Incidental Mutation 'IGL01916:Nmnat2'
ID 179927
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 # IGL01916
Quality Score
Status
Chromosome 1
Chromosomal Location 152830744-152995007 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 152969792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 195 (I195T)
Ref Sequence ENSEMBL: ENSMUSP00000041110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043313] [ENSMUST00000186368] [ENSMUST00000186621]
AlphaFold Q8BNJ3
Predicted Effect probably damaging
Transcript: ENSMUST00000043313
AA Change: I195T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041110
Gene: ENSMUSG00000042751
AA Change: I195T

DomainStartEndE-ValueType
Pfam:CTP_transf_like 12 276 2e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000186368
AA Change: I195T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140585
Gene: ENSMUSG00000042751
AA Change: I195T

DomainStartEndE-ValueType
Pfam:CTP_transf_2 12 275 2e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000186621
AA Change: I171T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140497
Gene: ENSMUSG00000042751
AA Change: I171T

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T C 11: 109,684,937 (GRCm39) T187A probably damaging Het
A430005L14Rik C A 4: 154,045,997 (GRCm39) F214L possibly damaging Het
A830018L16Rik C A 1: 11,818,331 (GRCm39) probably benign Het
Adgrd1 T C 5: 129,209,902 (GRCm39) S342P probably benign Het
Aldh4a1 A G 4: 139,371,457 (GRCm39) Y457C probably damaging Het
Ankrd7 A T 6: 18,868,250 (GRCm39) E124V possibly damaging Het
Atad5 T A 11: 80,003,665 (GRCm39) probably null Het
Card14 T C 11: 119,233,971 (GRCm39) Y854H probably benign Het
Ccdc85c T C 12: 108,174,103 (GRCm39) H355R probably damaging Het
Ccr3 T A 9: 123,829,589 (GRCm39) V308D probably damaging Het
Cep170 T C 1: 176,567,476 (GRCm39) probably benign Het
Cmtr2 C A 8: 110,948,580 (GRCm39) Q297K probably benign Het
Col19a1 A C 1: 24,573,322 (GRCm39) L150R unknown Het
Cwf19l2 T C 9: 3,477,869 (GRCm39) I858T possibly damaging Het
Cyp39a1 C T 17: 44,041,941 (GRCm39) P383S probably damaging Het
Ddi2 C T 4: 141,422,709 (GRCm39) probably benign Het
Dnah17 T G 11: 118,016,114 (GRCm39) I342L probably benign Het
Efhc1 T C 1: 21,048,973 (GRCm39) I462T probably damaging Het
Ephx4 A T 5: 107,553,896 (GRCm39) probably null Het
Fam193b A G 13: 55,698,031 (GRCm39) probably benign Het
Fbn1 T C 2: 125,157,366 (GRCm39) N2306D possibly damaging Het
Folr1 A T 7: 101,507,947 (GRCm39) H164Q probably benign Het
Fut10 T C 8: 31,725,734 (GRCm39) V163A probably benign Het
Gal3st4 G A 5: 138,269,197 (GRCm39) R83C probably damaging Het
Galnt16 T C 12: 80,639,264 (GRCm39) probably null Het
Gata5 G A 2: 179,968,734 (GRCm39) S380F possibly damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm4787 A T 12: 81,424,218 (GRCm39) L647M probably benign Het
Gvin3 T G 7: 106,201,033 (GRCm39) H737P probably benign Het
Hcfc2 A G 10: 82,570,217 (GRCm39) K523E possibly damaging Het
Ift70a1 C A 2: 75,811,223 (GRCm39) V287L probably damaging Het
Igkv6-15 A T 6: 70,383,458 (GRCm39) Y114* probably null Het
Il10ra A T 9: 45,167,444 (GRCm39) L369Q probably damaging Het
Il6st A G 13: 112,616,606 (GRCm39) K51R possibly damaging Het
Kif26a C T 12: 112,143,328 (GRCm39) P1194L possibly damaging Het
Kntc1 T G 5: 123,939,976 (GRCm39) L1590R probably damaging Het
Lipo3 G T 19: 33,762,182 (GRCm39) A105E probably damaging Het
Macf1 T A 4: 123,335,423 (GRCm39) S4382C probably damaging Het
Macf1 C T 4: 123,369,830 (GRCm39) E79K probably damaging Het
Or11g25 A G 14: 50,722,950 (GRCm39) T12A probably benign Het
Pcdhb13 A G 18: 37,576,914 (GRCm39) T431A possibly damaging Het
Pcgf3 G A 5: 108,634,045 (GRCm39) G101D probably benign Het
Phip T C 9: 82,772,522 (GRCm39) D1070G possibly damaging Het
Ren1 A G 1: 133,286,150 (GRCm39) H231R probably benign Het
Sox9 C A 11: 112,675,500 (GRCm39) Q230K probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Stard9 T A 2: 120,498,497 (GRCm39) Y154N probably damaging Het
Thnsl1 A T 2: 21,217,476 (GRCm39) N410I possibly damaging Het
Tnfrsf21 A T 17: 43,350,694 (GRCm39) E286V probably benign Het
Trbv13-1 A G 6: 41,093,246 (GRCm39) R60G probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Wrn T A 8: 33,747,252 (GRCm39) I1110F possibly damaging Het
Zfp777 G T 6: 48,002,276 (GRCm39) R649S probably damaging Het
Zmym6 T A 4: 127,017,549 (GRCm39) I1110N probably damaging Het
Other mutations in Nmnat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Nmnat2 APN 1 152,969,863 (GRCm39) splice site probably null
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
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 2014-05-07