Incidental Mutation 'IGL01999:Rtn4r'
ID 182132
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: 0.638) question?
Stock # IGL01999
Quality Score
Status
Chromosome 16
Chromosomal Location 17945506-17970272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17969321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 250 (R250G)
Ref Sequence ENSEMBL: ENSMUSP00000062924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059589]
AlphaFold Q99PI8
Predicted Effect possibly damaging
Transcript: ENSMUST00000059589
AA Change: R250G

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000062924
Gene: ENSMUSG00000043811
AA Change: R250G

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cabs1 C T 5: 88,127,787 (GRCm39) T146I possibly damaging Het
Cfap161 C T 7: 83,440,899 (GRCm39) V118M probably damaging Het
Cfap95 C A 19: 23,569,529 (GRCm39) L130F possibly damaging Het
Chrna7 T C 7: 62,753,539 (GRCm39) M327V probably damaging Het
Ddx18 A G 1: 121,489,457 (GRCm39) I228T probably benign Het
Dnhd1 T A 7: 105,370,422 (GRCm39) S4616T possibly damaging Het
Dsp T A 13: 38,365,162 (GRCm39) M515K probably damaging Het
Dysf C T 6: 84,090,600 (GRCm39) P1002L probably damaging Het
Exoc7 T C 11: 116,191,926 (GRCm39) probably null Het
Gria2 G A 3: 80,639,398 (GRCm39) R205W probably damaging Het
Hacd2 T C 16: 34,869,083 (GRCm39) probably benign Het
Helz G T 11: 107,493,754 (GRCm39) probably benign Het
Hgfac A G 5: 35,202,155 (GRCm39) N352S probably benign Het
Mfsd11 T A 11: 116,752,411 (GRCm39) F135I probably damaging Het
Mtmr10 A G 7: 63,987,460 (GRCm39) N667D probably benign Het
Mtmr9 A C 14: 63,779,903 (GRCm39) F62C probably damaging Het
Nelfcd T C 2: 174,265,308 (GRCm39) probably benign Het
Nfasc A G 1: 132,532,985 (GRCm39) probably benign Het
Npnt C T 3: 132,614,160 (GRCm39) R150Q probably damaging Het
Or5b108 G A 19: 13,168,924 (GRCm39) A298T probably damaging Het
Or5p55 C T 7: 107,566,675 (GRCm39) R24C probably benign Het
Or6b13 C T 7: 139,782,345 (GRCm39) E113K probably damaging Het
Pcdhb2 C T 18: 37,429,890 (GRCm39) A621V probably damaging Het
Pkd1l1 C A 11: 8,786,291 (GRCm39) W1921L probably benign Het
Plcb1 G A 2: 135,188,238 (GRCm39) R777Q probably damaging Het
Plch1 G A 3: 63,660,728 (GRCm39) P297L probably damaging Het
Ppp2r2b T C 18: 42,778,788 (GRCm39) probably benign Het
Ppp6r2 A G 15: 89,154,155 (GRCm39) D372G probably benign Het
Sec61a2 A G 2: 5,896,174 (GRCm39) probably benign Het
Sema3g G T 14: 30,939,922 (GRCm39) V19L probably benign Het
Sult2a7 T C 7: 14,225,648 (GRCm39) T113A probably benign Het
Tcp11l1 T C 2: 104,528,914 (GRCm39) D128G possibly damaging Het
Tln2 C T 9: 67,299,787 (GRCm39) R155Q possibly damaging Het
Vcan A G 13: 89,832,557 (GRCm39) L2150P probably damaging Het
Vmn1r40 A C 6: 89,691,948 (GRCm39) N255T probably benign Het
Vmn2r68 T C 7: 84,871,439 (GRCm39) N615D probably damaging Het
Zdhhc25 A G 15: 88,485,217 (GRCm39) E184G probably damaging Het
Other mutations in Rtn4r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01358:Rtn4r APN 16 17,969,260 (GRCm39) missense possibly damaging 0.68
IGL01647:Rtn4r APN 16 17,969,190 (GRCm39) missense probably damaging 0.99
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 2014-05-07