Incidental Mutation 'R4061:Deptor'
ID 315878
Institutional Source Beutler Lab
Gene Symbol Deptor
Ensembl Gene ENSMUSG00000022419
Gene Name DEP domain containing MTOR-interacting protein
Synonyms 9130412E02Rik, 4731402B04Rik, D15Ertd336e, D15Ertd597e, Depdc6
MMRRC Submission 040852-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R4061 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 54975713-55122667 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55072177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 219 (M219L)
Ref Sequence ENSEMBL: ENSMUSP00000098225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023056] [ENSMUST00000096433] [ENSMUST00000100660] [ENSMUST00000226687]
AlphaFold Q570Y9
Predicted Effect probably benign
Transcript: ENSMUST00000023056
AA Change: M207L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023056
Gene: ENSMUSG00000022419
AA Change: M207L

DomainStartEndE-ValueType
DEP 33 107 3.86e-21 SMART
DEP 134 207 1.37e-17 SMART
low complexity region 262 287 N/A INTRINSIC
PDZ 326 395 8.28e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000096433
AA Change: M219L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000094167
Gene: ENSMUSG00000022419
AA Change: M219L

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
DEP 45 119 3.86e-21 SMART
DEP 146 219 1.37e-17 SMART
low complexity region 274 299 N/A INTRINSIC
PDZ 338 407 8.28e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100660
AA Change: M219L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000098225
Gene: ENSMUSG00000022419
AA Change: M219L

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
DEP 45 119 3.86e-21 SMART
DEP 146 219 1.37e-17 SMART
low complexity region 274 299 N/A INTRINSIC
Blast:PDZ 338 367 7e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000226687
Meta Mutation Damage Score 0.0601 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 94% (51/54)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A T 1: 53,197,928 (GRCm39) L140Q probably damaging Het
Adam25 A G 8: 41,206,819 (GRCm39) I28M possibly damaging Het
Anks1b A G 10: 90,143,484 (GRCm39) S464G probably damaging Het
AU040320 T A 4: 126,729,488 (GRCm39) M550K probably damaging Het
Cab39l A G 14: 59,737,056 (GRCm39) K59E possibly damaging Het
Cdc5l C T 17: 45,721,816 (GRCm39) A485T probably benign Het
Csmd1 A G 8: 15,995,158 (GRCm39) S2626P probably benign Het
Ctss C T 3: 95,450,345 (GRCm39) R99W probably benign Het
Disp1 A G 1: 182,869,264 (GRCm39) V1052A probably damaging Het
Esyt3 C T 9: 99,202,891 (GRCm39) S504N probably damaging Het
Fat1 A T 8: 45,478,518 (GRCm39) E2521D probably benign Het
Folh1 T A 7: 86,406,170 (GRCm39) Y301F possibly damaging Het
Gm14443 G A 2: 175,011,402 (GRCm39) T348I probably benign Het
Gtpbp2 G A 17: 46,478,253 (GRCm39) R467H probably damaging Het
Hnrnpll T C 17: 80,340,201 (GRCm39) H526R probably benign Het
Iars2 A T 1: 185,035,583 (GRCm39) H552Q possibly damaging Het
Il18r1 G A 1: 40,514,096 (GRCm39) V101I probably benign Het
Impdh2 A G 9: 108,440,003 (GRCm39) R182G possibly damaging Het
Krt12 A T 11: 99,306,841 (GRCm39) M487K unknown Het
Lmln C A 16: 32,886,761 (GRCm39) Y89* probably null Het
Lrrc38 T A 4: 143,077,076 (GRCm39) L113Q probably damaging Het
Mast3 A G 8: 71,233,838 (GRCm39) V969A probably damaging Het
Muc5ac A G 7: 141,364,867 (GRCm39) D1947G possibly damaging Het
Myh13 A T 11: 67,221,715 (GRCm39) I177F possibly damaging Het
Nfasc T C 1: 132,525,583 (GRCm39) Y904C probably damaging Het
Obscn G A 11: 58,899,358 (GRCm39) P1000S probably damaging Het
Or52n4 T A 7: 104,293,680 (GRCm39) K298* probably null Het
Or5t7 T A 2: 86,507,162 (GRCm39) I172F probably damaging Het
Otop2 G A 11: 115,220,201 (GRCm39) G347D probably damaging Het
Pclo A G 5: 14,590,580 (GRCm39) E960G unknown Het
Plagl1 TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC 10: 13,004,515 (GRCm39) probably benign Het
Prl7a1 T C 13: 27,819,832 (GRCm39) I141V possibly damaging Het
Ptpn18 A T 1: 34,512,011 (GRCm39) H45L possibly damaging Het
Sbno1 A T 5: 124,526,635 (GRCm39) M960K probably damaging Het
Slx4ip T A 2: 136,846,937 (GRCm39) S67R probably benign Het
Spata18 A G 5: 73,828,509 (GRCm39) K243E probably damaging Het
Tcp1 A G 17: 13,139,750 (GRCm39) Q265R probably benign Het
Tec C T 5: 72,980,752 (GRCm39) probably benign Het
Thbs4 A G 13: 92,912,605 (GRCm39) probably null Het
Tln1 T A 4: 43,549,177 (GRCm39) Q635L probably damaging Het
Tshz2 A G 2: 169,804,245 (GRCm39) probably benign Het
Uap1 T C 1: 169,986,415 (GRCm39) E189G possibly damaging Het
Usp21 G A 1: 171,112,974 (GRCm39) probably benign Het
Vmn1r118 G T 7: 20,645,933 (GRCm39) Q114K probably damaging Het
Vmn1r38 A T 6: 66,753,832 (GRCm39) C95S possibly damaging Het
Vmn2r12 A T 5: 109,240,058 (GRCm39) N168K possibly damaging Het
Vmn2r84 T A 10: 130,221,898 (GRCm39) E774V probably damaging Het
Other mutations in Deptor
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01666:Deptor APN 15 55,012,775 (GRCm39) missense probably damaging 1.00
IGL02374:Deptor APN 15 55,044,357 (GRCm39) missense probably damaging 1.00
R1199:Deptor UTSW 15 55,115,406 (GRCm39) missense probably benign 0.00
R1659:Deptor UTSW 15 55,081,670 (GRCm39) critical splice donor site probably null
R4688:Deptor UTSW 15 55,072,177 (GRCm39) missense probably benign 0.01
R4731:Deptor UTSW 15 55,044,406 (GRCm39) missense probably benign 0.00
R4732:Deptor UTSW 15 55,044,406 (GRCm39) missense probably benign 0.00
R4733:Deptor UTSW 15 55,044,406 (GRCm39) missense probably benign 0.00
R4757:Deptor UTSW 15 55,075,674 (GRCm39) missense probably damaging 1.00
R5622:Deptor UTSW 15 55,044,428 (GRCm39) missense probably damaging 1.00
R7940:Deptor UTSW 15 55,072,244 (GRCm39) missense probably benign 0.03
R8691:Deptor UTSW 15 55,083,596 (GRCm39) missense possibly damaging 0.93
R8752:Deptor UTSW 15 55,044,280 (GRCm39) missense probably benign 0.00
R9382:Deptor UTSW 15 54,975,798 (GRCm39) unclassified probably benign
Z1177:Deptor UTSW 15 54,996,855 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- GTGTCACGTGAGAAGAATTTGG -3'
(R):5'- AGGATTCTTGGCCCCACAC -3'

Sequencing Primer
(F):5'- TGTGCGCCACTCCACAAG -3'
(R):5'- GGATTCTTGGCCCCACACTTTATTAC -3'
Posted On 2015-05-15