Incidental Mutation 'R9667:Dpp6'
ID 727838
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R9667 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 27022355-27932498 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 27930604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 812 (I812N)
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: I757N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071435
Gene: ENSMUSG00000061576
AA Change: I757N

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: I756N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099012
Gene: ENSMUSG00000061576
AA Change: I756N

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: I754N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113849
Gene: ENSMUSG00000061576
AA Change: I754N

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: I812N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113441
Gene: ENSMUSG00000061576
AA Change: I812N

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: 99.7%
  • 20x: 98.8%
Validation Efficiency
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik G A 9: 55,890,645 (GRCm39) Q355* probably null Het
Aacs A T 5: 125,580,691 (GRCm39) N255I possibly damaging Het
Abcf2 A G 5: 24,779,185 (GRCm39) L121P probably damaging Het
Amigo1 A G 3: 108,095,034 (GRCm39) I178V probably benign Het
Ankrd13a T A 5: 114,933,793 (GRCm39) N262K probably damaging Het
Apba2 A G 7: 64,345,062 (GRCm39) E84G possibly damaging Het
Arhgap35 A T 7: 16,296,914 (GRCm39) L717* probably null Het
Aspa A T 11: 73,199,625 (GRCm39) C217* probably null Het
Atp5mc3 A G 2: 73,739,567 (GRCm39) I91T probably damaging Het
Birc6 T C 17: 75,004,420 (GRCm39) M4763T possibly damaging Het
Cc2d2b A G 19: 40,753,927 (GRCm39) Y150C unknown Het
Ccdc180 C T 4: 45,920,861 (GRCm39) Q936* probably null Het
Cdc42bpg A G 19: 6,370,115 (GRCm39) E1103G probably benign Het
Cdca2 T C 14: 67,915,003 (GRCm39) Q752R probably benign Het
Ces1b A T 8: 93,791,637 (GRCm39) S321T probably benign Het
Cfap70 A T 14: 20,490,690 (GRCm39) probably null Het
Cpox C T 16: 58,490,984 (GRCm39) T65I possibly damaging Het
Crocc C T 4: 140,748,988 (GRCm39) E1606K probably damaging Het
Cryzl2 T G 1: 157,316,038 (GRCm39) M337R probably benign Het
Cyp4a29 C A 4: 115,111,630 (GRCm39) A469D probably damaging Het
Dnaaf1 T A 8: 120,306,043 (GRCm39) Y107N possibly damaging Het
Elovl5 A G 9: 77,889,947 (GRCm39) T253A possibly damaging Het
Fancd2 T A 6: 113,530,717 (GRCm39) L450* probably null Het
Fbxo31 C T 8: 122,305,208 (GRCm39) R96H probably damaging Het
Gls A T 1: 52,230,036 (GRCm39) probably null Het
Gm3045 G A 13: 56,577,253 (GRCm39) E134K possibly damaging Het
Gpr158 A G 2: 21,830,054 (GRCm39) I700V probably damaging Het
H2-Aa T C 17: 34,502,295 (GRCm39) I209V probably benign Het
Ifnar2 A G 16: 91,184,984 (GRCm39) D125G probably benign Het
Igsf8 C A 1: 172,145,319 (GRCm39) D278E possibly damaging Het
Inpp5d T C 1: 87,623,128 (GRCm39) I407T probably damaging Het
Iqcd A G 5: 120,744,737 (GRCm39) E355G probably damaging Het
Klra2 T A 6: 131,219,836 (GRCm39) D115V probably benign Het
Kmt2b T C 7: 30,287,784 (GRCm39) E120G unknown Het
Lhx6 A G 2: 35,980,979 (GRCm39) I321T possibly damaging Het
Lmna CAGCACGGTGCGTGAGC CAGC 3: 88,389,857 (GRCm39) probably null Het
Lztr1 T C 16: 17,327,000 (GRCm39) Y37H probably damaging Het
Malrd1 A T 2: 15,570,026 (GRCm39) probably null Het
Mtmr3 C T 11: 4,470,890 (GRCm39) V79I probably damaging Het
Nbr1 A G 11: 101,451,261 (GRCm39) I56M possibly damaging Het
Ncor2 C T 5: 125,125,545 (GRCm39) A580T unknown Het
Ndst3 A G 3: 123,353,866 (GRCm39) I601T possibly damaging Het
Nectin4 C A 1: 171,210,165 (GRCm39) P219Q probably damaging Het
Nfatc4 T C 14: 56,066,964 (GRCm39) V501A probably benign Het
Nisch T C 14: 30,895,646 (GRCm39) T1015A probably damaging Het
Nr2c1 T C 10: 94,017,479 (GRCm39) probably null Het
Nrg2 T C 18: 36,165,430 (GRCm39) E394G probably benign Het
Oas1e A G 5: 120,932,347 (GRCm39) F99L probably benign Het
Oaz3 A T 3: 94,341,835 (GRCm39) Y178* probably null Het
Or1e35 A G 11: 73,798,097 (GRCm39) S74P possibly damaging Het
Or6c69b A C 10: 129,627,022 (GRCm39) S145R probably damaging Het
Pcdhb20 C T 18: 37,637,839 (GRCm39) H122Y probably benign Het
Pdcd2 T A 17: 15,747,535 (GRCm39) M1L probably damaging Het
Phf11 T C 14: 59,482,240 (GRCm39) N171S probably benign Het
Plcd1 C A 9: 118,901,698 (GRCm39) G609W probably damaging Het
Plscr3 T C 11: 69,738,631 (GRCm39) F98L probably benign Het
Ppp1r8 T C 4: 132,570,407 (GRCm39) N6S probably benign Het
Prpf38b G A 3: 108,818,859 (GRCm39) probably benign Het
Rin2 T A 2: 145,702,202 (GRCm39) N299K possibly damaging Het
Serpina1d T G 12: 103,734,299 (GRCm39) T2P probably benign Het
Slc22a16 A G 10: 40,461,125 (GRCm39) D330G probably benign Het
Slit1 G A 19: 41,731,832 (GRCm39) Q6* probably null Het
Spaca7b T A 8: 11,705,681 (GRCm39) E142V probably benign Het
Spag9 T C 11: 93,887,119 (GRCm39) V8A possibly damaging Het
Spsb3 C T 17: 25,105,784 (GRCm39) T44I unknown Het
Srrt T C 5: 137,295,732 (GRCm39) Y563C probably damaging Het
Syne2 A G 12: 75,926,951 (GRCm39) D69G probably damaging Het
Tcf12 A G 9: 71,792,443 (GRCm39) V80A probably benign Het
Tdpoz3 G A 3: 93,733,336 (GRCm39) D4N possibly damaging Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tmem132d G A 5: 128,061,375 (GRCm39) T409I possibly damaging Het
Tmem245 G T 4: 56,947,119 (GRCm39) T98K probably damaging Het
Tmem70 A C 1: 16,735,659 (GRCm39) E43A probably benign Het
Trim25 A T 11: 88,907,188 (GRCm39) I516F probably damaging Het
Trim3 G A 7: 105,267,455 (GRCm39) S308L possibly damaging Het
Ttll9 C T 2: 152,831,989 (GRCm39) R189* probably null Het
Ttpal T C 2: 163,449,596 (GRCm39) probably null Het
Ubl4b A T 3: 107,461,911 (GRCm39) H116Q probably benign Het
Unc80 C A 1: 66,651,287 (GRCm39) T1544K possibly damaging Het
Usp2 T C 9: 44,003,487 (GRCm39) probably null Het
Usp25 T C 16: 76,874,123 (GRCm39) probably null Het
Vmn1r167 C T 7: 23,204,990 (GRCm39) V9I probably benign Het
Vmn2r87 A G 10: 130,314,776 (GRCm39) I270T probably damaging Het
Vps35l G A 7: 118,348,915 (GRCm39) probably null Het
Wdr24 A G 17: 26,046,301 (GRCm39) D515G possibly damaging Het
Wdr81 T C 11: 75,341,650 (GRCm39) T87A Het
Zcchc14 A T 8: 122,331,863 (GRCm39) L500Q unknown Het
Zzef1 A G 11: 72,758,786 (GRCm39) T1242A 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
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
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'- ACTACACCCACTGCCTTTGG -3'
(R):5'- TCTGTGCTTCGGTCTCAAG -3'

Sequencing Primer
(F):5'- GAGCTCTTGGGAAAACTGATCCTC -3'
(R):5'- CAAGCGTGGTTAGTCCTCC -3'
Posted On 2022-10-06