Incidental Mutation 'IGL02802:Nrn1'
ID 392107
Institutional Source Beutler Lab
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 # IGL02802 (G1)
Quality Score 138
Status Validated
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
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 100% (63/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 A C 1: 130,671,130 (GRCm39) T451P probably benign Het
Actbl2 A G 13: 111,392,310 (GRCm39) E215G probably damaging Het
Adh6b A G 3: 138,058,545 (GRCm39) T198A possibly damaging Het
Bicd2 A G 13: 49,531,804 (GRCm39) K349E probably damaging Het
Bsnd T A 4: 106,349,231 (GRCm39) D3V probably damaging Het
Cd83 T A 13: 43,953,147 (GRCm39) L142Q probably null Het
Cdh20 A G 1: 110,065,655 (GRCm39) E643G probably damaging Het
Ces1b T G 8: 93,783,594 (GRCm39) E542A possibly damaging Het
Cfhr2 A G 1: 139,738,762 (GRCm39) probably benign Het
Clip1 T C 5: 123,769,186 (GRCm39) D471G probably damaging Het
Cntn5 C A 9: 10,048,683 (GRCm39) probably null Het
Cntnap2 A T 6: 46,147,179 (GRCm39) D475V probably damaging Het
Cntnap5c T C 17: 58,612,679 (GRCm39) F906S probably benign Het
Cobll1 A T 2: 64,928,663 (GRCm39) S888T probably damaging Het
Csf2rb G A 15: 78,223,103 (GRCm39) R105Q probably benign Het
Ctnnd1 C A 2: 84,454,806 (GRCm39) M1I probably null Het
Cxxc1 C T 18: 74,352,481 (GRCm39) Q354* probably null Het
Dnhd1 A G 7: 105,304,930 (GRCm39) D324G possibly damaging Het
Donson T C 16: 91,478,196 (GRCm39) D435G possibly damaging Het
Ephb1 T C 9: 101,887,218 (GRCm39) K474E possibly damaging Het
Erbin A G 13: 104,004,638 (GRCm39) L130P probably damaging Het
Fam221a C T 6: 49,355,411 (GRCm39) T171I probably damaging Het
Farp2 A G 1: 93,456,332 (GRCm39) E5G probably damaging Het
Fblim1 A G 4: 141,317,431 (GRCm39) S85P possibly damaging Het
Fhl2 A T 1: 43,162,761 (GRCm39) C251* probably null Het
Glis2 T C 16: 4,429,735 (GRCm39) probably null Het
Gm10715 A C 9: 3,038,062 (GRCm39) probably benign Het
Gm10717 C T 9: 3,031,999 (GRCm39) P127S probably benign Het
Heatr6 T C 11: 83,651,762 (GRCm39) L246P probably damaging Het
Igkv5-39 G A 6: 69,877,457 (GRCm39) P100S probably benign Het
Jup T C 11: 100,269,204 (GRCm39) D403G probably benign Het
Kank1 T C 19: 25,388,963 (GRCm39) Y879H probably damaging Het
Kcna3 G A 3: 106,944,369 (GRCm39) E211K probably damaging Het
Klc3 A T 7: 19,129,049 (GRCm39) I440N possibly damaging Het
Mmp1b T C 9: 7,384,709 (GRCm39) T280A probably benign Het
Nat3 A T 8: 68,000,160 (GRCm39) Q13L probably benign Het
Nckap1l A G 15: 103,372,963 (GRCm39) N272S probably benign Het
Nsd3 T C 8: 26,130,922 (GRCm39) S96P probably damaging Het
Ntaq1 A G 15: 58,011,833 (GRCm39) S65G probably benign Het
Nudt16l1 C T 16: 4,757,131 (GRCm39) R43C probably damaging Het
Obscn T A 11: 58,891,310 (GRCm39) Q7074L unknown Het
Or4p20 A G 2: 88,253,832 (GRCm39) V179A probably benign Het
Or5m12 A G 2: 85,734,733 (GRCm39) S222P probably damaging Het
Or5p78 A T 7: 108,211,669 (GRCm39) I52F probably damaging Het
Or6c206 T A 10: 129,097,136 (GRCm39) probably null Het
Or8b37 T G 9: 37,959,345 (GRCm39) Y276D probably damaging Het
Or8k30 T A 2: 86,339,290 (GRCm39) N162K probably benign Het
P4htm C T 9: 108,460,055 (GRCm39) D240N probably benign Het
Plekhm2 A T 4: 141,369,835 (GRCm39) probably benign Het
Plppr5 T C 3: 117,456,228 (GRCm39) S250P probably damaging Het
Pmis2 T C 7: 30,370,919 (GRCm39) K12E probably benign Het
Ppox A T 1: 171,105,066 (GRCm39) L374* probably null Het
Rcc1 C T 4: 132,065,067 (GRCm39) R139H probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Tdo2 A G 3: 81,883,004 (GRCm39) probably benign Het
Tent2 A T 13: 93,285,449 (GRCm39) N436K probably damaging Het
Thbs2 A G 17: 14,904,389 (GRCm39) I326T probably benign Het
Thrap3 T C 4: 126,059,157 (GRCm39) probably benign Het
Ttc6 A T 12: 57,622,654 (GRCm39) M18L probably benign Het
Ttn C T 2: 76,604,924 (GRCm39) V18337I probably damaging Het
Txndc2 A G 17: 65,946,601 (GRCm39) S34P possibly damaging Het
Vps72 T A 3: 95,026,545 (GRCm39) C163* probably null Het
Zfp831 T A 2: 174,486,945 (GRCm39) I540N possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- GCAGACTTTAAACCAGGGAAC -3'
(R):5'- GTGATGCTTACTGGTGTCCCTC -3'

Sequencing Primer
(F):5'- CCTGAGGGCAGCCTTGG -3'
(R):5'- CCTCCCCACAGCTTACCTGG -3'
Posted On 2016-06-09