Incidental Mutation 'R5622:Deptor'
ID 441649
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 043161-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R5622 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 54975713-55122667 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55044428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 198 (I198N)
Ref Sequence ENSEMBL: ENSMUSP00000094167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023056] [ENSMUST00000096433] [ENSMUST00000100660] [ENSMUST00000226687]
AlphaFold Q570Y9
Predicted Effect probably damaging
Transcript: ENSMUST00000023056
AA Change: I186N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023056
Gene: ENSMUSG00000022419
AA Change: I186N

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 damaging
Transcript: ENSMUST00000096433
AA Change: I198N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000094167
Gene: ENSMUSG00000022419
AA Change: I198N

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 damaging
Transcript: ENSMUST00000100660
AA Change: I198N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000098225
Gene: ENSMUSG00000022419
AA Change: I198N

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 0.8189 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 97% (69/71)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,546,642 (GRCm39) S320T probably benign Het
Alg8 T A 7: 97,036,006 (GRCm39) probably benign Het
Anp32b G A 4: 46,469,930 (GRCm39) E202K unknown Het
Apcdd1 A G 18: 63,069,973 (GRCm39) probably null Het
Apobec2 A G 17: 48,730,444 (GRCm39) V74A possibly damaging Het
Arid3c A T 4: 41,729,959 (GRCm39) C79S probably benign Het
Atp1a2 A T 1: 172,118,994 (GRCm39) probably benign Het
B2m A T 2: 121,981,471 (GRCm39) N62I probably damaging Het
Borcs5 T C 6: 134,663,086 (GRCm39) probably null Het
Ccn1 A G 3: 145,355,075 (GRCm39) L60P probably damaging Het
Cdk11b A G 4: 155,714,674 (GRCm39) K127E probably damaging Het
Cep170 T C 1: 176,563,433 (GRCm39) H726R possibly damaging Het
Col5a2 A C 1: 45,466,219 (GRCm39) S190A probably benign Het
Cryba4 T C 5: 112,398,990 (GRCm39) D5G probably damaging Het
Cyp2a5 T G 7: 26,535,299 (GRCm39) V87G probably damaging Het
Dcaf8 A G 1: 172,013,965 (GRCm39) probably benign Het
Dchs1 A G 7: 105,404,500 (GRCm39) S2681P probably benign Het
Ddx20 A G 3: 105,586,327 (GRCm39) S673P probably damaging Het
Ebf2 T C 14: 67,628,007 (GRCm39) I334T possibly damaging Het
F5 A G 1: 164,020,134 (GRCm39) R870G probably benign Het
Flg2 A C 3: 93,109,871 (GRCm39) H633P unknown Het
Gm11938 T A 11: 99,494,119 (GRCm39) probably null Het
Gm6370 A G 5: 146,430,708 (GRCm39) T298A probably benign Het
H60b C A 10: 22,159,441 (GRCm39) probably benign Het
Hsbp1 A G 8: 120,071,324 (GRCm39) T4A possibly damaging Het
Hsd3b3 A T 3: 98,649,524 (GRCm39) D266E possibly damaging Het
Ift172 T C 5: 31,440,426 (GRCm39) Y287C probably damaging Het
Il20rb T A 9: 100,368,371 (GRCm39) Q4L probably benign Het
Krt5 T C 15: 101,617,470 (GRCm39) D421G probably damaging Het
Lonp1 G C 17: 56,927,263 (GRCm39) A330G probably benign Het
Me3 A G 7: 89,445,871 (GRCm39) D196G probably damaging Het
Mfsd12 T A 10: 81,199,461 (GRCm39) V451E probably null Het
Mib1 A G 18: 10,794,503 (GRCm39) N663S possibly damaging Het
Mtus2 A T 5: 148,015,244 (GRCm39) N679I probably benign Het
Myt1 A G 2: 181,438,915 (GRCm39) T146A probably benign Het
Neb T A 2: 52,160,281 (GRCm39) H2244L probably damaging Het
Or51l4 T C 7: 103,404,376 (GRCm39) T139A probably damaging Het
Or5b21 A C 19: 12,839,663 (GRCm39) I175L probably benign Het
Or5p81 C T 7: 108,267,289 (GRCm39) T222I probably benign Het
Pabpc4 A G 4: 123,185,524 (GRCm39) probably null Het
Padi1 C A 4: 140,552,266 (GRCm39) V393L probably damaging Het
Pax2 A T 19: 44,806,905 (GRCm39) D300V probably damaging Het
Pcgf2 T C 11: 97,581,078 (GRCm39) E71G probably damaging Het
Pi4kb A G 3: 94,906,172 (GRCm39) Q573R possibly damaging Het
Pitpna T A 11: 75,511,153 (GRCm39) M242K possibly damaging Het
Pkd1 A G 17: 24,793,014 (GRCm39) E1567G possibly damaging Het
Plcb2 A T 2: 118,545,210 (GRCm39) S630R probably damaging Het
Prrt2 A T 7: 126,618,937 (GRCm39) V176D probably benign Het
Prss1l A C 6: 41,373,084 (GRCm39) N119H probably damaging Het
Prss42 T C 9: 110,628,490 (GRCm39) probably null Het
Rhoq A G 17: 87,304,459 (GRCm39) R197G probably benign Het
Rin2 A T 2: 145,702,299 (GRCm39) T332S probably benign Het
Rnps1-ps C T 6: 7,982,605 (GRCm39) noncoding transcript Het
Rp1 A T 1: 4,418,060 (GRCm39) N1017K possibly damaging Het
Setbp1 T A 18: 78,900,700 (GRCm39) Y989F probably damaging Het
Slc11a1 G A 1: 74,420,065 (GRCm39) G191D probably damaging Het
Slc35f5 G A 1: 125,517,693 (GRCm39) R497Q probably damaging Het
Slf1 T C 13: 77,198,090 (GRCm39) K728R probably benign Het
Tiparp T G 3: 65,454,946 (GRCm39) S364A probably benign Het
Tph1 G A 7: 46,296,969 (GRCm39) Q409* probably null Het
Trp73 A T 4: 154,145,049 (GRCm39) I526N possibly damaging Het
Ttc9c G A 19: 8,793,332 (GRCm39) R103* probably null Het
Vmn2r75 T A 7: 85,797,702 (GRCm39) I704F probably benign Het
Wdr76 A G 2: 121,348,216 (GRCm39) R63G probably damaging Het
Zc3h3 T A 15: 75,648,928 (GRCm39) S735C probably damaging Het
Zfp383 G A 7: 29,611,615 (GRCm39) V32M probably damaging Het
Zfp810 T A 9: 22,190,392 (GRCm39) Y172F probably benign 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
R4061:Deptor UTSW 15 55,072,177 (GRCm39) missense probably benign
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
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'- TAGACTGATGAGCCCTGAAAC -3'
(R):5'- TGCTGACGCAACTGCAAAAC -3'

Sequencing Primer
(F):5'- TGATGAGCCCTGAAACTACACTC -3'
(R):5'- CTGATCTCAAATGAACAGGCAAGGC -3'
Posted On 2016-11-08