Incidental Mutation 'R4274:Rtn2'
ID 324703
Institutional Source Beutler Lab
Gene Symbol Rtn2
Ensembl Gene ENSMUSG00000030401
Gene Name reticulon 2 (Z-band associated protein)
Synonyms Nspl1
MMRRC Submission 041077-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.542) question?
Stock # R4274 (G1)
Quality Score 190
Status Validated
Chromosome 7
Chromosomal Location 19016549-19030085 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19021249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 210 (S210P)
Ref Sequence ENSEMBL: ENSMUSP00000032559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032559] [ENSMUST00000108468]
AlphaFold O70622
Predicted Effect probably benign
Transcript: ENSMUST00000032559
AA Change: S210P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000032559
Gene: ENSMUSG00000030401
AA Change: S210P

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 benign
Transcript: ENSMUST00000108468
SMART Domains Protein: ENSMUSP00000104108
Gene: ENSMUSG00000030401

DomainStartEndE-ValueType
Pfam:Reticulon 5 175 3.5e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209186
Meta Mutation Damage Score 0.0631 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 98% (55/56)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,980,930 (GRCm39) Y36C probably damaging Het
Abcc4 T C 14: 118,867,034 (GRCm39) R228G probably damaging Het
Acap2 A T 16: 30,926,932 (GRCm39) S528T probably benign Het
Adamts6 T A 13: 104,450,787 (GRCm39) D323E possibly damaging Het
Ano8 G T 8: 71,931,385 (GRCm39) probably benign Het
Ano9 T G 7: 140,690,608 (GRCm39) Q48P probably benign Het
Atp13a1 T G 8: 70,257,942 (GRCm39) L899R probably benign Het
Card10 G A 15: 78,664,714 (GRCm39) R747W probably damaging Het
Csn1s1 T C 5: 87,828,820 (GRCm39) *295R probably null Het
Dhx9 A G 1: 153,344,672 (GRCm39) I505T probably damaging Het
Dnajc17 A T 2: 119,016,866 (GRCm39) S37T probably benign Het
Dot1l T A 10: 80,619,822 (GRCm39) probably null Het
Dph7 A G 2: 24,853,512 (GRCm39) N109S possibly damaging Het
Ednra C T 8: 78,446,931 (GRCm39) G49D probably benign Het
Fam83g T C 11: 61,592,554 (GRCm39) M259T probably damaging Het
Fer1l4 A T 2: 155,862,464 (GRCm39) D1736E probably damaging Het
Fetub T C 16: 22,754,429 (GRCm39) I212T probably damaging Het
Foxc2 C A 8: 121,844,439 (GRCm39) S362R probably benign Het
Gm8444 A G 15: 81,727,734 (GRCm39) probably benign Het
Gpank1 G A 17: 35,343,245 (GRCm39) E242K probably benign Het
Hps4 G A 5: 112,522,896 (GRCm39) probably benign Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Ighv1-20 A T 12: 114,687,819 (GRCm39) W3R probably damaging Het
Kcnq1 T C 7: 142,738,179 (GRCm39) I209T probably damaging Het
Me3 A T 7: 89,455,934 (GRCm39) E262V probably damaging Het
Mei1 G A 15: 82,009,064 (GRCm39) R1233Q possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mrgprx3-ps T C 7: 46,959,574 (GRCm39) noncoding transcript Het
Or4k37 A T 2: 111,159,160 (GRCm39) Y132F probably damaging Het
Or5p6 C A 7: 107,630,751 (GRCm39) K266N probably benign Het
Or8a1b A T 9: 37,623,364 (GRCm39) D70E probably damaging Het
Ostm1 T C 10: 42,574,230 (GRCm39) F153L probably damaging Het
Pkd1l3 C T 8: 110,350,751 (GRCm39) T532I possibly damaging Het
Prpf40a G A 2: 53,036,184 (GRCm39) H624Y probably damaging Het
Siglec1 T C 2: 130,927,734 (GRCm39) Q24R probably benign Het
Smurf1 T C 5: 144,833,585 (GRCm39) probably benign Het
Ssr1 G A 13: 38,169,266 (GRCm39) L225F possibly damaging Het
Tlr6 A G 5: 65,110,981 (GRCm39) I642T probably benign Het
Tnpo1 GCACCTCTGCTTCCTC GCACCTCTGCTTCCTCACCTCTGCTTCCTC 13: 99,003,637 (GRCm39) probably null Het
Tnrc18 T C 5: 142,729,405 (GRCm39) K1674R unknown Het
Tns1 T A 1: 73,967,257 (GRCm39) Y1115F probably damaging Het
Trim56 T A 5: 137,142,541 (GRCm39) E325V probably damaging Het
Ttn T C 2: 76,606,318 (GRCm39) T18164A possibly damaging Het
Ugt2a3 A T 5: 87,475,548 (GRCm39) D361E probably damaging Het
Vmn2r125 T C 4: 156,702,382 (GRCm39) I56T probably benign Het
Xkr5 T A 8: 18,984,183 (GRCm39) H453L probably benign Het
Zcchc7 C T 4: 44,931,335 (GRCm39) H496Y possibly damaging Het
Zfp82 C T 7: 29,755,792 (GRCm39) R430H probably damaging Het
Zscan22 T C 7: 12,640,251 (GRCm39) V6A probably benign Het
Other mutations in Rtn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02948:Rtn2 APN 7 19,027,036 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CCTCTGGAAAATGAGGAGCC -3'
(R):5'- GAGCGGCTCCAACATGAATTC -3'

Sequencing Primer
(F):5'- CCTGATGGATTGGAGGCCAG -3'
(R):5'- CGGCTCCAACATGAATTCTGATTGG -3'
Posted On 2015-06-24