Incidental Mutation 'IGL02816:Nrn1'
ID 360814
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 # IGL02816
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Caskin1 C A 17: 24,721,144 (GRCm39) P495T probably benign Het
Clcn4 A G 7: 7,298,087 (GRCm39) C41R probably damaging Het
Etfdh G A 3: 79,530,112 (GRCm39) T52M probably damaging Het
Fam227a T C 15: 79,510,497 (GRCm39) T386A possibly damaging Het
Gabrr3 T C 16: 59,260,830 (GRCm39) probably benign Het
Krt25 G T 11: 99,208,977 (GRCm39) D284E probably benign Het
Map1b T C 13: 99,578,263 (GRCm39) D130G probably damaging Het
Nlrp3 T A 11: 59,446,608 (GRCm39) F785I probably benign Het
Numa1 T A 7: 101,645,307 (GRCm39) I311N probably damaging Het
Pkd1 T C 17: 24,813,489 (GRCm39) C4010R probably benign Het
Prph A G 15: 98,955,301 (GRCm39) M423V probably damaging Het
Rb1cc1 T A 1: 6,333,052 (GRCm39) probably benign Het
Ribc2 T G 15: 85,017,106 (GRCm39) V48G probably damaging Het
Scyl1 A T 19: 5,820,410 (GRCm39) N141K probably damaging Het
Sec23a T A 12: 59,025,331 (GRCm39) M497L probably benign Het
Strada C T 11: 106,055,251 (GRCm39) probably benign Het
Tas2r144 A T 6: 42,192,539 (GRCm39) Y93F probably benign Het
Tmem94 T A 11: 115,679,530 (GRCm39) probably null Het
Trpc3 A G 3: 36,705,851 (GRCm39) F448S probably damaging Het
Ttc13 A G 8: 125,439,415 (GRCm39) I113T possibly damaging Het
Ttc27 T A 17: 75,054,769 (GRCm39) probably benign Het
Ttll13 G T 7: 79,902,842 (GRCm39) C170F possibly damaging Het
Yes1 C T 5: 32,802,451 (GRCm39) T122M probably damaging Het
Other mutations in Nrn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01139:Nrn1 APN 13 36,914,190 (GRCm39) missense probably damaging 1.00
IGL02801: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