Incidental Mutation 'RF006:Rtn4'
ID 602837
Institutional Source Beutler Lab
Gene Symbol Rtn4
Ensembl Gene ENSMUSG00000020458
Gene Name reticulon 4
Synonyms 1110020G17Rik, C130026I10Rik, Nogo-A, NgA, NOGO, Nogo-B
Accession Numbers
Essential gene? Probably essential (E-score: 0.763) question?
Stock # RF006 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 29642947-29694331 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29656919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 358 (S358P)
Ref Sequence ENSEMBL: ENSMUSP00000099907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078830] [ENSMUST00000102841] [ENSMUST00000102842] [ENSMUST00000102843] [ENSMUST00000170731]
AlphaFold Q99P72
Predicted Effect probably benign
Transcript: ENSMUST00000078830
SMART Domains Protein: ENSMUSP00000077875
Gene: ENSMUSG00000020458

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 benign
Transcript: ENSMUST00000102841
AA Change: S242P

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099905
Gene: ENSMUSG00000020458
AA Change: S242P

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

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 possibly damaging
Transcript: ENSMUST00000102843
AA Change: S358P

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099907
Gene: ENSMUSG00000020458
AA Change: S358P

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 benign
Transcript: ENSMUST00000170731
SMART Domains Protein: ENSMUSP00000126413
Gene: ENSMUSG00000020458

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: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.5%
Validation Efficiency 97% (36/37)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd7 GTT GT 2: 3,341,736 (GRCm39) probably null Het
Acp7 A T 7: 28,314,204 (GRCm39) N330K possibly damaging Het
Adam25 A T 8: 41,208,834 (GRCm39) H700L probably benign Het
Alg9 GGGTGG GGGTGGTGG 9: 50,686,717 (GRCm39) probably benign Het
Atp8b3 A T 10: 80,362,070 (GRCm39) V689E probably benign Het
Atxn2l A G 7: 126,095,063 (GRCm39) V533A probably benign Het
Catsperb G A 12: 101,542,238 (GRCm39) probably null Het
Ccdc121 C T 5: 31,644,894 (GRCm39) Q216* probably null Het
Ccdc13 T C 9: 121,643,273 (GRCm39) K376R probably damaging Het
Ccdc170 C CCAA 10: 4,511,030 (GRCm39) probably benign Het
Cdh9 G C 15: 16,855,916 (GRCm39) R652P probably damaging Het
Cenpf A C 1: 189,389,583 (GRCm39) C1416W probably damaging Het
Chga GCA GCATCA 12: 102,527,671 (GRCm39) probably benign Het
Cyb5r4 TGTGACAGACACACTGCCCAGGGAAG TGTGACAGACACACTGCCCAGGGAAGTGACAGACACACTGCCCAGGGAAG 9: 86,922,478 (GRCm39) probably benign Het
Cyb5r4 CCCAGGGA CCCAGGGATGTGAGAGACACGCTGGCCAGGGA 9: 86,922,494 (GRCm39) probably benign Het
Dennd3 T C 15: 73,419,441 (GRCm39) I744T probably damaging Het
Dnah1 C T 14: 31,029,832 (GRCm39) R491Q probably benign Het
Eif4a2 A T 16: 22,929,028 (GRCm39) M188L possibly damaging Het
Esf1 CTCCTCTTC CTC 2: 140,006,294 (GRCm39) probably benign Het
Fat3 T C 9: 15,909,913 (GRCm39) I2030V probably benign Het
Gab3 CTT CTTTTT X: 74,043,633 (GRCm39) probably benign Het
Gins4 A T 8: 23,717,183 (GRCm39) V195E possibly damaging Het
Gm17402 TCCTCCTCC TCCTCCTCCCCCTCCTCC 3: 67,272,892 (GRCm39) probably benign Het
Gm17604 CTCTCTTTC CTC X: 163,786,814 (GRCm39) probably null Het
Gm8369 GTGTGT GTGTGTTTGTGT 19: 11,489,128 (GRCm39) probably benign Het
Gnpnat1 T A 14: 45,620,900 (GRCm39) probably null Het
Inpp4a A C 1: 37,427,908 (GRCm39) N651T possibly damaging Het
Ireb2 T C 9: 54,788,768 (GRCm39) F81L possibly damaging Het
Kcnh3 T A 15: 99,137,809 (GRCm39) probably null Het
Kmt2b CTCCTC CTCCTCATCCTC 7: 30,285,802 (GRCm39) probably benign Het
Kmt2c TG TGCTGTGG 5: 25,520,770 (GRCm39) probably benign Het
Myt1 T C 2: 181,439,566 (GRCm39) S405P probably damaging Het
Net1 T C 13: 3,937,406 (GRCm39) T245A probably benign Het
Nkx2-1 T C 12: 56,580,332 (GRCm39) T203A probably damaging Het
Oas3 T C 5: 120,912,165 (GRCm39) E75G probably damaging Het
Pappa T A 4: 65,242,110 (GRCm39) D1491E probably benign Het
Pkhd1l1 C A 15: 44,366,634 (GRCm39) T704K probably benign Het
Pkhd1l1 TT TTTTTTTTTGT 15: 44,421,903 (GRCm39) probably benign Het
Plscr1l1 A T 9: 92,234,702 (GRCm39) I146F possibly damaging Het
Ppp1r8 TCTCTCAC TC 4: 132,557,928 (GRCm39) probably benign Het
Ppp2r3c T A 12: 55,340,600 (GRCm39) I157F probably benign Het
Pramel34 A T 5: 93,784,562 (GRCm39) C301S probably benign Het
Rspo4 C T 2: 151,709,797 (GRCm39) probably null Het
Siglecg T A 7: 43,058,288 (GRCm39) Y58* probably null Het
Slc4a1 C T 11: 102,247,542 (GRCm39) probably null Het
Slc9b1 CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG 3: 135,063,303 (GRCm39) probably benign Het
Smc2 T A 4: 52,442,276 (GRCm39) D64E probably benign Het
Spaca1 CTCGC CTCGCTATCGC 4: 34,049,853 (GRCm39) probably benign Het
Srrm2 A G 17: 24,031,562 (GRCm39) S236G unknown Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Strn TGCTCCCTTACCCCAGTC TGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGAGCTCCCTTACCCCAGTC 17: 78,984,700 (GRCm39) probably null Het
Tfeb CAG CAGGAG 17: 48,097,038 (GRCm39) probably benign Het
Tktl2 A T 8: 66,965,504 (GRCm39) E354V probably benign Het
Tpte A G 8: 22,796,959 (GRCm39) T94A probably benign Het
Usp40 A C 1: 87,894,917 (GRCm39) S868A possibly damaging Het
Vmn2r24 G A 6: 123,783,378 (GRCm39) C526Y probably damaging Het
Vmn2r58 CAAAATGATGTAGCACTT C 7: 41,486,383 (GRCm39) probably null 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
R7832: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
Predicted Primers PCR Primer
(F):5'- GGAGAGTCAGCCATGTTAGTAG -3'
(R):5'- CCTGGGGAAAGAAGCATTCTC -3'

Sequencing Primer
(F):5'- GTCAGCCATGTTAGTAGAAAACAC -3'
(R):5'- CCTGGGGAAAGAAGCATTCTCATTTC -3'
Posted On 2019-12-04