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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
PDB:4MZY|A 16 522 2e-70 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000089680
SMART Domains Protein: ENSMUSP00000087109
Gene: ENSMUSG00000055762

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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