Incidental Mutation 'IGL02801:Nrn1'
ID 360222
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nrn1
Ensembl Gene ENSMUSG00000039114
Gene Name neuritin 1
Synonyms 0710008J23Rik, cpg15
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.317) question?
Stock # IGL02801
Quality Score
Status
Chromosome 13
Chromosomal Location 36909596-36918451 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 36914080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037623] [ENSMUST00000122286] [ENSMUST00000223611] [ENSMUST00000224323] [ENSMUST00000224960]
AlphaFold Q8CFV4
Predicted Effect probably null
Transcript: ENSMUST00000037623
SMART Domains Protein: ENSMUSP00000040900
Gene: ENSMUSG00000039114

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:NRN1 31 120 1e-47 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000122286
SMART Domains Protein: ENSMUSP00000113721
Gene: ENSMUSG00000039114

DomainStartEndE-ValueType
Pfam:NRN1 47 133 2.7e-42 PFAM
transmembrane domain 134 156 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000223611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223623
Predicted Effect probably null
Transcript: ENSMUST00000224323
Predicted Effect probably null
Transcript: ENSMUST00000224960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225048
Meta Mutation Damage Score 0.9484 question?
Coding Region Coverage
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 neuritin family, and is expressed in postmitotic-differentiating neurons of the developmental nervous system and neuronal structures associated with plasticity in the adult. The expression of this gene can be induced by neural activity and neurotrophins. The encoded protein contains a consensus cleavage signal found in glycosylphoshatidylinositol (GPI)-anchored proteins. The encoded protein promotes neurite outgrowth and arborization, suggesting its role in promoting neuritogenesis. Overexpression of the encoded protein may be associated with astrocytoma progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a reduction in body length and body weight, delayed axonal, dendritic, and synaptic development, reduced dendritic spine maintenance leading to gradual spine loss, and impaired associative and spatial learning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap5 A T 12: 76,375,769 (GRCm39) K400N probably benign Het
Aox1 A T 1: 58,393,336 (GRCm39) I1193F probably damaging Het
Arhgef16 A T 4: 154,375,964 (GRCm39) L10Q probably damaging Het
Arl10 T C 13: 54,723,696 (GRCm39) V106A probably benign Het
Bmi1 T C 2: 18,686,692 (GRCm39) Y24H probably damaging Het
Cd163 T A 6: 124,297,488 (GRCm39) I878K probably benign Het
Col12a1 A G 9: 79,515,696 (GRCm39) probably null Het
Csmd2 T C 4: 128,445,868 (GRCm39) probably null Het
Dcp2 G T 18: 44,550,778 (GRCm39) M417I probably damaging Het
Ddx11 T A 17: 66,455,028 (GRCm39) C662S probably benign Het
Dhx29 G A 13: 113,101,180 (GRCm39) C1241Y probably damaging Het
Dnajc6 C T 4: 101,455,010 (GRCm39) P37L probably benign Het
Dqx1 A G 6: 83,037,476 (GRCm39) probably null Het
Dzip1 T A 14: 119,123,067 (GRCm39) K643* probably null Het
Ecel1 A G 1: 87,079,725 (GRCm39) S463P probably damaging Het
Eml5 A G 12: 98,784,104 (GRCm39) V1361A possibly damaging Het
Fads2 C A 19: 10,060,009 (GRCm39) A222S possibly damaging Het
Fancd2 A G 6: 113,570,278 (GRCm39) N1410D probably benign Het
Fbxw16 A G 9: 109,270,144 (GRCm39) F199S possibly damaging Het
Frem2 A G 3: 53,559,596 (GRCm39) V1637A possibly damaging Het
Gabrg2 A G 11: 41,803,220 (GRCm39) S442P probably damaging Het
Gprin3 T C 6: 59,331,966 (GRCm39) T114A possibly damaging Het
Hoxd8 A G 2: 74,536,912 (GRCm39) E27G probably damaging Het
Isl2 A G 9: 55,452,816 (GRCm39) probably null Het
Lamc2 T A 1: 153,012,529 (GRCm39) H715L probably benign Het
Lrif1 T C 3: 106,641,930 (GRCm39) V102A possibly damaging Het
Lrrc39 A G 3: 116,371,995 (GRCm39) N254S possibly damaging Het
Med13l T C 5: 118,883,178 (GRCm39) W1346R probably damaging Het
Melk T C 4: 44,360,930 (GRCm39) I570T probably damaging Het
Mlkl G A 8: 112,043,064 (GRCm39) T361M probably benign Het
Myo1f T A 17: 33,797,111 (GRCm39) M94K probably damaging Het
Naip1 A G 13: 100,580,876 (GRCm39) C124R probably damaging Het
Nek1 G A 8: 61,574,095 (GRCm39) probably null Het
Pde1c G T 6: 56,150,651 (GRCm39) N289K probably damaging Het
Pfas G A 11: 68,879,103 (GRCm39) probably benign Het
Pms2 A T 5: 143,862,653 (GRCm39) I587F probably benign Het
Ppargc1b T C 18: 61,440,755 (GRCm39) E721G possibly damaging Het
Ppp2r1b A G 9: 50,790,127 (GRCm39) I435V probably benign Het
Psip1 C T 4: 83,376,357 (GRCm39) S494N probably benign Het
Ranbp3 T C 17: 57,017,766 (GRCm39) V474A probably benign Het
Rnf220 C T 4: 117,130,448 (GRCm39) C259Y probably damaging Het
Sdr16c6 T C 4: 4,076,603 (GRCm39) I99V probably benign Het
Slc36a1 A T 11: 55,116,879 (GRCm39) I303F probably benign Het
Slc4a1 C T 11: 102,249,972 (GRCm39) probably null Het
Syncrip A T 9: 88,361,862 (GRCm39) D84E probably damaging Het
Tbc1d9b T C 11: 50,043,657 (GRCm39) Y593H probably damaging Het
Tenm2 G T 11: 35,937,857 (GRCm39) Y1605* probably null Het
Tmem135 T A 7: 88,803,333 (GRCm39) H280L probably benign Het
Tmem229a T A 6: 24,955,121 (GRCm39) Q211L probably benign Het
Txlna T C 4: 129,534,201 (GRCm39) D5G probably damaging Het
Vmn2r57 T C 7: 41,098,056 (GRCm39) I4V probably benign Het
Wdfy3 A G 5: 102,055,453 (GRCm39) L1539S probably damaging Het
Zdhhc14 T G 17: 5,777,094 (GRCm39) probably null Het
Other mutations in Nrn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01139:Nrn1 APN 13 36,914,190 (GRCm39) missense probably damaging 1.00
IGL02816:Nrn1 APN 13 36,914,080 (GRCm39) critical splice donor site probably null
IGL02838:Nrn1 APN 13 36,914,080 (GRCm39) critical splice donor site probably null
IGL02859:Nrn1 APN 13 36,914,080 (GRCm39) critical splice donor site probably null
IGL02881:Nrn1 APN 13 36,914,080 (GRCm39) critical splice donor site probably null
IGL02900:Nrn1 APN 13 36,914,080 (GRCm39) critical splice donor site probably null
IGL02927:Nrn1 APN 13 36,914,080 (GRCm39) critical splice donor site probably null
IGL02938:Nrn1 APN 13 36,914,080 (GRCm39) critical splice donor site probably null
IGL02942:Nrn1 APN 13 36,914,080 (GRCm39) critical splice donor site probably null
IGL03144:Nrn1 APN 13 36,914,080 (GRCm39) critical splice donor site probably null
IGL02802:Nrn1 UTSW 13 36,914,080 (GRCm39) critical splice donor site probably null
R0172:Nrn1 UTSW 13 36,914,544 (GRCm39) missense probably benign
R2126:Nrn1 UTSW 13 36,914,180 (GRCm39) missense probably damaging 1.00
R5986:Nrn1 UTSW 13 36,918,238 (GRCm39) nonsense probably null
R7226:Nrn1 UTSW 13 36,914,577 (GRCm39) missense probably benign 0.03
R7426:Nrn1 UTSW 13 36,910,825 (GRCm39) missense probably damaging 1.00
R8224:Nrn1 UTSW 13 36,918,258 (GRCm39) missense probably damaging 0.98
R9294:Nrn1 UTSW 13 36,910,648 (GRCm39) missense probably damaging 0.99
Posted On 2015-12-18