Incidental Mutation 'R6183:Rtn1'
ID 487633
Institutional Source Beutler Lab
Gene Symbol Rtn1
Ensembl Gene ENSMUSG00000021087
Gene Name reticulon 1
Synonyms Rtn1-c, 4930441F12Rik, Nsp, Rtn1-a, Rtn1-b, 0710005K15Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6183 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 72258526-72455828 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72455265 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 21 (W21R)
Ref Sequence ENSEMBL: ENSMUSP00000077594 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078505]
AlphaFold Q8K0T0
Predicted Effect probably benign
Transcript: ENSMUST00000078505
AA Change: W21R

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000077594
Gene: ENSMUSG00000021087
AA Change: W21R

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 94.0%
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. 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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T A 5: 8,968,718 (GRCm39) D352E probably benign Het
Adgrb3 T A 1: 25,133,451 (GRCm39) I972L probably damaging Het
Alg3 T C 16: 20,429,391 (GRCm39) Y33C probably benign Het
Atp1a3 C T 7: 24,681,177 (GRCm39) G816D probably damaging Het
Ccdc121 T C 5: 31,645,320 (GRCm39) Y358H probably damaging Het
Ces1g C T 8: 94,057,867 (GRCm39) V145M possibly damaging Het
Clip1 A G 5: 123,780,667 (GRCm39) S339P probably damaging Het
Col2a1 G T 15: 97,886,671 (GRCm39) T378N unknown Het
Dennd4b ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAGCAGCAGCAG 3: 90,182,875 (GRCm39) probably benign Het
Dnah12 T A 14: 26,583,726 (GRCm39) L3207Q probably damaging Het
Efcab5 T C 11: 77,028,084 (GRCm39) T416A probably benign Het
Ephb1 A T 9: 102,072,524 (GRCm39) I85N probably damaging Het
Etnppl T C 3: 130,413,966 (GRCm39) C22R probably damaging Het
F830016B08Rik A G 18: 60,432,949 (GRCm39) T11A probably benign Het
Gm5458 C A 14: 19,649,712 (GRCm39) V171L probably damaging Het
Helb G T 10: 119,948,903 (GRCm39) probably null Het
Hnrnpll A G 17: 80,357,305 (GRCm39) V237A possibly damaging Het
Hps3 T C 3: 20,063,032 (GRCm39) T712A probably benign Het
Ibsp A G 5: 104,453,896 (GRCm39) E78G possibly damaging Het
Ighv1-62-2 G A 12: 115,410,056 (GRCm39) A111V probably damaging Het
Igkv4-63 G T 6: 69,355,108 (GRCm39) Q58K probably damaging Het
Iqcg T C 16: 32,851,293 (GRCm39) Y226C probably damaging Het
Khdc1a A T 1: 21,420,332 (GRCm39) D30V possibly damaging Het
Krtap5-5 C A 7: 141,783,524 (GRCm39) C42F unknown Het
Lmod3 T C 6: 97,229,514 (GRCm39) N7D probably damaging Het
Lvrn A G 18: 46,983,752 (GRCm39) N165S probably benign Het
Ms4a4c A G 19: 11,403,593 (GRCm39) T192A possibly damaging Het
Ncald A T 15: 37,397,476 (GRCm39) V68D probably damaging Het
Or4e5 T A 14: 52,728,188 (GRCm39) T78S probably benign Het
Pcdhgb7 A T 18: 37,885,315 (GRCm39) I162F probably damaging Het
Prokr1 T C 6: 87,565,834 (GRCm39) T4A possibly damaging Het
Qrich2 T A 11: 116,348,955 (GRCm39) probably benign Het
Rgl1 C T 1: 152,462,321 (GRCm39) E60K possibly damaging Het
Scart2 A G 7: 139,875,947 (GRCm39) T404A possibly damaging Het
Spast A G 17: 74,680,353 (GRCm39) I438M probably damaging Het
Sptbn5 C T 2: 119,889,898 (GRCm39) probably benign Het
Sry C G Y: 2,662,975 (GRCm39) Q228H unknown Het
Tas1r1 A G 4: 152,116,998 (GRCm39) I212T probably damaging Het
Tbc1d1 A G 5: 64,432,768 (GRCm39) N439D probably damaging Het
Tjp2 C T 19: 24,078,155 (GRCm39) A913T probably damaging Het
Tnfrsf26 A G 7: 143,165,494 (GRCm39) L47P probably damaging Het
Unc13a A T 8: 72,097,310 (GRCm39) S1195T probably damaging Het
Usp54 T C 14: 20,602,313 (GRCm39) R1346G probably damaging Het
Vmn1r54 T A 6: 90,246,272 (GRCm39) M62K possibly damaging Het
Vmn2r125 A T 4: 156,702,364 (GRCm39) D50V probably damaging Het
Vmn2r66 T C 7: 84,644,766 (GRCm39) D548G possibly damaging Het
Vmn2r95 T A 17: 18,664,192 (GRCm39) N470K probably damaging Het
Zc3h7a A T 16: 10,965,234 (GRCm39) I633N possibly 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
R0104:Rtn1 UTSW 12 72,355,619 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- ACCTGTGGATGCAGTTTCCATG -3'
(R):5'- CGAGTTGCAGCAAAAGCAGC -3'

Sequencing Primer
(F):5'- ATGCAGTTTCCATGGCGAC -3'
(R):5'- AGACTCTGCAGCCTTCTGG -3'
Posted On 2017-10-10