Incidental Mutation 'R2860:Nmnat2'
ID 252794
Institutional Source Beutler Lab
Gene Symbol Nmnat2
Ensembl Gene ENSMUSG00000042751
Gene Name nicotinamide nucleotide adenylyltransferase 2
Synonyms D030041I09Rik, PNAT1
MMRRC Submission 040450-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2860 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 152830744-152995007 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 152988171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 267 (V267I)
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: V267I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041110
Gene: ENSMUSG00000042751
AA Change: V267I

DomainStartEndE-ValueType
Pfam:CTP_transf_like 12 276 2e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186368
AA Change: V267I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140585
Gene: ENSMUSG00000042751
AA Change: V267I

DomainStartEndE-ValueType
Pfam:CTP_transf_2 12 275 2e-32 PFAM
Meta Mutation Damage Score 0.1023 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency 100% (44/44)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,259,057 (GRCm39) S2928G probably damaging Het
Abcc9 C T 6: 142,571,736 (GRCm39) V1131M probably benign Het
Abcd1 T A X: 72,781,064 (GRCm39) L713H probably damaging Het
Actg1 T C 11: 120,237,627 (GRCm39) I52V probably benign Het
Ang G T 14: 51,339,275 (GRCm39) D139Y probably damaging Het
Ano1 C T 7: 144,143,749 (GRCm39) G1011E probably damaging Het
Apoe T C 7: 19,431,479 (GRCm39) Y46C probably damaging Het
Ash1l T C 3: 88,961,785 (GRCm39) W2386R probably damaging Het
Asph T C 4: 9,598,277 (GRCm39) D250G probably damaging Het
Atr A G 9: 95,756,296 (GRCm39) N836S probably benign Het
Bltp1 G A 3: 37,019,998 (GRCm39) S2079N probably damaging Het
Btg3 A G 16: 78,161,868 (GRCm39) V114A probably damaging Het
C2 T C 17: 35,082,854 (GRCm39) T471A possibly damaging Het
C4b T A 17: 34,953,732 (GRCm39) S959C probably damaging Het
Cap1 A T 4: 122,758,518 (GRCm39) S221T probably benign Het
Capn2 A T 1: 182,300,485 (GRCm39) probably benign Het
Cd38 A G 5: 44,058,775 (GRCm39) S130G probably damaging Het
Cd8b1 A G 6: 71,311,085 (GRCm39) R202G probably damaging Het
Col22a1 A G 15: 71,687,792 (GRCm39) probably null Het
Cps1 A T 1: 67,205,534 (GRCm39) E519V probably benign Het
Cyp2c38 G A 19: 39,449,138 (GRCm39) R72W probably benign Het
Cyp3a16 A T 5: 145,392,309 (GRCm39) Y215* probably null Het
Dennd10 T C 19: 60,803,232 (GRCm39) S80P probably benign Het
F5 A T 1: 164,012,533 (GRCm39) K482N probably damaging Het
Gab1 T C 8: 81,511,382 (GRCm39) M488V probably benign Het
Gabpb1 A G 2: 126,495,494 (GRCm39) I86T probably damaging Het
Gbx2 C T 1: 89,856,853 (GRCm39) R179Q probably damaging Het
Gm11938 C A 11: 99,493,972 (GRCm39) R41L probably damaging Het
Gpn1 A G 5: 31,654,664 (GRCm39) D72G probably damaging Het
Greb1 A G 12: 16,761,746 (GRCm39) S545P probably benign Het
Hsd3b7 T G 7: 127,401,442 (GRCm39) L189R probably damaging Het
Iglc1 T C 16: 18,880,660 (GRCm39) probably benign Het
Il18r1 T C 1: 40,537,717 (GRCm39) V494A possibly damaging Het
Inka1 T C 9: 107,861,603 (GRCm39) T238A probably benign Het
Itsn2 C A 12: 4,750,315 (GRCm39) probably benign Het
Kcnn1 T C 8: 71,299,179 (GRCm39) K487R probably benign Het
Kdf1 G A 4: 133,255,852 (GRCm39) E190K probably damaging Het
Lama3 G T 18: 12,586,807 (GRCm39) L723F probably damaging Het
Lama5 T C 2: 179,829,040 (GRCm39) T2034A probably benign Het
Maged1 G A X: 93,582,530 (GRCm39) P366S probably damaging Het
Med14 A G X: 12,585,936 (GRCm39) I521T probably benign Het
Mia2 A G 12: 59,201,196 (GRCm39) K841E probably damaging Het
Mrgbp G A 2: 180,225,203 (GRCm39) R53Q possibly damaging Het
Opn4 A G 14: 34,315,785 (GRCm39) probably null Het
Or2d2b T A 7: 106,705,675 (GRCm39) H131L probably benign Het
Or4f56 G T 2: 111,703,818 (GRCm39) C127* probably null Het
Or5p66 A G 7: 107,886,169 (GRCm39) S55P probably damaging Het
Or6k6 A G 1: 173,945,298 (GRCm39) Y95H probably damaging Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Parp16 G T 9: 65,141,086 (GRCm39) D219Y probably damaging Het
Pitpnm2 G C 5: 124,259,500 (GRCm39) H1224Q probably damaging Het
Pkd1 C T 17: 24,784,420 (GRCm39) T322I probably benign Het
Pkhd1l1 A C 15: 44,404,267 (GRCm39) T2299P probably damaging Het
Plin4 T C 17: 56,413,668 (GRCm39) D319G probably damaging Het
Ppp6r3 A C 19: 3,571,782 (GRCm39) S122R possibly damaging Het
Pum3 A T 19: 27,397,525 (GRCm39) probably benign Het
Pwwp3b G A X: 138,137,429 (GRCm39) G656S possibly damaging Het
Rims1 A T 1: 22,503,227 (GRCm39) F653I probably benign Het
Rnf113a1 A G X: 36,455,736 (GRCm39) E231G probably damaging Het
Rnf41 T C 10: 128,274,023 (GRCm39) L225P possibly damaging Het
Ryr2 T C 13: 11,607,979 (GRCm39) E876G probably damaging Het
Slc25a10 G A 11: 120,386,003 (GRCm39) V115M probably damaging Het
Snx13 T A 12: 35,188,116 (GRCm39) I798N probably benign Het
Sri A T 5: 8,117,540 (GRCm39) Q178L probably benign Het
Tex14 T G 11: 87,365,243 (GRCm39) D62E probably damaging Het
Tshz1 G T 18: 84,033,105 (GRCm39) H434Q probably damaging Het
Vegfd A G X: 163,168,879 (GRCm39) E57G probably damaging Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Vmn2r59 A G 7: 41,696,427 (GRCm39) I105T possibly damaging Het
Vmn2r6 G T 3: 64,454,760 (GRCm39) T513N probably benign Het
Vmn2r72 A T 7: 85,400,044 (GRCm39) I335N probably damaging Het
Wiz G T 17: 32,580,680 (GRCm39) T257K probably damaging Het
Xirp1 A G 9: 119,847,444 (GRCm39) S41P probably benign Het
Xirp1 T C 9: 119,848,881 (GRCm39) M1V probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- AAAGTGAGTCCTCCATCCCC -3'
(R):5'- TGTCCACTTGAATCTAAGAGTCG -3'

Sequencing Primer
(F):5'- CTGCTGGTACACCTCTGAGATACTG -3'
(R):5'- GGTCTCCTTATCTGAAACTTGAAGC -3'
Posted On 2014-12-04