Incidental Mutation 'IGL02948:Naprt'
ID 364848
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) question?
Stock # IGL02948
Quality Score
Status
Chromosome 15
Chromosomal Location 75762812-75766330 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 75764206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 336 (R336Q)
Ref Sequence ENSEMBL: ENSMUSP00000155290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023235] [ENSMUST00000023237] [ENSMUST00000089680] [ENSMUST00000089681] [ENSMUST00000109972] [ENSMUST00000109975] [ENSMUST00000229571] [ENSMUST00000184858] [ENSMUST00000123712] [ENSMUST00000137426] [ENSMUST00000154584] [ENSMUST00000116440] [ENSMUST00000144614] [ENSMUST00000141268] [ENSMUST00000151066]
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 probably benign
Transcript: ENSMUST00000023237
AA Change: R336Q

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000023237
Gene: ENSMUSG00000022574
AA Change: R336Q

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 noncoding transcript
Transcript: ENSMUST00000129800
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134222
Predicted Effect probably damaging
Transcript: ENSMUST00000229571
AA Change: R336Q

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
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 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: 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 noncoding transcript
Transcript: ENSMUST00000230259
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: 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: 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: 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 noncoding transcript
Transcript: ENSMUST00000230739
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,094,318 (GRCm39) probably benign Het
Ano3 A T 2: 110,527,363 (GRCm39) probably benign Het
Arpp21 T C 9: 112,005,268 (GRCm39) Y193C probably damaging Het
Atm G A 9: 53,364,740 (GRCm39) probably benign Het
Ceacam13 C T 7: 17,744,988 (GRCm39) probably benign Het
Cenpi T A X: 133,250,017 (GRCm39) C599S possibly damaging Het
Clec7a A C 6: 129,442,441 (GRCm39) D195E possibly damaging Het
Cnksr1 T C 4: 133,962,417 (GRCm39) probably null Het
Cntn1 A G 15: 92,143,891 (GRCm39) T285A probably benign Het
Dusp4 G T 8: 35,285,726 (GRCm39) G329V probably damaging Het
Emb C A 13: 117,409,602 (GRCm39) probably benign Het
Esyt1 A T 10: 128,355,040 (GRCm39) S496T probably damaging Het
Evpl T C 11: 116,112,648 (GRCm39) T1681A probably damaging Het
Fam131b A C 6: 42,297,926 (GRCm39) probably benign Het
Fam162b T C 10: 51,463,392 (GRCm39) M92V probably damaging Het
Fbxw2 T C 2: 34,695,723 (GRCm39) *455W probably null Het
Gm12886 A G 4: 121,280,234 (GRCm39) L14P unknown Het
Gpc4 A T X: 51,163,178 (GRCm39) V235E probably damaging Het
Gss A G 2: 155,419,541 (GRCm39) L170P probably damaging Het
Hbs1l C T 10: 21,217,610 (GRCm39) probably benign Het
Hhatl T C 9: 121,618,857 (GRCm39) M92V probably benign Het
Hhla1 A T 15: 65,814,542 (GRCm39) L194H probably damaging Het
Hivep2 C A 10: 14,004,757 (GRCm39) R452S probably benign Het
Homer2 C A 7: 81,299,393 (GRCm39) W24L probably damaging Het
Lhcgr A T 17: 89,050,050 (GRCm39) L492H probably damaging Het
Lrba C A 3: 86,217,691 (GRCm39) probably null Het
Lrp2 G T 2: 69,318,181 (GRCm39) P2090Q probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Madd T A 2: 90,973,172 (GRCm39) M1497L probably benign Het
Nars1 A G 18: 64,638,266 (GRCm39) C266R possibly damaging Het
Or10v1 T A 19: 11,874,145 (GRCm39) Y253* probably null Het
Or5k8 T A 16: 58,644,451 (GRCm39) Q207L probably benign Het
Pard3 A T 8: 128,032,975 (GRCm39) T190S probably benign Het
Pstpip2 A G 18: 77,942,507 (GRCm39) N86S probably benign Het
Ptgfrn T C 3: 100,980,135 (GRCm39) T402A probably benign Het
Rnf130 T C 11: 49,943,598 (GRCm39) probably benign Het
Ropn1l T C 15: 31,451,325 (GRCm39) D53G possibly damaging Het
Rps6ka2 G A 17: 7,521,849 (GRCm39) probably null Het
Rtn2 T C 7: 19,027,036 (GRCm39) S17P probably damaging Het
Shank2 T C 7: 143,963,373 (GRCm39) V327A probably benign Het
Slc22a16 T G 10: 40,449,958 (GRCm39) Y131* probably null Het
Slc28a2 T A 2: 122,288,458 (GRCm39) M583K possibly damaging Het
Slco1a6 G T 6: 142,078,961 (GRCm39) probably null Het
Slfn8 T A 11: 82,894,078 (GRCm39) I854F probably damaging Het
Strip1 T C 3: 107,520,582 (GRCm39) R823G probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tcl1b5 C T 12: 105,145,273 (GRCm39) T79M probably benign Het
Tmem104 G T 11: 115,088,122 (GRCm39) A36S probably damaging Het
Trim55 T A 3: 19,725,116 (GRCm39) L211Q probably damaging Het
Trim80 T C 11: 115,332,419 (GRCm39) W204R possibly damaging Het
Ttbk1 G A 17: 46,757,256 (GRCm39) T1126I probably benign Het
Ubqln2 C T X: 152,282,692 (GRCm39) Q415* probably null Het
Unc13a C T 8: 72,103,193 (GRCm39) R931H possibly damaging Het
Utp4 T A 8: 107,621,273 (GRCm39) S17T probably benign 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
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 2015-12-18