Incidental Mutation 'R4885:Nnat'
ID 375620
Institutional Source Beutler Lab
Gene Symbol Nnat
Ensembl Gene ENSMUSG00000067786
Gene Name neuronatin
Synonyms Peg5, 5730414I02Rik
MMRRC Submission 042851-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4885 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 157401998-157404442 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 157403678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 122 (C122Y)
Ref Sequence ENSEMBL: ENSMUSP00000133397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088484] [ENSMUST00000088494] [ENSMUST00000109526] [ENSMUST00000109528] [ENSMUST00000173595] [ENSMUST00000172487] [ENSMUST00000173378] [ENSMUST00000173839] [ENSMUST00000153739] [ENSMUST00000173041] [ENSMUST00000173793]
AlphaFold Q61979
Predicted Effect possibly damaging
Transcript: ENSMUST00000088484
AA Change: C126Y

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000085836
Gene: ENSMUSG00000067786
AA Change: C126Y

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 probably benign
Transcript: ENSMUST00000109526
SMART Domains Protein: ENSMUSP00000105152
Gene: ENSMUSG00000067786

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: ENSMUST00000134513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152605
Predicted Effect probably damaging
Transcript: ENSMUST00000173595
AA Change: C122Y

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133397
Gene: ENSMUSG00000067786
AA Change: C122Y

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: 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 noncoding transcript
Transcript: ENSMUST00000134239
Predicted Effect probably benign
Transcript: ENSMUST00000173378
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 probably benign
Transcript: ENSMUST00000153739
SMART Domains Protein: ENSMUSP00000129821
Gene: ENSMUSG00000067786

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173041
SMART Domains Protein: ENSMUSP00000134109
Gene: ENSMUSG00000067786

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173793
SMART Domains Protein: ENSMUSP00000133487
Gene: ENSMUSG00000067786

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 99% (77/78)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 A G 16: 20,370,425 (GRCm39) T317A probably benign Het
Adck1 G A 12: 88,407,865 (GRCm39) A199T probably benign Het
Adgrb1 A T 15: 74,444,011 (GRCm39) M1038L probably benign Het
Anapc10 C T 8: 80,455,779 (GRCm39) T76I probably benign Het
Atosa T C 9: 74,913,649 (GRCm39) L94P probably damaging Het
Bptf C T 11: 106,965,474 (GRCm39) S1177N probably benign Het
Bsn A T 9: 107,984,726 (GRCm39) Y337* probably null Het
Ccl20 T A 1: 83,095,580 (GRCm39) V48E possibly damaging Het
Ccnl1 C T 3: 65,864,320 (GRCm39) D122N probably damaging Het
Chat C G 14: 32,176,567 (GRCm39) G69A probably damaging Het
Cr2 T A 1: 194,841,039 (GRCm39) I418F possibly damaging Het
Dmxl1 G C 18: 50,011,862 (GRCm39) A1340P probably damaging Het
Eef2k G A 7: 120,491,155 (GRCm39) R547Q probably benign Het
Eml2 G A 7: 18,937,935 (GRCm39) S793N probably benign Het
Enox1 T A 14: 77,958,290 (GRCm39) L632Q probably damaging Het
Fabp9 T C 3: 10,259,738 (GRCm39) K92E probably damaging Het
Fam234a T C 17: 26,432,559 (GRCm39) H530R probably benign Het
Fancm C T 12: 65,149,417 (GRCm39) Q728* probably null Het
Fgd3 G A 13: 49,417,465 (GRCm39) T666M possibly damaging Het
Foxs1 T C 2: 152,774,301 (GRCm39) M251V probably benign Het
Fsip2 A T 2: 82,818,438 (GRCm39) M4724L probably benign Het
Gemin6 G A 17: 80,535,327 (GRCm39) E96K probably damaging Het
Gfi1 C A 5: 107,871,152 (GRCm39) V80F probably damaging Het
H3c13 G T 3: 96,176,277 (GRCm39) V90F possibly damaging Het
Hectd1 A G 12: 51,847,505 (GRCm39) V442A probably damaging Het
Ift80 A G 3: 68,857,829 (GRCm39) I272T probably damaging Het
Impact C G 18: 13,119,430 (GRCm39) A214G probably damaging Het
Insl6 C T 19: 29,302,556 (GRCm39) E54K probably benign Het
Irak3 T A 10: 120,018,586 (GRCm39) D54V probably damaging Het
Itk C T 11: 46,227,171 (GRCm39) probably null Het
Ivl A T 3: 92,479,718 (GRCm39) C116S probably benign Het
Kcnq4 G A 4: 120,570,260 (GRCm39) A361V probably benign Het
L1td1 C T 4: 98,625,548 (GRCm39) P581L probably benign Het
Lrp1b T C 2: 41,358,905 (GRCm39) E656G probably benign Het
Macrod2 A G 2: 140,261,985 (GRCm39) T89A possibly damaging Het
Mettl13 T C 1: 162,364,837 (GRCm39) D514G probably damaging Het
Mfsd13b A T 7: 120,590,711 (GRCm39) I151F possibly damaging Het
Mical3 G A 6: 120,912,214 (GRCm39) P1882S probably damaging Het
Mycbp2 T C 14: 103,383,382 (GRCm39) E394G possibly damaging Het
Myo16 T A 8: 10,488,892 (GRCm39) S688T probably damaging Het
Neb T C 2: 52,176,058 (GRCm39) Y1467C probably damaging Het
Nhsl3 C T 4: 129,118,238 (GRCm39) R214Q probably damaging Het
Nkx6-3 C A 8: 23,643,914 (GRCm39) P105Q possibly damaging Het
Nlrp1b T C 11: 71,108,710 (GRCm39) T264A possibly damaging Het
Notch3 G A 17: 32,360,351 (GRCm39) R1527C probably damaging Het
Or2y16 C T 11: 49,335,449 (GRCm39) T257I probably damaging Het
Or5an1c T G 19: 12,218,082 (GRCm39) probably null Het
Or5h18 A G 16: 58,847,518 (GRCm39) Y251H probably damaging Het
Pds5b C T 5: 150,639,927 (GRCm39) T14I probably benign Het
Phf19 A T 2: 34,789,718 (GRCm39) I334N probably damaging Het
Pik3ap1 T C 19: 41,364,365 (GRCm39) D118G probably benign Het
Pkhd1 T A 1: 20,140,712 (GRCm39) E3886V possibly damaging Het
Pkp1 A G 1: 135,846,690 (GRCm39) S21P possibly damaging Het
Pramel32 T A 4: 88,546,219 (GRCm39) L374F possibly damaging Het
Rack1 C A 11: 48,696,463 (GRCm39) A290E probably damaging Het
Rbm15 A G 3: 107,239,570 (GRCm39) V276A probably benign Het
Rnf216 A T 5: 143,076,335 (GRCm39) L183* probably null Het
Sc5d T C 9: 42,166,922 (GRCm39) I206V probably benign Het
Scpep1 A G 11: 88,826,737 (GRCm39) I233T probably benign Het
Sh3pxd2a A G 19: 47,257,132 (GRCm39) Y529H probably damaging Het
Slc1a4 A C 11: 20,254,384 (GRCm39) V494G probably damaging Het
Slc38a7 T C 8: 96,575,230 (GRCm39) T17A probably benign Het
Smg6 T C 11: 74,932,744 (GRCm39) S73P probably damaging Het
Stk32b T C 5: 37,624,141 (GRCm39) Y202C probably damaging Het
Tas2r140 A G 6: 40,468,334 (GRCm39) S55G probably damaging Het
Tcf12 C T 9: 71,766,122 (GRCm39) G504S probably null Het
Ttc3 G C 16: 94,227,690 (GRCm39) probably null Het
Ttc3 T C 16: 94,220,324 (GRCm39) I568T probably damaging Het
Ttc41 T G 10: 86,594,966 (GRCm39) N913K possibly damaging Het
Vrk1 G A 12: 106,024,231 (GRCm39) V236M probably damaging Het
Wscd1 C T 11: 71,650,972 (GRCm39) R100C probably damaging Het
Zc3h18 C T 8: 123,128,445 (GRCm39) probably benign Het
Other mutations in Nnat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02481:Nnat APN 2 157,403,167 (GRCm39) missense possibly damaging 0.59
R0045:Nnat UTSW 2 157,402,408 (GRCm39) intron probably benign
R5444:Nnat UTSW 2 157,403,137 (GRCm39) missense possibly damaging 0.77
R9603:Nnat UTSW 2 157,403,701 (GRCm39) makesense probably null
Predicted Primers PCR Primer
(F):5'- ACTTCTCTAAGGGTGGGTCC -3'
(R):5'- GATCAGAATGTGGTGCCTACG -3'

Sequencing Primer
(F):5'- AGGTACTCCCTGCAGAAGCTG -3'
(R):5'- TACGCCCATATCTCGAGGGTTG -3'
Posted On 2016-03-17