Incidental Mutation 'IGL00332:Naprt'
ID |
5831 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Naprt
|
Ensembl Gene |
ENSMUSG00000022574 |
Gene Name |
nicotinate phosphoribosyltransferase |
Synonyms |
9130210N20Rik, Naprt1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
IGL00332
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
75762812-75766330 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 75765164 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 187
(Y187H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155290
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023235]
[ENSMUST00000023237]
[ENSMUST00000089680]
[ENSMUST00000089681]
[ENSMUST00000109972]
[ENSMUST00000109975]
[ENSMUST00000229571]
[ENSMUST00000154584]
[ENSMUST00000137426]
[ENSMUST00000116440]
[ENSMUST00000151066]
[ENSMUST00000141268]
[ENSMUST00000123712]
[ENSMUST00000184858]
[ENSMUST00000144614]
|
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 |
possibly damaging
Transcript: ENSMUST00000023237
AA Change: Y187H
PolyPhen 2
Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000023237 Gene: ENSMUSG00000022574 AA Change: Y187H
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: Y187H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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: 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 |
noncoding transcript
Transcript: ENSMUST00000230259
|
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: 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: 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 |
|
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: ENSMUST00000230739
|
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp6 |
T |
C |
3: 97,083,737 (GRCm39) |
Y404H |
possibly damaging |
Het |
Adgrv1 |
T |
A |
13: 81,620,996 (GRCm39) |
|
probably benign |
Het |
Akap13 |
A |
G |
7: 75,378,667 (GRCm39) |
K2107E |
probably damaging |
Het |
Ankrd42 |
A |
G |
7: 92,233,662 (GRCm39) |
|
probably benign |
Het |
Apba3 |
C |
T |
10: 81,108,901 (GRCm39) |
P555S |
probably damaging |
Het |
Aplnr |
A |
G |
2: 84,967,985 (GRCm39) |
S337G |
probably benign |
Het |
Arhgef40 |
A |
G |
14: 52,226,417 (GRCm39) |
N154D |
probably damaging |
Het |
Asb14 |
A |
G |
14: 26,633,998 (GRCm39) |
K401R |
probably benign |
Het |
Aspn |
C |
A |
13: 49,719,968 (GRCm39) |
T328K |
probably benign |
Het |
Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
Brca2 |
T |
A |
5: 150,463,363 (GRCm39) |
H1042Q |
probably benign |
Het |
C3 |
A |
G |
17: 57,533,004 (GRCm39) |
L167P |
probably benign |
Het |
Ccdc33 |
A |
G |
9: 57,977,257 (GRCm39) |
|
probably benign |
Het |
Cdk10 |
T |
A |
8: 123,957,063 (GRCm39) |
M222K |
possibly damaging |
Het |
Cfap45 |
C |
T |
1: 172,362,912 (GRCm39) |
|
probably benign |
Het |
Chil3 |
T |
A |
3: 106,056,017 (GRCm39) |
N352I |
probably damaging |
Het |
Chn2 |
G |
T |
6: 54,272,907 (GRCm39) |
|
probably null |
Het |
Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
Cpt1b |
T |
C |
15: 89,305,066 (GRCm39) |
E394G |
probably benign |
Het |
Fcgr2b |
T |
A |
1: 170,788,799 (GRCm39) |
N273I |
possibly damaging |
Het |
Fpr-rs7 |
G |
A |
17: 20,333,480 (GRCm39) |
Q337* |
probably null |
Het |
Fras1 |
T |
A |
5: 96,887,217 (GRCm39) |
N2666K |
possibly damaging |
Het |
Gfra3 |
C |
T |
18: 34,824,601 (GRCm39) |
|
probably null |
Het |
Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
Gpr75 |
C |
T |
11: 30,841,590 (GRCm39) |
T165I |
probably damaging |
Het |
Gzmd |
A |
T |
14: 56,367,737 (GRCm39) |
C179S |
probably damaging |
Het |
Hand1 |
T |
G |
11: 57,722,575 (GRCm39) |
H13P |
probably damaging |
Het |
Irak3 |
C |
T |
10: 120,013,972 (GRCm39) |
|
probably null |
Het |
Isl2 |
T |
A |
9: 55,452,253 (GRCm39) |
L275Q |
possibly damaging |
Het |
Itgb2 |
T |
C |
10: 77,393,240 (GRCm39) |
V367A |
probably damaging |
Het |
Katna1 |
T |
C |
10: 7,638,758 (GRCm39) |
|
probably benign |
Het |
Myh6 |
A |
G |
14: 55,184,450 (GRCm39) |
M1627T |
probably benign |
Het |
Nedd4 |
T |
A |
9: 72,642,371 (GRCm39) |
V550E |
probably damaging |
Het |
Nt5c2 |
A |
G |
19: 46,884,954 (GRCm39) |
V252A |
possibly damaging |
Het |
Or8k39 |
T |
C |
2: 86,563,579 (GRCm39) |
I126V |
possibly damaging |
Het |
Or9i16 |
C |
T |
19: 13,864,945 (GRCm39) |
V210I |
probably benign |
Het |
P2ry2 |
A |
G |
7: 100,647,393 (GRCm39) |
V304A |
probably damaging |
Het |
Pde4dip |
T |
C |
3: 97,674,593 (GRCm39) |
N108D |
probably benign |
Het |
Pdgfrl |
A |
G |
8: 41,438,660 (GRCm39) |
T199A |
probably damaging |
Het |
Plaa |
A |
G |
4: 94,470,844 (GRCm39) |
Y431H |
probably benign |
Het |
Pls1 |
A |
T |
9: 95,664,472 (GRCm39) |
I177N |
possibly damaging |
Het |
Plxna2 |
T |
C |
1: 194,472,138 (GRCm39) |
F1035L |
probably damaging |
Het |
Ppp6r3 |
A |
T |
19: 3,564,729 (GRCm39) |
|
probably null |
Het |
Prpf4b |
T |
C |
13: 35,067,890 (GRCm39) |
S240P |
probably benign |
Het |
Reg2 |
T |
A |
6: 78,383,204 (GRCm39) |
Y50* |
probably null |
Het |
Rev3l |
C |
T |
10: 39,682,965 (GRCm39) |
T361I |
probably benign |
Het |
Rps4l |
A |
G |
6: 148,256,383 (GRCm39) |
|
probably benign |
Het |
Scn11a |
A |
T |
9: 119,598,982 (GRCm39) |
F1183I |
probably damaging |
Het |
Sh2b2 |
T |
C |
5: 136,253,273 (GRCm39) |
E327G |
probably damaging |
Het |
Shank2 |
A |
G |
7: 143,965,584 (GRCm39) |
K1057R |
probably damaging |
Het |
Sim2 |
T |
A |
16: 93,915,803 (GRCm39) |
Y255* |
probably null |
Het |
Snx9 |
A |
G |
17: 5,949,636 (GRCm39) |
N112S |
probably benign |
Het |
Sphkap |
T |
A |
1: 83,258,237 (GRCm39) |
I169F |
probably damaging |
Het |
Spink5 |
A |
G |
18: 44,100,111 (GRCm39) |
T43A |
probably benign |
Het |
Stac2 |
C |
T |
11: 97,932,005 (GRCm39) |
S265N |
probably benign |
Het |
Tbx20 |
A |
G |
9: 24,670,044 (GRCm39) |
V91A |
probably damaging |
Het |
Tgfbr2 |
C |
T |
9: 115,939,257 (GRCm39) |
R190H |
probably damaging |
Het |
Ubr2 |
A |
G |
17: 47,301,916 (GRCm39) |
|
probably null |
Het |
Wdfy3 |
C |
T |
5: 102,063,204 (GRCm39) |
|
probably null |
Het |
Wdr82 |
T |
C |
9: 106,061,449 (GRCm39) |
V166A |
probably benign |
Het |
Zfhx4 |
C |
T |
3: 5,307,401 (GRCm39) |
A209V |
probably damaging |
Het |
Zfp518b |
T |
A |
5: 38,831,109 (GRCm39) |
T299S |
possibly damaging |
Het |
|
Other mutations in Naprt |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R0681:Naprt
|
UTSW |
15 |
75,765,481 (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 |
|
Posted On |
2012-04-20 |