Incidental Mutation 'IGL01686:Nmnat2'
ID 103978
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nmnat2
Ensembl Gene ENSMUSG00000042751
Gene Name nicotinamide nucleotide adenylyltransferase 2
Synonyms PNAT1, D030041I09Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01686
Quality Score
Status
Chromosome 1
Chromosomal Location 152954993-153119261 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 153076997 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043313] [ENSMUST00000186368] [ENSMUST00000186621]
AlphaFold Q8BNJ3
Predicted Effect probably benign
Transcript: ENSMUST00000043313
SMART Domains Protein: ENSMUSP00000041110
Gene: ENSMUSG00000042751

DomainStartEndE-ValueType
Pfam:CTP_transf_like 12 276 2e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185241
Predicted Effect probably benign
Transcript: ENSMUST00000186368
SMART Domains Protein: ENSMUSP00000140585
Gene: ENSMUSG00000042751

DomainStartEndE-ValueType
Pfam:CTP_transf_2 12 275 2e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186621
SMART Domains Protein: ENSMUSP00000140497
Gene: ENSMUSG00000042751

DomainStartEndE-ValueType
Pfam:CTP_transf_2 1 184 9e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190117
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,603,075 V1316A possibly damaging Het
Ada T G 2: 163,730,316 K254N probably benign Het
Adamts17 A G 7: 66,840,289 R40G probably benign Het
Akr1d1 C T 6: 37,530,243 probably benign Het
Aldh1l1 T A 6: 90,559,233 probably benign Het
Bbox1 T A 2: 110,265,486 I378F probably benign Het
BC028528 T C 3: 95,888,900 N50S probably damaging Het
Casp8ap2 T A 4: 32,641,294 S783T possibly damaging Het
Cmpk2 C T 12: 26,477,178 R389W probably damaging Het
Cplx1 C T 5: 108,548,527 probably null Het
Crim1 T C 17: 78,344,434 L529P probably benign Het
Ctps A G 4: 120,553,986 S278P probably benign Het
Defb21 C A 2: 152,574,901 probably benign Het
Ecm1 T A 3: 95,736,064 N308I probably benign Het
Flg2 T C 3: 93,202,284 S540P unknown Het
Gabrp G T 11: 33,552,826 S346* probably null Het
Gli2 C A 1: 118,848,435 C419F probably damaging Het
Grid2 T A 6: 64,320,196 F514L probably benign Het
Hormad1 T G 3: 95,578,269 M256R probably benign Het
Itsn2 T G 12: 4,636,693 probably benign Het
Klhl38 A T 15: 58,323,311 D7E probably benign Het
Map3k1 G A 13: 111,754,662 T1248I possibly damaging Het
Mki67 A T 7: 135,707,813 V303E probably benign Het
Mterf4 A T 1: 93,304,721 L136* probably null Het
Mtmr14 A G 6: 113,240,430 D61G possibly damaging Het
Nf2 A T 11: 4,818,613 D85E probably benign Het
Olfm3 T A 3: 115,122,848 D476E probably benign Het
Olfr297 T C 7: 86,526,778 V7A probably benign Het
Olfr920 T A 9: 38,756,254 C189S probably damaging Het
Pdia6 T C 12: 17,283,957 probably benign Het
Prrg1 G A X: 78,483,782 A47V probably damaging Het
Rgs22 A T 15: 36,103,835 I160K probably benign Het
Sardh T C 2: 27,189,613 Y889C probably damaging Het
Syne2 C A 12: 75,909,336 D605E probably benign Het
Other mutations in Nmnat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Nmnat2 APN 1 153094117 splice site probably null
IGL01447:Nmnat2 APN 1 153112443 missense possibly damaging 0.50
IGL01916:Nmnat2 APN 1 153094046 missense probably damaging 0.99
R0309:Nmnat2 UTSW 1 153077001 splice site probably benign
R1245:Nmnat2 UTSW 1 153112203 missense probably benign 0.12
R1475:Nmnat2 UTSW 1 153074695 missense probably damaging 1.00
R1780:Nmnat2 UTSW 1 153112440 nonsense probably null
R2860:Nmnat2 UTSW 1 153112425 missense probably benign
R2861:Nmnat2 UTSW 1 153112425 missense probably benign
R2862:Nmnat2 UTSW 1 153112425 missense probably benign
R2939:Nmnat2 UTSW 1 153074728 missense probably damaging 1.00
R5590:Nmnat2 UTSW 1 153094061 missense probably damaging 1.00
R6056:Nmnat2 UTSW 1 153074734 nonsense probably null
R6267:Nmnat2 UTSW 1 153076971 missense probably damaging 1.00
R9287:Nmnat2 UTSW 1 153086392 missense probably damaging 0.98
R9334:Nmnat2 UTSW 1 153073839 missense probably damaging 1.00
Posted On 2014-01-21