Incidental Mutation 'IGL01358:Rtn4r'
ID75590
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rtn4r
Ensembl Gene ENSMUSG00000043811
Gene Namereticulon 4 receptor
SynonymsNgR, Nogo-66 receptor, NgR1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.603) question?
Stock #IGL01358
Quality Score
Status
Chromosome16
Chromosomal Location18127642-18152408 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 18151396 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 229 (M229I)
Ref Sequence ENSEMBL: ENSMUSP00000062924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059589]
Predicted Effect possibly damaging
Transcript: ENSMUST00000059589
AA Change: M229I

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000062924
Gene: ENSMUSG00000043811
AA Change: M229I

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 A G 7: 27,636,154 Y316C probably damaging Het
Atp6v0a4 T G 6: 38,074,210 D411A probably damaging Het
Calr3 A T 8: 72,427,213 Y178* probably null Het
Ces1e A G 8: 93,214,150 L298P probably damaging Het
Clk3 T C 9: 57,754,592 T391A probably damaging Het
Cr2 A G 1: 195,159,820 I275T probably damaging Het
Cul9 G T 17: 46,538,314 P635H probably damaging Het
Dhx33 G A 11: 70,993,861 Q40* probably null Het
Dscam A T 16: 96,610,343 S1778T possibly damaging Het
Dsg2 T A 18: 20,601,793 Y943N probably damaging Het
Eml1 A T 12: 108,514,468 T398S probably benign Het
Epha3 G A 16: 63,595,746 probably benign Het
Gm14548 A G 7: 3,895,687 V254A probably benign Het
Hacl1 A T 14: 31,626,417 M200K probably benign Het
Ighmbp2 T A 19: 3,268,817 S420C probably damaging Het
Kcnt1 T A 2: 25,916,005 I1200N probably damaging Het
Kctd21 T A 7: 97,347,374 L18Q probably damaging Het
Krt78 A C 15: 101,946,263 S1038A probably benign Het
Lrp2 C A 2: 69,552,470 probably benign Het
Lrrc41 T A 4: 116,075,587 V60D probably benign Het
Mafk T C 5: 139,800,493 S149P probably damaging Het
Mest T A 6: 30,746,331 probably benign Het
Nlrp1b G A 11: 71,181,856 T387I possibly damaging Het
Notch3 C T 17: 32,144,747 D1140N probably damaging Het
Nxph2 A G 2: 23,400,074 N146S probably damaging Het
Olfm1 T C 2: 28,229,495 C381R probably damaging Het
Olfr504 T A 7: 108,565,202 R198W probably benign Het
Olfr510 C T 7: 108,667,662 P82L possibly damaging Het
Parp11 C T 6: 127,471,563 Q48* probably null Het
Pgc T C 17: 47,730,666 V175A probably benign Het
Plxna1 G T 6: 89,322,750 T1679N probably damaging Het
Pnpt1 G T 11: 29,138,425 L229F possibly damaging Het
Ppp1r12b A T 1: 134,892,159 L282Q probably damaging Het
Rag2 C A 2: 101,630,020 A225D possibly damaging Het
Ralgps1 T C 2: 33,143,049 D456G possibly damaging Het
Rasgrf2 T A 13: 91,982,630 T170S probably benign Het
Rel C T 11: 23,761,155 S4N probably benign Het
Rims3 C T 4: 120,891,503 S307F possibly damaging Het
Rnf123 A G 9: 108,069,182 L290P probably damaging Het
Rusc2 G A 4: 43,426,116 R1407Q probably damaging Het
Sec23ip A T 7: 128,752,797 Q259L possibly damaging Het
Slc24a4 G A 12: 102,223,635 C204Y probably benign Het
Slc27a3 T C 3: 90,386,552 T542A probably damaging Het
Smarcal1 A T 1: 72,616,565 I668F possibly damaging Het
Snap91 C A 9: 86,806,560 V311F probably damaging Het
Sp8 T A 12: 118,848,970 S187T probably damaging Het
Tcerg1 T C 18: 42,524,277 S275P unknown Het
Vwce T A 19: 10,664,409 V833D possibly damaging Het
Zbtb8b A G 4: 129,433,259 S38P probably damaging Het
Zfp598 T C 17: 24,681,424 probably benign Het
Zkscan4 G A 13: 21,484,305 E309K possibly damaging Het
Other mutations in Rtn4r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01647:Rtn4r APN 16 18151326 missense probably damaging 0.99
IGL01999:Rtn4r APN 16 18151457 missense possibly damaging 0.88
IGL02738:Rtn4r APN 16 18151188 missense probably damaging 1.00
R2064:Rtn4r UTSW 16 18151257 missense probably damaging 1.00
R4709:Rtn4r UTSW 16 18151182 missense probably damaging 1.00
R5465:Rtn4r UTSW 16 18151427 missense probably benign 0.00
R6155:Rtn4r UTSW 16 18151394 missense probably benign 0.02
R6267:Rtn4r UTSW 16 18151182 missense probably damaging 1.00
R6703:Rtn4r UTSW 16 18151191 missense probably damaging 0.99
Posted On2013-10-07