
|
330 |
346 |
N/A |
INTRINSIC |
|
coiled coil region
|
353 |
391 |
N/A |
INTRINSIC |
|
EF-1_beta_acid
|
430 |
457 |
2.53e-4 |
SMART |
|
EF1_GNE
|
466 |
552 |
4.87e-41 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144614
|
| SMART Domains |
Protein: ENSMUSP00000123005
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
62 |
75 |
N/A |
INTRINSIC |
|
coiled coil region
|
82 |
120 |
N/A |
INTRINSIC |
|
EF-1_beta_acid
|
159 |
186 |
2.53e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184858
|
| SMART Domains |
Protein: ENSMUSP00000139029
Gene: ENSMUSG00000098678
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
140 |
N/A |
INTRINSIC |
|
low complexity region
|
169 |
183 |
N/A |
INTRINSIC |
|
SCOP:d1qbkb_
|
366 |
704 |
1e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230259
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151066
|
| SMART Domains |
Protein: ENSMUSP00000118889
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
EF-1_beta_acid
|
68 |
95 |
2.53e-4 |
SMART |
|
EF1_GNE
|
104 |
190 |
4.87e-41 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154584
|
| SMART Domains |
Protein: ENSMUSP00000116360
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
62 |
75 |
N/A |
INTRINSIC |
|
coiled coil region
|
82 |
120 |
N/A |
INTRINSIC |
|
EF-1_beta_acid
|
159 |
186 |
1.2e-8 |
SMART |
|
EF1_GNE
|
195 |
280 |
4.9e-41 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116440
|
| SMART Domains |
Protein: ENSMUSP00000112141
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
51 |
N/A |
INTRINSIC |
|
coiled coil region
|
58 |
96 |
N/A |
INTRINSIC |
|
EF-1_beta_acid
|
135 |
162 |
2.53e-4 |
SMART |
|
EF1_GNE
|
171 |
257 |
4.87e-41 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141268
|
| SMART Domains |
Protein: ENSMUSP00000115553
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
94 |
N/A |
INTRINSIC |
|
coiled coil region
|
101 |
139 |
N/A |
INTRINSIC |
|
EF-1_beta_acid
|
178 |
205 |
2.53e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123712
|
| SMART Domains |
Protein: ENSMUSP00000122155
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
51 |
N/A |
INTRINSIC |
|
coiled coil region
|
58 |
96 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9260 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
| Validation Efficiency |
100% (68/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nicotinic acid (NA; niacin) is converted by nicotinic acid phosphoribosyltransferase (NAPRT; EC 2.4.2.11) to NA mononucleotide (NaMN), which is then converted to NA adenine dinucleotide (NaAD), and finally to nicotinamide adenine dinucleotide (NAD), which serves as a coenzyme in cellular redox reactions and is an essential component of a variety of processes in cellular metabolism including response to stress (Hara et al., 2007).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
G |
T |
8: 84,661,279 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
C |
A |
13: 81,676,649 (GRCm39) |
D1341Y |
probably damaging |
Het |
| Ahdc1 |
T |
C |
4: 132,792,827 (GRCm39) |
F1356S |
possibly damaging |
Het |
| Cdk13 |
A |
G |
13: 17,895,882 (GRCm39) |
|
probably benign |
Het |
| Cfhr1 |
A |
T |
1: 139,485,249 (GRCm39) |
S66T |
probably damaging |
Het |
| Cldn6 |
C |
A |
17: 23,900,167 (GRCm39) |
Q44K |
probably damaging |
Het |
| Cntnap5c |
T |
C |
17: 58,612,550 (GRCm39) |
V863A |
possibly damaging |
Het |
| Col6a4 |
T |
A |
9: 105,944,343 (GRCm39) |
K1044* |
probably null |
Het |
| Cyb561d1 |
A |
G |
3: 108,106,583 (GRCm39) |
V212A |
probably benign |
Het |
| Cyp1b1 |
A |
G |
17: 80,021,275 (GRCm39) |
S156P |
probably damaging |
Het |
| Dock7 |
G |
A |
4: 98,904,941 (GRCm39) |
H645Y |
probably damaging |
Het |
| Dpp3 |
T |
C |
19: 4,964,682 (GRCm39) |
N542D |
probably damaging |
Het |
| Fastkd3 |
C |
T |
13: 68,740,047 (GRCm39) |
|
probably benign |
Het |
| Galnt10 |
T |
A |
11: 57,660,366 (GRCm39) |
V268D |
probably damaging |
Het |
| Grb14 |
G |
T |
2: 64,747,631 (GRCm39) |
A10E |
probably damaging |
Het |
| Grin2c |
A |
G |
11: 115,140,479 (GRCm39) |
V1213A |
probably benign |
Het |
| Grip1 |
C |
T |
10: 119,846,135 (GRCm39) |
T570I |
probably damaging |
Het |
| Hif1an |
T |
C |
19: 44,551,762 (GRCm39) |
Y71H |
probably benign |
Het |
| Hsd17b11 |
T |
A |
5: 104,151,072 (GRCm39) |
I221L |
probably benign |
Het |
| Htra1 |
A |
T |
7: 130,581,027 (GRCm39) |
|
probably benign |
Het |
| Igfn1 |
T |
C |
1: 135,891,591 (GRCm39) |
E2308G |
possibly damaging |
Het |
| Mapk9 |
T |
A |
11: 49,760,072 (GRCm39) |
S129T |
probably damaging |
Het |
| Med22 |
T |
C |
2: 26,800,391 (GRCm39) |
T13A |
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mtus1 |
A |
T |
8: 41,446,554 (GRCm39) |
L489Q |
probably damaging |
Het |
| Nwd1 |
C |
T |
8: 73,388,965 (GRCm39) |
P172L |
probably damaging |
Het |
| Ogfod2 |
A |
G |
5: 124,250,907 (GRCm39) |
E62G |
probably null |
Het |
| Or13a1 |
A |
T |
6: 116,471,361 (GRCm39) |
S264C |
probably damaging |
Het |
| Or5b12b |
A |
G |
19: 12,861,910 (GRCm39) |
T222A |
probably damaging |
Het |
| Or5b12b |
T |
C |
19: 12,861,443 (GRCm39) |
L66P |
probably damaging |
Het |
| Palm |
A |
C |
10: 79,655,327 (GRCm39) |
T362P |
probably benign |
Het |
| Pcare |
T |
G |
17: 72,056,509 (GRCm39) |
H1056P |
probably benign |
Het |
| Pcdh8 |
T |
C |
14: 80,007,400 (GRCm39) |
T388A |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,725,332 (GRCm39) |
I1397V |
unknown |
Het |
| Per1 |
A |
G |
11: 68,992,027 (GRCm39) |
E127G |
probably damaging |
Het |
| Plekha1 |
T |
C |
7: 130,502,353 (GRCm39) |
V30A |
possibly damaging |
Het |
| Pramel24 |
A |
T |
4: 143,454,622 (GRCm39) |
T307S |
probably benign |
Het |
| Rab26 |
A |
G |
17: 24,746,940 (GRCm39) |
|
probably benign |
Het |
| Rasal2 |
T |
C |
1: 156,984,750 (GRCm39) |
D999G |
possibly damaging |
Het |
| Rfx5 |
C |
T |
3: 94,863,666 (GRCm39) |
T105I |
probably damaging |
Het |
| Rrp1b |
T |
C |
17: 32,279,369 (GRCm39) |
S677P |
probably damaging |
Het |
| Scaf4 |
G |
A |
16: 90,046,582 (GRCm39) |
P485S |
unknown |
Het |
| Scn5a |
A |
T |
9: 119,368,706 (GRCm39) |
M273K |
probably damaging |
Het |
| Sec22a |
C |
T |
16: 35,181,926 (GRCm39) |
|
probably null |
Het |
| Slc10a6 |
C |
A |
5: 103,760,315 (GRCm39) |
V227F |
possibly damaging |
Het |
| Slc39a3 |
C |
G |
10: 80,869,565 (GRCm39) |
E31Q |
probably benign |
Het |
| Spsb1 |
C |
T |
4: 149,991,374 (GRCm39) |
V65I |
probably benign |
Het |
| Tdrd7 |
T |
A |
4: 46,016,879 (GRCm39) |
M673K |
probably benign |
Het |
| Trim8 |
C |
A |
19: 46,503,532 (GRCm39) |
S361R |
possibly damaging |
Het |
| Ucp1 |
T |
A |
8: 84,021,936 (GRCm39) |
M256K |
possibly damaging |
Het |
| Vmn1r46 |
A |
T |
6: 89,953,946 (GRCm39) |
D265V |
probably damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,993,787 (GRCm39) |
I532M |
probably damaging |
Het |
|
| Other mutations in Naprt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Naprt
|
APN |
15 |
75,765,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00846:Naprt
|
APN |
15 |
75,763,637 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01510:Naprt
|
APN |
15 |
75,762,837 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01834:Naprt
|
APN |
15 |
75,765,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02002:Naprt
|
APN |
15 |
75,763,221 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02948:Naprt
|
APN |
15 |
75,764,206 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0440:Naprt
|
UTSW |
15 |
75,762,918 (GRCm39) |
splice site |
probably benign |
|
|
R0523:Naprt
|
UTSW |
15 |
75,764,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2114:Naprt
|
UTSW |
15 |
75,763,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4424:Naprt
|
UTSW |
15 |
75,764,605 (GRCm39) |
splice site |
probably null |
|
|
R5495:Naprt
|
UTSW |
15 |
75,765,696 (GRCm39) |
splice site |
probably null |
|
|
R5886:Naprt
|
UTSW |
15 |
75,763,324 (GRCm39) |
splice site |
probably null |
|
|
R6166:Naprt
|
UTSW |
15 |
75,763,326 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6282:Naprt
|
UTSW |
15 |
75,763,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7167:Naprt
|
UTSW |
15 |
75,764,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7472:Naprt
|
UTSW |
15 |
75,763,607 (GRCm39) |
splice site |
probably null |
|
|
R8886:Naprt
|
UTSW |
15 |
75,765,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9397:Naprt
|
UTSW |
15 |
75,763,859 (GRCm39) |
missense |
probably null |
0.93 |
|
R9668:Naprt
|
UTSW |
15 |
75,765,281 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
X0018:Naprt
|
UTSW |
15 |
75,764,206 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTATCCGGCCCTGCAATCAAGC -3'
(R):5'- TCACGAACGAATCTCCTGTACCCTC -3'
Sequencing Primer
(F):5'- TGCAATCAAGCGTAGCCG -3'
(R):5'- CTGACCTCTGAGGGGACTTTTAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation