Incidental Mutation 'R4967:Dpp6'
ID 384097
Institutional Source Beutler Lab
Gene Symbol Dpp6
Ensembl Gene ENSMUSG00000061576
Gene Name dipeptidylpeptidase 6
Synonyms Rw, In(5)6H-p, B930011P16Rik, Dpp-6, LOC384168, Peplb
MMRRC Submission 042563-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R4967 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 27022355-27932498 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27871509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 544 (F544S)
Ref Sequence ENSEMBL: ENSMUSP00000113441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071500] [ENSMUST00000101471] [ENSMUST00000120555] [ENSMUST00000122171]
AlphaFold Q9Z218
Predicted Effect probably damaging
Transcript: ENSMUST00000071500
AA Change: F489S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071435
Gene: ENSMUSG00000061576
AA Change: F489S

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
Pfam:DPPIV_N 134 500 7.2e-114 PFAM
Pfam:PD40 365 402 1.1e-5 PFAM
Pfam:Peptidase_S9 579 789 2.9e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000101471
AA Change: F488S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099012
Gene: ENSMUSG00000061576
AA Change: F488S

DomainStartEndE-ValueType
transmembrane domain 34 56 N/A INTRINSIC
Pfam:DPPIV_N 133 499 2.6e-114 PFAM
Pfam:PD40 364 401 9.3e-6 PFAM
Pfam:Peptidase_S9 578 788 1.9e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120555
AA Change: F486S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113849
Gene: ENSMUSG00000061576
AA Change: F486S

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
Pfam:DPPIV_N 131 497 2.6e-114 PFAM
Pfam:PD40 362 399 9.2e-6 PFAM
Pfam:Peptidase_S9 576 786 1.9e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000122171
AA Change: F544S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113441
Gene: ENSMUSG00000061576
AA Change: F544S

DomainStartEndE-ValueType
low complexity region 50 62 N/A INTRINSIC
transmembrane domain 90 112 N/A INTRINSIC
Pfam:DPPIV_N 189 555 6.4e-113 PFAM
Pfam:PD40 425 457 1.1e-4 PFAM
Pfam:Peptidase_S9 634 844 4.3e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134175
Meta Mutation Damage Score 0.8944 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 100% (102/102)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a single-pass type II membrane protein that is a member of the peptidase S9B family of serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Variations in this gene may be associated with susceptibility to amyotrophic lateral sclerosis and with idiopathic ventricular fibrillation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit loss of A-type K+ current gradients in distal dendrites. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A T 12: 72,956,502 (GRCm39) Y199* probably null Het
Adhfe1 A T 1: 9,637,029 (GRCm39) I394F probably benign Het
Arhgap26 G T 18: 39,379,893 (GRCm39) R485L probably damaging Het
Atat1 T A 17: 36,212,467 (GRCm39) N231I probably damaging Het
B4galnt2 T C 11: 95,760,100 (GRCm39) N309S probably benign Het
Bank1 A T 3: 135,772,134 (GRCm39) F499I probably damaging Het
Bcl9l A G 9: 44,416,365 (GRCm39) D146G possibly damaging Het
Bglap3 A T 3: 88,283,671 (GRCm39) probably benign Het
Bscl2 C A 19: 8,825,344 (GRCm39) T376K probably benign Het
Cercam A T 2: 29,761,033 (GRCm39) probably null Het
Clec4f C T 6: 83,633,012 (GRCm39) M1I probably null Het
Clec4n A T 6: 123,209,066 (GRCm39) I14F probably benign Het
Cmya5 T C 13: 93,227,093 (GRCm39) E2665G probably damaging Het
Cog4 T A 8: 111,578,915 (GRCm39) probably null Het
Cubn A G 2: 13,352,856 (GRCm39) F1961L probably benign Het
Cyp4a29 A T 4: 115,104,196 (GRCm39) H88L probably benign Het
Dhdh A G 7: 45,128,530 (GRCm39) L216P probably damaging Het
Dthd1 C T 5: 63,045,549 (GRCm39) T771I probably benign Het
Emc10 A G 7: 44,142,612 (GRCm39) probably null Het
Fgg A T 3: 82,920,072 (GRCm39) T284S probably benign Het
Gask1a C T 9: 121,794,784 (GRCm39) R313W probably damaging Het
Gm3002 T A 14: 3,824,737 (GRCm38) N24K probably damaging Het
Gm8674 G A 13: 50,056,034 (GRCm39) noncoding transcript Het
Gpr63 G A 4: 25,008,368 (GRCm39) W364* probably null Het
Hcn4 C G 9: 58,767,111 (GRCm39) P891A unknown Het
Hcrtr1 A T 4: 130,024,792 (GRCm39) F365I possibly damaging Het
Hmcn2 A G 2: 31,244,176 (GRCm39) probably null Het
Hoxc5 T A 15: 102,923,786 (GRCm39) L194H probably damaging Het
Ifna11 A G 4: 88,738,287 (GRCm39) N31S probably null Het
Ikbke GCC G 1: 131,203,004 (GRCm39) probably null Het
Iqgap2 A T 13: 95,766,514 (GRCm39) D1496E probably benign Het
Kif28 G T 1: 179,536,007 (GRCm39) Q556K probably damaging Het
Klhl42 C T 6: 147,009,502 (GRCm39) T447I possibly damaging Het
Lrp1b A C 2: 41,678,986 (GRCm39) D35E probably damaging Het
Lsm14b A G 2: 179,675,692 (GRCm39) probably benign Het
Map3k1 T C 13: 111,909,272 (GRCm39) E226G probably damaging Het
Map3k14 T A 11: 103,130,357 (GRCm39) N187Y probably benign Het
Mcm6 A T 1: 128,263,586 (GRCm39) V645E probably damaging Het
Mdh1b G T 1: 63,759,022 (GRCm39) P190Q probably damaging Het
Meiob T G 17: 25,037,353 (GRCm39) L77R probably damaging Het
Mrgpra3 A T 7: 47,239,267 (GRCm39) F220I probably benign Het
Mrtfa C A 15: 80,929,476 (GRCm39) probably benign Het
Mtor T A 4: 148,575,817 (GRCm39) S1324T possibly damaging Het
Myot T A 18: 44,487,995 (GRCm39) D437E possibly damaging Het
Ncoa6 G T 2: 155,263,252 (GRCm39) T394K possibly damaging Het
Nf1 T A 11: 79,456,379 (GRCm39) probably null Het
Nup210 T A 6: 91,013,451 (GRCm39) T1190S possibly damaging Het
Odf1 T A 15: 38,226,652 (GRCm39) I184N probably damaging Het
Or10d1 C T 9: 39,484,054 (GRCm39) C167Y probably damaging Het
Or13d1 T C 4: 52,970,960 (GRCm39) V113A possibly damaging Het
Or1n1b A G 2: 36,780,719 (GRCm39) I47T probably damaging Het
Or5k15 G T 16: 58,709,957 (GRCm39) Q209K possibly damaging Het
Padi1 A G 4: 140,572,901 (GRCm39) V21A probably benign Het
Pdzrn3 C T 6: 101,128,551 (GRCm39) R705H probably damaging Het
Pik3cb T C 9: 98,987,685 (GRCm39) I18V probably benign Het
Pmpca T C 2: 26,280,320 (GRCm39) S117P probably damaging Het
Poteg T A 8: 27,985,009 (GRCm39) probably benign Het
Pramel32 T C 4: 88,547,432 (GRCm39) T80A probably damaging Het
Rab30 G A 7: 92,478,771 (GRCm39) R72H probably damaging Het
Ramp2 T A 11: 101,138,383 (GRCm39) probably null Het
Rbks G A 5: 31,781,876 (GRCm39) T308I probably damaging Het
Rnf112 A G 11: 61,343,752 (GRCm39) probably benign Het
Rnf38 G A 4: 44,152,460 (GRCm39) P3S probably damaging Het
Sec16a A G 2: 26,302,883 (GRCm39) S2344P probably benign Het
Slc16a8 C T 15: 79,137,084 (GRCm39) V109M possibly damaging Het
Slc28a1 A T 7: 80,791,757 (GRCm39) T308S possibly damaging Het
Slc39a3 T C 10: 80,867,453 (GRCm39) T98A possibly damaging Het
Smarcc2 T C 10: 128,319,049 (GRCm39) F731L probably damaging Het
Smc4 A G 3: 68,925,572 (GRCm39) probably benign Het
Sparcl1 T G 5: 104,240,776 (GRCm39) D216A probably damaging Het
Speg G A 1: 75,364,513 (GRCm39) R192H probably damaging Het
Sspo T C 6: 48,441,539 (GRCm39) L1892P probably damaging Het
Styxl2 A T 1: 165,954,675 (GRCm39) V25E probably damaging Het
Tacc2 A G 7: 130,225,678 (GRCm39) N807D probably damaging Het
Teddm1a A T 1: 153,767,979 (GRCm39) K148* probably null Het
Tex15 T A 8: 34,064,498 (GRCm39) D1309E probably benign Het
Thbs1 A T 2: 117,945,259 (GRCm39) E277D probably benign Het
Ticrr G A 7: 79,310,158 (GRCm39) R24Q probably damaging Het
Tigd4 A G 3: 84,502,460 (GRCm39) E459G probably benign Het
Tln2 C A 9: 67,262,407 (GRCm39) A615S probably damaging Het
Tmprss5 T C 9: 49,026,817 (GRCm39) V410A probably damaging Het
Tnrc6a G T 7: 122,789,095 (GRCm39) W1638L probably damaging Het
Tpr A G 1: 150,285,810 (GRCm39) D424G probably damaging Het
Trim34a A T 7: 103,910,271 (GRCm39) K358* probably null Het
Tssk5 T A 15: 76,258,856 (GRCm39) D10V possibly damaging Het
Usp35 A C 7: 96,962,782 (GRCm39) L470R probably damaging Het
Usp42 T C 5: 143,701,119 (GRCm39) D968G possibly damaging Het
Utrn A G 10: 12,331,164 (GRCm39) V2924A probably damaging Het
Wdtc1 C A 4: 133,021,654 (GRCm39) A627S probably damaging Het
Xrra1 A G 7: 99,555,730 (GRCm39) T366A probably damaging Het
Zfp712 T A 13: 67,188,773 (GRCm39) K585* probably null Het
Zfp97 T A 17: 17,365,393 (GRCm39) N297K probably damaging Het
Zfp97 G T 17: 17,364,938 (GRCm39) E146* probably null Het
Other mutations in Dpp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00310:Dpp6 APN 5 27,928,441 (GRCm39) missense probably damaging 1.00
IGL01137:Dpp6 APN 5 27,919,486 (GRCm39) missense probably damaging 1.00
IGL01386:Dpp6 APN 5 27,869,760 (GRCm39) critical splice donor site probably null
IGL01409:Dpp6 APN 5 27,762,599 (GRCm39) missense probably damaging 1.00
IGL01721:Dpp6 APN 5 27,836,518 (GRCm39) missense probably damaging 1.00
IGL02149:Dpp6 APN 5 27,743,022 (GRCm39) missense probably benign 0.00
IGL02174:Dpp6 APN 5 27,926,085 (GRCm39) nonsense probably null
IGL02176:Dpp6 APN 5 27,928,575 (GRCm39) missense probably damaging 0.98
IGL02326:Dpp6 APN 5 27,869,755 (GRCm39) missense probably damaging 1.00
IGL02336:Dpp6 APN 5 27,674,409 (GRCm39) missense probably benign 0.04
IGL02339:Dpp6 APN 5 27,857,228 (GRCm39) missense probably damaging 0.97
IGL02402:Dpp6 APN 5 27,839,541 (GRCm39) missense probably damaging 1.00
IGL02884:Dpp6 APN 5 27,839,554 (GRCm39) missense possibly damaging 0.88
IGL02885:Dpp6 APN 5 27,923,471 (GRCm39) missense probably damaging 1.00
IGL02938:Dpp6 APN 5 27,928,365 (GRCm39) splice site probably benign
IGL03083:Dpp6 APN 5 27,914,548 (GRCm39) critical splice donor site probably null
I0000:Dpp6 UTSW 5 27,603,920 (GRCm39) missense probably benign 0.02
IGL03052:Dpp6 UTSW 5 27,914,506 (GRCm39) missense probably benign 0.03
PIT4431001:Dpp6 UTSW 5 27,836,496 (GRCm39) missense probably benign 0.03
R0060:Dpp6 UTSW 5 27,803,817 (GRCm39) missense probably damaging 1.00
R0360:Dpp6 UTSW 5 27,857,267 (GRCm39) missense probably damaging 1.00
R0486:Dpp6 UTSW 5 27,866,640 (GRCm39) missense probably benign 0.39
R0501:Dpp6 UTSW 5 27,930,604 (GRCm39) missense probably damaging 1.00
R1028:Dpp6 UTSW 5 27,871,425 (GRCm39) missense probably benign 0.01
R1164:Dpp6 UTSW 5 27,926,103 (GRCm39) missense probably benign 0.02
R1177:Dpp6 UTSW 5 27,868,471 (GRCm39) missense possibly damaging 0.94
R1993:Dpp6 UTSW 5 27,604,004 (GRCm39) missense probably benign 0.00
R2024:Dpp6 UTSW 5 27,914,457 (GRCm39) missense possibly damaging 0.67
R2100:Dpp6 UTSW 5 27,869,742 (GRCm39) missense probably damaging 0.96
R2329:Dpp6 UTSW 5 27,656,286 (GRCm39) splice site probably null
R3619:Dpp6 UTSW 5 27,926,118 (GRCm39) missense possibly damaging 0.74
R3871:Dpp6 UTSW 5 27,674,463 (GRCm39) missense probably benign 0.03
R3872:Dpp6 UTSW 5 27,926,056 (GRCm39) missense probably damaging 1.00
R4114:Dpp6 UTSW 5 27,674,485 (GRCm39) critical splice donor site probably null
R4403:Dpp6 UTSW 5 27,923,460 (GRCm39) missense probably damaging 1.00
R4599:Dpp6 UTSW 5 27,839,546 (GRCm39) missense probably damaging 1.00
R4736:Dpp6 UTSW 5 27,917,657 (GRCm39) missense probably damaging 1.00
R4929:Dpp6 UTSW 5 27,254,785 (GRCm39) missense probably benign 0.25
R5162:Dpp6 UTSW 5 27,604,013 (GRCm39) unclassified probably benign
R5270:Dpp6 UTSW 5 27,839,532 (GRCm39) missense probably damaging 0.98
R5334:Dpp6 UTSW 5 27,914,538 (GRCm39) missense probably benign 0.30
R5437:Dpp6 UTSW 5 27,868,499 (GRCm39) nonsense probably null
R5663:Dpp6 UTSW 5 27,254,620 (GRCm39) missense possibly damaging 0.84
R6023:Dpp6 UTSW 5 27,928,545 (GRCm39) missense probably damaging 0.96
R6244:Dpp6 UTSW 5 27,254,626 (GRCm39) missense probably damaging 0.99
R6312:Dpp6 UTSW 5 27,930,669 (GRCm39) missense possibly damaging 0.84
R6442:Dpp6 UTSW 5 27,923,507 (GRCm39) critical splice donor site probably null
R6942:Dpp6 UTSW 5 27,674,457 (GRCm39) missense possibly damaging 0.79
R6956:Dpp6 UTSW 5 27,803,819 (GRCm39) missense probably damaging 1.00
R7210:Dpp6 UTSW 5 27,803,801 (GRCm39) missense probably damaging 0.99
R7342:Dpp6 UTSW 5 27,919,552 (GRCm39) missense probably benign
R7702:Dpp6 UTSW 5 27,857,274 (GRCm39) missense probably benign 0.00
R7727:Dpp6 UTSW 5 27,656,242 (GRCm39) missense probably benign 0.30
R7899:Dpp6 UTSW 5 27,926,077 (GRCm39) missense probably benign 0.03
R7966:Dpp6 UTSW 5 27,928,370 (GRCm39) missense probably benign 0.06
R8015:Dpp6 UTSW 5 27,022,808 (GRCm39) start gained probably benign
R8084:Dpp6 UTSW 5 27,836,397 (GRCm39) missense probably benign 0.32
R8178:Dpp6 UTSW 5 27,803,815 (GRCm39) missense probably damaging 1.00
R8384:Dpp6 UTSW 5 27,923,472 (GRCm39) missense probably benign 0.18
R8816:Dpp6 UTSW 5 27,930,711 (GRCm39) missense probably benign 0.07
R8936:Dpp6 UTSW 5 27,926,140 (GRCm39) missense probably damaging 1.00
R9090:Dpp6 UTSW 5 27,803,832 (GRCm39) nonsense probably null
R9164:Dpp6 UTSW 5 27,656,286 (GRCm39) splice site probably null
R9271:Dpp6 UTSW 5 27,803,832 (GRCm39) nonsense probably null
R9310:Dpp6 UTSW 5 27,930,642 (GRCm39) missense probably benign 0.11
R9310:Dpp6 UTSW 5 27,836,439 (GRCm39) missense probably damaging 0.97
R9320:Dpp6 UTSW 5 27,868,521 (GRCm39) critical splice donor site probably null
R9667:Dpp6 UTSW 5 27,930,604 (GRCm39) missense probably damaging 1.00
R9761:Dpp6 UTSW 5 27,869,743 (GRCm39) missense probably benign 0.38
Z1176:Dpp6 UTSW 5 27,603,996 (GRCm39) missense probably damaging 1.00
Z1177:Dpp6 UTSW 5 27,917,640 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGAGGAGAGGTACCTTGCTG -3'
(R):5'- TGGCTCAATGCAGAGAAAACTCC -3'

Sequencing Primer
(F):5'- CTGGGGAATTCAGGACTTGACCTC -3'
(R):5'- CTCCCTGATGAGCTTTGCAAGAAG -3'
Posted On 2016-04-27