Incidental Mutation 'R8178:Dpp6'
ID 634469
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 067603-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R8178 (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 T at 27803815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 254 (N254Y)
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: N199Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071435
Gene: ENSMUSG00000061576
AA Change: N199Y

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: N198Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099012
Gene: ENSMUSG00000061576
AA Change: N198Y

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: N196Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113849
Gene: ENSMUSG00000061576
AA Change: N196Y

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: N254Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113441
Gene: ENSMUSG00000061576
AA Change: N254Y

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: 99.9%
  • 10x: 99.6%
  • 20x: 99.0%
Validation Efficiency 99% (68/69)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik A G 17: 79,935,699 (GRCm39) I276V Het
Acsm5 C A 7: 119,141,618 (GRCm39) H538N probably damaging Het
Adamts17 A G 7: 66,499,464 (GRCm39) I4V possibly damaging Het
Adgrg3 T C 8: 95,761,675 (GRCm39) V146A probably damaging Het
Ankrd52 T A 10: 128,225,170 (GRCm39) L877Q probably damaging Het
Aox3 A T 1: 58,189,481 (GRCm39) D394V possibly damaging Het
Arhgap45 G A 10: 79,863,706 (GRCm39) A819T probably damaging Het
Arhgef4 A G 1: 34,761,983 (GRCm39) E413G unknown Het
Arhgef5 T C 6: 43,252,119 (GRCm39) S957P probably benign Het
Arsk G T 13: 76,239,861 (GRCm39) T114K probably damaging Het
Bpifb2 T C 2: 153,733,876 (GRCm39) V406A probably damaging Het
Cbr3 C A 16: 93,480,393 (GRCm39) Q61K probably benign Het
Ccdc73 C T 2: 104,821,557 (GRCm39) S502L probably benign Het
Cdhr3 A T 12: 33,098,931 (GRCm39) probably null Het
Cep170b T A 12: 112,705,719 (GRCm39) M1159K possibly damaging Het
Cep295 A T 9: 15,244,836 (GRCm39) S1159T Het
Cit C T 5: 116,107,131 (GRCm39) R1088W probably damaging Het
Col16a1 A T 4: 129,947,270 (GRCm39) H205L unknown Het
Cpt1c T G 7: 44,609,077 (GRCm39) H748P probably damaging Het
Cstdc4 T G 16: 36,006,772 (GRCm39) Y35* probably null Het
Dcaf8 A T 1: 172,013,886 (GRCm39) D359V probably benign Het
Dcstamp A G 15: 39,618,422 (GRCm39) Y277C probably damaging Het
Dnah10 A G 5: 124,832,790 (GRCm39) K898R probably benign Het
Dnah6 T A 6: 73,037,208 (GRCm39) T3345S probably benign Het
F2 A T 2: 91,460,618 (GRCm39) probably null Het
Fam216b G C 14: 78,322,504 (GRCm39) H67D possibly damaging Het
Fbxl17 A C 17: 63,794,967 (GRCm39) probably null Het
Gas2 T A 7: 51,547,026 (GRCm39) M59K probably damaging Het
Glud1 G A 14: 34,065,664 (GRCm39) G554D probably damaging Het
Gys2 C T 6: 142,402,138 (GRCm39) G234R probably damaging Het
Ifngr1 A G 10: 19,485,241 (GRCm39) I413M probably benign Het
Inpp5a C T 7: 139,118,153 (GRCm39) R236C probably damaging Het
Kcnip3 A G 2: 127,323,934 (GRCm39) S32P probably benign Het
Lingo3 T A 10: 80,670,464 (GRCm39) T489S possibly damaging Het
Lrpprc A G 17: 85,079,575 (GRCm39) L227P probably damaging Het
Morn1 A G 4: 155,213,160 (GRCm39) Q356R probably benign Het
Naxd A C 8: 11,561,987 (GRCm39) K275Q probably benign Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nck1 A T 9: 100,379,790 (GRCm39) W154R probably damaging Het
Or10d5 G A 9: 39,861,708 (GRCm39) R120C probably benign Het
Or1ad8 T A 11: 50,898,437 (GRCm39) C213S probably damaging Het
Or5aq6 C T 2: 86,923,220 (GRCm39) V174M possibly damaging Het
Or7e175 T C 9: 20,048,571 (GRCm39) V53A possibly damaging Het
Pdxk C T 10: 78,289,338 (GRCm39) V38M probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pes1 T C 11: 3,927,718 (GRCm39) S482P probably benign Het
Pglyrp1 T A 7: 18,618,657 (GRCm39) F3I unknown Het
Pira13 T C 7: 3,824,260 (GRCm39) K631R unknown Het
Plce1 T A 19: 38,761,423 (GRCm39) F2092I possibly damaging Het
Pms1 A G 1: 53,246,505 (GRCm39) S345P probably benign Het
Pom121l12 C A 11: 14,550,011 (GRCm39) P239H probably damaging Het
Prdm2 A G 4: 142,859,018 (GRCm39) I1424T probably benign Het
Prmt6 A G 3: 110,158,140 (GRCm39) Y50H probably damaging Het
Rbm39 T C 2: 155,996,195 (GRCm39) I397V probably benign Het
Rnf157 A G 11: 116,238,307 (GRCm39) V519A possibly damaging Het
Sec23a T C 12: 59,053,980 (GRCm39) E6G possibly damaging Het
Shank1 T C 7: 43,962,748 (GRCm39) probably null Het
Slfn3 A G 11: 83,105,505 (GRCm39) I378V probably benign Het
Smn1 T A 13: 100,267,303 (GRCm39) probably null Het
Snd1 T C 6: 28,874,975 (GRCm39) F632S possibly damaging Het
Sun5 T C 2: 153,698,131 (GRCm39) probably null Het
Tial1 T C 7: 128,046,614 (GRCm39) R209G probably benign Het
Trhde T C 10: 114,244,598 (GRCm39) I963V possibly damaging Het
Tssc4 G T 7: 142,623,932 (GRCm39) R80L possibly damaging Het
Ttn A T 2: 76,642,852 (GRCm39) N13261K probably damaging Het
Ugdh A T 5: 65,581,005 (GRCm39) probably null Het
Vmn1r218 A T 13: 23,321,472 (GRCm39) E273V probably benign Het
Vmn2r92 T A 17: 18,386,988 (GRCm39) F109Y possibly damaging Het
Zcchc7 A G 4: 44,931,398 (GRCm39) S196G probably benign Het
Zfp788 T A 7: 41,298,335 (GRCm39) C324S probably damaging Het
Zfp976 T C 7: 42,262,959 (GRCm39) T294A 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
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
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
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'- GTTGCAGGGGAATCAACCAC -3'
(R):5'- ATCCATTAGTGCTCACCTGGATC -3'

Sequencing Primer
(F):5'- GTTGCAGGGGAATCAACCACTAATC -3'
(R):5'- GGATCTCTATCACTCTCAAGAAATCC -3'
Posted On 2020-07-13