Incidental Mutation 'IGL01139:Nrn1'
ID52609
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: 0.295) question?
Stock #IGL01139
Quality Score
Status
Chromosome13
Chromosomal Location36725361-36735131 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36730216 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 31 (C31R)
Ref Sequence ENSEMBL: ENSMUSP00000153173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037623] [ENSMUST00000122286] [ENSMUST00000223611] [ENSMUST00000224323] [ENSMUST00000224960]
Predicted Effect probably damaging
Transcript: ENSMUST00000037623
AA Change: C31R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040900
Gene: ENSMUSG00000039114
AA Change: C31R

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:NRN1 31 120 1e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000122286
AA Change: C47R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113721
Gene: ENSMUSG00000039114
AA Change: C47R

DomainStartEndE-ValueType
Pfam:NRN1 47 133 2.7e-42 PFAM
transmembrane domain 134 156 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000223611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223623
Predicted Effect probably damaging
Transcript: ENSMUST00000224323
AA Change: C40R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000224960
AA Change: C31R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225048
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
Actr3 A T 1: 125,405,885 I215N probably damaging Het
Ambn C T 5: 88,464,517 probably benign Het
Arhgef1 T A 7: 24,925,951 probably benign Het
Arid1a A C 4: 133,693,997 S832R unknown Het
Clca4a A T 3: 144,966,269 I304N probably damaging Het
Dmxl2 G A 9: 54,458,964 P274S probably damaging Het
Eif4enif1 T A 11: 3,221,143 D211E probably damaging Het
Eri2 A G 7: 119,786,737 probably null Het
Fhod3 C T 18: 25,066,344 P691S probably benign Het
Flnb A G 14: 7,945,989 S2465G probably damaging Het
Ftsj1 G A X: 8,246,592 R171C probably damaging Het
Glb1l3 G A 9: 26,818,227 T648I probably benign Het
Gm4222 T A 2: 90,148,545 probably benign Het
Gm438 A T 4: 144,777,689 Y297* probably null Het
Gm5475 G A 15: 100,424,215 probably benign Het
Jaml C A 9: 45,101,019 T268N possibly damaging Het
Kank3 G A 17: 33,817,401 G81E probably damaging Het
Lrba A G 3: 86,642,662 T217A possibly damaging Het
Ltn1 A G 16: 87,416,009 S555P probably benign Het
Map3k15 T A X: 160,072,879 M350K probably damaging Het
Mipol1 C A 12: 57,306,035 Y53* probably null Het
Mn1 A G 5: 111,421,449 D1095G probably damaging Het
Myh14 T C 7: 44,606,292 probably benign Het
Nup210 A T 6: 91,030,097 L579H possibly damaging Het
Nxf2 T C X: 134,950,396 I578V probably benign Het
Obscn G A 11: 59,078,352 A172V probably damaging Het
Olfr1006 T G 2: 85,674,497 Y218S probably damaging Het
Olfr55 T A 17: 33,176,782 Y123N probably damaging Het
Phtf1 A G 3: 104,005,602 D748G probably damaging Het
Psd3 A T 8: 67,908,535 Y863N probably damaging Het
Psmc6 C T 14: 45,343,710 T321I probably benign Het
Rassf6 T C 5: 90,608,966 *31W probably null Het
Rictor A C 15: 6,778,268 K791Q probably damaging Het
Slc12a9 C T 5: 137,322,842 M470I probably damaging Het
Tex28 A T X: 74,151,224 M367K possibly damaging Het
Thnsl2 A T 6: 71,138,734 V163D probably damaging Het
Tmco3 G A 8: 13,319,887 R633Q possibly damaging Het
Trf A T 9: 103,223,604 V224D probably damaging Het
Ttc8 C T 12: 98,964,545 Q273* probably null Het
Usp9x A G X: 13,104,576 probably benign Het
Vmn2r117 A G 17: 23,477,804 W210R probably damaging Het
Vmn2r5 A G 3: 64,491,405 S718P probably benign Het
Vps13a T C 19: 16,640,625 D2932G probably damaging Het
Whamm T C 7: 81,595,914 L706P probably damaging Het
Yeats2 G A 16: 20,214,393 V45I probably damaging Het
Yipf3 G A 17: 46,250,457 probably null Het
Zeb1 T C 18: 5,705,061 V26A possibly damaging Het
Other mutations in Nrn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02881: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
Posted On2013-06-21