Incidental Mutation 'IGL01347:Rtn3'
ID 75086
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rtn3
Ensembl Gene ENSMUSG00000024758
Gene Name reticulon 3
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # IGL01347
Quality Score
Status
Chromosome 19
Chromosomal Location 7403266-7460646 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 7434645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 430 (N430S)
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 probably benign
Transcript: ENSMUST00000065304
AA Change: N449S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000065810
Gene: ENSMUSG00000024758
AA Change: N449S

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 benign
Transcript: ENSMUST00000088171
AA Change: N430S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000085496
Gene: ENSMUSG00000024758
AA Change: N430S

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
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l2 A T 6: 48,909,477 (GRCm39) Y574F probably benign Het
Apc C T 18: 34,450,723 (GRCm39) P2506S probably damaging Het
Bdp1 T A 13: 100,206,711 (GRCm39) K610N possibly damaging Het
Bri3bp T G 5: 125,531,581 (GRCm39) C176G probably damaging Het
Carnmt1 A G 19: 18,668,818 (GRCm39) I248V probably benign Het
Ccdc88b A G 19: 6,822,454 (GRCm39) L1475P probably damaging Het
Cfap100 C T 6: 90,383,103 (GRCm39) V511M possibly damaging Het
Chchd3 T C 6: 32,780,838 (GRCm39) N78S probably benign Het
Cnnm4 G A 1: 36,537,115 (GRCm39) E480K possibly damaging Het
Cyp2d34 T A 15: 82,500,978 (GRCm39) I385F possibly damaging Het
D930048N14Rik T A 11: 51,545,615 (GRCm39) probably benign Het
Dgkg A T 16: 22,419,340 (GRCm39) D53E probably benign Het
Dlx3 T A 11: 95,011,359 (GRCm39) L71H probably damaging Het
Egln2 A C 7: 26,859,717 (GRCm39) V332G probably null Het
Entpd2 A G 2: 25,288,746 (GRCm39) Q250R probably benign Het
Epyc A G 10: 97,510,593 (GRCm39) D132G probably damaging Het
Fxr2 A G 11: 69,543,114 (GRCm39) D637G probably benign Het
Gapvd1 A G 2: 34,596,708 (GRCm39) probably null Het
Gbp11 G A 5: 105,479,194 (GRCm39) probably benign Het
Gm17175 A T 14: 51,808,307 (GRCm39) C162S probably damaging Het
Gm5499 C T 17: 87,386,339 (GRCm39) noncoding transcript Het
Gps1 T C 11: 120,679,086 (GRCm39) V378A probably benign Het
Grik1 C T 16: 87,754,481 (GRCm39) R368Q probably benign Het
Gsap A G 5: 21,431,318 (GRCm39) E214G probably benign Het
H2bc13 A G 13: 21,900,064 (GRCm39) Y84H probably damaging Het
Jdp2 T C 12: 85,655,020 (GRCm39) S28P probably benign Het
Kif26b T C 1: 178,698,240 (GRCm39) F577S probably damaging Het
Kl G A 5: 150,904,130 (GRCm39) G294D probably damaging Het
Lgsn T A 1: 31,243,041 (GRCm39) D374E probably damaging Het
Lman1 T C 18: 66,124,681 (GRCm39) I353V probably damaging Het
Lmna T C 3: 88,392,270 (GRCm39) H374R probably benign Het
Lrrc57 A G 2: 120,439,286 (GRCm39) S31P probably benign Het
Lum T A 10: 97,404,547 (GRCm39) N147K probably damaging Het
Or6n2 T C 1: 173,897,632 (GRCm39) I256T probably benign Het
Or7a41 A G 10: 78,871,445 (GRCm39) T272A probably benign Het
P4ha3 C A 7: 99,955,140 (GRCm39) L332I probably damaging Het
Pelp1 A G 11: 70,286,505 (GRCm39) I541T probably damaging Het
Pja2 A C 17: 64,620,023 (GRCm39) S2A probably benign Het
Rhbdl3 T C 11: 80,244,268 (GRCm39) L325P probably damaging Het
Robo2 T C 16: 74,149,744 (GRCm39) D28G probably damaging Het
Rpa1 A G 11: 75,198,111 (GRCm39) Y470H probably damaging Het
Scg2 T A 1: 79,414,538 (GRCm39) I62L probably benign Het
Scn5a T A 9: 119,391,507 (GRCm39) K62* probably null Het
Sec23ip T C 7: 128,364,129 (GRCm39) V469A probably benign Het
Shank1 A G 7: 43,991,544 (GRCm39) T663A unknown Het
Slco1a7 A T 6: 141,700,192 (GRCm39) Y113* probably null Het
Stab2 G T 10: 86,737,567 (GRCm39) probably null Het
Tmcc3 T C 10: 94,418,147 (GRCm39) L305P probably damaging Het
Tmem145 A G 7: 25,014,260 (GRCm39) N458S probably damaging Het
Tpr G A 1: 150,302,738 (GRCm39) R1412Q probably damaging Het
Wdr1 A T 5: 38,703,058 (GRCm39) F173I possibly damaging Het
Wdr17 C T 8: 55,104,380 (GRCm39) V898I probably benign Het
Wdr64 A T 1: 175,547,899 (GRCm39) L145F probably benign Het
Wnt10b A G 15: 98,674,826 (GRCm39) probably benign Het
Zfyve26 A T 12: 79,298,957 (GRCm39) 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
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
R1735:Rtn3 UTSW 19 7,435,276 (GRCm39) missense probably damaging 0.96
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
Posted On 2013-10-07