Incidental Mutation 'R6373:Nmt2'
ID 513612
Institutional Source Beutler Lab
Gene Symbol Nmt2
Ensembl Gene ENSMUSG00000026643
Gene Name N-myristoyltransferase 2
Synonyms hNMT-2, A930001K02Rik
MMRRC Submission 044523-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R6373 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 3285249-3329914 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3325988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 462 (T462A)
Ref Sequence ENSEMBL: ENSMUSP00000080600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062672] [ENSMUST00000081932] [ENSMUST00000091504] [ENSMUST00000102989]
AlphaFold O70311
Predicted Effect probably benign
Transcript: ENSMUST00000062672
SMART Domains Protein: ENSMUSP00000050992
Gene: ENSMUSG00000049950

DomainStartEndE-ValueType
low complexity region 63 74 N/A INTRINSIC
Pfam:Ribosomal_L7Ae 96 185 2.2e-16 PFAM
low complexity region 262 280 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000081932
AA Change: T462A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000080600
Gene: ENSMUSG00000026643
AA Change: T462A

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
low complexity region 46 58 N/A INTRINSIC
Pfam:NMT 170 327 1e-78 PFAM
Pfam:NMT_C 341 528 2.9e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000091504
AA Change: T418A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000089085
Gene: ENSMUSG00000026643
AA Change: T418A

DomainStartEndE-ValueType
low complexity region 19 30 N/A INTRINSIC
Pfam:NMT 124 283 2e-84 PFAM
Pfam:NMT_C 297 484 1.4e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102989
AA Change: T431A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000100054
Gene: ENSMUSG00000026643
AA Change: T431A

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
low complexity region 46 58 N/A INTRINSIC
Pfam:NMT 137 296 7.8e-85 PFAM
Pfam:NMT_C 310 497 6.4e-88 PFAM
Meta Mutation Damage Score 0.1532 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 95% (37/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two N-myristoyltransferase proteins. N-terminal myristoylation is a lipid modification that is involved in regulating the function and localization of signaling proteins. The encoded protein catalyzes the addition of a myristoyl group to the N-terminal glycine residue of many signaling proteins, including the human immunodeficiency virus type 1 (HIV-1) proteins, Gag and Nef. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a conditional allele knocked out in T cells exhibit reduced T cell, double positive T cell and single positive T cell numbers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 T C 8: 10,038,240 (GRCm39) L279P probably damaging Het
Aldh16a1 C G 7: 44,795,695 (GRCm39) V373L probably benign Het
Btn2a2 T C 13: 23,665,999 (GRCm39) K278E probably benign Het
Carns1 G T 19: 4,216,515 (GRCm39) Q556K probably benign Het
Chd1 A T 17: 15,958,898 (GRCm39) E650V probably damaging Het
Cobl A G 11: 12,203,118 (GRCm39) S1195P probably damaging Het
Deup1 T C 9: 15,472,638 (GRCm39) H464R probably damaging Het
Eva1a T C 6: 82,068,847 (GRCm39) L58S probably damaging Het
Fign A C 2: 63,809,989 (GRCm39) M427R probably benign Het
Gm6309 A T 5: 146,107,085 (GRCm39) I87N probably damaging Het
H2ac7 A G 13: 23,759,027 (GRCm39) K128R probably benign Het
Helz A G 11: 107,486,010 (GRCm39) T140A probably benign Het
Helz2 C T 2: 180,875,260 (GRCm39) E1745K probably damaging Het
Kif16b A T 2: 142,541,618 (GRCm39) H1227Q possibly damaging Het
Mab21l1 A T 3: 55,690,505 (GRCm39) I31F possibly damaging Het
Mex3c T C 18: 73,723,065 (GRCm39) M386T probably benign Het
Myh11 T A 16: 14,022,994 (GRCm39) I1644F possibly damaging Het
Nav2 C T 7: 49,102,923 (GRCm39) P513S probably damaging Het
Ncoa3 C T 2: 165,901,267 (GRCm39) S953F possibly damaging Het
Nrxn2 T C 19: 6,559,860 (GRCm39) I163T probably damaging Het
Nrxn3 G C 12: 89,943,237 (GRCm39) G122R probably damaging Het
Or1e26 A G 11: 73,479,724 (GRCm39) V280A probably benign Het
Or5d20-ps1 T C 2: 87,932,189 (GRCm39) I47M possibly damaging Het
Parg T G 14: 31,931,454 (GRCm39) probably null Het
Pcdhb7 T A 18: 37,475,264 (GRCm39) C133* probably null Het
Ppihl A G 5: 44,070,893 (GRCm39) T127A probably damaging Het
Rigi A G 4: 40,216,487 (GRCm39) Y504H possibly damaging Het
Rpe T C 1: 66,755,139 (GRCm39) F174L probably benign Het
Rxrb A G 17: 34,252,533 (GRCm39) N40S probably benign Het
Ryr3 C A 2: 112,486,889 (GRCm39) G3840W probably damaging Het
Smurf2 A G 11: 106,724,595 (GRCm39) L529P probably damaging Het
Sntg2 C T 12: 30,308,040 (GRCm39) R215H probably benign Het
Spata20 A G 11: 94,374,226 (GRCm39) V348A probably benign Het
Spink5 A G 18: 44,123,739 (GRCm39) E342G probably damaging Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Syce1l T A 8: 114,376,143 (GRCm39) M31K probably benign Het
Ttn C T 2: 76,618,960 (GRCm39) V14394I probably damaging Het
Twnk G A 19: 44,997,820 (GRCm39) V450M probably damaging Het
Vangl1 T C 3: 102,065,764 (GRCm39) K407R probably benign Het
Vmn1r19 T C 6: 57,382,317 (GRCm39) I290T unknown Het
Other mutations in Nmt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00783:Nmt2 APN 2 3,315,846 (GRCm39) missense probably damaging 1.00
IGL00784:Nmt2 APN 2 3,315,846 (GRCm39) missense probably damaging 1.00
IGL01871:Nmt2 APN 2 3,313,711 (GRCm39) missense probably damaging 1.00
IGL02617:Nmt2 APN 2 3,315,750 (GRCm39) missense probably benign 0.15
Faul UTSW 2 3,306,341 (GRCm39) splice site probably null
ANU05:Nmt2 UTSW 2 3,315,731 (GRCm39) missense probably benign
R0278:Nmt2 UTSW 2 3,326,424 (GRCm39) missense probably benign 0.00
R0524:Nmt2 UTSW 2 3,306,474 (GRCm39) missense probably benign
R0743:Nmt2 UTSW 2 3,315,822 (GRCm39) nonsense probably null
R0884:Nmt2 UTSW 2 3,315,822 (GRCm39) nonsense probably null
R1895:Nmt2 UTSW 2 3,323,672 (GRCm39) missense probably benign 0.11
R1946:Nmt2 UTSW 2 3,323,672 (GRCm39) missense probably benign 0.11
R1957:Nmt2 UTSW 2 3,326,419 (GRCm39) missense possibly damaging 0.95
R2037:Nmt2 UTSW 2 3,310,618 (GRCm39) missense probably damaging 1.00
R2656:Nmt2 UTSW 2 3,308,050 (GRCm39) missense probably benign
R3422:Nmt2 UTSW 2 3,285,425 (GRCm39) missense possibly damaging 0.82
R3835:Nmt2 UTSW 2 3,315,723 (GRCm39) splice site probably benign
R3955:Nmt2 UTSW 2 3,313,535 (GRCm39) missense probably benign 0.00
R4701:Nmt2 UTSW 2 3,323,678 (GRCm39) missense probably benign
R5032:Nmt2 UTSW 2 3,285,429 (GRCm39) missense probably benign
R6396:Nmt2 UTSW 2 3,315,738 (GRCm39) missense probably benign 0.18
R6410:Nmt2 UTSW 2 3,317,215 (GRCm39) missense probably damaging 1.00
R6863:Nmt2 UTSW 2 3,306,341 (GRCm39) splice site probably null
R6865:Nmt2 UTSW 2 3,315,766 (GRCm39) missense probably damaging 1.00
R7100:Nmt2 UTSW 2 3,313,950 (GRCm39) missense probably benign
R7139:Nmt2 UTSW 2 3,285,352 (GRCm39) missense probably benign 0.01
R7516:Nmt2 UTSW 2 3,313,767 (GRCm39) missense probably damaging 1.00
R9098:Nmt2 UTSW 2 3,306,315 (GRCm39) intron probably benign
R9581:Nmt2 UTSW 2 3,317,212 (GRCm39) missense possibly damaging 0.80
X0067:Nmt2 UTSW 2 3,325,998 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AAGGGCTCAAGCTGGGTTAC -3'
(R):5'- ACTGACTAAGCACCATCTTAGAAG -3'

Sequencing Primer
(F):5'- GAGGTCAGTATCAGTTGATCAAATGC -3'
(R):5'- GACTGTATTATAAAGACAGTTGGGG -3'
Posted On 2018-04-27