Mutagenetix > Incidental Mutation

Incidental Mutation 'R7727:Dpp6'

595549

Institutional Source

Beutler Lab

Gene Symbol

Dpp6

Ensembl Gene

ENSMUSG00000061576

Gene Name

dipeptidylpeptidase 6

Synonyms

Rw, LOC384168, Peplb, Dpp-6, B930011P16Rik, In(5)6H-p

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R7727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26817203-27727505 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27451244 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 166 (T166A)

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: T111A

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000071435
Gene: ENSMUSG00000061576
AA Change: T111A

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 benign
Transcript: ENSMUST00000101471
AA Change: T110A

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099012
Gene: ENSMUSG00000061576
AA Change: T110A

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 benign
Transcript: ENSMUST00000120555
AA Change: T108A

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113849
Gene: ENSMUSG00000061576
AA Change: T108A

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: T166A

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113441
Gene: ENSMUSG00000061576
AA Change: T166A

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (69/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	C	A	6: 41,033,193	R69L	probably benign	Het
Adamts5	A	T	16: 85,899,966	L101Q	probably damaging	Het
Arhgap18	A	T	10: 26,870,011	I293F	possibly damaging	Het
Atp8b1	T	A	18: 64,545,275	Q850L	probably damaging	Het
B4galnt3	A	T	6: 120,225,187	F118Y	probably benign	Het
Bcl6	A	G	16: 23,971,413		probably null	Het
Cc2d2b	T	A	19: 40,756,530	L31Q	probably benign	Het
Cd5l	G	T	3: 87,367,855	E234*	probably null	Het
Cfap65	T	C	1: 74,926,625	T409A	probably benign	Het
Chst5	A	T	8: 111,890,925	I21N	probably benign	Het
Cldn20	T	C	17: 3,532,755	Y68H	probably benign	Het
Col4a4	T	C	1: 82,528,793	M269V	unknown	Het
Dgkh	A	G	14: 78,595,145		probably null	Het
Drosha	A	G	15: 12,881,645	D754G	probably damaging	Het
Epb41l4a	C	A	18: 33,854,273	K350N	probably damaging	Het
Fsd1	T	G	17: 55,988,150	D46E	probably benign	Het
Gabra1	T	C	11: 42,133,591	D419G	probably damaging	Het
Golga4	T	A	9: 118,548,702	D458E	probably damaging	Het
Grm6	C	A	11: 50,851,542	A134E	probably benign	Het
Ikzf1	T	A	11: 11,748,339	S63R	probably damaging	Het
Ilvbl	G	A	10: 78,576,666	V74I	probably benign	Het
Kcng2	C	T	18: 80,296,090	V328M	probably benign	Het
Kpna7	T	C	5: 145,005,045	E145G	probably benign	Het
Krt81	A	G	15: 101,459,567	V428A	probably damaging	Het
Lalba	T	C	15: 98,482,668	M2V	probably benign	Het
Lrpprc	T	C	17: 84,776,947	S113G	probably benign	Het
Mboat1	A	C	13: 30,226,306	M249L	probably benign	Het
Meltf	T	C	16: 31,883,794	V113A	probably damaging	Het
Muc16	T	A	9: 18,660,242	H327L	unknown	Het
Myh1	A	G	11: 67,215,922	I1277V	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548		probably benign	Het
Naga	C	A	15: 82,330,147	V388L	probably benign	Het
Nfkb1	A	C	3: 135,585,401	M957R	possibly damaging	Het
Nol12	C	A	15: 78,940,593	S157*	probably null	Het
Olfr1000	A	G	2: 85,608,407	F168L	possibly damaging	Het
Olfr1038-ps	A	T	2: 86,122,496	D191V	possibly damaging	Het
Olfr272	A	G	4: 52,911,368	V142A	possibly damaging	Het
Pcdhga5	T	C	18: 37,695,045	V182A	probably benign	Het
Pik3r4	A	G	9: 105,669,882	E953G	probably damaging	Het
Piwil2	C	T	14: 70,394,057	R646Q	probably damaging	Het
Plxnc1	T	C	10: 94,944,109	H157R	probably damaging	Het
Prrg4	A	T	2: 104,839,378	F131L	probably benign	Het
Rab28	A	G	5: 41,707,970	S4P	probably damaging	Het
Ranbp2	C	A	10: 58,455,438	Q209K	probably benign	Het
Schip1	G	A	3: 68,064,984	D15N	probably benign	Het
Serpina3f	T	G	12: 104,218,218	M207R	probably benign	Het
Sgsm1	A	T	5: 113,274,327	M487K	possibly damaging	Het
Sh3tc2	A	T	18: 61,989,580	I471F	probably benign	Het
Slamf1	G	A	1: 171,774,899	V65I	possibly damaging	Het
Slit3	T	C	11: 35,684,044	C1062R	probably damaging	Het
Snapc4	T	G	2: 26,373,434	K344N	probably damaging	Het
Sorl1	A	G	9: 41,984,526	Y1778H	probably damaging	Het
Spon2	G	A	5: 33,215,675	R228C	probably damaging	Het
Sv2c	A	G	13: 95,976,695	I582T	possibly damaging	Het
Tamm41	C	T	6: 115,016,178	V205M	probably damaging	Het
Tmem2	C	T	19: 21,829,957	L917F	probably benign	Het
Trpm2	T	C	10: 77,925,789	D1009G	probably benign	Het
Trpm6	T	C	19: 18,854,249	S1493P	probably damaging	Het
Ttc34	G	A	4: 154,839,274	V147I	possibly damaging	Het
Uba2	C	T	7: 34,150,850	A393T	probably damaging	Het
Ubn2	T	A	6: 38,463,938	N416K	probably benign	Het
Uevld	T	C	7: 46,943,805	N233S	probably benign	Het
Upp2	G	A	2: 58,774,148	M142I	possibly damaging	Het
Vps52	T	A	17: 33,962,134	V450D	probably benign	Het
Wdr31	A	T	4: 62,460,636	F118Y	probably damaging	Het
Zcchc6	A	G	13: 59,799,682	F942L	probably benign	Het
Zfp110	T	A	7: 12,848,995	D523E	possibly damaging	Het
Zfp367	A	T	13: 64,145,643	V143D	probably damaging	Het
Zfp950	T	C	19: 61,119,941	I235V	probably benign	Het

Other mutations in Dpp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00310:Dpp6	APN	5	27723443	missense	probably damaging	1.00
IGL01137:Dpp6	APN	5	27714488	missense	probably damaging	1.00
IGL01386:Dpp6	APN	5	27664762	critical splice donor site	probably null
IGL01409:Dpp6	APN	5	27557601	missense	probably damaging	1.00
IGL01721:Dpp6	APN	5	27631520	missense	probably damaging	1.00
IGL02149:Dpp6	APN	5	27538024	missense	probably benign	0.00
IGL02174:Dpp6	APN	5	27721087	nonsense	probably null
IGL02176:Dpp6	APN	5	27723577	missense	probably damaging	0.98
IGL02326:Dpp6	APN	5	27664757	missense	probably damaging	1.00
IGL02336:Dpp6	APN	5	27469411	missense	probably benign	0.04
IGL02339:Dpp6	APN	5	27652230	missense	probably damaging	0.97
IGL02402:Dpp6	APN	5	27634543	missense	probably damaging	1.00
IGL02884:Dpp6	APN	5	27634556	missense	possibly damaging	0.88
IGL02885:Dpp6	APN	5	27718473	missense	probably damaging	1.00
IGL02938:Dpp6	APN	5	27723367	splice site	probably benign
IGL03083:Dpp6	APN	5	27709550	critical splice donor site	probably null
I0000:Dpp6	UTSW	5	27398922	missense	probably benign	0.02
IGL03052:Dpp6	UTSW	5	27709508	missense	probably benign	0.03
PIT4431001:Dpp6	UTSW	5	27631498	missense	probably benign	0.03
R0060:Dpp6	UTSW	5	27598819	missense	probably damaging	1.00
R0360:Dpp6	UTSW	5	27652269	missense	probably damaging	1.00
R0486:Dpp6	UTSW	5	27661642	missense	probably benign	0.39
R0501:Dpp6	UTSW	5	27725606	missense	probably damaging	1.00
R1028:Dpp6	UTSW	5	27666427	missense	probably benign	0.01
R1164:Dpp6	UTSW	5	27721105	missense	probably benign	0.02
R1177:Dpp6	UTSW	5	27663473	missense	possibly damaging	0.94
R1993:Dpp6	UTSW	5	27399006	missense	probably benign	0.00
R2024:Dpp6	UTSW	5	27709459	missense	possibly damaging	0.67
R2100:Dpp6	UTSW	5	27664744	missense	probably damaging	0.96
R2329:Dpp6	UTSW	5	27451288	splice site	probably null
R3619:Dpp6	UTSW	5	27721120	missense	possibly damaging	0.74
R3871:Dpp6	UTSW	5	27469465	missense	probably benign	0.03
R3872:Dpp6	UTSW	5	27721058	missense	probably damaging	1.00
R4114:Dpp6	UTSW	5	27469487	critical splice donor site	probably null
R4403:Dpp6	UTSW	5	27718462	missense	probably damaging	1.00
R4599:Dpp6	UTSW	5	27634548	missense	probably damaging	1.00
R4736:Dpp6	UTSW	5	27712659	missense	probably damaging	1.00
R4929:Dpp6	UTSW	5	27049787	missense	probably benign	0.25
R4967:Dpp6	UTSW	5	27666511	missense	probably damaging	1.00
R5162:Dpp6	UTSW	5	27399015	unclassified	probably benign
R5270:Dpp6	UTSW	5	27634534	missense	probably damaging	0.98
R5334:Dpp6	UTSW	5	27709540	missense	probably benign	0.30
R5437:Dpp6	UTSW	5	27663501	nonsense	probably null
R5663:Dpp6	UTSW	5	27049622	missense	possibly damaging	0.84
R6023:Dpp6	UTSW	5	27723547	missense	probably damaging	0.96
R6244:Dpp6	UTSW	5	27049628	missense	probably damaging	0.99
R6312:Dpp6	UTSW	5	27725671	missense	possibly damaging	0.84
R6442:Dpp6	UTSW	5	27718509	critical splice donor site	probably null
R6942:Dpp6	UTSW	5	27469459	missense	possibly damaging	0.79
R6956:Dpp6	UTSW	5	27598821	missense	probably damaging	1.00
R7210:Dpp6	UTSW	5	27598803	missense	probably damaging	0.99
R7342:Dpp6	UTSW	5	27714554	missense	probably benign
R7702:Dpp6	UTSW	5	27652276	missense	probably benign	0.00
R7899:Dpp6	UTSW	5	27721079	missense	probably benign	0.03
R7966:Dpp6	UTSW	5	27723372	missense	probably benign	0.06
R8015:Dpp6	UTSW	5	26817810	start gained	probably benign
R8084:Dpp6	UTSW	5	27631399	missense	probably benign	0.32
R8178:Dpp6	UTSW	5	27598817	missense	probably damaging	1.00
R8384:Dpp6	UTSW	5	27718474	missense	probably benign	0.18
R8816:Dpp6	UTSW	5	27725713	missense	probably benign	0.07
R8936:Dpp6	UTSW	5	27721142	missense	probably damaging	1.00
R9090:Dpp6	UTSW	5	27598834	nonsense	probably null
R9164:Dpp6	UTSW	5	27451288	splice site	probably null
R9271:Dpp6	UTSW	5	27598834	nonsense	probably null
R9310:Dpp6	UTSW	5	27631441	missense	probably damaging	0.97
R9310:Dpp6	UTSW	5	27725644	missense	probably benign	0.11
R9320:Dpp6	UTSW	5	27663523	critical splice donor site	probably null
R9667:Dpp6	UTSW	5	27725606	missense	probably damaging	1.00
R9761:Dpp6	UTSW	5	27664745	missense	probably benign	0.38
Z1176:Dpp6	UTSW	5	27398998	missense	probably damaging	1.00
Z1177:Dpp6	UTSW	5	27712642	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTTTGTTGCCTGAACAGAG -3'
(R):5'- TTGCTCAGCCAGTGGTATTAC -3'

Sequencing Primer
(F):5'- TGCATTTAAAGGACCCCTCTCGAG -3'
(R):5'- CAGCCAGTGGTATTACAAGTTAATGC -3'

Posted On

2019-11-12