Incidental Mutation 'R9668:Naprt'
ID |
727952 |
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: 0.079)
|
Stock # |
R9668 (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 A
at 75765281 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 148
(V148L)
|
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 |
possibly damaging
Transcript: ENSMUST00000023237
AA Change: V148L
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000023237 Gene: ENSMUSG00000022574 AA Change: V148L
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 |
possibly damaging
Transcript: ENSMUST00000229571
AA Change: V148L
PolyPhen 2
Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox1 |
G |
T |
11: 116,089,137 (GRCm39) |
Y60* |
probably null |
Het |
Acp7 |
T |
A |
7: 28,314,562 (GRCm39) |
|
probably null |
Het |
Adamts17 |
G |
A |
7: 66,797,438 (GRCm39) |
V1052I |
possibly damaging |
Het |
Ankrd13b |
T |
A |
11: 77,368,594 (GRCm39) |
E42V |
possibly damaging |
Het |
Ano1 |
C |
A |
7: 144,164,579 (GRCm39) |
|
probably null |
Het |
Atp5pb |
C |
T |
3: 105,863,356 (GRCm39) |
V27I |
probably benign |
Het |
C2cd2 |
A |
G |
16: 97,671,418 (GRCm39) |
S494P |
probably damaging |
Het |
Cd320 |
G |
A |
17: 34,065,113 (GRCm39) |
C82Y |
probably damaging |
Het |
Cdc16 |
T |
A |
8: 13,817,552 (GRCm39) |
S288T |
possibly damaging |
Het |
Chrne |
A |
G |
11: 70,507,779 (GRCm39) |
|
probably null |
Het |
Col12a1 |
G |
A |
9: 79,546,960 (GRCm39) |
Q2291* |
probably null |
Het |
Cps1 |
A |
G |
1: 67,213,649 (GRCm39) |
S794G |
probably benign |
Het |
Csmd1 |
A |
T |
8: 16,261,772 (GRCm39) |
D908E |
probably benign |
Het |
Dpf1 |
C |
T |
7: 29,009,084 (GRCm39) |
Q70* |
probably null |
Het |
Fam227a |
A |
T |
15: 79,526,444 (GRCm39) |
N129K |
probably benign |
Het |
Fcho2 |
T |
A |
13: 98,913,965 (GRCm39) |
I211F |
probably benign |
Het |
Fezf1 |
T |
C |
6: 23,247,574 (GRCm39) |
D167G |
probably benign |
Het |
Flt3 |
G |
A |
5: 147,293,694 (GRCm39) |
P461S |
probably benign |
Het |
Fry |
G |
T |
5: 150,282,318 (GRCm39) |
A314S |
probably damaging |
Het |
Gm6309 |
A |
G |
5: 146,105,026 (GRCm39) |
S296P |
probably benign |
Het |
Gmppb |
T |
G |
9: 107,928,362 (GRCm39) |
V291G |
probably damaging |
Het |
Hmcn1 |
G |
T |
1: 150,619,492 (GRCm39) |
S1207R |
probably benign |
Het |
Iars1 |
C |
T |
13: 49,840,885 (GRCm39) |
P6L |
probably damaging |
Het |
Kdm5d |
T |
A |
Y: 943,075 (GRCm39) |
S1519R |
possibly damaging |
Het |
Kpna2 |
G |
A |
11: 106,881,541 (GRCm39) |
T363I |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 41,075,982 (GRCm39) |
H1886Q |
|
Het |
Meak7 |
T |
C |
8: 120,488,514 (GRCm39) |
E436G |
probably damaging |
Het |
Mettl5 |
C |
T |
2: 69,711,723 (GRCm39) |
D48N |
probably benign |
Het |
Mfsd4a |
C |
T |
1: 131,969,628 (GRCm39) |
G442S |
probably damaging |
Het |
Mief2 |
A |
G |
11: 60,622,074 (GRCm39) |
T215A |
probably damaging |
Het |
Myt1 |
C |
T |
2: 181,452,135 (GRCm39) |
T824I |
probably damaging |
Het |
Nckap1l |
C |
T |
15: 103,382,277 (GRCm39) |
R491C |
probably damaging |
Het |
Nr1i2 |
A |
G |
16: 38,071,573 (GRCm39) |
M321T |
possibly damaging |
Het |
Nup107 |
A |
T |
10: 117,610,383 (GRCm39) |
I355N |
possibly damaging |
Het |
Or10j2 |
G |
A |
1: 173,098,183 (GRCm39) |
G147D |
possibly damaging |
Het |
Or10x4 |
A |
T |
1: 174,218,898 (GRCm39) |
N88Y |
probably benign |
Het |
Or1e28-ps1 |
A |
G |
11: 73,615,658 (GRCm39) |
I64T |
probably benign |
Het |
Or1l4b |
T |
G |
2: 37,036,518 (GRCm39) |
M98R |
probably damaging |
Het |
Or4a80 |
T |
G |
2: 89,582,636 (GRCm39) |
I179L |
probably benign |
Het |
Or4k35 |
T |
G |
2: 111,100,287 (GRCm39) |
I142L |
probably benign |
Het |
Pccb |
T |
C |
9: 100,876,634 (GRCm39) |
D320G |
possibly damaging |
Het |
Pcdhgb6 |
A |
T |
18: 37,875,561 (GRCm39) |
I90L |
probably benign |
Het |
Pik3r2 |
A |
G |
8: 71,221,459 (GRCm39) |
S682P |
probably damaging |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Plagl1 |
A |
G |
10: 13,004,466 (GRCm39) |
Q578R |
unknown |
Het |
Ppp1r42 |
A |
G |
1: 10,073,563 (GRCm39) |
I9T |
probably benign |
Het |
Ptcd3 |
A |
T |
6: 71,871,275 (GRCm39) |
I315K |
possibly damaging |
Het |
Rnf217 |
A |
G |
10: 31,484,402 (GRCm39) |
L260P |
probably damaging |
Het |
Selp |
A |
T |
1: 163,968,975 (GRCm39) |
H525L |
possibly damaging |
Het |
Sh3rf2 |
T |
A |
18: 42,244,347 (GRCm39) |
M303K |
probably benign |
Het |
Shprh |
A |
T |
10: 11,082,076 (GRCm39) |
I1549F |
probably damaging |
Het |
Slc38a7 |
G |
T |
8: 96,570,772 (GRCm39) |
A244D |
probably benign |
Het |
Stxbp6 |
G |
T |
12: 44,949,740 (GRCm39) |
T63K |
probably damaging |
Het |
Syne3 |
A |
G |
12: 104,898,468 (GRCm39) |
S962P |
probably damaging |
Het |
Syt10 |
T |
C |
15: 89,711,135 (GRCm39) |
I133V |
probably damaging |
Het |
Tars1 |
T |
A |
15: 11,394,446 (GRCm39) |
K64* |
probably null |
Het |
Tcaf3 |
A |
T |
6: 42,566,636 (GRCm39) |
W818R |
probably damaging |
Het |
Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
Tmem70 |
A |
C |
1: 16,735,659 (GRCm39) |
E43A |
probably benign |
Het |
Trim72 |
C |
A |
7: 127,609,092 (GRCm39) |
A298E |
probably damaging |
Het |
Washc5 |
C |
T |
15: 59,218,062 (GRCm39) |
|
probably null |
Het |
Zfp707 |
C |
A |
15: 75,847,085 (GRCm39) |
F378L |
possibly damaging |
Het |
Zfp839 |
G |
A |
12: 110,822,280 (GRCm39) |
A365T |
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 |
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 |
X0018:Naprt
|
UTSW |
15 |
75,764,206 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAATATGATGGAACCTCCCCTTC -3'
(R):5'- ACTGTGGAGCTGATCACTCG -3'
Sequencing Primer
(F):5'- GGAACCTCCCCTTCCCCAAC -3'
(R):5'- TGATCACTCGCCCCACAGG -3'
|
Posted On |
2022-10-06 |