Incidental Mutation 'IGL02948:Rtn2'
ID 364823
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rtn2
Ensembl Gene ENSMUSG00000030401
Gene Name reticulon 2 (Z-band associated protein)
Synonyms Nspl1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.542) question?
Stock # IGL02948
Quality Score
Status
Chromosome 7
Chromosomal Location 19016549-19030085 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19027036 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 17 (S17P)
Ref Sequence ENSEMBL: ENSMUSP00000104108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032559] [ENSMUST00000108468]
AlphaFold O70622
Predicted Effect probably benign
Transcript: ENSMUST00000032559
AA Change: S284P

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000032559
Gene: ENSMUSG00000030401
AA Change: S284P

DomainStartEndE-ValueType
low complexity region 14 25 N/A INTRINSIC
low complexity region 42 53 N/A INTRINSIC
low complexity region 70 85 N/A INTRINSIC
low complexity region 119 144 N/A INTRINSIC
Pfam:Reticulon 272 436 2.9e-45 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108468
AA Change: S17P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104108
Gene: ENSMUSG00000030401
AA Change: S17P

DomainStartEndE-ValueType
Pfam:Reticulon 5 175 3.5e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209186
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 necessary for proper generation of tubular endoplasmic reticulum and likely play a role in intracellular vesicular transport. Alternatively spliced transcript variants encoding different isoforms have been identified. Mutations at this locus have been associated with autosomal dominant spastic paraplegia-12. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice heterozygous and homozygous for an allele disrupting the skeletal isoform exhibit abollished or severely impaired glucose uptake in skeletal muscle. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Targeted, knock-out(1) Gene trapped(4)

Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,094,318 (GRCm39) probably benign Het
Ano3 A T 2: 110,527,363 (GRCm39) probably benign Het
Arpp21 T C 9: 112,005,268 (GRCm39) Y193C probably damaging Het
Atm G A 9: 53,364,740 (GRCm39) probably benign Het
Ceacam13 C T 7: 17,744,988 (GRCm39) probably benign Het
Cenpi T A X: 133,250,017 (GRCm39) C599S possibly damaging Het
Clec7a A C 6: 129,442,441 (GRCm39) D195E possibly damaging Het
Cnksr1 T C 4: 133,962,417 (GRCm39) probably null Het
Cntn1 A G 15: 92,143,891 (GRCm39) T285A probably benign Het
Dusp4 G T 8: 35,285,726 (GRCm39) G329V probably damaging Het
Emb C A 13: 117,409,602 (GRCm39) probably benign Het
Esyt1 A T 10: 128,355,040 (GRCm39) S496T probably damaging Het
Evpl T C 11: 116,112,648 (GRCm39) T1681A probably damaging Het
Fam131b A C 6: 42,297,926 (GRCm39) probably benign Het
Fam162b T C 10: 51,463,392 (GRCm39) M92V probably damaging Het
Fbxw2 T C 2: 34,695,723 (GRCm39) *455W probably null Het
Gm12886 A G 4: 121,280,234 (GRCm39) L14P unknown Het
Gpc4 A T X: 51,163,178 (GRCm39) V235E probably damaging Het
Gss A G 2: 155,419,541 (GRCm39) L170P probably damaging Het
Hbs1l C T 10: 21,217,610 (GRCm39) probably benign Het
Hhatl T C 9: 121,618,857 (GRCm39) M92V probably benign Het
Hhla1 A T 15: 65,814,542 (GRCm39) L194H probably damaging Het
Hivep2 C A 10: 14,004,757 (GRCm39) R452S probably benign Het
Homer2 C A 7: 81,299,393 (GRCm39) W24L probably damaging Het
Lhcgr A T 17: 89,050,050 (GRCm39) L492H probably damaging Het
Lrba C A 3: 86,217,691 (GRCm39) probably null Het
Lrp2 G T 2: 69,318,181 (GRCm39) P2090Q probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Madd T A 2: 90,973,172 (GRCm39) M1497L probably benign Het
Naprt C T 15: 75,764,206 (GRCm39) R336Q probably damaging Het
Nars1 A G 18: 64,638,266 (GRCm39) C266R possibly damaging Het
Or10v1 T A 19: 11,874,145 (GRCm39) Y253* probably null Het
Or5k8 T A 16: 58,644,451 (GRCm39) Q207L probably benign Het
Pard3 A T 8: 128,032,975 (GRCm39) T190S probably benign Het
Pstpip2 A G 18: 77,942,507 (GRCm39) N86S probably benign Het
Ptgfrn T C 3: 100,980,135 (GRCm39) T402A probably benign Het
Rnf130 T C 11: 49,943,598 (GRCm39) probably benign Het
Ropn1l T C 15: 31,451,325 (GRCm39) D53G possibly damaging Het
Rps6ka2 G A 17: 7,521,849 (GRCm39) probably null Het
Shank2 T C 7: 143,963,373 (GRCm39) V327A probably benign Het
Slc22a16 T G 10: 40,449,958 (GRCm39) Y131* probably null Het
Slc28a2 T A 2: 122,288,458 (GRCm39) M583K possibly damaging Het
Slco1a6 G T 6: 142,078,961 (GRCm39) probably null Het
Slfn8 T A 11: 82,894,078 (GRCm39) I854F probably damaging Het
Strip1 T C 3: 107,520,582 (GRCm39) R823G probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tcl1b5 C T 12: 105,145,273 (GRCm39) T79M probably benign Het
Tmem104 G T 11: 115,088,122 (GRCm39) A36S probably damaging Het
Trim55 T A 3: 19,725,116 (GRCm39) L211Q probably damaging Het
Trim80 T C 11: 115,332,419 (GRCm39) W204R possibly damaging Het
Ttbk1 G A 17: 46,757,256 (GRCm39) T1126I probably benign Het
Ubqln2 C T X: 152,282,692 (GRCm39) Q415* probably null Het
Unc13a C T 8: 72,103,193 (GRCm39) R931H possibly damaging Het
Utp4 T A 8: 107,621,273 (GRCm39) S17T probably benign Het
Other mutations in Rtn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
G5030:Rtn2 UTSW 7 19,027,099 (GRCm39) missense probably damaging 1.00
R0067:Rtn2 UTSW 7 19,028,396 (GRCm39) splice site probably benign
R2036:Rtn2 UTSW 7 19,027,664 (GRCm39) missense probably damaging 1.00
R2240:Rtn2 UTSW 7 19,020,754 (GRCm39) splice site probably null
R4111:Rtn2 UTSW 7 19,020,769 (GRCm39) missense probably damaging 1.00
R4274:Rtn2 UTSW 7 19,021,249 (GRCm39) missense probably benign 0.00
R4678:Rtn2 UTSW 7 19,027,820 (GRCm39) missense probably damaging 1.00
R6667:Rtn2 UTSW 7 19,021,184 (GRCm39) missense probably benign 0.01
R7944:Rtn2 UTSW 7 19,020,987 (GRCm39) missense probably benign 0.01
R7945:Rtn2 UTSW 7 19,020,987 (GRCm39) missense probably benign 0.01
R8094:Rtn2 UTSW 7 19,027,791 (GRCm39) missense probably damaging 1.00
Z1177:Rtn2 UTSW 7 19,021,402 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18