Incidental Mutation 'R5270:Dpp6'
| ID |
400181 |
| 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 |
042835-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R5270 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
27022355-27932498 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 27839532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 349
(S349L)
|
| 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: S294L
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000071435
Gene: ENSMUSG00000061576
AA Change: S294L
| Domain | Start | End | E-Value | Type |
|---|
|
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: S293L
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099012
Gene: ENSMUSG00000061576
AA Change: S293L
| Domain | Start | End | E-Value | Type |
|---|
|
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: S291L
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113849
Gene: ENSMUSG00000061576
AA Change: S291L
| Domain | Start | End | E-Value | Type |
|---|
|
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: S349L
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113441
Gene: ENSMUSG00000061576
AA Change: S349L
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
98% (59/60) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
T |
C |
19: 55,282,650 (GRCm39) |
V585A |
possibly damaging |
Het |
| Adam6a |
A |
T |
12: 113,507,747 (GRCm39) |
H40L |
possibly damaging |
Het |
| Adamts20 |
G |
A |
15: 94,180,400 (GRCm39) |
P1752S |
probably benign |
Het |
| Atp5if1 |
A |
G |
4: 132,260,611 (GRCm39) |
F27L |
probably damaging |
Het |
| B230104I21Rik |
A |
G |
4: 154,434,050 (GRCm39) |
|
probably benign |
Het |
| Ciz1 |
C |
A |
2: 32,264,511 (GRCm39) |
|
probably null |
Het |
| Crb1 |
T |
A |
1: 139,164,602 (GRCm39) |
Y1174F |
probably damaging |
Het |
| Csf2rb2 |
A |
T |
15: 78,176,182 (GRCm39) |
|
probably null |
Het |
| Cyp3a25 |
A |
T |
5: 145,918,312 (GRCm39) |
M433K |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,783,270 (GRCm39) |
I735V |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,026,778 (GRCm39) |
N1256K |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,483,244 (GRCm39) |
V255A |
probably damaging |
Het |
| Gabrb1 |
A |
T |
5: 72,265,669 (GRCm39) |
D155V |
probably damaging |
Het |
| Gpr35 |
A |
T |
1: 92,910,299 (GRCm39) |
T4S |
probably benign |
Het |
| Hcrt |
T |
C |
11: 100,652,823 (GRCm39) |
T64A |
probably damaging |
Het |
| Henmt1 |
G |
A |
3: 108,867,530 (GRCm39) |
R355H |
probably benign |
Het |
| Hrh1 |
C |
A |
6: 114,458,179 (GRCm39) |
R487S |
possibly damaging |
Het |
| Ints2 |
T |
C |
11: 86,106,621 (GRCm39) |
S930G |
probably damaging |
Het |
| Irs2 |
G |
A |
8: 11,056,678 (GRCm39) |
Q585* |
probably null |
Het |
| Kcns1 |
C |
A |
2: 164,010,249 (GRCm39) |
R170L |
probably benign |
Het |
| Kdm3b |
T |
C |
18: 34,960,467 (GRCm39) |
S1351P |
probably damaging |
Het |
| Ly9 |
T |
C |
1: 171,428,730 (GRCm39) |
T297A |
probably damaging |
Het |
| M6pr |
G |
A |
6: 122,292,048 (GRCm39) |
D127N |
possibly damaging |
Het |
| Macir |
T |
C |
1: 97,573,720 (GRCm39) |
Q115R |
probably damaging |
Het |
| Nhsl3 |
T |
C |
4: 129,118,005 (GRCm39) |
T208A |
possibly damaging |
Het |
| Nit2 |
G |
A |
16: 56,977,494 (GRCm39) |
P179S |
probably damaging |
Het |
| Per1 |
T |
C |
11: 68,994,424 (GRCm39) |
M516T |
probably benign |
Het |
| Pkdrej |
A |
T |
15: 85,702,528 (GRCm39) |
I1136N |
probably damaging |
Het |
| Pramel27 |
A |
G |
4: 143,578,468 (GRCm39) |
M243V |
probably damaging |
Het |
| Prdm9 |
G |
T |
17: 15,773,625 (GRCm39) |
T257K |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,552,819 (GRCm39) |
L2085P |
probably damaging |
Het |
| Rasgrf1 |
A |
C |
9: 89,908,747 (GRCm39) |
E1240D |
probably benign |
Het |
| Rrh |
T |
C |
3: 129,606,998 (GRCm39) |
I142V |
probably benign |
Het |
| Saal1 |
G |
T |
7: 46,351,157 (GRCm39) |
|
probably benign |
Het |
| Sdcbp2 |
A |
G |
2: 151,426,812 (GRCm39) |
I70V |
probably benign |
Het |
| Skida1 |
C |
A |
2: 18,052,460 (GRCm39) |
A231S |
probably benign |
Het |
| Smtnl2 |
T |
A |
11: 72,290,743 (GRCm39) |
T401S |
probably benign |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Spag4 |
G |
T |
2: 155,907,853 (GRCm39) |
|
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,960,283 (GRCm39) |
M179V |
probably benign |
Het |
| Tm9sf1 |
G |
T |
14: 55,873,938 (GRCm39) |
T520N |
probably damaging |
Het |
| Tmem163 |
G |
A |
1: 127,419,289 (GRCm39) |
|
probably benign |
Het |
| Vmn1r47 |
A |
T |
6: 89,999,525 (GRCm39) |
Q219L |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,258,528 (GRCm39) |
C539S |
probably damaging |
Het |
| Wdr17 |
G |
T |
8: 55,096,221 (GRCm39) |
S1024R |
probably benign |
Het |
| Zc3h4 |
A |
G |
7: 16,168,440 (GRCm39) |
T850A |
unknown |
Het |
| Zfa-ps |
A |
G |
10: 52,419,552 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp146 |
G |
T |
7: 29,861,900 (GRCm39) |
N47K |
probably benign |
Het |
| Zfp353-ps |
G |
T |
8: 42,534,572 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp607a |
A |
T |
7: 27,577,730 (GRCm39) |
K267* |
probably null |
Het |
|
| Other mutations in Dpp6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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'- AGCCCAAAGATCTCCTTGCC -3'
(R):5'- TGCTTGGAATCTAGCCATTGC -3'
Sequencing Primer
(F):5'- AAGCCAGCTTTGGTGAACTC -3'
(R):5'- CTTCAAGAAAGCCCATTCTGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation