Incidental Mutation 'R8240:Rtn4r'
ID 640928
Institutional Source Beutler Lab
Gene Symbol Rtn4r
Ensembl Gene ENSMUSG00000043811
Gene Name reticulon 4 receptor
Synonyms NgR1, Nogo-66 receptor, NgR
MMRRC Submission 067671-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.638) question?
Stock # R8240 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 17945506-17970272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 17969258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 229 (M229L)
Ref Sequence ENSEMBL: ENSMUSP00000062924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059589]
AlphaFold Q99PI8
Predicted Effect probably benign
Transcript: ENSMUST00000059589
AA Change: M229L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000062924
Gene: ENSMUSG00000043811
AA Change: M229L

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
Meta Mutation Damage Score 0.0745 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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
2610524H06Rik A T 5: 114,961,472 (GRCm39) V12E probably benign Het
Ahnak2 A G 12: 112,741,082 (GRCm39) F997L probably benign Het
Baiap3 A T 17: 25,464,288 (GRCm39) probably null Het
Cct6b A G 11: 82,614,650 (GRCm39) I446T probably damaging Het
Cfap206 A G 4: 34,728,902 (GRCm39) M1T probably null Het
Clca4a T C 3: 144,676,488 (GRCm39) Y64C probably damaging Het
Col24a1 A T 3: 145,213,457 (GRCm39) Q1354L probably benign Het
Coro7 A G 16: 4,486,660 (GRCm39) V171A probably damaging Het
Cyp3a44 G A 5: 145,725,257 (GRCm39) L315F probably damaging Het
Frem1 T A 4: 82,874,485 (GRCm39) D1379V probably benign Het
Gstm6 T A 3: 107,849,453 (GRCm39) D119V probably damaging Het
Hcn1 ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC 13: 118,112,269 (GRCm39) probably benign Het
Hibch T A 1: 52,940,494 (GRCm39) probably null Het
Il1rap G A 16: 26,520,001 (GRCm39) E356K probably benign Het
Itm2c G T 1: 85,822,457 (GRCm39) G25C probably benign Het
Klhl8 C T 5: 104,015,392 (GRCm39) V511I probably damaging Het
Mcee A G 7: 64,061,665 (GRCm39) H156R possibly damaging Het
Myh3 C A 11: 66,983,196 (GRCm39) Q908K probably benign Het
Ncoa7 A G 10: 30,567,725 (GRCm39) S318P probably benign Het
Nhsl1 A G 10: 18,402,487 (GRCm39) N1208D probably benign Het
Or10p21 T A 10: 128,847,766 (GRCm39) I204K possibly damaging Het
Or4a15 C T 2: 89,192,896 (GRCm39) M292I probably benign Het
P2rx7 C T 5: 122,793,096 (GRCm39) P140S probably damaging Het
Plcd4 C G 1: 74,593,660 (GRCm39) H262D probably benign Het
Prps1l1 T C 12: 35,035,140 (GRCm39) V85A probably damaging Het
Prss27 G A 17: 24,263,919 (GRCm39) V202I probably benign Het
Slc43a1 A G 2: 84,690,167 (GRCm39) H491R possibly damaging Het
Slc44a2 A G 9: 21,253,481 (GRCm39) D83G probably benign Het
Spag6l A G 16: 16,580,889 (GRCm39) V486A probably damaging Het
Sspo A T 6: 48,460,436 (GRCm39) Q3408L possibly damaging Het
Tasor2 T C 13: 3,624,388 (GRCm39) D1854G probably benign Het
Tjp3 G A 10: 81,109,641 (GRCm39) T854I probably benign Het
Tmsb10b A C 7: 24,561,805 (GRCm39) I35L probably benign Het
Trim30a C T 7: 104,070,663 (GRCm39) G250D probably benign Het
Ttll1 G T 15: 83,376,783 (GRCm39) D313E probably damaging Het
Zfp160 A T 17: 21,246,350 (GRCm39) N300I probably damaging Het
Zfp458 C T 13: 67,406,190 (GRCm39) C83Y probably damaging Het
Zmym4 A T 4: 126,798,188 (GRCm39) probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- CTGCAGTACCTCTACCTACAAG -3'
(R):5'- GCTTAAGATCACGGTCTGCC -3'

Sequencing Primer
(F):5'- ACTCCCTGACAACACCTTTCGAG -3'
(R):5'- ATCACGGTCTGCCAGGCG -3'
Posted On 2020-07-28