Incidental Mutation 'R7966:Dpp6'
ID 650358
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 046009-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R7966 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 27022355-27932498 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27928370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 763 (M763V)
Ref Sequence ENSEMBL: ENSMUSP00000113441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071500] [ENSMUST00000101471] [ENSMUST00000120555] [ENSMUST00000122171]
AlphaFold Q9Z218
Predicted Effect probably benign
Transcript: ENSMUST00000071500
AA Change: M708V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000071435
Gene: ENSMUSG00000061576
AA Change: M708V

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 benign
Transcript: ENSMUST00000101471
AA Change: M707V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000099012
Gene: ENSMUSG00000061576
AA Change: M707V

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 benign
Transcript: ENSMUST00000120555
AA Change: M705V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000113849
Gene: ENSMUSG00000061576
AA Change: M705V

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 benign
Transcript: ENSMUST00000122171
AA Change: M763V

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113441
Gene: ENSMUSG00000061576
AA Change: M763V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (52/53)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A T 12: 71,219,903 (GRCm39) I817L probably benign Het
Adcy8 A T 15: 64,573,939 (GRCm39) W1055R probably damaging Het
Anks4b A G 7: 119,781,923 (GRCm39) E318G probably benign Het
Arid3a A G 10: 79,767,889 (GRCm39) T229A probably benign Het
Cckar T C 5: 53,858,580 (GRCm39) K247E possibly damaging Het
Cfap52 A T 11: 67,844,571 (GRCm39) probably null Het
Ckap4 A G 10: 84,363,449 (GRCm39) V538A probably damaging Het
Cped1 T C 6: 22,059,953 (GRCm39) probably null Het
Ctsf T G 19: 4,906,567 (GRCm39) F165V probably damaging Het
Cyp4v3 G T 8: 45,785,954 (GRCm39) A21E probably benign Het
Cytip T C 2: 58,037,944 (GRCm39) E140G probably damaging Het
D130043K22Rik A C 13: 25,077,406 (GRCm39) Q1013P probably damaging Het
Eps15 T A 4: 109,178,340 (GRCm39) Y193N probably damaging Het
Ghrhr T C 6: 55,356,083 (GRCm39) W59R probably damaging Het
Hdac4 A G 1: 91,861,402 (GRCm39) V1056A possibly damaging Het
Ipcef1 T C 10: 6,850,668 (GRCm39) T312A probably damaging Het
Itpr3 T C 17: 27,331,002 (GRCm39) probably null Het
Kif6 A G 17: 49,993,453 (GRCm39) I182V probably damaging Het
Lcn3 A G 2: 25,656,389 (GRCm39) K90E probably damaging Het
Lig3 T C 11: 82,681,342 (GRCm39) S446P probably damaging Het
Ncln G A 10: 81,326,103 (GRCm39) Q283* probably null Het
Nlrp4c A G 7: 6,069,322 (GRCm39) T408A probably damaging Het
Oas1h T C 5: 121,009,962 (GRCm39) F346L probably damaging Het
Olig2 AGCCGCCGCCGCCGCCGCAGCCGCCGCCGCCGC AGCCGCCGCCGCCGCAGCCGCCGCCGCCGC 16: 91,023,962 (GRCm39) probably benign Het
Or2ad1 A T 13: 21,326,356 (GRCm39) Y290* probably null Het
Or52b4 T C 7: 102,184,623 (GRCm39) I223T probably damaging Het
Or52s1b A T 7: 102,822,062 (GRCm39) F261I probably damaging Het
Or8b55 A G 9: 38,727,536 (GRCm39) I246V probably benign Het
Pdcd1 A T 1: 93,969,186 (GRCm39) V44E probably damaging Het
Prdm13 A T 4: 21,679,932 (GRCm39) I186N unknown Het
Prpf4b A G 13: 35,085,428 (GRCm39) D958G probably damaging Het
Prss59 A T 6: 40,903,022 (GRCm39) Y117N probably benign Het
Prune2 A G 19: 17,156,223 (GRCm39) N2792S probably damaging Het
Robo1 T A 16: 72,780,760 (GRCm39) I830N possibly damaging Het
Scaper A G 9: 55,669,611 (GRCm39) V355A probably damaging Het
Scn3b C T 9: 40,193,846 (GRCm39) A191V probably benign Het
Slc13a3 G C 2: 165,272,155 (GRCm39) S296C probably benign Het
Slc6a16 T A 7: 44,917,477 (GRCm39) I445N possibly damaging Het
Snrnp35 A G 5: 124,628,565 (GRCm39) Y126C possibly damaging Het
Spock2 A G 10: 59,957,554 (GRCm39) H98R possibly damaging Het
Sptssb A T 3: 69,728,286 (GRCm39) Y50* probably null Het
Syne1 A G 10: 5,066,965 (GRCm39) probably null Het
Tcf21 T C 10: 22,695,706 (GRCm39) T33A probably benign Het
Tecta A G 9: 42,306,258 (GRCm39) F57L probably damaging Het
Tgs1 C A 4: 3,586,215 (GRCm39) P364H probably benign Het
Tmem242 A G 17: 5,461,711 (GRCm39) I119T probably benign Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Vmn2r3 T A 3: 64,186,235 (GRCm39) N150I probably damaging Het
Vmn2r69 A G 7: 85,060,762 (GRCm39) I274T possibly damaging Het
Vwf T A 6: 125,616,304 (GRCm39) L1206* probably null Het
Zfp157 T A 5: 138,445,833 (GRCm39) W63R probably benign Het
Zfp455 T C 13: 67,347,302 (GRCm39) Y10H probably benign Het
Zfp654 T C 16: 64,605,239 (GRCm39) T447A probably damaging Het
Zhx2 T C 15: 57,685,063 (GRCm39) I144T probably damaging 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
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
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'- CCACTTGTGTTAGGAACCCC -3'
(R):5'- ATCAGCTGCGTGATGAGCTC -3'

Sequencing Primer
(F):5'- GTGTTAGGAACCCCCTTCAC -3'
(R):5'- CTGCGTGATGAGCTCAGCTG -3'
Posted On 2020-09-15