Incidental Mutation 'IGL00401:Nmnat2'
ID 7347
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 # IGL00401
Quality Score
Status
Chromosome 1
Chromosomal Location 152830744-152995007 bp(+) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) A to G at 152969863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000041110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043313] [ENSMUST00000186368] [ENSMUST00000186621]
AlphaFold Q8BNJ3
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: 72,202,743 (GRCm39) D1164V probably damaging Het
Baiap3 T G 17: 25,463,302 (GRCm39) L964F probably damaging Het
Cacna2d2 T A 9: 107,392,072 (GRCm39) V471E probably damaging Het
Carmil3 C T 14: 55,735,755 (GRCm39) T569M probably damaging Het
Dapk2 G T 9: 66,176,060 (GRCm39) probably benign Het
Eps15l1 A T 8: 73,138,682 (GRCm39) Y291* probably null Het
Fancd2 T C 6: 113,541,357 (GRCm39) probably null Het
Fmnl2 T G 2: 53,004,929 (GRCm39) D674E probably damaging Het
Foxq1 A T 13: 31,743,260 (GRCm39) I121F probably damaging Het
Galnt13 C T 2: 54,406,547 (GRCm39) probably benign Het
Git1 T C 11: 77,389,782 (GRCm39) probably benign Het
Gm10220 A T 5: 26,323,609 (GRCm39) F146Y possibly damaging Het
Gm7353 A G 7: 3,160,630 (GRCm39) noncoding transcript Het
Hspa9 G A 18: 35,071,633 (GRCm39) probably benign Het
Kptn A G 7: 15,854,050 (GRCm39) D56G possibly damaging Het
Krtap4-13 A T 11: 99,700,543 (GRCm39) C39S unknown Het
Lgsn A G 1: 31,242,647 (GRCm39) K243R possibly damaging Het
Lyz2 C T 10: 117,118,090 (GRCm39) V20I probably benign Het
Mettl3 T A 14: 52,534,424 (GRCm39) probably benign Het
Myh6 T A 14: 55,190,874 (GRCm39) M934L probably benign Het
Pias2 T A 18: 77,220,907 (GRCm39) C381S probably damaging Het
Psme4 T C 11: 30,771,079 (GRCm39) probably benign Het
Smc4 T A 3: 68,937,712 (GRCm39) D887E probably damaging Het
Sorcs2 C A 5: 36,194,745 (GRCm39) probably null Het
Tet2 T C 3: 133,172,643 (GRCm39) E1873G possibly damaging Het
Txlng T A X: 161,565,305 (GRCm39) K341* probably null Het
Ugt2b37 T A 5: 87,390,340 (GRCm39) T369S possibly damaging Het
Usp46 C A 5: 74,163,832 (GRCm39) V302F probably damaging Het
Zfp292 A G 4: 34,808,683 (GRCm39) C1454R probably benign Het
Other mutations in Nmnat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01447:Nmnat2 APN 1 152,988,189 (GRCm39) missense possibly damaging 0.50
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 2012-04-20