Incidental Mutation 'R0104:Rtn1'
ID 16457
Institutional Source Beutler Lab
Gene Symbol Rtn1
Ensembl Gene ENSMUSG00000021087
Gene Name reticulon 1
Synonyms Rtn1-c, 4930441F12Rik, Nsp, Rtn1-a, Rtn1-b, 0710005K15Rik
MMRRC Submission 038390-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0104 (G1)
Quality Score
Status Validated
Chromosome 12
Chromosomal Location 72258526-72455828 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72355619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 109 (I109N)
Ref Sequence ENSEMBL: ENSMUSP00000077594 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078505]
AlphaFold Q8K0T0
Predicted Effect probably damaging
Transcript: ENSMUST00000078505
AA Change: I109N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000077594
Gene: ENSMUSG00000021087
AA Change: I109N

DomainStartEndE-ValueType
low complexity region 135 152 N/A INTRINSIC
low complexity region 217 226 N/A INTRINSIC
low complexity region 327 341 N/A INTRINSIC
low complexity region 438 448 N/A INTRINSIC
low complexity region 473 480 N/A INTRINSIC
low complexity region 574 586 N/A INTRINSIC
Pfam:Reticulon 593 757 2.2e-46 PFAM
Meta Mutation Damage Score 0.6236 question?
Coding Region Coverage
  • 1x: 75.5%
  • 3x: 52.6%
  • 10x: 7.5%
  • 20x: 3.0%
Validation Efficiency 100% (37/37)
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. This gene is considered to be a specific marker for neurological diseases and cancer, and is a potential molecular target for therapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik C A 4: 124,504,469 (GRCm39) A28S probably damaging Het
Arhgap5 A T 12: 52,563,500 (GRCm39) D157V probably damaging Het
Cfap54 G T 10: 92,864,514 (GRCm39) H142N probably damaging Het
Dpp10 A T 1: 123,295,572 (GRCm39) M525K probably benign Het
Fsip2 A T 2: 82,809,317 (GRCm39) T1879S possibly damaging Het
Gm14129 T C 2: 148,773,493 (GRCm39) noncoding transcript Het
Ighv2-7 A T 12: 113,771,088 (GRCm39) W66R probably damaging Het
Kif11 T A 19: 37,401,663 (GRCm39) V880D probably benign Het
Mcpt1 T A 14: 56,256,888 (GRCm39) M142K possibly damaging Het
Mlst8 T C 17: 24,695,091 (GRCm39) N264S possibly damaging Het
Nmrk1 T A 19: 18,618,582 (GRCm39) S88R probably benign Het
Or14j2 T A 17: 37,885,817 (GRCm39) I166F probably damaging Het
Or8d23 A G 9: 38,842,261 (GRCm39) S265G possibly damaging Het
Slc15a2 T A 16: 36,594,997 (GRCm39) L156F possibly damaging Het
Slc22a21 A C 11: 53,842,635 (GRCm39) M498R probably null Het
Ssc5d T C 7: 4,939,285 (GRCm39) S574P probably benign Het
Taf2 T C 15: 54,901,734 (GRCm39) D820G probably benign Het
Tas2r135 A T 6: 42,383,258 (GRCm39) I266F possibly damaging Het
Trgv4 C T 13: 19,369,480 (GRCm39) H75Y probably damaging Het
Vil1 A G 1: 74,457,525 (GRCm39) K53E probably benign Het
Zfc3h1 T A 10: 115,251,192 (GRCm39) M1261K possibly damaging Het
Zfp655 T C 5: 145,180,825 (GRCm39) S228P probably damaging Het
Zfyve9 C A 4: 108,575,360 (GRCm39) D574Y probably damaging Het
Other mutations in Rtn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00973:Rtn1 APN 12 72,455,285 (GRCm39) missense probably benign 0.18
IGL01335:Rtn1 APN 12 72,355,124 (GRCm39) missense probably benign
IGL01394:Rtn1 APN 12 72,355,190 (GRCm39) missense probably benign 0.00
IGL01551:Rtn1 APN 12 72,263,709 (GRCm39) missense possibly damaging 0.63
IGL01865:Rtn1 APN 12 72,266,074 (GRCm39) missense probably damaging 1.00
IGL02585:Rtn1 APN 12 72,354,929 (GRCm39) critical splice donor site probably null
PIT4802001:Rtn1 UTSW 12 72,351,100 (GRCm39) missense probably benign 0.21
R0866:Rtn1 UTSW 12 72,355,156 (GRCm39) nonsense probably null
R1099:Rtn1 UTSW 12 72,351,241 (GRCm39) splice site probably null
R1438:Rtn1 UTSW 12 72,351,187 (GRCm39) missense probably damaging 0.98
R1610:Rtn1 UTSW 12 72,266,053 (GRCm39) missense possibly damaging 0.90
R1694:Rtn1 UTSW 12 72,270,298 (GRCm39) missense probably damaging 1.00
R1869:Rtn1 UTSW 12 72,354,942 (GRCm39) missense probably damaging 1.00
R1888:Rtn1 UTSW 12 72,283,307 (GRCm39) intron probably benign
R1889:Rtn1 UTSW 12 72,351,184 (GRCm39) missense possibly damaging 0.87
R1892:Rtn1 UTSW 12 72,259,337 (GRCm39) missense probably damaging 1.00
R2418:Rtn1 UTSW 12 72,351,052 (GRCm39) missense probably benign
R2760:Rtn1 UTSW 12 72,455,136 (GRCm39) missense probably benign 0.00
R2973:Rtn1 UTSW 12 72,270,163 (GRCm39) missense probably damaging 1.00
R4567:Rtn1 UTSW 12 72,259,261 (GRCm39) utr 3 prime probably benign
R4880:Rtn1 UTSW 12 72,264,232 (GRCm39) missense possibly damaging 0.88
R4945:Rtn1 UTSW 12 72,264,258 (GRCm39) missense probably damaging 1.00
R6183:Rtn1 UTSW 12 72,455,265 (GRCm39) missense probably benign 0.09
R6493:Rtn1 UTSW 12 72,355,103 (GRCm39) missense probably damaging 0.99
R6547:Rtn1 UTSW 12 72,355,535 (GRCm39) missense possibly damaging 0.59
R6602:Rtn1 UTSW 12 72,266,092 (GRCm39) missense probably damaging 0.99
R7474:Rtn1 UTSW 12 72,355,164 (GRCm39) missense possibly damaging 0.87
R7615:Rtn1 UTSW 12 72,350,917 (GRCm39) missense probably damaging 1.00
R7697:Rtn1 UTSW 12 72,455,151 (GRCm39) missense probably benign 0.32
R7748:Rtn1 UTSW 12 72,263,700 (GRCm39) missense possibly damaging 0.53
R7754:Rtn1 UTSW 12 72,355,203 (GRCm39) missense probably damaging 0.96
R7834:Rtn1 UTSW 12 72,350,806 (GRCm39) missense probably damaging 0.99
R7970:Rtn1 UTSW 12 72,355,648 (GRCm39) missense probably benign 0.06
R8290:Rtn1 UTSW 12 72,355,193 (GRCm39) missense probably benign 0.07
R8311:Rtn1 UTSW 12 72,350,838 (GRCm39) missense probably damaging 1.00
R8440:Rtn1 UTSW 12 72,270,173 (GRCm39) missense probably damaging 1.00
R9393:Rtn1 UTSW 12 72,263,586 (GRCm39) nonsense probably null
R9579:Rtn1 UTSW 12 72,270,289 (GRCm39) missense probably damaging 0.99
R9632:Rtn1 UTSW 12 72,350,961 (GRCm39) missense probably damaging 1.00
Z1177:Rtn1 UTSW 12 72,355,638 (GRCm39) missense probably benign 0.05
Posted On 2013-01-20