Incidental Mutation 'IGL01447:Nmnat2'
ID 84463
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nmnat2
Ensembl Gene ENSMUSG00000042751
Gene Name nicotinamide nucleotide adenylyltransferase 2
Synonyms D030041I09Rik, PNAT1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01447
Quality Score
Status
Chromosome 1
Chromosomal Location 152830744-152995007 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 152988189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 273 (S273G)
Ref Sequence ENSEMBL: ENSMUSP00000140585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043313] [ENSMUST00000186368]
AlphaFold Q8BNJ3
Predicted Effect probably benign
Transcript: ENSMUST00000043313
AA Change: S273G

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000041110
Gene: ENSMUSG00000042751
AA Change: S273G

DomainStartEndE-ValueType
Pfam:CTP_transf_like 12 276 2e-26 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000186368
AA Change: S273G

PolyPhen 2 Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140585
Gene: ENSMUSG00000042751
AA Change: S273G

DomainStartEndE-ValueType
Pfam:CTP_transf_2 12 275 2e-32 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family, members of which catalyze an essential step in NAD (NADP) biosynthetic pathway. Unlike the other human family member, which is localized to the nucleus, and is ubiquitously expressed; this enzyme is cytoplasmic, and is predominantly expressed in the brain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap or transposon inserted allele exhibit perinatal lethality, distended bladders, atelectasis and loss of axon integrity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apbb1ip T G 2: 22,743,194 (GRCm39) I342S probably damaging Het
Armh4 A T 14: 50,005,923 (GRCm39) S591T probably damaging Het
Atp6v1e1 T C 6: 120,772,654 (GRCm39) probably benign Het
Brwd1 A T 16: 95,848,579 (GRCm39) C533* probably null Het
Cacna2d4 A G 6: 119,219,865 (GRCm39) S212G probably damaging Het
Ccn5 A G 2: 163,670,942 (GRCm39) R150G probably damaging Het
Cit T C 5: 116,011,902 (GRCm39) probably benign Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Cmklr1 T C 5: 113,752,282 (GRCm39) T240A probably benign Het
D630003M21Rik T C 2: 158,059,276 (GRCm39) D208G probably benign Het
Egr3 C A 14: 70,316,732 (GRCm39) P143Q probably damaging Het
Fbxw18 T A 9: 109,530,675 (GRCm39) S41C probably damaging Het
Focad T A 4: 88,244,465 (GRCm39) I815N unknown Het
Heatr5b T C 17: 79,137,026 (GRCm39) T165A probably benign Het
Iqub G T 6: 24,505,627 (GRCm39) L94I probably benign Het
Lrrc32 T C 7: 98,147,583 (GRCm39) L121P probably damaging Het
Mansc1 G A 6: 134,594,289 (GRCm39) L118F probably damaging Het
Mtor A G 4: 148,615,214 (GRCm39) H1693R possibly damaging Het
Muc5b A G 7: 141,416,831 (GRCm39) Q3259R probably benign Het
Npr2 T C 4: 43,640,554 (GRCm39) C336R possibly damaging Het
Or10al6 C T 17: 38,083,122 (GRCm39) L193F probably damaging Het
Or1f19 A G 16: 3,410,848 (GRCm39) N196S possibly damaging Het
Or1j11 A T 2: 36,311,466 (GRCm39) I19F probably damaging Het
Or56b1b A G 7: 108,164,216 (GRCm39) V262A possibly damaging Het
Or5aq1 A T 2: 86,966,343 (GRCm39) Y107* probably null Het
Or5d36 T C 2: 87,901,468 (GRCm39) N86S possibly damaging Het
Rad54l2 C T 9: 106,579,971 (GRCm39) A967T probably damaging Het
Rspo1 T C 4: 124,898,829 (GRCm39) V50A possibly damaging Het
Sar1b C T 11: 51,682,274 (GRCm39) probably benign Het
Scamp1 C T 13: 94,340,530 (GRCm39) A280T probably damaging Het
Spcs2 A G 7: 99,488,911 (GRCm39) I251T probably benign Het
Sspo G T 6: 48,441,600 (GRCm39) probably null Het
Tpm2 T A 4: 43,518,251 (GRCm39) K251* probably null Het
Ttn A G 2: 76,571,250 (GRCm39) S26548P probably damaging Het
Ugcg T G 4: 59,213,865 (GRCm39) V149G possibly damaging Het
Unc79 T A 12: 103,045,177 (GRCm39) N784K probably damaging Het
Vit A G 17: 78,932,633 (GRCm39) D580G probably damaging Het
Vmn1r83 T C 7: 12,055,424 (GRCm39) K211R probably benign Het
Zbtb3 A G 19: 8,781,680 (GRCm39) Y431C probably damaging Het
Zfp608 T C 18: 55,032,083 (GRCm39) D619G possibly damaging Het
Other mutations in Nmnat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Nmnat2 APN 1 152,969,863 (GRCm39) splice site probably null
IGL01686:Nmnat2 APN 1 152,952,743 (GRCm39) splice site probably benign
IGL01916:Nmnat2 APN 1 152,969,792 (GRCm39) missense probably damaging 0.99
R0309:Nmnat2 UTSW 1 152,952,747 (GRCm39) splice site probably benign
R1245:Nmnat2 UTSW 1 152,987,949 (GRCm39) missense probably benign 0.12
R1475:Nmnat2 UTSW 1 152,950,441 (GRCm39) missense probably damaging 1.00
R1780:Nmnat2 UTSW 1 152,988,186 (GRCm39) nonsense probably null
R2860:Nmnat2 UTSW 1 152,988,171 (GRCm39) missense probably benign
R2861:Nmnat2 UTSW 1 152,988,171 (GRCm39) missense probably benign
R2862:Nmnat2 UTSW 1 152,988,171 (GRCm39) missense probably benign
R2939:Nmnat2 UTSW 1 152,950,474 (GRCm39) missense probably damaging 1.00
R5590:Nmnat2 UTSW 1 152,969,807 (GRCm39) missense probably damaging 1.00
R6056:Nmnat2 UTSW 1 152,950,480 (GRCm39) nonsense probably null
R6267:Nmnat2 UTSW 1 152,952,717 (GRCm39) missense probably damaging 1.00
R9287:Nmnat2 UTSW 1 152,962,138 (GRCm39) missense probably damaging 0.98
R9334:Nmnat2 UTSW 1 152,949,585 (GRCm39) missense probably damaging 1.00
R9481:Nmnat2 UTSW 1 152,962,181 (GRCm39) missense possibly damaging 0.81
Posted On 2013-11-11