Incidental Mutation 'R9481:Nmnat2'
ID 716218
Institutional Source Beutler Lab
Gene Symbol Nmnat2
Ensembl Gene ENSMUSG00000042751
Gene Name nicotinamide nucleotide adenylyltransferase 2
Synonyms D030041I09Rik, PNAT1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9481 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 152830744-152995007 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 152962181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 140 (N140K)
Ref Sequence ENSEMBL: ENSMUSP00000041110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043313] [ENSMUST00000186368] [ENSMUST00000186621]
AlphaFold Q8BNJ3
Predicted Effect possibly damaging
Transcript: ENSMUST00000043313
AA Change: N140K

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000041110
Gene: ENSMUSG00000042751
AA Change: N140K

DomainStartEndE-ValueType
Pfam:CTP_transf_like 12 276 2e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186368
AA Change: N140K

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000140585
Gene: ENSMUSG00000042751
AA Change: N140K

DomainStartEndE-ValueType
Pfam:CTP_transf_2 12 275 2e-32 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000186621
AA Change: N116K

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140497
Gene: ENSMUSG00000042751
AA Change: N116K

DomainStartEndE-ValueType
Pfam:CTP_transf_2 1 184 9e-13 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Acsf2 C T 11: 94,464,044 (GRCm39) V47M probably benign Het
Ahcyl1 A T 3: 107,579,388 (GRCm39) C215* probably null Het
Ambn G T 5: 88,613,050 (GRCm39) probably null Het
Apol9b G T 15: 77,619,656 (GRCm39) V151L probably benign Het
Arid1b A G 17: 5,369,007 (GRCm39) Y1070C probably damaging Het
Arnt T C 3: 95,391,092 (GRCm39) L322P possibly damaging Het
Bdnf A G 2: 109,553,935 (GRCm39) D103G possibly damaging Het
Ccdc9 A T 7: 16,016,761 (GRCm39) D42E probably damaging Het
Cdh13 A G 8: 119,963,676 (GRCm39) T419A Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Clasp2 A T 9: 113,670,669 (GRCm39) R329W probably damaging Het
Csmd3 A G 15: 47,470,459 (GRCm39) C2495R Het
Cyba A T 8: 123,154,394 (GRCm39) I43N possibly damaging Het
Cyp2a5 A C 7: 26,540,511 (GRCm39) T375P possibly damaging Het
Cyp2r1 A G 7: 114,152,369 (GRCm39) F196S probably damaging Het
Efcab2 T C 1: 178,308,887 (GRCm39) F130S probably damaging Het
Eml6 T G 11: 29,788,641 (GRCm39) probably null Het
Fbln5 A T 12: 101,734,728 (GRCm39) C181* probably null Het
Glyatl3 A G 17: 41,221,016 (GRCm39) V117A probably benign Het
Gpc6 A G 14: 117,163,432 (GRCm39) S29G probably benign Het
Hadhb T G 5: 30,368,711 (GRCm39) S13A probably benign Het
Hook1 C T 4: 95,901,505 (GRCm39) R488C probably damaging Het
Icam5 A G 9: 20,948,877 (GRCm39) Y743C probably damaging Het
Il15ra T C 2: 11,724,854 (GRCm39) V108A probably benign Het
Itga1 T C 13: 115,152,753 (GRCm39) N223S probably benign Het
Kat6b AGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGA 14: 21,712,417 (GRCm39) probably benign Het
Kcnk1 T C 8: 126,756,281 (GRCm39) C268R probably damaging Het
Kctd19 A T 8: 106,120,249 (GRCm39) L264M probably benign Het
Kmt2c A T 5: 25,554,860 (GRCm39) I1258K probably benign Het
Kmt2c A T 5: 25,497,907 (GRCm39) D3949E probably damaging Het
Lyst G A 13: 13,857,653 (GRCm39) E2481K possibly damaging Het
Megf10 T A 18: 57,395,090 (GRCm39) I484N probably benign Het
Mettl21e T C 1: 44,245,857 (GRCm39) I130V probably benign Het
Nsmaf T C 4: 6,414,976 (GRCm39) K630R probably benign Het
Or2t1 C T 14: 14,328,756 (GRCm38) S215L probably benign Het
Or5w15 A T 2: 87,568,576 (GRCm39) F31I probably benign Het
Or8b38 G T 9: 37,972,707 (GRCm39) L30F probably benign Het
Or8g26 T C 9: 39,096,172 (GRCm39) S230P possibly damaging Het
Pafah1b2 G A 9: 45,884,284 (GRCm39) Q123* probably null Het
Ptprb T A 10: 116,155,353 (GRCm39) N415K probably benign Het
Rev3l T A 10: 39,701,033 (GRCm39) D1843E probably benign Het
Rps6ka4 T A 19: 6,809,372 (GRCm39) R427S possibly damaging Het
Scgb2b24 A T 7: 33,436,795 (GRCm39) L106I probably benign Het
Skint9 A T 4: 112,248,915 (GRCm39) M171K probably benign Het
Spata17 A G 1: 186,844,756 (GRCm39) V281A possibly damaging Het
Spef1 A T 2: 131,014,625 (GRCm39) V99E probably damaging Het
Srpra C T 9: 35,126,015 (GRCm39) T431I probably damaging Het
Stk32c G A 7: 138,768,173 (GRCm39) P36L unknown Het
Taar7d T C 10: 23,903,739 (GRCm39) I207T probably benign Het
Tle1 G A 4: 72,044,504 (GRCm39) T501I probably damaging Het
Tmem88b A T 4: 155,868,733 (GRCm39) W172R probably damaging Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Vcl G T 14: 21,070,726 (GRCm39) V771L probably benign Het
Vmn1r200 T A 13: 22,579,911 (GRCm39) M238K probably damaging Het
Vmn2r96 A G 17: 18,793,621 (GRCm39) probably benign Het
Vsig10l G T 7: 43,112,795 (GRCm39) E18* probably null Het
Wdfy3 A G 5: 102,000,478 (GRCm39) L2964P probably benign Het
Zfp334 G A 2: 165,222,271 (GRCm39) R591W probably damaging Het
Zpld2 G A 4: 133,929,312 (GRCm39) P331L probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GCAATTGGGCCATGAGTCTC -3'
(R):5'- GCTCCCTAGAAGAGGCAAAG -3'

Sequencing Primer
(F):5'- ATGAGTCTCAGTGCCCCTG -3'
(R):5'- GGCAAAGAAAAATGTTCCCTTTCAC -3'
Posted On 2022-07-18