Incidental Mutation 'IGL02881:Nrn1'
ID362823
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nrn1
Ensembl Gene ENSMUSG00000039114
Gene Nameneuritin 1
Synonymscpg15, 0710008J23Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.361) question?
Stock #IGL02881
Quality Score
Status
Chromosome13
Chromosomal Location36725361-36735131 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 36730106 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037623] [ENSMUST00000122286] [ENSMUST00000223611] [ENSMUST00000224323] [ENSMUST00000224960]
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik C A 8: 13,555,999 probably benign Het
Aatf A G 11: 84,471,289 probably benign Het
Asap3 A T 4: 136,239,237 H542L probably benign Het
Cyp4v3 A T 8: 45,308,716 L389H probably damaging Het
Dnah17 C T 11: 118,042,118 E3605K probably damaging Het
Fry C T 5: 150,359,051 T347M probably damaging Het
Glul C A 1: 153,907,116 T191K probably benign Het
Gm6614 T C 6: 141,972,243 R636G probably benign Het
Grsf1 A T 5: 88,673,830 L125Q probably damaging Het
Hfm1 A G 5: 106,874,252 I976T probably damaging Het
Itgb5 A G 16: 33,919,905 T462A probably benign Het
Lmna G T 3: 88,502,926 R60S possibly damaging Het
Mrpl10 T A 11: 97,047,073 V89D probably damaging Het
Muc5b C T 7: 141,857,712 T1465I unknown Het
Myh15 A C 16: 49,117,265 D743A possibly damaging Het
Noxo1 C A 17: 24,699,435 L190I probably damaging Het
Noxo1 T A 17: 24,699,436 L190Q probably damaging Het
Olfr1025-ps1 A G 2: 85,918,116 S64G probably benign Het
Olfr1098 A G 2: 86,922,713 V273A possibly damaging Het
Olfr1226 T A 2: 89,193,641 Y131F probably damaging Het
Olfr170 A T 16: 19,606,300 Y123N probably damaging Het
Pfkfb4 A G 9: 109,007,296 T131A probably null Het
Phf20l1 T C 15: 66,594,980 probably null Het
Pnliprp2 A G 19: 58,771,446 D363G probably benign Het
Prpf6 C T 2: 181,632,071 T336I probably benign Het
Rcc1 C T 4: 132,337,756 R139H probably benign Het
Sae1 T G 7: 16,359,118 K221N probably damaging Het
Slc45a1 T C 4: 150,638,530 K299R probably benign Het
Smad2 C A 18: 76,299,780 probably null Het
Tmem117 T C 15: 94,879,425 F152S probably damaging Het
Tmem232 C T 17: 65,450,370 C276Y probably damaging Het
Tor1b A T 2: 30,953,853 K47* probably null Het
Ttn A G 2: 76,909,803 V3464A probably benign Het
Ube3b A G 5: 114,412,884 T870A possibly damaging Het
Zscan25 T G 5: 145,290,486 L320R probably benign Het
Other mutations in Nrn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01139:Nrn1 APN 13 36730216 missense probably damaging 1.00
IGL02801:Nrn1 APN 13 36730106 critical splice donor site probably null
IGL02816:Nrn1 APN 13 36730106 critical splice donor site probably null
IGL02838:Nrn1 APN 13 36730106 critical splice donor site probably null
IGL02859:Nrn1 APN 13 36730106 critical splice donor site probably null
IGL02900:Nrn1 APN 13 36730106 critical splice donor site probably null
IGL02927:Nrn1 APN 13 36730106 critical splice donor site probably null
IGL02938:Nrn1 APN 13 36730106 critical splice donor site probably null
IGL02942:Nrn1 APN 13 36730106 critical splice donor site probably null
IGL03144:Nrn1 APN 13 36730106 critical splice donor site probably null
IGL02802:Nrn1 UTSW 13 36730106 critical splice donor site probably null
R0172:Nrn1 UTSW 13 36730570 missense probably benign
R2126:Nrn1 UTSW 13 36730206 missense probably damaging 1.00
R5986:Nrn1 UTSW 13 36734264 nonsense probably null
R7226:Nrn1 UTSW 13 36730603 missense probably benign 0.03
R7426:Nrn1 UTSW 13 36726851 missense probably damaging 1.00
R8224:Nrn1 UTSW 13 36734284 missense probably damaging 0.98
Posted On2015-12-18