Incidental Mutation 'R1735:Rtn3'
ID 199689
Institutional Source Beutler Lab
Gene Symbol Rtn3
Ensembl Gene ENSMUSG00000024758
Gene Name reticulon 3
Synonyms
MMRRC Submission 039767-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R1735 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 7403266-7460646 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 7435276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 220 (I220V)
Ref Sequence ENSEMBL: ENSMUSP00000085496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025667] [ENSMUST00000065304] [ENSMUST00000088169] [ENSMUST00000088171]
AlphaFold Q9ES97
Predicted Effect probably benign
Transcript: ENSMUST00000025667
SMART Domains Protein: ENSMUSP00000025667
Gene: ENSMUSG00000024758

DomainStartEndE-ValueType
low complexity region 4 40 N/A INTRINSIC
Pfam:Reticulon 49 219 8.7e-58 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000065304
AA Change: I239V

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000065810
Gene: ENSMUSG00000024758
AA Change: I239V

DomainStartEndE-ValueType
low complexity region 4 40 N/A INTRINSIC
low complexity region 42 66 N/A INTRINSIC
low complexity region 80 91 N/A INTRINSIC
low complexity region 119 131 N/A INTRINSIC
low complexity region 516 527 N/A INTRINSIC
low complexity region 639 650 N/A INTRINSIC
Pfam:Reticulon 776 940 9.1e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000088169
SMART Domains Protein: ENSMUSP00000085494
Gene: ENSMUSG00000024758

DomainStartEndE-ValueType
low complexity region 4 40 N/A INTRINSIC
low complexity region 42 66 N/A INTRINSIC
Pfam:Reticulon 68 238 1.1e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000088171
AA Change: I220V

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000085496
Gene: ENSMUSG00000024758
AA Change: I220V

DomainStartEndE-ValueType
low complexity region 4 56 N/A INTRINSIC
low complexity region 61 72 N/A INTRINSIC
low complexity region 100 112 N/A INTRINSIC
low complexity region 497 508 N/A INTRINSIC
low complexity region 620 631 N/A INTRINSIC
Pfam:Reticulon 757 927 1.8e-56 PFAM
Coding Region Coverage
  • 1x: 97.6%
  • 3x: 97.0%
  • 10x: 95.3%
  • 20x: 92.1%
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 reticulon family of highly conserved genes that are preferentially expressed in neuroendocrine tissues. This family of proteins interact with, and modulate the activity of beta-amyloid converting enzyme 1 (BACE1), and the production of amyloid-beta. An increase in the expression of any reticulon protein substantially reduces the production of amyloid-beta, suggesting that reticulon proteins are negative modulators of BACE1 in cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, and pseudogenes of this gene are located on chromosomes 4 and 12. [provided by RefSeq, May 2012]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot5 A T 12: 84,122,261 (GRCm39) I282F probably benign Het
Adam19 C A 11: 46,029,744 (GRCm39) Q730K probably benign Het
Adgrv1 A G 13: 81,636,066 (GRCm39) V3481A possibly damaging Het
Akr1c20 T C 13: 4,537,207 (GRCm39) D316G probably benign Het
Ap3b1 G A 13: 94,630,225 (GRCm39) V827I unknown Het
Aph1a T A 3: 95,802,821 (GRCm39) D140E probably damaging Het
Arhgef19 G T 4: 140,976,929 (GRCm39) V502L possibly damaging Het
Arl9 T C 5: 77,154,473 (GRCm39) F67S probably damaging Het
B430305J03Rik G A 3: 61,271,361 (GRCm39) probably benign Het
B4galnt2 A G 11: 95,781,809 (GRCm39) F119L probably damaging Het
Bcap29 T A 12: 31,680,839 (GRCm39) N49I probably damaging Het
Capn11 T A 17: 45,943,327 (GRCm39) K616* probably null Het
Cdh12 T A 15: 21,520,452 (GRCm39) Y306N probably damaging Het
Cep350 T A 1: 155,828,960 (GRCm39) N315Y probably damaging Het
Cfap300 A C 9: 8,027,266 (GRCm39) S91A probably benign Het
Cited2 C A 10: 17,599,794 (GRCm39) P34Q probably damaging Het
Cmya5 A T 13: 93,226,297 (GRCm39) D2930E probably benign Het
Cog3 T A 14: 75,966,761 (GRCm39) K470* probably null Het
Commd10 A G 18: 47,123,552 (GRCm39) T136A probably benign Het
Csf2ra C A 19: 61,214,782 (GRCm39) D181Y probably damaging Het
Csmd1 T A 8: 15,982,610 (GRCm39) I2686F probably damaging Het
Dhx29 T C 13: 113,081,620 (GRCm39) S415P probably benign Het
Dsel A T 1: 111,788,645 (GRCm39) F630Y probably damaging Het
Ell T A 8: 71,031,590 (GRCm39) I96N possibly damaging Het
Ephx2 T A 14: 66,325,752 (GRCm39) I358L probably benign Het
Fam162b A G 10: 51,463,307 (GRCm39) I120T probably damaging Het
Fam187a T C 11: 102,776,606 (GRCm39) Y137H probably damaging Het
Fastk T C 5: 24,646,801 (GRCm39) E403G probably damaging Het
Fcrlb C A 1: 170,734,901 (GRCm39) V409F probably benign Het
Flot2 G T 11: 77,948,831 (GRCm39) A269S probably benign Het
Gpd2 T A 2: 57,245,563 (GRCm39) N419K probably damaging Het
Hecw1 A T 13: 14,552,350 (GRCm39) M61K probably null Het
Htr2a T C 14: 74,943,568 (GRCm39) F383L probably damaging Het
Kctd6 C T 14: 8,222,253 (GRCm38) R32C probably damaging Het
Khdc1a A G 1: 21,421,189 (GRCm39) T125A probably benign Het
Klhl40 T C 9: 121,609,004 (GRCm39) S390P probably benign Het
Lonp1 G A 17: 56,921,956 (GRCm39) T808I probably damaging Het
Loxhd1 A C 18: 77,492,585 (GRCm39) D1342A probably damaging Het
Lrat T C 3: 82,804,417 (GRCm39) I187V probably benign Het
Lrif1 T C 3: 106,643,162 (GRCm39) *238Q probably null Het
Lrp2bp T C 8: 46,465,025 (GRCm39) F48S probably benign Het
Mafg A G 11: 120,520,504 (GRCm39) M32T possibly damaging Het
Map4 C T 9: 109,864,023 (GRCm39) T416I probably benign Het
N4bp2 T C 5: 65,965,659 (GRCm39) F1236S probably damaging Het
Nfatc3 A G 8: 106,810,466 (GRCm39) D414G probably damaging Het
Nhsl3 G T 4: 129,117,370 (GRCm39) S476R probably damaging Het
Nrip2 T G 6: 128,382,037 (GRCm39) V50G probably damaging Het
Or10aa3 A T 1: 173,878,365 (GRCm39) K142I probably benign Het
Or10j5 A G 1: 172,784,374 (GRCm39) N4S probably benign Het
Or52ae7 T A 7: 103,119,353 (GRCm39) F36I possibly damaging Het
Or5b24 T A 19: 12,912,207 (GRCm39) I35N probably damaging Het
Pcdhb18 A T 18: 37,623,822 (GRCm39) H384L probably benign Het
Pik3r1 A T 13: 101,822,882 (GRCm39) Y607N probably damaging Het
Plagl2 G A 2: 153,074,397 (GRCm39) T168I probably damaging Het
Polr2a A G 11: 69,633,222 (GRCm39) S912P probably damaging Het
Ppp1r16b A G 2: 158,603,415 (GRCm39) K447E possibly damaging Het
Prkd1 T C 12: 50,388,822 (GRCm39) E907G possibly damaging Het
Rabep2 A G 7: 126,043,712 (GRCm39) R470G probably damaging Het
Rasal2 T C 1: 157,001,730 (GRCm39) Y518C probably damaging Het
Rbmxl1 A G 8: 79,232,711 (GRCm39) Y211H probably damaging Het
Rdh7 T C 10: 127,720,454 (GRCm39) Y306C probably benign Het
Scn8a A G 15: 100,913,742 (GRCm39) N1045D possibly damaging Het
Scube1 T C 15: 83,491,638 (GRCm39) H952R probably damaging Het
Sf3b1 A G 1: 55,039,811 (GRCm39) I690T probably damaging Het
Sharpin T C 15: 76,232,136 (GRCm39) K240R probably benign Het
Skint5 A G 4: 113,420,656 (GRCm39) I1108T unknown Het
Snip1 A G 4: 124,964,994 (GRCm39) D133G probably benign Het
St3gal3 T C 4: 117,871,971 (GRCm39) Y77C probably damaging Het
Sytl3 T C 17: 6,982,880 (GRCm39) V112A probably benign Het
Tnxb C T 17: 34,936,944 (GRCm39) P3718S probably damaging Het
Ttc24 A T 3: 87,980,401 (GRCm39) probably null Het
Ubr3 A T 2: 69,839,473 (GRCm39) E1529V probably damaging Het
Utrn T A 10: 12,585,882 (GRCm39) H965L probably benign Het
Xrn2 T A 2: 146,903,343 (GRCm39) L781Q probably damaging Het
Zbtb11 T C 16: 55,811,045 (GRCm39) I401T probably benign Het
Zc3h14 C T 12: 98,724,839 (GRCm39) P167L probably damaging Het
Zfp609 G T 9: 65,610,374 (GRCm39) S863* probably null Het
Other mutations in Rtn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00791:Rtn3 APN 19 7,412,434 (GRCm39) missense probably damaging 1.00
IGL01025:Rtn3 APN 19 7,460,406 (GRCm39) missense unknown
IGL01347:Rtn3 APN 19 7,434,645 (GRCm39) missense probably benign 0.01
IGL01845:Rtn3 APN 19 7,435,241 (GRCm39) missense probably damaging 1.00
IGL02217:Rtn3 APN 19 7,412,449 (GRCm39) missense probably damaging 0.99
IGL03024:Rtn3 APN 19 7,460,455 (GRCm39) utr 5 prime probably benign
R0399:Rtn3 UTSW 19 7,435,241 (GRCm39) missense probably damaging 1.00
R0633:Rtn3 UTSW 19 7,434,958 (GRCm39) missense probably benign 0.03
R0826:Rtn3 UTSW 19 7,445,245 (GRCm39) intron probably benign
R1327:Rtn3 UTSW 19 7,408,376 (GRCm39) missense possibly damaging 0.81
R2093:Rtn3 UTSW 19 7,434,215 (GRCm39) missense probably damaging 1.00
R3116:Rtn3 UTSW 19 7,409,355 (GRCm39) missense probably damaging 1.00
R3894:Rtn3 UTSW 19 7,412,450 (GRCm39) missense probably damaging 1.00
R3961:Rtn3 UTSW 19 7,435,510 (GRCm39) missense probably damaging 0.99
R3962:Rtn3 UTSW 19 7,435,510 (GRCm39) missense probably damaging 0.99
R3963:Rtn3 UTSW 19 7,435,510 (GRCm39) missense probably damaging 0.99
R4161:Rtn3 UTSW 19 7,460,444 (GRCm39) missense probably benign 0.38
R4960:Rtn3 UTSW 19 7,433,886 (GRCm39) missense probably damaging 1.00
R5585:Rtn3 UTSW 19 7,435,560 (GRCm39) missense probably benign 0.12
R5735:Rtn3 UTSW 19 7,434,057 (GRCm39) missense probably damaging 0.99
R5796:Rtn3 UTSW 19 7,434,832 (GRCm39) missense possibly damaging 0.48
R5807:Rtn3 UTSW 19 7,434,192 (GRCm39) missense probably damaging 1.00
R5864:Rtn3 UTSW 19 7,412,476 (GRCm39) missense probably damaging 1.00
R6322:Rtn3 UTSW 19 7,435,503 (GRCm39) missense possibly damaging 0.60
R6703:Rtn3 UTSW 19 7,412,410 (GRCm39) missense probably damaging 1.00
R6885:Rtn3 UTSW 19 7,435,696 (GRCm39) missense probably benign 0.31
R6888:Rtn3 UTSW 19 7,434,614 (GRCm39) missense probably benign 0.00
R6989:Rtn3 UTSW 19 7,433,856 (GRCm39) missense possibly damaging 0.95
R6992:Rtn3 UTSW 19 7,412,489 (GRCm39) missense probably damaging 1.00
R7506:Rtn3 UTSW 19 7,407,118 (GRCm39) missense probably benign 0.08
R7610:Rtn3 UTSW 19 7,435,294 (GRCm39) missense probably damaging 1.00
R7639:Rtn3 UTSW 19 7,435,356 (GRCm39) missense probably benign 0.01
R7909:Rtn3 UTSW 19 7,433,827 (GRCm39) missense possibly damaging 0.67
R7915:Rtn3 UTSW 19 7,434,865 (GRCm39) missense probably benign 0.06
R8088:Rtn3 UTSW 19 7,412,363 (GRCm39) missense probably damaging 1.00
R8549:Rtn3 UTSW 19 7,434,624 (GRCm39) missense probably benign 0.03
R8725:Rtn3 UTSW 19 7,434,726 (GRCm39) missense probably benign
R8727:Rtn3 UTSW 19 7,434,726 (GRCm39) missense probably benign
R8917:Rtn3 UTSW 19 7,434,105 (GRCm39) missense possibly damaging 0.78
R9225:Rtn3 UTSW 19 7,434,854 (GRCm39) missense probably damaging 1.00
R9336:Rtn3 UTSW 19 7,460,328 (GRCm39) missense unknown
X0060:Rtn3 UTSW 19 7,409,936 (GRCm39) missense possibly damaging 0.80
Z1192:Rtn3 UTSW 19 7,460,342 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCTACCGAGCAGTACAGAGGATGG -3'
(R):5'- AAAACTGGACTCACCTCAGGGGAC -3'

Sequencing Primer
(F):5'- AGGATGGGTAACGCCCTG -3'
(R):5'- TATTCCAGACAGTTTCCCAGAG -3'
Posted On 2014-05-23