Incidental Mutation 'IGL02481:Nnat'
ID 295231
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nnat
Ensembl Gene ENSMUSG00000067786
Gene Name neuronatin
Synonyms Peg5, 5730414I02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02481
Quality Score
Status
Chromosome 2
Chromosomal Location 157401998-157404442 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 157403167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 36 (F36S)
Ref Sequence ENSEMBL: ENSMUSP00000105152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088484] [ENSMUST00000088494] [ENSMUST00000109526] [ENSMUST00000109528] [ENSMUST00000173595] [ENSMUST00000173041] [ENSMUST00000173839] [ENSMUST00000173793] [ENSMUST00000172487] [ENSMUST00000153739] [ENSMUST00000173378]
AlphaFold Q61979
Predicted Effect probably benign
Transcript: ENSMUST00000088484
SMART Domains Protein: ENSMUSP00000085836
Gene: ENSMUSG00000067786

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
low complexity region 71 80 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000088494
SMART Domains Protein: ENSMUSP00000085849
Gene: ENSMUSG00000067787

DomainStartEndE-ValueType
Pfam:BC10 1 65 2.7e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104797
Predicted Effect possibly damaging
Transcript: ENSMUST00000109526
AA Change: F36S

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105152
Gene: ENSMUSG00000067786
AA Change: F36S

DomainStartEndE-ValueType
low complexity region 2 9 N/A INTRINSIC
transmembrane domain 13 35 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109528
SMART Domains Protein: ENSMUSP00000105154
Gene: ENSMUSG00000067787

DomainStartEndE-ValueType
Pfam:BC10 1 65 2.7e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131902
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134239
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152605
Predicted Effect probably benign
Transcript: ENSMUST00000173595
AA Change: F36S

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000133397
Gene: ENSMUSG00000067786
AA Change: F36S

DomainStartEndE-ValueType
low complexity region 2 9 N/A INTRINSIC
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 67 76 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000173041
SMART Domains Protein: ENSMUSP00000134109
Gene: ENSMUSG00000067786

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173839
SMART Domains Protein: ENSMUSP00000133394
Gene: ENSMUSG00000067786

DomainStartEndE-ValueType
low complexity region 2 9 N/A INTRINSIC
transmembrane domain 13 35 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000173793
SMART Domains Protein: ENSMUSP00000133487
Gene: ENSMUSG00000067786

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172487
SMART Domains Protein: ENSMUSP00000134415
Gene: ENSMUSG00000067786

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
low complexity region 56 73 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000153739
SMART Domains Protein: ENSMUSP00000129821
Gene: ENSMUSG00000067786

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173378
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a proteolipid that may be involved in the regulation of ion channels during brain development. The encoded protein may also play a role in forming and maintaining the structure of the nervous system. This gene is found within an intron of another gene, bladder cancer associated protein, but on the opposite strand. This gene is imprinted and is expressed only from the paternal allele. [provided by RefSeq, Apr 2016]
PHENOTYPE: Homozygous mice for a targeted mutation do not exhibit a detected mutant phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1b8 G A 6: 34,340,729 (GRCm39) A209T probably damaging Het
Ccdc90b G A 7: 92,223,854 (GRCm39) V117I probably benign Het
Cdkl2 A T 5: 92,185,130 (GRCm39) I87N probably damaging Het
Cfap57 T A 4: 118,438,302 (GRCm39) E863V probably damaging Het
Clca3a2 G A 3: 144,790,701 (GRCm39) S457L possibly damaging Het
Crim1 C T 17: 78,658,227 (GRCm39) T702I probably damaging Het
Cysltr1 C A X: 105,621,728 (GRCm39) V253L probably damaging Het
Dgcr6 G A 16: 17,883,038 (GRCm39) A6T possibly damaging Het
Dis3l T C 9: 64,226,362 (GRCm39) probably null Het
Dnm3 A G 1: 161,838,471 (GRCm39) S826P probably damaging Het
Dspp A G 5: 104,323,514 (GRCm39) N219S possibly damaging Het
Dzip3 T C 16: 48,795,914 (GRCm39) probably benign Het
Erc2 T A 14: 27,375,028 (GRCm39) L82Q probably damaging Het
Ercc6l T C X: 101,188,275 (GRCm39) T745A probably benign Het
Gata4 T C 14: 63,437,910 (GRCm39) T414A probably benign Het
Gmps A G 3: 63,921,773 (GRCm39) D592G probably damaging Het
Grin3a A G 4: 49,702,868 (GRCm39) Y873H probably damaging Het
Gsr T C 8: 34,175,569 (GRCm39) probably benign Het
Gtf2h1 T C 7: 46,454,417 (GRCm39) L133P probably damaging Het
Ifna5 A C 4: 88,754,327 (GRCm39) E189A probably benign Het
Irx5 A G 8: 93,087,307 (GRCm39) Y413C probably damaging Het
Kcnk3 A G 5: 30,779,727 (GRCm39) E259G probably damaging Het
Kcnt2 T C 1: 140,282,299 (GRCm39) probably benign Het
Kif19a A G 11: 114,679,979 (GRCm39) E772G probably benign Het
Klhdc7a T A 4: 139,693,121 (GRCm39) T609S probably benign Het
Krt78 C A 15: 101,856,853 (GRCm39) probably benign Het
Lca5 A T 9: 83,305,170 (GRCm39) I212N probably damaging Het
Lgr6 T C 1: 134,929,429 (GRCm39) probably benign Het
Madd T G 2: 91,008,381 (GRCm39) T174P probably damaging Het
Mcm9 A G 10: 53,502,033 (GRCm39) I184T probably damaging Het
Mlycd G A 8: 120,137,073 (GRCm39) R431H probably damaging Het
Myh10 G A 11: 68,692,994 (GRCm39) A1393T probably benign Het
Myof G T 19: 37,926,361 (GRCm39) Y1144* probably null Het
Nbeal2 G A 9: 110,455,063 (GRCm39) Q2578* probably null Het
Nlrp4f T A 13: 65,342,548 (GRCm39) T366S probably benign Het
Nsd3 C A 8: 26,181,143 (GRCm39) P915T probably damaging Het
Or10ak12 C T 4: 118,666,696 (GRCm39) V122M probably benign Het
Or10k2 A C 8: 84,268,015 (GRCm39) M81L possibly damaging Het
Or1n1 A T 2: 36,749,830 (GRCm39) C177S probably damaging Het
Or2g25 A G 17: 37,970,363 (GRCm39) L287P probably damaging Het
Or4l1 G A 14: 50,166,164 (GRCm39) T279I probably damaging Het
Pkd1l3 A G 8: 110,341,414 (GRCm39) N89S unknown Het
Pkd2 T C 5: 104,634,636 (GRCm39) F556L probably damaging Het
Psen2 T A 1: 180,062,626 (GRCm39) M239L probably damaging Het
Rad50 A G 11: 53,570,876 (GRCm39) I794T probably benign Het
Ralgps1 G A 2: 33,230,741 (GRCm39) T14I probably benign Het
Rnpepl1 C T 1: 92,843,629 (GRCm39) P250S probably damaging Het
Skic8 T C 9: 54,635,545 (GRCm39) I19V probably damaging Het
Slc47a2 A G 11: 61,227,067 (GRCm39) V167A possibly damaging Het
Tmem161b T A 13: 84,432,112 (GRCm39) V41D probably damaging Het
Vmn2r88 A T 14: 51,651,611 (GRCm39) E308D probably benign Het
Zfhx4 G A 3: 5,476,903 (GRCm39) E3148K probably damaging Het
Other mutations in Nnat
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0045:Nnat UTSW 2 157,402,408 (GRCm39) intron probably benign
R4885:Nnat UTSW 2 157,403,678 (GRCm39) missense probably damaging 0.97
R5444:Nnat UTSW 2 157,403,137 (GRCm39) missense possibly damaging 0.77
R9603:Nnat UTSW 2 157,403,701 (GRCm39) makesense probably null
Posted On 2015-04-16