Incidental Mutation 'R9397:Naprt'
| ID |
710905 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Naprt
|
| Ensembl Gene |
ENSMUSG00000022574 |
| Gene Name |
nicotinate phosphoribosyltransferase |
| Synonyms |
9130210N20Rik, Naprt1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R9397 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
75762812-75766330 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 75763859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 354
(V354I)
|
| 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]
[ENSMUST00000154584]
[ENSMUST00000184858]
[ENSMUST00000229571]
|
| 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 null
Transcript: ENSMUST00000023237
AA Change: V354I
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000023237
Gene: ENSMUSG00000022574
AA Change: V354I
| 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 |
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: 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: 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: ENSMUST00000229571
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930555G01Rik |
T |
G |
14: 5,051,639 (GRCm38) |
V66G |
possibly damaging |
Het |
| A630001G21Rik |
G |
T |
1: 85,653,002 (GRCm39) |
Y55* |
probably null |
Het |
| Abca8a |
G |
A |
11: 109,921,173 (GRCm39) |
T1474I |
probably damaging |
Het |
| Acaca |
T |
G |
11: 84,259,551 (GRCm39) |
I1962S |
probably damaging |
Het |
| Acap1 |
A |
T |
11: 69,775,672 (GRCm39) |
S455T |
probably damaging |
Het |
| Acbd7 |
G |
A |
2: 3,337,259 (GRCm39) |
|
probably null |
Het |
| Adamts9 |
A |
G |
6: 92,878,444 (GRCm39) |
L541P |
probably damaging |
Het |
| Ankrd49 |
T |
C |
9: 14,692,711 (GRCm39) |
N151S |
probably benign |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Arhgap27 |
T |
C |
11: 103,231,115 (GRCm39) |
D58G |
probably damaging |
Het |
| Btbd18 |
G |
T |
2: 84,497,810 (GRCm39) |
A483S |
probably damaging |
Het |
| C2 |
A |
G |
17: 35,094,965 (GRCm39) |
S257P |
probably damaging |
Het |
| Catsper3 |
T |
A |
13: 55,946,725 (GRCm39) |
Y141N |
probably damaging |
Het |
| Cfap54 |
G |
A |
10: 92,833,147 (GRCm39) |
L1160F |
probably damaging |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Cyp4f14 |
C |
T |
17: 33,130,516 (GRCm39) |
G141D |
probably damaging |
Het |
| Duox1 |
C |
T |
2: 122,150,783 (GRCm39) |
T286I |
possibly damaging |
Het |
| Epc2 |
G |
A |
2: 49,378,822 (GRCm39) |
G92E |
probably damaging |
Het |
| Fmnl3 |
C |
T |
15: 99,225,938 (GRCm39) |
|
probably null |
Het |
| Glyatl3 |
G |
A |
17: 41,223,565 (GRCm39) |
R59* |
probably null |
Het |
| Gm3633 |
T |
A |
14: 42,460,400 (GRCm39) |
Q181L |
|
Het |
| Guca1b |
C |
T |
17: 47,696,560 (GRCm39) |
T49M |
probably benign |
Het |
| Hdac9 |
T |
A |
12: 34,353,275 (GRCm39) |
H645L |
probably damaging |
Het |
| Hhip |
T |
C |
8: 80,719,112 (GRCm39) |
R472G |
probably benign |
Het |
| Ifi203 |
A |
G |
1: 173,765,547 (GRCm39) |
V9A |
probably damaging |
Het |
| Igkv9-123 |
A |
T |
6: 67,931,443 (GRCm39) |
V41D |
probably damaging |
Het |
| Il5ra |
T |
A |
6: 106,721,258 (GRCm39) |
T14S |
probably benign |
Het |
| Ints2 |
A |
G |
11: 86,135,311 (GRCm39) |
S368P |
probably benign |
Het |
| Kat6b |
T |
A |
14: 21,675,244 (GRCm39) |
S470T |
possibly damaging |
Het |
| Kmt2d |
A |
G |
15: 98,747,994 (GRCm39) |
V3110A |
unknown |
Het |
| Lama2 |
T |
C |
10: 26,981,117 (GRCm39) |
N1846D |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,640,922 (GRCm39) |
E3507D |
|
Het |
| Ly6g6c |
A |
G |
17: 35,288,317 (GRCm39) |
N63S |
probably benign |
Het |
| Nars1 |
A |
G |
18: 64,642,327 (GRCm39) |
S172P |
probably benign |
Het |
| Odr4 |
C |
T |
1: 150,238,616 (GRCm39) |
A434T |
probably damaging |
Het |
| Or6c5b |
A |
G |
10: 129,245,909 (GRCm39) |
R225G |
possibly damaging |
Het |
| Or7e177 |
T |
C |
9: 20,211,748 (GRCm39) |
I85T |
possibly damaging |
Het |
| Pcdhb6 |
A |
G |
18: 37,469,353 (GRCm39) |
D758G |
probably benign |
Het |
| Pkp4 |
G |
A |
2: 59,148,856 (GRCm39) |
W536* |
probably null |
Het |
| Polr3b |
C |
T |
10: 84,467,653 (GRCm39) |
L78F |
possibly damaging |
Het |
| Rasa4 |
T |
A |
5: 136,129,836 (GRCm39) |
V272E |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,040,849 (GRCm39) |
T3836A |
possibly damaging |
Het |
| Tbpl2 |
C |
T |
2: 23,966,070 (GRCm39) |
V308I |
possibly damaging |
Het |
| Tcea1 |
T |
A |
1: 4,962,141 (GRCm39) |
I176K |
probably damaging |
Het |
| Try5 |
A |
T |
6: 41,289,314 (GRCm39) |
F87L |
probably benign |
Het |
| Ttc8 |
G |
T |
12: 98,942,692 (GRCm39) |
G411* |
probably null |
Het |
| Vmn2r115 |
G |
A |
17: 23,564,152 (GRCm39) |
W108* |
probably null |
Het |
| Zdhhc13 |
C |
T |
7: 48,476,628 (GRCm39) |
T581I |
probably benign |
Het |
| Zfp777 |
G |
T |
6: 48,021,190 (GRCm39) |
T144K |
probably benign |
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 |
|
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 |
|
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'- CACTGGTGCCAATGCCAATG -3'
(R):5'- TATTTCAGGGGCAATTGAGAAAGCC -3'
Sequencing Primer
(F):5'- TGGTGCCAATGCCAATGACATTC -3'
(R):5'- CAATTGAGAAAGCCCTGGAAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation