Incidental Mutation 'R0360:Dpp6'
ID 30036
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 038566-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R0360 (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 27857267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 404 (L404P)
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: L349P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071435
Gene: ENSMUSG00000061576
AA Change: L349P

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: L348P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099012
Gene: ENSMUSG00000061576
AA Change: L348P

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: L346P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113849
Gene: ENSMUSG00000061576
AA Change: L346P

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: L404P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113441
Gene: ENSMUSG00000061576
AA Change: L404P

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 0.8604 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.6%
Validation Efficiency 98% (93/95)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 G A 7: 28,310,553 (GRCm39) probably benign Het
Adcyap1r1 G T 6: 55,452,508 (GRCm39) probably benign Het
Ankrd6 T C 4: 32,836,424 (GRCm39) T44A probably damaging Het
Ano7 A G 1: 93,316,380 (GRCm39) D221G probably benign Het
Bhlhe40 C A 6: 108,641,711 (GRCm39) N218K probably damaging Het
Bms1 A G 6: 118,382,251 (GRCm39) V429A probably benign Het
C7 T A 15: 5,018,444 (GRCm39) T800S probably benign Het
Camta2 G A 11: 70,574,136 (GRCm39) T127I probably damaging Het
Ccdc13 T A 9: 121,627,282 (GRCm39) N665I probably damaging Het
Ccdc157 T C 11: 4,096,663 (GRCm39) E362G probably damaging Het
Ccdc73 T A 2: 104,811,352 (GRCm39) N310K probably damaging Het
Cfap91 T A 16: 38,118,659 (GRCm39) probably null Het
Cmklr1 A T 5: 113,752,578 (GRCm39) L141H probably damaging Het
Cnst C A 1: 179,407,100 (GRCm39) A49E probably benign Het
Col5a3 C T 9: 20,683,762 (GRCm39) R1498Q unknown Het
Crybb3 T A 5: 113,223,819 (GRCm39) I197F probably damaging Het
Cryzl1 G A 16: 91,504,155 (GRCm39) P97S probably benign Het
Cubn T C 2: 13,315,318 (GRCm39) probably benign Het
Cyp2d37-ps T C 15: 82,574,253 (GRCm39) noncoding transcript Het
Cyp4a12b C A 4: 115,290,117 (GRCm39) N223K probably benign Het
D16Ertd472e A T 16: 78,344,773 (GRCm39) C112S probably benign Het
Dennd2a T C 6: 39,485,233 (GRCm39) T349A probably benign Het
Dock5 G A 14: 68,060,129 (GRCm39) probably benign Het
Dsc3 T A 18: 20,104,639 (GRCm39) T563S possibly damaging Het
Dync2h1 T A 9: 7,113,182 (GRCm39) E214D possibly damaging Het
Elac2 A G 11: 64,870,136 (GRCm39) Y67C probably damaging Het
Elmo1 A T 13: 20,748,663 (GRCm39) K503* probably null Het
Eng T C 2: 32,569,149 (GRCm39) S559P probably benign Het
Epc2 T A 2: 49,427,145 (GRCm39) V563E possibly damaging Het
Fancm A G 12: 65,122,724 (GRCm39) Y82C probably damaging Het
Flt4 A T 11: 49,527,818 (GRCm39) M924L probably benign Het
Gabpa T A 16: 84,654,275 (GRCm39) N317K possibly damaging Het
Gchfr T G 2: 118,998,327 (GRCm39) Y3* probably null Het
Gli3 G T 13: 15,899,349 (GRCm39) G912V probably benign Het
Gm10295 C A 7: 71,000,361 (GRCm39) C73F unknown Het
Gm10382 G T 5: 125,466,728 (GRCm39) probably benign Het
Gp1ba T C 11: 70,531,284 (GRCm39) probably benign Het
Gpr146 G A 5: 139,364,933 (GRCm39) probably benign Het
Hexd T A 11: 121,102,969 (GRCm39) H62Q probably benign Het
Hgd T A 16: 37,431,546 (GRCm39) probably benign Het
Hs6st1 G A 1: 36,108,266 (GRCm39) probably null Het
Icam4 A G 9: 20,941,117 (GRCm39) Y123C probably damaging Het
Il24 A G 1: 130,811,674 (GRCm39) V134A probably damaging Het
Iqcb1 G T 16: 36,692,670 (GRCm39) A562S probably damaging Het
Iqgap2 A C 13: 95,867,783 (GRCm39) probably benign Het
Islr2 T C 9: 58,107,027 (GRCm39) T78A possibly damaging Het
Kif1b A G 4: 149,347,186 (GRCm39) I330T probably damaging Het
Kirrel1 T C 3: 86,997,106 (GRCm39) Y287C probably damaging Het
Klf10 C T 15: 38,297,090 (GRCm39) V317M probably benign Het
Klhl9 T G 4: 88,638,527 (GRCm39) K571N probably benign Het
Lin37 T C 7: 30,256,438 (GRCm39) I97V possibly damaging Het
Lrrc37a C T 11: 103,391,466 (GRCm39) V1320I possibly damaging Het
Lrrc74a A G 12: 86,784,569 (GRCm39) H99R probably damaging Het
Me3 T A 7: 89,435,622 (GRCm39) probably null Het
Med13 T C 11: 86,219,987 (GRCm39) probably benign Het
Myh6 A T 14: 55,185,804 (GRCm39) Y1490* probably null Het
Myo10 T C 15: 25,804,454 (GRCm39) L1583P probably damaging Het
Nkx6-3 A G 8: 23,647,722 (GRCm39) E227G possibly damaging Het
Nlrp1a T A 11: 71,004,830 (GRCm39) probably benign Het
Nlrp5-ps A C 7: 14,317,016 (GRCm39) noncoding transcript Het
Nup188 T G 2: 30,216,491 (GRCm39) I765S probably null Het
Obscn G A 11: 59,019,107 (GRCm39) A969V probably benign Het
Or11a4 T C 17: 37,536,934 (GRCm39) L306P possibly damaging Het
Or1j19 T A 2: 36,677,452 (GRCm39) M305K probably benign Het
Or5a1 G T 19: 12,097,217 (GRCm39) D286E possibly damaging Het
Or8k33 A T 2: 86,384,123 (GRCm39) L115Q probably damaging Het
Otogl T A 10: 107,606,511 (GRCm39) probably benign Het
Pcnx3 G A 19: 5,715,611 (GRCm39) R1472W probably damaging Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Plscr4 T A 9: 92,370,814 (GRCm39) probably benign Het
Pon2 G A 6: 5,266,156 (GRCm39) Q288* probably null Het
Ptpn13 C A 5: 103,681,214 (GRCm39) R805S probably damaging Het
Pyroxd2 A T 19: 42,735,992 (GRCm39) V62D probably damaging Het
Rab37 G T 11: 115,047,790 (GRCm39) C44F probably damaging Het
Rbm44 T C 1: 91,080,069 (GRCm39) S52P probably benign Het
Rgl3 A G 9: 21,888,153 (GRCm39) W454R probably damaging Het
Rita1 A G 5: 120,747,837 (GRCm39) S154P probably benign Het
Scn5a T C 9: 119,351,665 (GRCm39) D772G probably damaging Het
Sec23ip G A 7: 128,363,129 (GRCm39) probably benign Het
Skic8 A T 9: 54,634,862 (GRCm39) probably benign Het
Slc23a1 T A 18: 35,756,032 (GRCm39) probably benign Het
Slco1a8 A C 6: 141,928,053 (GRCm39) probably benign Het
Sparcl1 T A 5: 104,237,503 (GRCm39) D444V probably damaging Het
Taar6 C A 10: 23,861,046 (GRCm39) V167L probably benign Het
Tmcc3 T A 10: 94,414,407 (GRCm39) N36K probably benign Het
Tmem200c T A 17: 69,147,543 (GRCm39) V42E probably damaging Het
Trhde T C 10: 114,338,887 (GRCm39) probably benign Het
Tshz3 A G 7: 36,469,958 (GRCm39) E649G probably benign Het
Utp4 T C 8: 107,625,169 (GRCm39) probably benign Het
Vmn1r30 A G 6: 58,412,262 (GRCm39) V190A probably benign Het
Vmn1r35 A G 6: 66,655,827 (GRCm39) I281T probably damaging Het
Vmn1r58 G T 7: 5,413,329 (GRCm39) H300Q probably benign Het
Vmn1r84 A G 7: 12,095,799 (GRCm39) L286P probably damaging Het
Vmn2r54 A T 7: 12,349,576 (GRCm39) C669S probably damaging Het
Zfp623 T C 15: 75,820,510 (GRCm39) S489P probably benign 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
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
R4967:Dpp6 UTSW 5 27,871,509 (GRCm39) missense probably damaging 1.00
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'- CGTGAAACTGAAGTCAGTAGAGCCC -3'
(R):5'- ACCAAACCAGAGGCTGGACATAATG -3'

Sequencing Primer
(F):5'- TCGGTTTTAAGAGCCCAGC -3'
(R):5'- CTGGACATAATGTCAATGACAGAGC -3'
Posted On 2013-04-24