Incidental Mutation 'IGL00401:Nmnat2'
ID7347
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nmnat2
Ensembl Gene ENSMUSG00000042751
Gene Namenicotinamide nucleotide adenylyltransferase 2
SynonymsPNAT1, D030041I09Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00401
Quality Score
Status
Chromosome1
Chromosomal Location152954993-153119261 bp(+) (GRCm38)
Type of Mutationsplice site (4 bp from exon)
DNA Base Change (assembly) A to G at 153094117 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000041110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043313] [ENSMUST00000186368] [ENSMUST00000186621]
Predicted Effect probably null
Transcript: ENSMUST00000043313
SMART Domains Protein: ENSMUSP00000041110
Gene: ENSMUSG00000042751

DomainStartEndE-ValueType
Pfam:CTP_transf_like 12 276 2e-26 PFAM
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: ENSMUST00000190117
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190960
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alk T A 17: 71,895,748 D1164V probably damaging Het
Baiap3 T G 17: 25,244,328 L964F probably damaging Het
Cacna2d2 T A 9: 107,514,873 V471E probably damaging Het
Carmil3 C T 14: 55,498,298 T569M probably damaging Het
Dapk2 G T 9: 66,268,778 probably benign Het
Eps15l1 A T 8: 72,384,838 Y291* probably null Het
Fancd2 T C 6: 113,564,396 probably null Het
Fmnl2 T G 2: 53,114,917 D674E probably damaging Het
Foxq1 A T 13: 31,559,277 I121F probably damaging Het
Galnt13 C T 2: 54,516,535 probably benign Het
Git1 T C 11: 77,498,956 probably benign Het
Gm10220 A T 5: 26,118,611 F146Y possibly damaging Het
Gm7353 A G 7: 3,110,630 noncoding transcript Het
Hspa9 G A 18: 34,938,580 probably benign Het
Kptn A G 7: 16,120,125 D56G possibly damaging Het
Krtap4-13 A T 11: 99,809,717 C39S unknown Het
Lgsn A G 1: 31,203,566 K243R possibly damaging Het
Lyz2 C T 10: 117,282,185 V20I probably benign Het
Mettl3 T A 14: 52,296,967 probably benign Het
Myh6 T A 14: 54,953,417 M934L probably benign Het
Pias2 T A 18: 77,133,211 C381S probably damaging Het
Psme4 T C 11: 30,821,079 probably benign Het
Smc4 T A 3: 69,030,379 D887E probably damaging Het
Sorcs2 C A 5: 36,037,401 probably null Het
Tet2 T C 3: 133,466,882 E1873G possibly damaging Het
Txlng T A X: 162,782,309 K341* probably null Het
Ugt2b37 T A 5: 87,242,481 T369S possibly damaging Het
Usp46 C A 5: 74,003,171 V302F probably damaging Het
Zfp292 A G 4: 34,808,683 C1454R probably benign Het
Other mutations in Nmnat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01447:Nmnat2 APN 1 153112443 missense possibly damaging 0.50
IGL01686:Nmnat2 APN 1 153076997 splice site probably benign
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
Posted On2012-04-20