Incidental Mutation 'R7832:Rtn4'
ID 605717
Institutional Source Beutler Lab
Gene Symbol Rtn4
Ensembl Gene ENSMUSG00000020458
Gene Name reticulon 4
Synonyms 1110020G17Rik, C130026I10Rik, Nogo-A, NgA, NOGO, Nogo-B
MMRRC Submission 045886-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.763) question?
Stock # R7832 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 29642947-29694331 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 29691048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 1113 (L1113*)
Ref Sequence ENSEMBL: ENSMUSP00000099907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058902] [ENSMUST00000060992] [ENSMUST00000078830] [ENSMUST00000102841] [ENSMUST00000102842] [ENSMUST00000102843] [ENSMUST00000170731]
AlphaFold Q99P72
Predicted Effect probably benign
Transcript: ENSMUST00000058902
SMART Domains Protein: ENSMUSP00000051080
Gene: ENSMUSG00000044072

DomainStartEndE-ValueType
low complexity region 36 47 N/A INTRINSIC
WD40 49 91 1.79e-1 SMART
WD40 94 136 1.42e-4 SMART
WD40 139 178 5.31e-4 SMART
WD40 184 224 8.84e1 SMART
WD40 225 263 3.75e-4 SMART
WD40 313 353 4.69e-5 SMART
WD40 356 394 2.22e0 SMART
WD40 397 436 1.72e0 SMART
WD40 505 546 1.7e2 SMART
WD40 552 592 4.55e-3 SMART
low complexity region 613 625 N/A INTRINSIC
Pfam:HELP 653 715 1.9e-22 PFAM
WD40 716 757 9.24e-1 SMART
WD40 760 802 6.53e-4 SMART
WD40 805 844 2.98e-1 SMART
WD40 856 891 8.52e1 SMART
WD40 892 929 2.09e-2 SMART
WD40 986 1026 1.18e-1 SMART
WD40 1032 1068 3.44e0 SMART
WD40 1071 1111 2.58e-1 SMART
WD40 1180 1221 9.24e-1 SMART
WD40 1227 1267 3.85e-1 SMART
low complexity region 1280 1291 N/A INTRINSIC
Pfam:HELP 1329 1402 5e-15 PFAM
WD40 1404 1447 2.66e0 SMART
WD40 1450 1492 1.85e0 SMART
WD40 1495 1534 2.97e0 SMART
WD40 1543 1582 7.1e1 SMART
WD40 1584 1629 9.51e1 SMART
WD40 1675 1715 3.05e-4 SMART
WD40 1718 1758 8.84e1 SMART
WD40 1759 1798 7.16e-1 SMART
WD40 1869 1910 1.53e1 SMART
WD40 1916 1956 4.62e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000060992
AA Change: L150*
SMART Domains Protein: ENSMUSP00000053754
Gene: ENSMUSG00000020458
AA Change: L150*

DomainStartEndE-ValueType
Pfam:Reticulon 12 182 7.4e-59 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000078830
AA Change: L307*
SMART Domains Protein: ENSMUSP00000077875
Gene: ENSMUSG00000020458
AA Change: L307*

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
low complexity region 31 57 N/A INTRINSIC
low complexity region 60 77 N/A INTRINSIC
low complexity region 85 100 N/A INTRINSIC
low complexity region 109 129 N/A INTRINSIC
low complexity region 134 160 N/A INTRINSIC
Pfam:Reticulon 169 339 4.2e-58 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000102841
AA Change: L997*
SMART Domains Protein: ENSMUSP00000099905
Gene: ENSMUSG00000020458
AA Change: L997*

DomainStartEndE-ValueType
low complexity region 102 110 N/A INTRINSIC
Pfam:Reticulon 859 1029 6.3e-57 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000102842
AA Change: L326*
SMART Domains Protein: ENSMUSP00000099906
Gene: ENSMUSG00000020458
AA Change: L326*

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
low complexity region 31 57 N/A INTRINSIC
low complexity region 60 77 N/A INTRINSIC
low complexity region 85 100 N/A INTRINSIC
low complexity region 109 129 N/A INTRINSIC
low complexity region 134 160 N/A INTRINSIC
Pfam:Reticulon 188 358 4.8e-58 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000102843
AA Change: L1113*
SMART Domains Protein: ENSMUSP00000099907
Gene: ENSMUSG00000020458
AA Change: L1113*

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
low complexity region 31 57 N/A INTRINSIC
low complexity region 60 77 N/A INTRINSIC
low complexity region 85 100 N/A INTRINSIC
low complexity region 109 129 N/A INTRINSIC
low complexity region 134 160 N/A INTRINSIC
low complexity region 218 226 N/A INTRINSIC
Pfam:Reticulon 975 1139 2.4e-48 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000170731
AA Change: L307*
SMART Domains Protein: ENSMUSP00000126413
Gene: ENSMUSG00000020458
AA Change: L307*

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
low complexity region 31 57 N/A INTRINSIC
low complexity region 60 77 N/A INTRINSIC
low complexity region 85 100 N/A INTRINSIC
low complexity region 109 129 N/A INTRINSIC
low complexity region 134 160 N/A INTRINSIC
Pfam:Reticulon 169 339 4.2e-58 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (78/80)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. The product of this gene is a potent neurite outgrowth inhibitor which may also help block the regeneration of the central nervous system in higher vertebrates. Alternatively spliced transcript variants derived both from differential splicing and differential promoter usage and encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant mice lacking the A and B isoforms are viable and one line shows enhanced regeneration and recovery after spinal cord injury. Different lines of mice lacking isoforms A, B, and C show varying phenotypes. Whereas some produce viable homozygotes, others are embryonic lethal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd11 G A 5: 135,038,654 (GRCm39) C30Y probably benign Het
Akr1c20 C T 13: 4,562,671 (GRCm39) V95M probably damaging Het
Ano7 A G 1: 93,322,195 (GRCm39) D401G probably benign Het
Arhgef10l G A 4: 140,305,616 (GRCm39) T176I possibly damaging Het
Armc2 A C 10: 41,842,792 (GRCm39) V337G probably damaging Het
Atp6v0d2 T A 4: 19,922,400 (GRCm39) Y33F probably benign Het
Banp A G 8: 122,747,291 (GRCm39) S447G probably benign Het
Car8 T A 4: 8,238,860 (GRCm39) Y32F possibly damaging Het
Ccdc188 C T 16: 18,036,539 (GRCm39) P124S probably damaging Het
Cdc23 A T 18: 34,780,072 (GRCm39) D85E probably benign Het
Cnot6l T C 5: 96,242,084 (GRCm39) E213G possibly damaging Het
Cntnap4 A G 8: 113,484,113 (GRCm39) T389A probably benign Het
Cramp1 A T 17: 25,202,196 (GRCm39) C429S probably damaging Het
Crygn T C 5: 24,961,072 (GRCm39) H78R probably benign Het
D630003M21Rik T A 2: 158,059,588 (GRCm39) D104V probably damaging Het
Dcaf10 T G 4: 45,348,196 (GRCm39) H217Q probably damaging Het
Dmrtb1 C T 4: 107,541,179 (GRCm39) V61M probably benign Het
Dnai1 A G 4: 41,605,823 (GRCm39) E271G probably benign Het
Efr3a G A 15: 65,701,679 (GRCm39) V198I probably benign Het
Emsy G A 7: 98,289,060 (GRCm39) T79M probably damaging Het
Ergic1 A G 17: 26,853,449 (GRCm39) D145G probably damaging Het
Fah A G 7: 84,244,686 (GRCm39) V229A probably damaging Het
Fam76a G A 4: 132,629,342 (GRCm39) T270I probably damaging Het
Fat4 A T 3: 39,055,353 (GRCm39) M4191L probably benign Het
Fbxl22 G T 9: 66,418,999 (GRCm39) R213S probably benign Het
Fktn T C 4: 53,734,859 (GRCm39) F127L probably benign Het
Fmn2 CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC 1: 174,436,769 (GRCm39) probably benign Het
Gabbr2 A T 4: 46,734,096 (GRCm39) S541T probably benign Het
Gm7489 A G 15: 53,749,402 (GRCm39) H158R unknown Het
Greb1l G C 18: 10,542,056 (GRCm39) E1268Q probably benign Het
H2-D1 A G 17: 35,482,848 (GRCm39) D126G probably damaging Het
Ikzf3 T A 11: 98,409,525 (GRCm39) T13S probably benign Het
Il23r T C 6: 67,400,846 (GRCm39) T495A probably benign Het
Insyn2b A G 11: 34,353,034 (GRCm39) T359A probably benign Het
Irf5 A G 6: 29,535,461 (GRCm39) T230A probably benign Het
Itga2b A T 11: 102,348,108 (GRCm39) I831N probably damaging Het
Itgb4 A G 11: 115,891,087 (GRCm39) D1168G probably damaging Het
Kcnma1 G T 14: 23,440,991 (GRCm39) P605Q probably benign Het
Larp7 A T 3: 127,337,916 (GRCm39) M381K possibly damaging Het
Lfng G A 5: 140,598,588 (GRCm39) G269D probably benign Het
Liph T C 16: 21,780,986 (GRCm39) I335V probably benign Het
Map2k2 A T 10: 80,954,040 (GRCm39) I169F possibly damaging Het
Mmrn1 T A 6: 60,964,044 (GRCm39) probably null Het
Nod2 A G 8: 89,387,425 (GRCm39) probably null Het
Or51ag1 A C 7: 103,155,586 (GRCm39) L189R probably damaging Het
Or5b101 T A 19: 13,005,360 (GRCm39) Y111F probably benign Het
Or9s23 T C 1: 92,501,219 (GRCm39) F109L probably benign Het
Pcdh20 G T 14: 88,707,143 (GRCm39) F52L probably null Het
Pkhd1 A T 1: 20,573,223 (GRCm39) N1894K probably damaging Het
Pla2r1 T A 2: 60,334,536 (GRCm39) D412V possibly damaging Het
Pole T G 5: 110,465,663 (GRCm39) M1197R probably benign Het
Pom121l2 C T 13: 22,168,048 (GRCm39) T773I possibly damaging Het
Ppp2r5d A T 17: 46,995,472 (GRCm39) M497K probably benign Het
Rbm45 G T 2: 76,206,797 (GRCm39) V270F possibly damaging Het
Ros1 A T 10: 52,020,957 (GRCm39) F673I probably damaging Het
Scn4a A G 11: 106,212,841 (GRCm39) I1388T probably benign Het
Sema3c G A 5: 17,899,845 (GRCm39) V446I probably damaging Het
Six4 T C 12: 73,159,408 (GRCm39) Y176C probably damaging Het
Slc35a5 T A 16: 44,964,570 (GRCm39) K221M possibly damaging Het
Slc6a19 A G 13: 73,841,182 (GRCm39) I76T probably damaging Het
Slfn4 A G 11: 83,077,419 (GRCm39) D69G probably damaging Het
Smc6 T C 12: 11,367,844 (GRCm39) F1085L probably benign Het
Spatc1l A G 10: 76,398,224 (GRCm39) S9G probably benign Het
Stx8 T A 11: 68,000,106 (GRCm39) I182N probably damaging Het
Sult2a8 A T 7: 14,147,596 (GRCm39) C232S probably benign Het
Susd4 G A 1: 182,686,070 (GRCm39) A207T probably benign Het
Svep1 G A 4: 58,054,539 (GRCm39) P3350S probably benign Het
Tbx20 A T 9: 24,685,108 (GRCm39) S12T probably damaging Het
Tfrc A G 16: 32,437,985 (GRCm39) K346R probably benign Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Umodl1 A T 17: 31,192,666 (GRCm39) probably null Het
Vmn1r201 T C 13: 22,659,538 (GRCm39) F251L possibly damaging Het
Vmn1r230 A G 17: 21,066,933 (GRCm39) T41A probably benign Het
Vmn2r20 A G 6: 123,362,882 (GRCm39) L634P probably damaging Het
Vmn2r81 A T 10: 79,129,664 (GRCm39) R852W probably damaging Het
Wdr41 A T 13: 95,151,701 (GRCm39) N287I probably benign Het
Zfp202 A G 9: 40,121,758 (GRCm39) D285G possibly damaging Het
Other mutations in Rtn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01784:Rtn4 APN 11 29,657,291 (GRCm39) missense probably damaging 1.00
IGL02187:Rtn4 APN 11 29,658,291 (GRCm39) missense possibly damaging 0.78
IGL02475:Rtn4 APN 11 29,683,801 (GRCm39) missense probably damaging 1.00
IGL02751:Rtn4 APN 11 29,656,409 (GRCm39) critical splice acceptor site probably null
R0063:Rtn4 UTSW 11 29,655,527 (GRCm39) intron probably benign
R0110:Rtn4 UTSW 11 29,683,849 (GRCm39) splice site probably benign
R0510:Rtn4 UTSW 11 29,683,849 (GRCm39) splice site probably benign
R0653:Rtn4 UTSW 11 29,657,256 (GRCm39) missense probably damaging 1.00
R0658:Rtn4 UTSW 11 29,656,475 (GRCm39) missense probably damaging 1.00
R1353:Rtn4 UTSW 11 29,657,595 (GRCm39) missense probably damaging 1.00
R1384:Rtn4 UTSW 11 29,686,437 (GRCm39) missense probably damaging 1.00
R1406:Rtn4 UTSW 11 29,658,236 (GRCm39) missense probably benign 0.21
R1406:Rtn4 UTSW 11 29,658,236 (GRCm39) missense probably benign 0.21
R1873:Rtn4 UTSW 11 29,686,437 (GRCm39) missense probably damaging 1.00
R1960:Rtn4 UTSW 11 29,686,464 (GRCm39) missense probably damaging 1.00
R1980:Rtn4 UTSW 11 29,658,634 (GRCm39) missense probably benign 0.00
R2319:Rtn4 UTSW 11 29,657,154 (GRCm39) missense probably benign 0.06
R2888:Rtn4 UTSW 11 29,643,687 (GRCm39) missense probably damaging 0.98
R3150:Rtn4 UTSW 11 29,643,308 (GRCm39) small deletion probably benign
R3403:Rtn4 UTSW 11 29,657,690 (GRCm39) missense probably benign 0.12
R3974:Rtn4 UTSW 11 29,657,505 (GRCm39) missense probably damaging 1.00
R3977:Rtn4 UTSW 11 29,643,819 (GRCm39) missense probably benign 0.01
R4223:Rtn4 UTSW 11 29,656,856 (GRCm39) missense probably benign 0.02
R4725:Rtn4 UTSW 11 29,658,362 (GRCm39) missense probably damaging 1.00
R4801:Rtn4 UTSW 11 29,658,660 (GRCm39) missense probably benign 0.21
R4802:Rtn4 UTSW 11 29,658,660 (GRCm39) missense probably benign 0.21
R4974:Rtn4 UTSW 11 29,690,994 (GRCm39) missense probably damaging 1.00
R4983:Rtn4 UTSW 11 29,657,217 (GRCm39) missense probably benign 0.43
R5292:Rtn4 UTSW 11 29,657,924 (GRCm39) missense probably benign 0.39
R5332:Rtn4 UTSW 11 29,683,645 (GRCm39) missense probably damaging 1.00
R5551:Rtn4 UTSW 11 29,691,011 (GRCm39) missense probably damaging 1.00
R5604:Rtn4 UTSW 11 29,658,140 (GRCm39) missense probably damaging 0.97
R6046:Rtn4 UTSW 11 29,658,023 (GRCm39) missense probably damaging 1.00
R6928:Rtn4 UTSW 11 29,656,791 (GRCm39) missense possibly damaging 0.92
R7386:Rtn4 UTSW 11 29,657,772 (GRCm39) missense probably damaging 1.00
R7743:Rtn4 UTSW 11 29,683,790 (GRCm39) nonsense probably null
R7784:Rtn4 UTSW 11 29,691,048 (GRCm39) nonsense probably null
R7846:Rtn4 UTSW 11 29,643,274 (GRCm39) missense unknown
R7896:Rtn4 UTSW 11 29,655,536 (GRCm39) missense probably damaging 1.00
R8297:Rtn4 UTSW 11 29,655,536 (GRCm39) missense probably damaging 1.00
R8420:Rtn4 UTSW 11 29,657,300 (GRCm39) missense probably damaging 0.99
R8724:Rtn4 UTSW 11 29,643,316 (GRCm39) missense unknown
R8823:Rtn4 UTSW 11 29,656,609 (GRCm39) missense probably benign 0.05
R8872:Rtn4 UTSW 11 29,658,633 (GRCm39) missense probably benign 0.17
R9196:Rtn4 UTSW 11 29,658,471 (GRCm39) missense probably benign 0.00
R9223:Rtn4 UTSW 11 29,656,778 (GRCm39) missense probably benign 0.00
R9384:Rtn4 UTSW 11 29,658,471 (GRCm39) missense probably benign 0.00
R9493:Rtn4 UTSW 11 29,691,011 (GRCm39) missense probably damaging 1.00
R9655:Rtn4 UTSW 11 29,657,504 (GRCm39) missense probably damaging 1.00
RF006:Rtn4 UTSW 11 29,656,919 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- AGGCAGTTCTGCTCTATCATG -3'
(R):5'- CACCTAAGGCAGCTGTTAGC -3'

Sequencing Primer
(F):5'- AGTGAATCAACTCCCATTTTTGGTC -3'
(R):5'- CTGGAGTAGTCTTCAGGAGCTAAC -3'
Posted On 2019-12-20