Incidental Mutation 'R4880:Rtn1'
ID 375237
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 042489-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4880 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 72258526-72455828 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 72264232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 192 (V192I)
Ref Sequence ENSEMBL: ENSMUSP00000120033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021497] [ENSMUST00000078505] [ENSMUST00000137990]
AlphaFold Q8K0T0
Predicted Effect possibly damaging
Transcript: ENSMUST00000021497
AA Change: V147I

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000021497
Gene: ENSMUSG00000021087
AA Change: V147I

DomainStartEndE-ValueType
Pfam:Reticulon 21 191 1.2e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000078505
AA Change: V719I

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000077594
Gene: ENSMUSG00000021087
AA Change: V719I

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000137990
AA Change: V192I

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120033
Gene: ENSMUSG00000021087
AA Change: V192I

DomainStartEndE-ValueType
low complexity region 11 32 N/A INTRINSIC
low complexity region 38 50 N/A INTRINSIC
Pfam:Reticulon 66 236 2.3e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150156
Meta Mutation Damage Score 0.1274 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 98% (89/91)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,276,529 (GRCm39) I744T possibly damaging Het
Adgrb1 T A 15: 74,458,871 (GRCm39) F1324L possibly damaging Het
Adm A G 7: 110,228,326 (GRCm39) H230R probably benign Het
Ank2 A T 3: 126,840,475 (GRCm39) probably null Het
Arih1 A T 9: 59,344,168 (GRCm39) F156L possibly damaging Het
Atf6b A G 17: 34,873,529 (GRCm39) H660R probably damaging Het
Bcl9l C A 9: 44,420,007 (GRCm39) Q1101K probably benign Het
Ccdc174 G A 6: 91,876,572 (GRCm39) probably benign Het
Ccdc65 A C 15: 98,620,538 (GRCm39) probably null Het
Cela2a T C 4: 141,549,598 (GRCm39) N59S probably benign Het
Cfap157 A T 2: 32,668,261 (GRCm39) V393E probably damaging Het
Chd1 T C 17: 17,594,916 (GRCm39) F17S probably damaging Het
Cpne3 T C 4: 19,540,827 (GRCm39) I183V probably benign Het
Cyp2d11 C A 15: 82,276,306 (GRCm39) V122L probably benign Het
Dcaf8 C A 1: 172,015,056 (GRCm39) probably benign Het
Dchs1 T A 7: 105,404,937 (GRCm39) D2535V probably benign Het
Eif4a2 G T 16: 22,927,650 (GRCm39) probably benign Het
Fzd4 T A 7: 89,057,109 (GRCm39) D385E probably benign Het
Galnt13 C A 2: 54,950,584 (GRCm39) Q422K probably damaging Het
Gnptab C T 10: 88,268,413 (GRCm39) Q507* probably null Het
Hoxa7 A G 6: 52,194,014 (GRCm39) probably benign Het
Htra1 T A 7: 130,563,813 (GRCm39) V228D probably damaging Het
Idi2l A T 13: 8,990,702 (GRCm39) probably null Het
Ifi203 T A 1: 173,756,716 (GRCm39) probably benign Het
Iqca1l T C 5: 24,754,750 (GRCm39) D340G probably benign Het
Irs1 TGGGGTGGACATCGAACTGAAGGAG TG 1: 82,265,453 (GRCm39) 913 probably null Het
Itga2b G T 11: 102,348,548 (GRCm39) probably benign Het
Itgb1 G T 8: 129,442,631 (GRCm39) R272L probably damaging Het
Kif9 A G 9: 110,330,703 (GRCm39) E343G probably damaging Het
Klhl5 T C 5: 65,316,244 (GRCm39) V97A probably damaging Het
Lama5 C A 2: 179,818,861 (GRCm39) probably benign Het
Lamb2 A G 9: 108,361,226 (GRCm39) probably null Het
Lrp1b T A 2: 41,660,931 (GRCm39) Y59F probably benign Het
Mmrn1 A G 6: 60,953,423 (GRCm39) E568G probably benign Het
Mreg A G 1: 72,201,495 (GRCm39) Y166H probably damaging Het
Myh7 C A 14: 55,216,045 (GRCm39) V1323F probably benign Het
Nr1i3 T A 1: 171,043,951 (GRCm39) I91K probably damaging Het
Nsfl1c T A 2: 151,348,230 (GRCm39) D206E probably damaging Het
Or11g24 T C 14: 50,662,758 (GRCm39) Y261H possibly damaging Het
Or13c3 A T 4: 52,856,411 (GRCm39) M34K probably damaging Het
Or2ak5 G A 11: 58,611,107 (GRCm39) L256F probably benign Het
Or4k44 A T 2: 111,367,698 (GRCm39) L312* probably null Het
Or5k17 A C 16: 58,746,463 (GRCm39) L157W probably damaging Het
Or8b54 T A 9: 38,686,843 (GRCm39) C97* probably null Het
Pcdhb7 C T 18: 37,475,284 (GRCm39) T140I probably benign Het
Pcdhgb5 T G 18: 37,865,641 (GRCm39) S479A probably benign Het
Pcsk5 T A 19: 17,425,054 (GRCm39) Y1583F probably damaging Het
Pias1 T C 9: 62,820,080 (GRCm39) R296G probably benign Het
Plscr1l1 A G 9: 92,236,665 (GRCm39) E108G probably damaging Het
Polr1e T A 4: 45,022,280 (GRCm39) C100S probably damaging Het
Rpap1 C A 2: 119,614,346 (GRCm39) R17L probably damaging Het
Ryr2 G A 13: 11,767,104 (GRCm39) P1262L probably damaging Het
Slc4a7 G T 14: 14,757,342 (GRCm38) D396Y probably damaging Het
Slc5a8 T C 10: 88,727,886 (GRCm39) Y118H probably damaging Het
Slc7a6os T A 8: 106,937,247 (GRCm39) Q71L probably benign Het
Sphkap A G 1: 83,266,538 (GRCm39) V127A probably damaging Het
Srpk1 A G 17: 28,810,199 (GRCm39) S580P probably damaging Het
Syne2 A G 12: 76,026,593 (GRCm39) I3474V probably damaging Het
Tchh A G 3: 93,351,130 (GRCm39) D190G possibly damaging Het
Tenm4 T A 7: 96,555,025 (GRCm39) probably null Het
Tex14 T A 11: 87,377,121 (GRCm39) I155N possibly damaging Het
Tm7sf3 A T 6: 146,511,358 (GRCm39) V377E possibly damaging Het
Tnfsf9 T A 17: 57,412,433 (GRCm39) M1K probably null Het
Tns2 C T 15: 102,020,474 (GRCm39) T780I probably damaging Het
Trdn T A 10: 33,347,575 (GRCm39) D639E probably benign Het
Trmt10a A G 3: 137,857,972 (GRCm39) E173G possibly damaging Het
Ttn G A 2: 76,649,119 (GRCm39) P10984S possibly damaging Het
Tubb6 C T 18: 67,534,386 (GRCm39) T95M possibly damaging Het
Uroc1 G T 6: 90,334,519 (GRCm39) R577L probably damaging Het
Vmn2r86 T A 10: 130,289,484 (GRCm39) D137V probably benign Het
Xkr7 T C 2: 152,896,873 (GRCm39) Y576H probably damaging Het
Zfp410 A G 12: 84,384,449 (GRCm39) N355D probably damaging Het
Zfp59 C A 7: 27,543,742 (GRCm39) D22E probably damaging Het
Zfp64 C T 2: 168,736,297 (GRCm39) R460H probably damaging Het
Zfp655 T C 5: 145,181,168 (GRCm39) V342A probably damaging Het
Zfp990 G A 4: 145,264,490 (GRCm39) G496E probably benign 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
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
Predicted Primers PCR Primer
(F):5'- AGCAAATTTAGCGATGTGGTTG -3'
(R):5'- CCTGTCAAAACCATTTCCCAGG -3'

Sequencing Primer
(F):5'- AAAGTCCATTGTGAATTGGACTGTG -3'
(R):5'- GAATCCATTTCCTGTTGTGGC -3'
Posted On 2016-03-17