Incidental Mutation 'R6989:Rtn3'
ID 543178
Institutional Source Beutler Lab
Gene Symbol Rtn3
Ensembl Gene ENSMUSG00000024758
Gene Name reticulon 3
Synonyms
MMRRC Submission 045095-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R6989 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 7403266-7460646 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7433856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 712 (F712S)
Ref Sequence ENSEMBL: ENSMUSP00000065810 (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: F712S

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000065810
Gene: ENSMUSG00000024758
AA Change: F712S

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: F693S

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000085496
Gene: ENSMUSG00000024758
AA Change: F693S

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.4%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik C T 11: 3,840,076 (GRCm39) R107H probably damaging Het
4930438A08Rik T C 11: 58,178,228 (GRCm39) V96A possibly damaging Het
Abcc2 A G 19: 43,820,611 (GRCm39) D1370G probably damaging Het
Abcc9 T A 6: 142,634,707 (GRCm39) N186Y probably damaging Het
Adcy7 T C 8: 89,035,414 (GRCm39) V106A probably benign Het
Adgra3 A G 5: 50,164,226 (GRCm39) F251S probably damaging Het
Akr1c6 T A 13: 4,499,045 (GRCm39) I33N probably damaging Het
Alk A C 17: 72,204,947 (GRCm39) M1075R probably benign Het
Amh A G 10: 80,641,338 (GRCm39) Q86R probably benign Het
Aox1 T C 1: 58,124,611 (GRCm39) Y951H probably damaging Het
Arhgap26 G T 18: 39,232,682 (GRCm39) R119L probably damaging Het
Arl8a A G 1: 135,074,735 (GRCm39) K7R probably benign Het
Birc6 T G 17: 74,937,984 (GRCm39) S2638A probably benign Het
Ccdc162 T G 10: 41,457,349 (GRCm39) Q256H probably damaging Het
Cenpe T A 3: 134,940,888 (GRCm39) L679Q probably damaging Het
Cpa5 T A 6: 30,625,891 (GRCm39) H203Q probably benign Het
Cpne9 A T 6: 113,277,544 (GRCm39) D421V possibly damaging Het
Cux1 A T 5: 136,308,502 (GRCm39) C1212* probably null Het
Dock9 G A 14: 121,864,791 (GRCm39) H736Y probably damaging Het
Dpp3 A T 19: 4,971,195 (GRCm39) V214E probably damaging Het
Dtx3 T C 10: 127,028,746 (GRCm39) E161G probably benign Het
Ect2 A T 3: 27,156,637 (GRCm39) Y774* probably null Het
Enpep G T 3: 129,074,599 (GRCm39) P717H probably damaging Het
Erich3 A T 3: 154,469,314 (GRCm39) probably benign Het
Fbp2 C T 13: 63,005,991 (GRCm39) A41T probably damaging Het
Fbxl21 T C 13: 56,674,874 (GRCm39) V75A probably damaging Het
Fkbp5 C T 17: 28,634,919 (GRCm39) D197N probably benign Het
Fsip2 A G 2: 82,807,298 (GRCm39) T1206A probably benign Het
Ggt7 A G 2: 155,345,380 (GRCm39) V156A probably benign Het
Gpi1 T C 7: 33,901,945 (GRCm39) K156R probably damaging Het
Gpx5 T C 13: 21,471,669 (GRCm39) D178G probably damaging Het
Grm7 G A 6: 111,184,766 (GRCm39) E366K probably damaging Het
Haao T C 17: 84,139,103 (GRCm39) Q277R probably damaging Het
Lama1 T C 17: 68,060,753 (GRCm39) S694P Het
Lrp10 A G 14: 54,705,950 (GRCm39) D380G probably benign Het
Lrp2 C A 2: 69,302,799 (GRCm39) D2977Y probably damaging Het
Map2 T A 1: 66,454,065 (GRCm39) M985K probably benign Het
Met C A 6: 17,535,927 (GRCm39) N784K possibly damaging Het
Met T A 6: 17,535,928 (GRCm39) Y65N probably damaging Het
Muc6 T G 7: 141,226,246 (GRCm39) probably benign Het
Numbl T A 7: 26,980,265 (GRCm39) W416R probably damaging Het
Nup160 G A 2: 90,537,364 (GRCm39) S746N probably benign Het
Pcca G A 14: 122,887,700 (GRCm39) G102D probably damaging Het
Pira13 T A 7: 3,825,163 (GRCm39) Y493F possibly damaging Het
Psmc2 T A 5: 22,006,217 (GRCm39) F243L possibly damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rpn1 G T 6: 88,076,285 (GRCm39) V357L probably benign Het
Scgb1b10 T A 7: 31,800,574 (GRCm39) D54E probably benign Het
Scn5a A G 9: 119,315,395 (GRCm39) I1771T probably damaging Het
Sec14l1 A G 11: 117,047,220 (GRCm39) I633V probably damaging Het
Slc17a6 T C 7: 51,311,224 (GRCm39) Y313H possibly damaging Het
Slc18a1 G A 8: 69,491,514 (GRCm39) T500I probably benign Het
Slx4 G A 16: 3,813,702 (GRCm39) A93V probably damaging Het
Stat4 T C 1: 52,107,974 (GRCm39) S148P probably benign Het
Tbc1d15 A T 10: 115,045,474 (GRCm39) C497S probably damaging Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Trav3-3 C A 14: 53,903,802 (GRCm39) P40Q possibly damaging Het
Trpv6 A T 6: 41,602,390 (GRCm39) L332Q probably damaging Het
Ube2t T G 1: 134,897,033 (GRCm39) V55G probably damaging Het
Ufm1 T C 3: 53,765,402 (GRCm39) K69E probably damaging Het
Utp20 T C 10: 88,614,102 (GRCm39) D1284G probably benign Het
Vil1 C T 1: 74,463,113 (GRCm39) T432I probably damaging Het
Vps13b T A 15: 35,448,727 (GRCm39) I567K probably benign Het
Zfp236 A T 18: 82,646,488 (GRCm39) V1023D probably damaging Het
Zfp429 A G 13: 67,538,080 (GRCm39) Y455H probably benign 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
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
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'- CCTGGGAAATCACTGAGAAGTC -3'
(R):5'- GCATGAAAGTGAGCTAAGTGGTTC -3'

Sequencing Primer
(F):5'- TCACTGAGAAGTCTTGCTAGAAC -3'
(R):5'- GTGAGCTAAGTGGTTCTGAAAC -3'
Posted On 2018-11-28