Incidental Mutation 'IGL02751:Rtn4'
ID306315
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rtn4
Ensembl Gene ENSMUSG00000020458
Gene Namereticulon 4
SynonymsNOGO, C130026I10Rik, NgA, 1110020G17Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.694) question?
Stock #IGL02751
Quality Score
Status
Chromosome11
Chromosomal Location29692947-29744331 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) G to A at 29706409 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078830] [ENSMUST00000102841] [ENSMUST00000102842] [ENSMUST00000102843] [ENSMUST00000170731]
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 null
Transcript: ENSMUST00000102841
SMART Domains Protein: ENSMUSP00000099905
Gene: ENSMUSG00000020458

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 probably null
Transcript: ENSMUST00000102843
SMART Domains Protein: ENSMUSP00000099907
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
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
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1a A T 14: 66,727,532 I324F possibly damaging Het
Ago2 G A 15: 73,130,897 A162V possibly damaging Het
Aox4 G T 1: 58,259,052 R1059I probably damaging Het
AU021092 C A 16: 5,212,619 V304L probably damaging Het
Bcs1l T G 1: 74,589,616 F20V probably damaging Het
Braf T C 6: 39,660,867 probably benign Het
Cacna1a T C 8: 84,569,952 C1200R probably damaging Het
Ccdc116 T A 16: 17,141,972 R284S probably benign Het
Cntnap5a T G 1: 116,184,457 probably null Het
Col12a1 A T 9: 79,613,859 probably benign Het
Cpa4 T A 6: 30,581,740 Y229N probably damaging Het
Fbp1 A C 13: 62,875,143 probably null Het
Gimap3 A T 6: 48,765,238 W253R probably benign Het
Gm1330 G A 2: 148,990,473 probably benign Het
Gm4841 A G 18: 60,271,021 probably benign Het
Grip1 A G 10: 119,978,577 T338A probably benign Het
Hmg20b A T 10: 81,346,551 probably benign Het
Hnrnpdl A G 5: 100,037,974 F151L probably damaging Het
Klhl30 T A 1: 91,354,099 F141I probably damaging Het
Lamc3 T A 2: 31,920,704 F862Y probably benign Het
Lap3 T C 5: 45,504,796 C313R probably damaging Het
Lrp2 T C 2: 69,533,462 T344A possibly damaging Het
Mga A G 2: 119,947,770 E2023G possibly damaging Het
Mical2 A T 7: 112,332,036 K735N probably benign Het
Muc15 A G 2: 110,731,773 T185A probably benign Het
Olfr109 T C 17: 37,466,415 C70R probably damaging Het
Osbp2 T C 11: 3,863,434 K145R probably benign Het
Pde1c T C 6: 56,181,688 T52A probably damaging Het
Pidd1 A G 7: 141,439,163 S802P possibly damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Prep T A 10: 45,115,186 I316N probably damaging Het
Prl3d2 G A 13: 27,126,031 probably null Het
Pygo1 A T 9: 72,945,037 I169F probably benign Het
Rnf10 G T 5: 115,242,666 A716E probably benign Het
Ryr1 A T 7: 29,078,774 V2099E probably damaging Het
Slc48a1 G A 15: 97,790,080 probably benign Het
Spag17 T A 3: 100,010,794 Y364* probably null Het
Syt3 A T 7: 44,386,062 D31V possibly damaging Het
Tango2 G T 16: 18,307,993 P143H probably benign Het
Tas2r104 A G 6: 131,685,144 S201P probably damaging Het
Tas2r107 G A 6: 131,659,484 L201F probably damaging Het
Vmn1r81 A T 7: 12,260,447 L78Q probably damaging Het
Vmn2r18 T A 5: 151,584,607 T351S probably benign Het
Other mutations in Rtn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01784:Rtn4 APN 11 29707291 missense probably damaging 1.00
IGL02187:Rtn4 APN 11 29708291 missense possibly damaging 0.78
IGL02475:Rtn4 APN 11 29733801 missense probably damaging 1.00
R0063:Rtn4 UTSW 11 29705527 intron probably benign
R0110:Rtn4 UTSW 11 29733849 splice site probably benign
R0510:Rtn4 UTSW 11 29733849 splice site probably benign
R0653:Rtn4 UTSW 11 29707256 missense probably damaging 1.00
R0658:Rtn4 UTSW 11 29706475 missense probably damaging 1.00
R1353:Rtn4 UTSW 11 29707595 missense probably damaging 1.00
R1384:Rtn4 UTSW 11 29736437 missense probably damaging 1.00
R1406:Rtn4 UTSW 11 29708236 missense probably benign 0.21
R1406:Rtn4 UTSW 11 29708236 missense probably benign 0.21
R1873:Rtn4 UTSW 11 29736437 missense probably damaging 1.00
R1960:Rtn4 UTSW 11 29736464 missense probably damaging 1.00
R1980:Rtn4 UTSW 11 29708634 missense probably benign 0.00
R2319:Rtn4 UTSW 11 29707154 missense probably benign 0.06
R2888:Rtn4 UTSW 11 29693687 missense probably damaging 0.98
R3150:Rtn4 UTSW 11 29693308 small deletion probably benign
R3403:Rtn4 UTSW 11 29707690 missense probably benign 0.12
R3974:Rtn4 UTSW 11 29707505 missense probably damaging 1.00
R3977:Rtn4 UTSW 11 29693819 missense probably benign 0.01
R4223:Rtn4 UTSW 11 29706856 missense probably benign 0.02
R4725:Rtn4 UTSW 11 29708362 missense probably damaging 1.00
R4801:Rtn4 UTSW 11 29708660 missense probably benign 0.21
R4802:Rtn4 UTSW 11 29708660 missense probably benign 0.21
R4974:Rtn4 UTSW 11 29740994 missense probably damaging 1.00
R4983:Rtn4 UTSW 11 29707217 missense probably benign 0.43
R5292:Rtn4 UTSW 11 29707924 missense probably benign 0.39
R5332:Rtn4 UTSW 11 29733645 missense probably damaging 1.00
R5551:Rtn4 UTSW 11 29741011 missense probably damaging 1.00
R5604:Rtn4 UTSW 11 29708140 missense probably damaging 0.97
R6046:Rtn4 UTSW 11 29708023 missense probably damaging 1.00
R6928:Rtn4 UTSW 11 29706791 missense possibly damaging 0.92
R7386:Rtn4 UTSW 11 29707772 missense probably damaging 1.00
Posted On2015-04-16