Incidental Mutation 'R5791:Retreg3'
ID 446989
Institutional Source Beutler Lab
Gene Symbol Retreg3
Ensembl Gene ENSMUSG00000017802
Gene Name reticulophagy regulator family member 3
Synonyms 4933404C01Rik, Fam134c, 1300010M03Rik
MMRRC Submission 043207-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5791 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 100987148-101010719 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100991769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 55 (S55P)
Ref Sequence ENSEMBL: ENSMUSP00000102916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017946] [ENSMUST00000107295]
AlphaFold Q9CQV4
Predicted Effect probably damaging
Transcript: ENSMUST00000017946
AA Change: S236P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000017946
Gene: ENSMUSG00000017802
AA Change: S236P

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
transmembrane domain 79 101 N/A INTRINSIC
transmembrane domain 186 208 N/A INTRINSIC
low complexity region 376 397 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107295
AA Change: S55P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102916
Gene: ENSMUSG00000017802
AA Change: S55P

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
low complexity region 195 216 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142733
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147201
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154513
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 G C 8: 41,207,257 (GRCm39) Q174H probably benign Het
Adipor2 A T 6: 119,338,866 (GRCm39) M129K possibly damaging Het
Arhgap29 T A 3: 121,807,894 (GRCm39) M616K probably damaging Het
Calcrl A T 2: 84,181,609 (GRCm39) F180I probably damaging Het
Cdh4 T C 2: 179,537,560 (GRCm39) V864A probably damaging Het
Cep78 A G 19: 15,938,436 (GRCm39) F504S probably benign Het
Coasy A G 11: 100,975,211 (GRCm39) probably null Het
Dnah3 T C 7: 119,530,696 (GRCm39) N751S probably benign Het
Ecpas C T 4: 58,814,027 (GRCm39) E1360K possibly damaging Het
Ecpas T A 4: 58,822,111 (GRCm39) D1152V probably damaging Het
Eea1 T A 10: 95,855,857 (GRCm39) N631K probably benign Het
Fam149b A G 14: 20,401,394 (GRCm39) K27R probably damaging Het
Fbxw26 A G 9: 109,574,221 (GRCm39) W42R probably damaging Het
Gas6 A G 8: 13,520,217 (GRCm39) probably null Het
Gfral C T 9: 76,104,328 (GRCm39) R228Q probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gmppa T C 1: 75,418,899 (GRCm39) V324A possibly damaging Het
Gstm2 C T 3: 107,891,444 (GRCm39) probably null Het
Kcng3 A G 17: 83,895,639 (GRCm39) S276P probably benign Het
Lrrd1 T C 5: 3,901,254 (GRCm39) S520P probably benign Het
Lrrn2 A G 1: 132,865,505 (GRCm39) N190S probably benign Het
Lrwd1 G C 5: 136,159,887 (GRCm39) A392G probably benign Het
Mab21l2 A G 3: 86,454,044 (GRCm39) Y319H probably damaging Het
Ndufv3 A G 17: 31,746,382 (GRCm39) N91D probably benign Het
Nfatc2 T A 2: 168,378,313 (GRCm39) M451L probably benign Het
Or10g9b A T 9: 39,918,030 (GRCm39) S72T probably damaging Het
Pcdhgb2 G T 18: 37,825,393 (GRCm39) V795F possibly damaging Het
Pdcd11 T A 19: 47,099,430 (GRCm39) M843K possibly damaging Het
Pla2g4c T A 7: 13,073,617 (GRCm39) N221K probably benign Het
Ppox T C 1: 171,104,885 (GRCm39) Y422C probably damaging Het
Rnf103 C A 6: 71,485,909 (GRCm39) T180K probably damaging Het
Tbl3 A T 17: 24,923,408 (GRCm39) L307H probably damaging Het
Tex26 A T 5: 149,363,240 (GRCm39) probably null Het
Tln2 A T 9: 67,293,887 (GRCm39) I247K probably damaging Het
Txlnb T C 10: 17,674,876 (GRCm39) S10P probably benign Het
Vwde C A 6: 13,195,985 (GRCm39) E347* probably null Het
Wasf1 G A 10: 40,802,570 (GRCm39) R75Q probably damaging Het
Zfp14 A G 7: 29,737,687 (GRCm39) S433P probably damaging Het
Zfp647 G T 15: 76,802,206 (GRCm39) A2E unknown Het
Other mutations in Retreg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Retreg3 APN 11 100,991,751 (GRCm39) nonsense probably null
IGL02547:Retreg3 APN 11 100,997,204 (GRCm39) nonsense probably null
IGL03160:Retreg3 APN 11 100,990,501 (GRCm39) missense probably benign 0.03
IGL03405:Retreg3 APN 11 100,991,795 (GRCm39) missense probably damaging 1.00
R0646:Retreg3 UTSW 11 100,989,455 (GRCm39) unclassified probably benign
R1625:Retreg3 UTSW 11 100,992,875 (GRCm39) start codon destroyed probably null
R2215:Retreg3 UTSW 11 101,010,459 (GRCm39) nonsense probably null
R4361:Retreg3 UTSW 11 100,994,713 (GRCm39) splice site probably null
R5586:Retreg3 UTSW 11 100,997,165 (GRCm39) missense probably damaging 1.00
R6026:Retreg3 UTSW 11 100,997,226 (GRCm39) missense probably damaging 0.99
R6179:Retreg3 UTSW 11 100,994,721 (GRCm39) start gained probably benign
R6209:Retreg3 UTSW 11 101,010,526 (GRCm39) missense probably benign 0.27
R6869:Retreg3 UTSW 11 101,010,644 (GRCm39) start gained probably benign
R7553:Retreg3 UTSW 11 100,997,216 (GRCm39) missense possibly damaging 0.86
R7615:Retreg3 UTSW 11 100,993,806 (GRCm39) missense probably damaging 1.00
R8809:Retreg3 UTSW 11 100,992,852 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAAGTCTGCCTAGGTTTCTC -3'
(R):5'- CCAGGTAAGATTGCTTTGTGC -3'

Sequencing Primer
(F):5'- AGTTACTCCATTGCGAGGAC -3'
(R):5'- TGCAGGGCTGGCGAGATG -3'
Posted On 2016-12-15