Incidental Mutation 'R6282:Naprt'
| ID | 508018 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
Naprt
|
|---|
| Ensembl Gene |
ENSMUSG00000022574 |
|---|
| Gene Name | nicotinate phosphoribosyltransferase |
|---|
| Synonyms | Naprt1, 9130210N20Rik |
|---|
| MMRRC Submission |
|
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Probably non essential (E-score: 0.080)
|
|---|
| Stock # | R6282 (G1)
|
|---|
| Quality Score | 225.009 |
|---|
| Status |
Validated
|
|---|
| Chromosome | 15 |
|---|
| Chromosomal Location | 75890956-75894481 bp(-) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
A to T
at 75891979 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Methionine to Lysine
at position 364
(M364K)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023237
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023235]
[ENSMUST00000023237]
[ENSMUST00000089680]
[ENSMUST00000089681]
[ENSMUST00000109972]
[ENSMUST00000109975]
[ENSMUST00000116440]
[ENSMUST00000123712]
[ENSMUST00000137426]
[ENSMUST00000141268]
[ENSMUST00000144614]
[ENSMUST00000151066]
[ENSMUST00000229571]
[ENSMUST00000184858]
[ENSMUST00000154584]
|
|---|
| 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 benign
Transcript: ENSMUST00000023237
AA Change: M364K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000023237
Gene: ENSMUSG00000022574
AA Change: M364K
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4MZY|A
|
16 |
522 |
2e-70 |
PDB |
|
|---|
| 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 |
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: 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 |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129800
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134222
|
|---|
| 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: 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: 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: 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: ENSMUST00000229571
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230739
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230259
|
|---|
| 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 |
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 |
|
|---|
| Meta Mutation Damage Score |
0.0898
|
|---|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
|---|
| Validation Efficiency |
98% (45/46) |
|---|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
A |
T |
2: 30,800,769 |
L185Q |
possibly damaging |
Het |
| Abca6 |
A |
T |
11: 110,208,824 |
C966S |
probably damaging |
Het |
| Atp13a4 |
A |
T |
16: 29,434,004 |
I708N |
probably benign |
Het |
| Axin1 |
C |
G |
17: 26,143,037 |
D118E |
probably damaging |
Het |
| Bace2 |
A |
T |
16: 97,415,097 |
I297F |
probably damaging |
Het |
| C87499 |
T |
C |
4: 88,630,054 |
E38G |
probably damaging |
Het |
| Ccdc30 |
T |
A |
4: 119,324,017 |
D649V |
probably damaging |
Het |
| Cd180 |
G |
A |
13: 102,693,757 |
A20T |
possibly damaging |
Het |
| Cdk18 |
T |
C |
1: 132,120,020 |
D112G |
probably damaging |
Het |
| Cuedc1 |
A |
G |
11: 88,183,402 |
N254S |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,503,601 |
H2470R |
probably damaging |
Het |
| Drap1 |
G |
A |
19: 5,424,436 |
|
probably null |
Het |
| Fam196b |
A |
G |
11: 34,402,819 |
D287G |
possibly damaging |
Het |
| Fbxo5 |
T |
A |
10: 5,801,216 |
K257M |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,772,555 |
R100C |
unknown |
Het |
| Gm12790 |
A |
G |
4: 101,967,516 |
V185A |
possibly damaging |
Het |
| Gm7361 |
A |
G |
5: 26,260,413 |
N136S |
probably benign |
Het |
| Il10ra |
C |
A |
9: 45,260,405 |
C255F |
probably damaging |
Het |
| Itgam |
A |
T |
7: 128,084,942 |
T340S |
probably benign |
Het |
| Ktn1 |
A |
T |
14: 47,663,971 |
N62I |
probably damaging |
Het |
| Ldb2 |
A |
G |
5: 44,532,665 |
L204P |
probably damaging |
Het |
| Map2k4 |
T |
C |
11: 65,707,016 |
T90A |
possibly damaging |
Het |
| Mettl3 |
A |
T |
14: 52,297,971 |
D287E |
probably benign |
Het |
| Mier2 |
A |
G |
10: 79,544,742 |
F278S |
probably damaging |
Het |
| Mis18bp1 |
A |
G |
12: 65,149,163 |
M609T |
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,557,512 |
V929D |
probably damaging |
Het |
| Nod2 |
T |
A |
8: 88,670,460 |
C833S |
probably benign |
Het |
| Nrip3 |
C |
T |
7: 109,763,479 |
|
probably null |
Het |
| Ntsr2 |
A |
G |
12: 16,658,425 |
Y320C |
probably damaging |
Het |
| Olfr1178 |
C |
A |
2: 88,391,533 |
C95* |
probably null |
Het |
| Olfr555 |
G |
A |
7: 102,659,647 |
M275I |
probably benign |
Het |
| Olfr761 |
G |
A |
17: 37,952,424 |
S200F |
possibly damaging |
Het |
| Osbpl3 |
A |
T |
6: 50,348,083 |
|
probably null |
Het |
| Pcdhb3 |
C |
T |
18: 37,301,646 |
R222C |
probably damaging |
Het |
| Pik3cd |
G |
T |
4: 149,659,743 |
R184S |
probably benign |
Het |
| Rad50 |
A |
T |
11: 53,669,770 |
|
probably null |
Het |
| Rad51ap2 |
A |
T |
12: 11,457,559 |
H494L |
probably benign |
Het |
| Rbm25 |
T |
C |
12: 83,676,089 |
M762T |
probably damaging |
Het |
| Sars |
G |
T |
3: 108,428,274 |
S338* |
probably null |
Het |
| Usp35 |
T |
C |
7: 97,325,948 |
E6G |
probably damaging |
Het |
| Vash2 |
T |
C |
1: 190,960,225 |
Y251C |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,559,051 |
N549S |
possibly damaging |
Het |
| Wdr20 |
T |
A |
12: 110,797,009 |
|
probably benign |
Het |
| Wfdc1 |
G |
A |
8: 119,679,407 |
C87Y |
probably damaging |
Het |
| Zfp985 |
T |
A |
4: 147,583,348 |
H224Q |
probably benign |
Het |
|
|---|
| Other mutations in Naprt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Naprt
|
APN |
15 |
75893315 |
missense |
probably damaging |
1.00 |
|
IGL00846:Naprt
|
APN |
15 |
75891788 |
missense |
probably benign |
0.13 |
|
IGL01510:Naprt
|
APN |
15 |
75890988 |
utr 3 prime |
probably benign |
|
|
IGL01834:Naprt
|
APN |
15 |
75893799 |
missense |
probably damaging |
1.00 |
|
IGL02002:Naprt
|
APN |
15 |
75891372 |
missense |
probably damaging |
0.98 |
|
IGL02948:Naprt
|
APN |
15 |
75892357 |
missense |
probably damaging |
0.99 |
|
R0440:Naprt
|
UTSW |
15 |
75891069 |
splice site |
probably benign |
|
|
R0523:Naprt
|
UTSW |
15 |
75892465 |
missense |
probably damaging |
1.00 |
|
R0681:Naprt
|
UTSW |
15 |
75893632 |
missense |
probably damaging |
1.00 |
|
R2114:Naprt
|
UTSW |
15 |
75891788 |
missense |
probably damaging |
1.00 |
|
R4424:Naprt
|
UTSW |
15 |
75892756 |
splice site |
probably null |
|
|
R5495:Naprt
|
UTSW |
15 |
75893847 |
splice site |
probably null |
|
|
R5886:Naprt
|
UTSW |
15 |
75891475 |
splice site |
probably null |
|
|
R6166:Naprt
|
UTSW |
15 |
75891477 |
missense |
possibly damaging |
0.94 |
|
R7167:Naprt
|
UTSW |
15 |
75892612 |
missense |
probably damaging |
1.00 |
|
R7472:Naprt
|
UTSW |
15 |
75891758 |
splice site |
probably null |
|
|
X0018:Naprt
|
UTSW |
15 |
75892357 |
missense |
probably damaging |
0.99 |
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- CCATAGAAGGCTGTTTGGGAC -3'
(R):5'- GGCAATTGAGAAAGCCCTGG -3'
Sequencing Primer
(F):5'- GAAGTGACAGTGACACTGA -3'
(R):5'- ATAGGACCACTAGGGGGCC -3'
|
|---|
| Posted On | 2018-03-15 |
|---|
