Incidental Mutation 'R0067:Rtn2'
ID 59641
Institutional Source Beutler Lab
Gene Symbol Rtn2
Ensembl Gene ENSMUSG00000030401
Gene Name reticulon 2 (Z-band associated protein)
Synonyms Nspl1
MMRRC Submission 038358-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.430) question?
Stock # R0067 (G1)
Quality Score 215
Status Validated
Chromosome 7
Chromosomal Location 19016549-19030085 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 19028396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032559] [ENSMUST00000108468]
AlphaFold O70622
Predicted Effect probably benign
Transcript: ENSMUST00000032559
SMART Domains Protein: ENSMUSP00000032559
Gene: ENSMUSG00000030401

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: ENSMUST00000181066
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209186
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.3%
Validation Efficiency 97% (63/65)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 C T 7: 28,610,995 (GRCm39) V248M possibly damaging Het
Adamts9 T A 6: 92,867,148 (GRCm39) K79N probably damaging Het
AW209491 A T 13: 14,812,328 (GRCm39) I394F probably benign Het
Cacna1d A T 14: 29,796,967 (GRCm39) probably benign Het
Cacna1i A T 15: 80,265,373 (GRCm39) I1542F probably damaging Het
Cep97 A T 16: 55,735,924 (GRCm39) N291K possibly damaging Het
Clasp2 A T 9: 113,689,209 (GRCm39) probably benign Het
Coq8b T C 7: 26,932,906 (GRCm39) L5P possibly damaging Het
Dennd1c T C 17: 57,382,465 (GRCm39) Q67R probably damaging Het
Dysf T C 6: 84,040,313 (GRCm39) V119A possibly damaging Het
Eml1 A G 12: 108,429,786 (GRCm39) D23G possibly damaging Het
Eva1c A T 16: 90,663,305 (GRCm39) D13V possibly damaging Het
Fam151b T C 13: 92,610,504 (GRCm39) K95R probably benign Het
Glo1 A T 17: 30,813,245 (GRCm39) probably null Het
Gm11360 T A 13: 28,140,214 (GRCm39) M26K probably benign Het
Gps2 C T 11: 69,805,607 (GRCm39) Q42* probably null Het
Gypa A G 8: 81,229,710 (GRCm39) H102R possibly damaging Het
Hdac4 G A 1: 91,957,706 (GRCm39) H103Y probably damaging Het
Hivep1 T A 13: 42,312,132 (GRCm39) D1457E probably benign Het
Hunk A G 16: 90,244,200 (GRCm39) D110G probably damaging Het
L3mbtl1 A G 2: 162,790,748 (GRCm39) K225E probably damaging Het
Limch1 A G 5: 67,131,965 (GRCm39) S143G probably damaging Het
Macf1 T C 4: 123,369,041 (GRCm39) K342E possibly damaging Het
Mc5r T A 18: 68,472,637 (GRCm39) M332K probably damaging Het
Memo1 A G 17: 74,532,453 (GRCm39) V185A probably damaging Het
Mtrex C T 13: 113,023,396 (GRCm39) V727I probably benign Het
Myf6 A T 10: 107,329,340 (GRCm39) probably null Het
Myh14 G A 7: 44,272,551 (GRCm39) T1418I probably benign Het
Pbk G A 14: 66,052,675 (GRCm39) V173I possibly damaging Het
Plekha5 C T 6: 140,470,629 (GRCm39) T90I probably damaging Het
Ptbp2 T C 3: 119,514,290 (GRCm39) T478A probably benign Het
Rasgrp1 C A 2: 117,125,301 (GRCm39) R246S probably damaging Het
Rflnb A T 11: 75,912,987 (GRCm39) S134T possibly damaging Het
Rnf214 A G 9: 45,778,796 (GRCm39) probably null Het
Rps6ka5 T A 12: 100,582,342 (GRCm39) I177F probably damaging Het
Satb1 T C 17: 52,111,364 (GRCm39) T165A probably damaging Het
Scamp1 T C 13: 94,340,658 (GRCm39) Y237C probably damaging Het
Skint10 A T 4: 112,568,753 (GRCm39) F321L probably benign Het
Slc36a2 A G 11: 55,053,466 (GRCm39) probably benign Het
Slc8a1 A G 17: 81,745,188 (GRCm39) V672A probably benign Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Sp140l2 T A 1: 85,247,773 (GRCm39) N5Y probably benign Het
Spats2 C A 15: 99,110,168 (GRCm39) P522T possibly damaging Het
Stkld1 A T 2: 26,839,352 (GRCm39) E339D probably benign Het
Tbc1d9 A G 8: 83,960,872 (GRCm39) T241A probably damaging Het
Ticrr A T 7: 79,327,158 (GRCm39) D622V probably damaging Het
Tie1 A G 4: 118,333,477 (GRCm39) probably benign Het
Trak1 G C 9: 121,301,973 (GRCm39) V910L probably damaging Het
Trmt1l T C 1: 151,324,131 (GRCm39) V326A probably benign Het
Tshr A G 12: 91,472,057 (GRCm39) T136A probably damaging Het
Ube3c A G 5: 29,803,936 (GRCm39) T180A possibly damaging Het
Unc13a A C 8: 72,087,302 (GRCm39) F1482V probably damaging Het
Unc79 A G 12: 103,025,777 (GRCm39) E388G probably damaging Het
Ush2a A T 1: 188,697,043 (GRCm39) D5167V probably damaging Het
Vmn2r93 A T 17: 18,546,672 (GRCm39) H848L probably benign Het
Wdfy4 G A 14: 32,884,708 (GRCm39) R65C probably null Het
Zcchc9 T C 13: 91,945,368 (GRCm39) I72V probably benign Het
Zfc3h1 G T 10: 115,259,379 (GRCm39) L1650F possibly damaging Het
Zzz3 A G 3: 152,134,040 (GRCm39) D366G possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- GTGGAATATGGCTCCACATGGAGG -3'
(R):5'- TGGCACTGACATTGAACTCATGGC -3'

Sequencing Primer
(F):5'- caggaagagagtaatagaatcaggg -3'
(R):5'- ctggtggagtctatgcagc -3'
Posted On 2013-07-11