Mutagenetix > Incidental Mutation

Incidental Mutation 'R9310:Dpp6'

705457

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R9310 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26817203-27727505 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 27725644 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 825 (L825I)

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: L770I

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000071435
Gene: ENSMUSG00000061576
AA Change: L770I

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: L769I

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099012
Gene: ENSMUSG00000061576
AA Change: L769I

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: L767I

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113849
Gene: ENSMUSG00000061576
AA Change: L767I

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: L825I

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113441
Gene: ENSMUSG00000061576
AA Change: L825I

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: 98.7%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	T	C	8: 116,972,120	I83V	possibly damaging	Het
Abcf1	G	A	17: 35,961,729	A288V	probably null	Het
Acer1	A	T	17: 56,955,598	V184D	probably damaging	Het
Apoh	T	C	11: 108,407,481		probably null	Het
Arid1a	T	C	4: 133,686,314	Y959C	unknown	Het
Asb3	A	T	11: 31,028,962	H84L	probably benign	Het
Atxn1	A	C	13: 45,568,018	Y134D	probably damaging	Het
BC055324	A	G	1: 163,964,520	C610R	probably damaging	Het
Btbd1	T	C	7: 81,829,237	Y52C	probably damaging	Het
Cabp2	A	G	19: 4,086,464	D170G	probably damaging	Het
Cacna1a	C	A	8: 84,536,417	A407E	probably damaging	Het
Cacna2d4	T	A	6: 119,271,953		probably null	Het
Cc2d2a	T	C	5: 43,695,146	F404S	probably damaging	Het
Cdh20	T	C	1: 104,947,336	M281T	probably damaging	Het
Cfap54	A	T	10: 92,962,315	M1694K	unknown	Het
Chd6	G	T	2: 161,039,261	T261K	probably damaging	Het
Cnksr1	T	C	4: 134,229,019	S585G	probably damaging	Het
Cntnap2	A	T	6: 46,001,347	Y312F	probably damaging	Het
Coa7	T	A	4: 108,338,313	Y146*	probably null	Het
Col28a1	T	C	6: 8,175,414	K145E	unknown	Het
Coq8b	T	A	7: 27,242,061	I221N	probably damaging	Het
Cpd	A	T	11: 76,814,781	L375*	probably null	Het
Dnah5	T	C	15: 28,448,433	F4214S	probably damaging	Het
Dock2	A	G	11: 34,294,139	F1067S	possibly damaging	Het
Efcab5	A	G	11: 77,113,705	V929A	probably benign	Het
Ephx3	C	G	17: 32,189,316	D45H	probably benign	Het
Espl1	G	A	15: 102,296,850		probably null	Het
Gm4847	T	C	1: 166,632,712	R402G	probably benign	Het
Grid1	T	C	14: 35,026,805	L194S	probably damaging	Het
Heatr1	A	T	13: 12,438,610	H2122L	probably benign	Het
Il17b	T	A	18: 61,692,263	C123*	probably null	Het
Il17rc	T	C	6: 113,474,249	L181P	probably damaging	Het
Inpp5e	T	A	2: 26,397,928	I619L	probably benign	Het
Itgax	C	A	7: 128,142,260	Y814*	probably null	Het
Marcks	C	T	10: 37,136,491	E183K	unknown	Het
Mefv	T	C	16: 3,715,388	T340A	probably benign	Het
Mical2	A	G	7: 112,351,713	K958R	probably benign	Het
Mkl2	T	A	16: 13,401,090	D533E	probably benign	Het
Mtor	T	A	4: 148,469,377	L811Q	probably benign	Het
Myh4	A	G	11: 67,254,744	Y1351C	probably damaging	Het
Neb	T	C	2: 52,263,696	M2406V	probably benign	Het
Nebl	T	C	2: 17,348,867	T214A	probably benign	Het
Nlrx1	A	T	9: 44,253,408	I913N	probably damaging	Het
Npr2	G	T	4: 43,632,404	A74S	probably benign	Het
Olfr1220	T	A	2: 89,097,913	S5C	probably damaging	Het
Olfr711	C	A	7: 106,971,471	C291F	probably damaging	Het
Olfr794	T	A	10: 129,570,818	N54K	probably benign	Het
Pard3b	G	T	1: 62,166,369	V441F	probably damaging	Het
Pcsk1	G	A	13: 75,090,072	R4K	probably benign	Het
Pisd	G	T	5: 32,737,440	N337K	possibly damaging	Het
Pml	T	C	9: 58,249,662	K10R	probably benign	Het
Prkci	T	C	3: 31,029,515	W132R	probably damaging	Het
Prrc2a	A	T	17: 35,155,999	M1225K	probably benign	Het
Prss23	T	C	7: 89,509,934	D309G	probably damaging	Het
Pxdn	G	A	12: 30,002,052	G743S	probably damaging	Het
Rab29	A	T	1: 131,872,122	E145V	probably damaging	Het
Rasef	C	T	4: 73,735,719		probably null	Het
Rcbtb1	T	G	14: 59,235,250	I496S	probably benign	Het
Rcor1	T	C	12: 111,099,959	Y228H		Het
Reep5	C	T	18: 34,357,169	V92I	probably damaging	Het
Rfx3	T	C	19: 27,849,929	S86G	probably benign	Het
Rptn	T	A	3: 93,397,077	D572E	probably benign	Het
Rsl1	A	T	13: 67,176,446		probably null	Het
Sbf2	T	C	7: 110,315,085	E1630G	possibly damaging	Het
Sele	G	A	1: 164,049,406	V84I	probably benign	Het
Serpina1b	T	C	12: 103,732,497	D31G	probably benign	Het
Serpina3c	T	C	12: 104,149,554	I244V	probably benign	Het
Serpinb6e	A	G	13: 33,833,221	V272A	probably benign	Het
Serpinb9b	A	G	13: 33,035,540	D150G	probably benign	Het
Sgpp1	T	C	12: 75,722,600	T265A	probably benign	Het
Slc9a1	T	A	4: 133,416,370	M389K	probably damaging	Het
Slco3a1	A	T	7: 74,554,488	C35S	probably damaging	Het
Slco6d1	T	A	1: 98,499,894	V650E	possibly damaging	Het
Slit2	T	C	5: 48,192,226	V274A	possibly damaging	Het
Snd1	A	G	6: 28,795,937	E593G	probably null	Het
Spata2l	C	T	8: 123,234,134	V139M	probably benign	Het
Suco	T	C	1: 161,856,858	K231R	probably damaging	Het
Tenm3	C	A	8: 48,555,900		probably benign	Het
Tg	T	C	15: 66,827,269	S2415P	possibly damaging	Het
Traf6	C	A	2: 101,696,727	A274D	possibly damaging	Het
Usp14	A	G	18: 9,996,239	I447T	possibly damaging	Het
Usp32	G	A	11: 85,051,202	L355F	probably benign	Het
Vcpip1	T	C	1: 9,747,702	N152S	possibly damaging	Het
Vgf	A	G	5: 137,032,256	Q424R	probably benign	Het
Vmn2r84	A	T	10: 130,392,124	M81K	possibly damaging	Het
Washc5	G	A	15: 59,346,218	A732V	possibly damaging	Het
Wdr63	C	T	3: 146,097,140		probably null	Het
Xrcc3	T	G	12: 111,805,051	D213A	probably damaging	Het
Zeb2	T	C	2: 44,996,976	T690A	probably benign	Het
Zfat	G	A	15: 68,084,401	S1212L	probably damaging	Het
Zfp623	C	T	15: 75,948,100	L302F	probably damaging	Het
Zfp799	A	C	17: 32,820,759	C178G	possibly damaging	Het
Zfy1	T	C	Y: 727,634	E348G	unknown	Het
Zhx3	A	G	2: 160,779,473	W925R	possibly damaging	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
R7727:Dpp6	UTSW	5	27451244	missense	probably benign	0.30
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
R9320:Dpp6	UTSW	5	27663523	critical splice donor site	probably null
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'- GGCAGAGGCAAACTGTACAC -3'
(R):5'- AGACACATGCTATGGAATGCC -3'

Sequencing Primer
(F):5'- GAGGCAAACTGTACACAACACTG -3'
(R):5'- ATGCTATGGAATGCCCGCAC -3'

Posted On

2022-03-25