Incidental Mutation 'IGL02927:Nrn1'
ID 363947
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? Probably non essential (E-score: 0.247) question?
Stock # IGL02927
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik G A 17: 48,347,729 (GRCm39) Q192* probably null Het
Actl7b C A 4: 56,740,609 (GRCm39) D250Y probably damaging Het
Akr1a1 T A 4: 116,495,180 (GRCm39) N273I probably damaging Het
Arhgap32 T A 9: 32,172,431 (GRCm39) I1737N possibly damaging Het
Cant1 T C 11: 118,301,888 (GRCm39) D143G probably benign Het
Cast T A 13: 74,885,113 (GRCm39) D295V probably damaging Het
Cdh1 A G 8: 107,395,143 (GRCm39) N851D probably damaging Het
Cntn1 G A 15: 92,189,561 (GRCm39) R628H probably benign Het
Cul4a A G 8: 13,174,861 (GRCm39) D279G possibly damaging Het
Cyp2s1 T C 7: 25,507,577 (GRCm39) K291E probably benign Het
Dhx35 A T 2: 158,662,336 (GRCm39) I205F probably damaging Het
Dpp8 G T 9: 64,967,551 (GRCm39) R518L probably benign Het
Gm9 A G X: 36,474,207 (GRCm39) I34T possibly damaging Het
Hmcn1 A T 1: 150,453,029 (GRCm39) C5429S probably damaging Het
Iqgap2 A C 13: 95,861,184 (GRCm39) L314R possibly damaging Het
Itgav A C 2: 83,625,884 (GRCm39) Y810S probably damaging Het
Kcng4 G T 8: 120,353,061 (GRCm39) P283Q probably benign Het
Lrrn3 T A 12: 41,503,343 (GRCm39) I325F probably damaging Het
Lzts3 A G 2: 130,479,877 (GRCm39) probably benign Het
Marchf7 T C 2: 60,067,262 (GRCm39) I594T probably damaging Het
Matn2 A T 15: 34,355,801 (GRCm39) I269F probably damaging Het
Matn4 A G 2: 164,231,757 (GRCm39) F591S probably damaging Het
Mknk1 C T 4: 115,714,288 (GRCm39) R20C probably damaging Het
Mrgbp T C 2: 180,226,272 (GRCm39) V115A probably damaging Het
Mrgprb8 C T 7: 48,038,373 (GRCm39) Q15* probably null Het
Naa38 T C 11: 69,286,743 (GRCm39) L9P probably damaging Het
Or13a19 T A 7: 139,902,654 (GRCm39) L14Q probably damaging Het
Or2y3 T A 17: 38,393,114 (GRCm39) M252L probably benign Het
Or9i2 G A 19: 13,816,288 (GRCm39) T83I probably benign Het
Pkd1 A G 17: 24,794,163 (GRCm39) N1950S probably damaging Het
Plagl2 A G 2: 153,074,199 (GRCm39) L234P probably damaging Het
Psmb11 C T 14: 54,863,108 (GRCm39) R109W probably damaging Het
Rcc1 C T 4: 132,065,067 (GRCm39) R139H probably benign Het
Rsbn1 A G 3: 103,869,668 (GRCm39) T710A probably benign Het
Shld2 T C 14: 33,989,658 (GRCm39) Y416C probably damaging Het
Slitrk4 A G X: 63,314,933 (GRCm39) I578T possibly damaging Het
Srgap1 T C 10: 121,691,367 (GRCm39) Y289C probably damaging Het
Stxbp2 A G 8: 3,692,685 (GRCm39) D579G possibly damaging Het
Tg T C 15: 66,549,942 (GRCm39) Y235H probably damaging Het
Thbs3 A G 3: 89,127,514 (GRCm39) N385S probably damaging Het
Trmo A G 4: 46,387,602 (GRCm39) S80P probably damaging Het
Ubc T C 5: 125,463,201 (GRCm39) K709E probably benign Het
Vstm4 C T 14: 32,659,745 (GRCm39) P296S probably damaging Het
Wdr11 G A 7: 129,208,822 (GRCm39) probably null Het
Wdr19 T C 5: 65,409,721 (GRCm39) I1153T possibly damaging Het
Xpo6 T C 7: 125,755,901 (GRCm39) E213G possibly damaging Het
Zxdc A C 6: 90,349,544 (GRCm39) T311P 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
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
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