Mutagenetix > Incidental Mutation

Incidental Mutation 'R3619:Dpp6'

268554

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

040676-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R3619 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27022355-27932498 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27926118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 673 (S673P)

Ref Sequence

ENSEMBL: ENSMUSP00000113849 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071500] [ENSMUST00000101471] [ENSMUST00000120555] [ENSMUST00000122171]

AlphaFold

Q9Z218

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071500
AA Change: S676P

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000071435
Gene: ENSMUSG00000061576
AA Change: S676P

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

possibly damaging
Transcript: ENSMUST00000101471
AA Change: S675P

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099012
Gene: ENSMUSG00000061576
AA Change: S675P

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

possibly damaging
Transcript: ENSMUST00000120555
AA Change: S673P

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113849
Gene: ENSMUSG00000061576
AA Change: S673P

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 benign
Transcript: ENSMUST00000122171
AA Change: S731P

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113441
Gene: ENSMUSG00000061576
AA Change: S731P

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.3%
20x: 95.1%

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc82	T	A	9: 13,251,931 (GRCm39)	D74E	probably benign	Het
Chmp3	T	A	6: 71,554,809 (GRCm39)	I168N	probably damaging	Het
Dazap1	T	C	10: 80,121,194 (GRCm39)		probably benign	Het
Enpep	G	C	3: 129,077,807 (GRCm39)	S603R	possibly damaging	Het
Fgf11	T	C	11: 69,690,234 (GRCm39)	S118G	probably benign	Het
Foxi3	T	C	6: 70,934,047 (GRCm39)	L178P	probably damaging	Het
Gbx1	G	T	5: 24,731,111 (GRCm39)	P235Q	probably benign	Het
Gm8267	A	T	14: 44,961,513 (GRCm39)	M60K	possibly damaging	Het
Gnmt	G	A	17: 47,039,963 (GRCm39)	R39C	possibly damaging	Het
Hnrnpab	T	C	11: 51,493,438 (GRCm39)	N257D	possibly damaging	Het
Klhl31	G	T	9: 77,562,758 (GRCm39)	A508S	probably benign	Het
Lrif1	A	G	3: 106,639,862 (GRCm39)	K316E	probably damaging	Het
Magi3	A	T	3: 103,961,721 (GRCm39)	F436I	probably damaging	Het
Mef2a	G	A	7: 66,918,075 (GRCm39)	S111L	probably benign	Het
Micu1	T	C	10: 59,604,080 (GRCm39)		probably null	Het
Mpst	A	G	15: 78,294,322 (GRCm39)	E18G	probably damaging	Het
Npepps	G	T	11: 97,139,091 (GRCm39)	F160L	possibly damaging	Het
Or10al2	T	A	17: 37,983,531 (GRCm39)	F206I	probably benign	Het
Or5p81	A	T	7: 108,267,057 (GRCm39)	I145F	probably benign	Het
Orc6	T	C	8: 86,026,623 (GRCm39)		probably null	Het
Palm3	T	A	8: 84,755,973 (GRCm39)	V495E	probably benign	Het
Pam	A	G	1: 97,762,157 (GRCm39)	F809L	probably damaging	Het
Pcdh15	T	C	10: 74,479,227 (GRCm39)	V708A	probably benign	Het
Pcdha12	G	A	18: 37,153,757 (GRCm39)	D159N	probably damaging	Het
Plxna1	C	A	6: 89,334,435 (GRCm39)	A65S	probably damaging	Het
Ptprt	T	C	2: 161,408,077 (GRCm39)	Y945C	probably damaging	Het
Pym1	T	G	10: 128,601,073 (GRCm39)	V31G	probably damaging	Het
Stard9	C	T	2: 120,529,500 (GRCm39)	T1919I	possibly damaging	Het
Tas1r3	C	T	4: 155,945,410 (GRCm39)	V604I	probably damaging	Het
Ttc27	G	A	17: 75,058,123 (GRCm39)		probably null	Het
Wfdc6b	A	T	2: 164,456,826 (GRCm39)	Y46F	probably benign	Het
Zbtb48	A	T	4: 152,110,484 (GRCm39)		probably null	Het
Zfp385b	G	A	2: 77,246,233 (GRCm39)	P177S	probably benign	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
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'- GTCTCATTTATTGCCCAACAAGG -3'
(R):5'- CTGACTAGAGACTTCCCTCCTG -3'

Sequencing Primer
(F):5'- TGCCCAACAAGGATATTTAAAGTTC -3'
(R):5'- GACTTCCCTCCTGCCCCAG -3'

Posted On

2015-02-19