Incidental Mutation 'IGL01647:Rtn4r'
ID 102696
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rtn4r
Ensembl Gene ENSMUSG00000043811
Gene Name reticulon 4 receptor
Synonyms NgR1, Nogo-66 receptor, NgR
Accession Numbers
Essential gene? Possibly essential (E-score: 0.618) question?
Stock # IGL01647
Quality Score
Status
Chromosome 16
Chromosomal Location 17945506-17970272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 17969190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 206 (R206L)
Ref Sequence ENSEMBL: ENSMUSP00000062924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059589]
AlphaFold Q99PI8
Predicted Effect probably damaging
Transcript: ENSMUST00000059589
AA Change: R206L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000062924
Gene: ENSMUSG00000043811
AA Change: R206L

DomainStartEndE-ValueType
LRRNT 26 61 2.32e0 SMART
LRR 60 79 8.49e1 SMART
LRR 80 103 8.01e0 SMART
LRR 104 128 1.22e1 SMART
LRR_TYP 129 152 4.11e-2 SMART
LRR_TYP 153 176 8.6e-5 SMART
LRR_TYP 177 200 5.67e-5 SMART
LRR 201 224 6.13e-1 SMART
LRR 225 248 6.4e0 SMART
LRRCT 260 310 1.65e-2 SMART
low complexity region 405 418 N/A INTRINSIC
low complexity region 446 464 N/A INTRINSIC
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 the receptor for reticulon 4, oligodendrocyte myelin glycoprotein and myelin-associated glycoprotein. This receptor mediates axonal growth inhibition and may play a role in regulating axonal regeneration and plasticity in the adult central nervous system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display decreased exploration in new environment, impaired coordination, and improved recovery and rubrospinal axon regeneration following spinal cord injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T A 2: 35,266,097 (GRCm39) D191V probably damaging Het
Adcy6 T C 15: 98,498,156 (GRCm39) D382G probably damaging Het
Arhgef33 A T 17: 80,672,695 (GRCm39) probably benign Het
Armc10 A G 5: 21,851,091 (GRCm39) probably benign Het
Bcas1 T A 2: 170,191,172 (GRCm39) Q586L probably damaging Het
Bltp3b T C 10: 89,609,982 (GRCm39) probably null Het
Ccdc88a A C 11: 29,454,321 (GRCm39) probably benign Het
Cep250 T A 2: 155,825,296 (GRCm39) C1057S probably benign Het
Ctsm A T 13: 61,688,087 (GRCm39) M14K probably benign Het
Dpy19l1 C T 9: 24,396,365 (GRCm39) R117Q probably damaging Het
Frem1 A G 4: 82,868,593 (GRCm39) Y1463H possibly damaging Het
Garin3 G T 11: 46,296,224 (GRCm39) E199* probably null Het
Gck A T 11: 5,854,472 (GRCm39) M251K probably damaging Het
Gzf1 C T 2: 148,525,570 (GRCm39) P14S probably damaging Het
Iws1 A T 18: 32,230,275 (GRCm39) K748* probably null Het
Kif15 T A 9: 122,792,536 (GRCm39) probably benign Het
Ly6g6f A G 17: 35,299,817 (GRCm39) probably benign Het
Mrps30 C T 13: 118,517,146 (GRCm39) G358R probably damaging Het
Nfrkb T A 9: 31,307,801 (GRCm39) probably benign Het
Or5m3b C T 2: 85,872,441 (GRCm39) P261S probably damaging Het
Pakap A T 4: 57,688,477 (GRCm39) I107F possibly damaging Het
Pcnt T A 10: 76,205,835 (GRCm39) K2506* probably null Het
Pgc G T 17: 48,043,329 (GRCm39) G226W probably damaging Het
Pip5k1a C T 3: 94,981,383 (GRCm39) V82M probably damaging Het
Plk3 A G 4: 116,987,554 (GRCm39) V466A probably damaging Het
Prss44 C A 9: 110,643,745 (GRCm39) Q130K probably damaging Het
Rbck1 T C 2: 152,165,152 (GRCm39) Y66C probably damaging Het
Rbm6 T C 9: 107,730,081 (GRCm39) E189G probably benign Het
Ryr2 C T 13: 11,600,366 (GRCm39) G4613E probably damaging Het
Sema5a T G 15: 32,417,587 (GRCm39) L19R possibly damaging Het
Slc30a5 T C 13: 100,957,653 (GRCm39) T139A possibly damaging Het
Slco2a1 T G 9: 102,947,495 (GRCm39) S265A possibly damaging Het
Smad4 A G 18: 73,773,544 (GRCm39) probably benign Het
St13 C T 15: 81,255,708 (GRCm39) R240Q probably damaging Het
Tcea3 A C 4: 136,002,087 (GRCm39) probably benign Het
Vmn1r177 T C 7: 23,565,600 (GRCm39) Y92C probably damaging Het
Wnt8b A T 19: 44,499,704 (GRCm39) D151V probably damaging Het
Zfp426 T A 9: 20,389,453 (GRCm39) M1L possibly damaging Het
Other mutations in Rtn4r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01358:Rtn4r APN 16 17,969,260 (GRCm39) missense possibly damaging 0.68
IGL01999:Rtn4r APN 16 17,969,321 (GRCm39) missense possibly damaging 0.88
IGL02738:Rtn4r APN 16 17,969,052 (GRCm39) missense probably damaging 1.00
R2064:Rtn4r UTSW 16 17,969,121 (GRCm39) missense probably damaging 1.00
R4709:Rtn4r UTSW 16 17,969,046 (GRCm39) missense probably damaging 1.00
R5465:Rtn4r UTSW 16 17,969,291 (GRCm39) missense probably benign 0.00
R6155:Rtn4r UTSW 16 17,969,258 (GRCm39) missense probably benign 0.02
R6267:Rtn4r UTSW 16 17,969,046 (GRCm39) missense probably damaging 1.00
R6703:Rtn4r UTSW 16 17,969,055 (GRCm39) missense probably damaging 0.99
R7769:Rtn4r UTSW 16 17,969,153 (GRCm39) missense probably benign 0.12
R7816:Rtn4r UTSW 16 17,969,399 (GRCm39) missense probably benign 0.00
R7904:Rtn4r UTSW 16 17,969,349 (GRCm39) missense probably benign 0.00
R8240:Rtn4r UTSW 16 17,969,258 (GRCm39) missense probably benign 0.02
R9094:Rtn4r UTSW 16 17,969,708 (GRCm39) missense possibly damaging 0.89
R9099:Rtn4r UTSW 16 17,969,068 (GRCm39) missense probably benign 0.27
Z1177:Rtn4r UTSW 16 17,969,684 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21