Incidental Mutation 'R7025:Nab2'
ID 545917
Institutional Source Beutler Lab
Gene Symbol Nab2
Ensembl Gene ENSMUSG00000025402
Gene Name Ngfi-A binding protein 2
Synonyms
MMRRC Submission 045126-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7025 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 127496787-127502572 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 127502377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026469] [ENSMUST00000099157] [ENSMUST00000118728] [ENSMUST00000128780] [ENSMUST00000129252]
AlphaFold Q61127
Predicted Effect probably benign
Transcript: ENSMUST00000026469
SMART Domains Protein: ENSMUSP00000026469
Gene: ENSMUSG00000025402

DomainStartEndE-ValueType
Pfam:NCD1 36 114 1.2e-44 PFAM
Pfam:NCD2 230 364 3.2e-59 PFAM
low complexity region 393 406 N/A INTRINSIC
low complexity region 431 446 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099157
SMART Domains Protein: ENSMUSP00000096761
Gene: ENSMUSG00000025402

DomainStartEndE-ValueType
Pfam:NCD1 34 115 4.4e-51 PFAM
Pfam:NCD2 199 366 3.6e-74 PFAM
low complexity region 393 406 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118728
SMART Domains Protein: ENSMUSP00000113473
Gene: ENSMUSG00000040195

DomainStartEndE-ValueType
Pfam:DUF2215 100 348 7.2e-105 PFAM
low complexity region 367 377 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128780
SMART Domains Protein: ENSMUSP00000121737
Gene: ENSMUSG00000025402

DomainStartEndE-ValueType
Pfam:NCD1 1 66 3.4e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129252
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family of NGFI-A binding (NAB) proteins, which function in the nucleus to repress transcription induced by some members of the EGR (early growth response) family of transactivators. NAB proteins can homo- or hetero-multimerize with other EGR or NAB proteins through a conserved N-terminal domain, and repress transcription through two partially redundant C-terminal domains. Transcriptional repression by the encoded protein is mediated in part by interactions with the nucleosome remodeling and deactylase (NuRD) complex. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and fertile with normal myelination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd4 T A 11: 102,995,364 (GRCm39) L90M probably damaging Het
Acot7 T C 4: 152,262,646 (GRCm39) S7P unknown Het
Ahcyl2 T C 6: 29,908,420 (GRCm39) Y388H probably damaging Het
Atp1a2 T A 1: 172,112,117 (GRCm39) R593* probably null Het
Bicral T C 17: 47,112,594 (GRCm39) T869A probably benign Het
Brca2 C T 5: 150,463,943 (GRCm39) P1236S probably benign Het
Cacna2d1 C T 5: 16,557,666 (GRCm39) Q699* probably null Het
Ccser2 T C 14: 36,661,964 (GRCm39) N407D probably damaging Het
Cd300lg A G 11: 101,933,900 (GRCm39) Y49C probably damaging Het
Cdh12 C A 15: 21,358,900 (GRCm39) T108K probably damaging Het
Ctnnd1 A T 2: 84,440,950 (GRCm39) I715K possibly damaging Het
Cyp17a1 T A 19: 46,659,419 (GRCm39) D137V probably damaging Het
Dbr1 A G 9: 99,458,036 (GRCm39) T19A probably damaging Het
Dnah3 C T 7: 119,629,233 (GRCm39) A1441T possibly damaging Het
Dpt G A 1: 164,624,508 (GRCm39) D70N probably damaging Het
Elk4 C A 1: 131,947,107 (GRCm39) P366Q probably damaging Het
Eml4 A C 17: 83,732,740 (GRCm39) D131A probably benign Het
Faap24 A G 7: 35,092,296 (GRCm39) I207T possibly damaging Het
Fam219a T C 4: 41,521,925 (GRCm39) S41G probably benign Het
Gask1b T C 3: 79,793,855 (GRCm39) Y108H probably damaging Het
Ifi203 T C 1: 173,755,951 (GRCm39) probably benign Het
Inpp4a T C 1: 37,408,504 (GRCm39) V295A probably benign Het
Kif2a A G 13: 107,119,102 (GRCm39) Y267H probably damaging Het
Kprp T A 3: 92,732,504 (GRCm39) Q182L probably benign Het
Krt90 T C 15: 101,465,610 (GRCm39) K337R possibly damaging Het
Lrp2 T A 2: 69,313,372 (GRCm39) Y2453F possibly damaging Het
Magel2 A C 7: 62,029,535 (GRCm39) Y813S unknown Het
Myh7 C A 14: 55,212,101 (GRCm39) E1548* probably null Het
Myh8 A G 11: 67,188,365 (GRCm39) T1009A probably benign Het
Neb T C 2: 52,186,285 (GRCm39) D929G possibly damaging Het
Nelfb A C 2: 25,100,505 (GRCm39) V155G probably damaging Het
Nmur1 C A 1: 86,315,570 (GRCm39) M65I possibly damaging Het
Nop56 C T 2: 130,119,801 (GRCm39) R81* probably null Het
Npnt C T 3: 132,614,157 (GRCm39) C47Y probably damaging Het
Nrp1 G T 8: 129,207,435 (GRCm39) C610F probably damaging Het
Or4a71 T A 2: 89,357,948 (GRCm39) I269F probably damaging Het
Or5d45 T C 2: 88,153,606 (GRCm39) K148E probably damaging Het
Or6c63-ps1 T A 10: 128,900,544 (GRCm39) M1L probably benign Het
Pax5 G A 4: 44,679,501 (GRCm39) Q93* probably null Het
Pcnt G T 10: 76,239,669 (GRCm39) Q1273K probably damaging Het
Pde4dip G A 3: 97,631,499 (GRCm39) Q1137* probably null Het
Pfas A T 11: 68,881,586 (GRCm39) D959E probably benign Het
Pira13 T A 7: 3,824,261 (GRCm39) K629* probably null Het
Prex1 TCCGACCCC TCCGACCCCGACCCC 2: 166,455,107 (GRCm39) probably benign Het
Prpf40b C T 15: 99,204,281 (GRCm39) Q182* probably null Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Rpe65 A C 3: 159,328,322 (GRCm39) E406A probably damaging Het
Serpina3k A T 12: 104,307,401 (GRCm39) Y211F probably benign Het
Shkbp1 T C 7: 27,054,706 (GRCm39) I65V possibly damaging Het
Slc22a29 G A 19: 8,137,944 (GRCm39) P544S probably benign Het
Stab2 T C 10: 86,686,701 (GRCm39) D2281G probably damaging Het
Tjp2 A G 19: 24,110,052 (GRCm39) M64T probably benign Het
Tnfrsf8 C T 4: 145,000,973 (GRCm39) V378I possibly damaging Het
Trpm1 A T 7: 63,876,462 (GRCm39) probably null Het
Ubqln3 A G 7: 103,790,482 (GRCm39) I536T probably benign Het
Vmn1r44 A G 6: 89,870,736 (GRCm39) T161A possibly damaging Het
Vmn2r108 T A 17: 20,691,345 (GRCm39) I393F possibly damaging Het
Other mutations in Nab2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Nab2 APN 10 127,500,978 (GRCm39) missense probably damaging 1.00
IGL01415:Nab2 APN 10 127,500,972 (GRCm39) missense probably damaging 1.00
IGL02248:Nab2 APN 10 127,499,109 (GRCm39) missense probably benign 0.31
IGL03080:Nab2 APN 10 127,500,663 (GRCm39) missense possibly damaging 0.56
IGL03084:Nab2 APN 10 127,500,346 (GRCm39) missense probably damaging 1.00
katie UTSW 10 127,500,207 (GRCm39) missense probably damaging 1.00
schneider UTSW 10 127,502,417 (GRCm39) intron probably benign
R0381:Nab2 UTSW 10 127,500,936 (GRCm39) missense probably damaging 1.00
R1074:Nab2 UTSW 10 127,499,124 (GRCm39) nonsense probably null
R1535:Nab2 UTSW 10 127,500,916 (GRCm39) missense probably damaging 0.99
R4214:Nab2 UTSW 10 127,500,917 (GRCm39) nonsense probably null
R4742:Nab2 UTSW 10 127,498,696 (GRCm39) missense probably benign 0.02
R5590:Nab2 UTSW 10 127,500,526 (GRCm39) missense probably damaging 0.98
R5603:Nab2 UTSW 10 127,500,990 (GRCm39) start codon destroyed probably null 0.96
R5776:Nab2 UTSW 10 127,500,198 (GRCm39) missense probably damaging 0.99
R6018:Nab2 UTSW 10 127,500,793 (GRCm39) nonsense probably null
R6381:Nab2 UTSW 10 127,500,220 (GRCm39) missense probably damaging 1.00
R6610:Nab2 UTSW 10 127,500,207 (GRCm39) missense probably damaging 1.00
R8220:Nab2 UTSW 10 127,498,645 (GRCm39) missense probably benign 0.03
R8221:Nab2 UTSW 10 127,498,645 (GRCm39) missense probably benign 0.03
R8222:Nab2 UTSW 10 127,498,645 (GRCm39) missense probably benign 0.03
R8223:Nab2 UTSW 10 127,498,645 (GRCm39) missense probably benign 0.03
R8277:Nab2 UTSW 10 127,501,168 (GRCm39) intron probably benign
R8293:Nab2 UTSW 10 127,502,266 (GRCm39) missense possibly damaging 0.86
R8766:Nab2 UTSW 10 127,502,417 (GRCm39) intron probably benign
R9375:Nab2 UTSW 10 127,500,580 (GRCm39) missense probably damaging 1.00
RF005:Nab2 UTSW 10 127,500,233 (GRCm39) missense probably benign 0.04
RF024:Nab2 UTSW 10 127,500,233 (GRCm39) missense probably benign 0.04
Z1176:Nab2 UTSW 10 127,499,001 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTAGACCCCATTCCGGAGTC -3'
(R):5'- TTGTGAAACTGCGCTCTCGG -3'

Sequencing Primer
(F):5'- CCATTCCGGAGTCCAACTC -3'
(R):5'- AACTCAGCGCCCGATTCCTG -3'
Posted On 2019-05-13