Mutagenetix > Incidental Mutation

Incidental Mutation 'R9660:Dpp9'

727546

Institutional Source

Beutler Lab

Gene Symbol

Dpp9

Ensembl Gene

ENSMUSG00000001229

Gene Name

dipeptidylpeptidase 9

Synonyms

DPRP2, 6430584G11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9660 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56493807-56525905 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56494458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 834 (Y834H)

Ref Sequence

ENSEMBL: ENSMUSP00000046604 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019723] [ENSMUST00000038794]

AlphaFold

Q8BVG4

Predicted Effect

probably benign
Transcript: ENSMUST00000019723

SMART Domains

Protein: ENSMUSP00000019723
Gene: ENSMUSG00000019579

Domain	Start	End	E-Value	Type
Pfam:UPF0556	11	166	4.8e-82	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000038794
AA Change: Y834H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046604
Gene: ENSMUSG00000001229
AA Change: Y834H

Domain	Start	End	E-Value	Type
low complexity region	122	133	N/A	INTRINSIC
Pfam:DPPIV_N	145	569	5.2e-109	PFAM
Pfam:Peptidase_S15	617	793	2.8e-10	PFAM
Pfam:Peptidase_S9	657	862	2.5e-57	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the S9B family in clan SC of the serine proteases. The protein has been shown to have post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Although the activity of this protein is similar to that of dipeptidyl peptidase 4 (DPP4), it does not appear to be membrane bound. In general, dipeptidyl peptidases appear to be involved in the regulation of the activity of their substrates and have been linked to a variety of diseases including type 2 diabetes, obesity and cancer. Several transcript variants of this gene have been described but not fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants display partial neonatal lethality and complete lethality at preweaning stages with defects suckling due to undeveveloped tongue muscle. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,851,478 (GRCm39)	M819V	probably benign	Het
Abca5	T	A	11: 110,168,248 (GRCm39)	T1461S	possibly damaging	Het
Actl6b	C	T	5: 137,562,766 (GRCm39)	R161C	probably damaging	Het
Aoc3	C	G	11: 101,221,914 (GRCm39)	P50R	possibly damaging	Het
Atr	G	A	9: 95,797,050 (GRCm39)	A1698T	probably benign	Het
Caml	T	A	13: 55,779,670 (GRCm39)	S248T	possibly damaging	Het
Cdh11	C	T	8: 103,384,879 (GRCm39)	G399S	possibly damaging	Het
Chrna10	G	T	7: 101,761,416 (GRCm39)	L392I	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Copg1	A	G	6: 87,879,225 (GRCm39)	I424V	probably damaging	Het
Cwh43	A	T	5: 73,565,629 (GRCm39)	N65Y	possibly damaging	Het
Defb1	A	G	8: 22,284,486 (GRCm39)	Y35C	probably damaging	Het
Disp2	T	C	2: 118,620,627 (GRCm39)	V453A	probably benign	Het
Emsy	A	G	7: 98,262,285 (GRCm39)	I598T	possibly damaging	Het
Entpd2	C	T	2: 25,288,153 (GRCm39)	R126C	probably damaging	Het
Fbxl17	A	T	17: 63,806,426 (GRCm39)	M196K	probably benign	Het
Gcc1	T	C	6: 28,420,544 (GRCm39)	R258G	probably damaging	Het
Gga2	A	T	7: 121,606,494 (GRCm39)	M157K	possibly damaging	Het
Gna11	T	C	10: 81,370,918 (GRCm39)	N106S	probably benign	Het
Gtf3c1	A	C	7: 125,262,199 (GRCm39)	S1116A	possibly damaging	Het
Gucy2d	C	A	7: 98,099,064 (GRCm39)	D294E	probably damaging	Het
Igkv12-46	G	T	6: 69,741,967 (GRCm39)	P4T	possibly damaging	Het
Iqcf5	A	T	9: 106,393,168 (GRCm39)	I142L	probably damaging	Het
Klhdc9	A	G	1: 171,187,357 (GRCm39)	S214P	probably damaging	Het
Kmt2e	T	C	5: 23,683,617 (GRCm39)	Y292H	probably damaging	Het
Lgr6	A	G	1: 134,915,245 (GRCm39)	L778P	probably damaging	Het
Lrrk2	A	G	15: 91,618,228 (GRCm39)	N909S	probably benign	Het
Ly75	A	G	2: 60,154,184 (GRCm39)	S1088P	probably damaging	Het
Mei1	G	A	15: 81,966,098 (GRCm39)	G240D		Het
Miox	A	T	15: 89,218,703 (GRCm39)		probably benign	Het
Myo1e	A	G	9: 70,223,924 (GRCm39)	Y128C	probably damaging	Het
Necab2	T	C	8: 120,189,403 (GRCm39)	V191A	possibly damaging	Het
Nlrp9a	T	A	7: 26,256,915 (GRCm39)	Y178N	probably damaging	Het
Nr4a3	A	G	4: 48,051,353 (GRCm39)	T36A	probably benign	Het
Nup210l	A	G	3: 90,105,402 (GRCm39)	T1517A	probably benign	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or4a27	T	C	2: 88,559,142 (GRCm39)	K267R	probably damaging	Het
Or4g17	T	G	2: 111,210,239 (GRCm39)	I298R	probably damaging	Het
Or4p23	T	C	2: 88,576,872 (GRCm39)	Y120C	probably damaging	Het
Or51h7	C	T	7: 102,591,259 (GRCm39)	C175Y	probably damaging	Het
Pcnx2	A	T	8: 126,487,592 (GRCm39)	S1804T	probably damaging	Het
Pdcd11	T	A	19: 47,082,191 (GRCm39)	V35D	possibly damaging	Het
Pde10a	C	A	17: 9,170,370 (GRCm39)	T347K	probably damaging	Het
Rcc1l	A	G	5: 134,182,977 (GRCm39)	Y432H	probably benign	Het
Rgs22	A	T	15: 36,040,856 (GRCm39)	V1001E	probably benign	Het
Ripor3	T	A	2: 167,831,646 (GRCm39)	D385V	probably damaging	Het
Rrbp1	T	C	2: 143,831,178 (GRCm39)	K330E	probably damaging	Het
Ryr3	T	G	2: 112,664,074 (GRCm39)	D1759A	probably benign	Het
Scube3	A	G	17: 28,371,414 (GRCm39)	D43G	probably benign	Het
Sec24b	A	G	3: 129,790,422 (GRCm39)	I701T	probably damaging	Het
Setd5	G	T	6: 113,128,366 (GRCm39)	V1440L	probably benign	Het
Sik3	A	G	9: 46,106,142 (GRCm39)	K337E	possibly damaging	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc1a6	T	A	10: 78,648,698 (GRCm39)	M473K	probably benign	Het
Spag16	A	G	1: 69,962,842 (GRCm39)	R330G	probably benign	Het
Spag6	C	A	2: 18,704,047 (GRCm39)	Q32K	probably benign	Het
Sspo	G	A	6: 48,432,707 (GRCm39)	G861D	probably damaging	Het
Togaram2	T	A	17: 72,024,365 (GRCm39)	S850T	probably damaging	Het
Trbv15	A	T	6: 41,118,550 (GRCm39)	E102V	possibly damaging	Het
Trim43b	G	T	9: 88,973,395 (GRCm39)	H113N	probably benign	Het
Trpm2	T	A	10: 77,766,389 (GRCm39)	I877L	probably benign	Het
Ttn	T	C	2: 76,599,152 (GRCm39)	I19286V	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Tubb6	A	G	18: 67,534,671 (GRCm39)	H190R	probably benign	Het
Vmn1r214	T	C	13: 23,219,007 (GRCm39)	V167A	probably benign	Het
Vwf	C	A	6: 125,568,670 (GRCm39)	L398I	possibly damaging	Het
Zfp9	G	T	6: 118,443,851 (GRCm39)	A58E	probably benign	Het

Other mutations in Dpp9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00895:Dpp9	APN	17	56,512,240 (GRCm39)	missense	probably damaging	0.99
IGL00920:Dpp9	APN	17	56,507,599 (GRCm39)	missense	probably benign	0.01
IGL01568:Dpp9	APN	17	56,498,159 (GRCm39)	missense	probably benign
IGL01583:Dpp9	APN	17	56,518,666 (GRCm39)	missense	probably benign	0.00
IGL01613:Dpp9	APN	17	56,497,713 (GRCm39)	missense	probably benign
IGL03371:Dpp9	APN	17	56,494,377 (GRCm39)	missense	probably benign	0.00
R0100:Dpp9	UTSW	17	56,512,854 (GRCm39)	missense	possibly damaging	0.75
R0100:Dpp9	UTSW	17	56,512,854 (GRCm39)	missense	possibly damaging	0.75
R0418:Dpp9	UTSW	17	56,501,404 (GRCm39)	splice site	probably benign
R1163:Dpp9	UTSW	17	56,506,426 (GRCm39)	missense	possibly damaging	0.90
R1680:Dpp9	UTSW	17	56,497,103 (GRCm39)	missense	probably benign	0.00
R1709:Dpp9	UTSW	17	56,501,431 (GRCm39)	missense	probably benign
R1762:Dpp9	UTSW	17	56,495,362 (GRCm39)	missense	probably damaging	1.00
R1809:Dpp9	UTSW	17	56,506,038 (GRCm39)	missense	probably damaging	1.00
R1853:Dpp9	UTSW	17	56,509,885 (GRCm39)	missense	probably benign	0.00
R1854:Dpp9	UTSW	17	56,509,885 (GRCm39)	missense	probably benign	0.00
R2162:Dpp9	UTSW	17	56,506,113 (GRCm39)	missense	possibly damaging	0.81
R2205:Dpp9	UTSW	17	56,506,287 (GRCm39)	missense	possibly damaging	0.87
R2301:Dpp9	UTSW	17	56,501,973 (GRCm39)	missense	probably benign	0.00
R2520:Dpp9	UTSW	17	56,513,868 (GRCm39)	missense	probably damaging	1.00
R3831:Dpp9	UTSW	17	56,506,113 (GRCm39)	missense	possibly damaging	0.81
R3833:Dpp9	UTSW	17	56,506,113 (GRCm39)	missense	possibly damaging	0.81
R4364:Dpp9	UTSW	17	56,494,391 (GRCm39)	missense	possibly damaging	0.79
R4737:Dpp9	UTSW	17	56,505,970 (GRCm39)	critical splice donor site	probably null
R4740:Dpp9	UTSW	17	56,505,970 (GRCm39)	critical splice donor site	probably null
R4741:Dpp9	UTSW	17	56,512,286 (GRCm39)	missense	probably benign
R4798:Dpp9	UTSW	17	56,498,016 (GRCm39)	missense	probably damaging	0.96
R4806:Dpp9	UTSW	17	56,497,030 (GRCm39)	missense	probably damaging	1.00
R5375:Dpp9	UTSW	17	56,496,424 (GRCm39)	nonsense	probably null
R5709:Dpp9	UTSW	17	56,496,393 (GRCm39)	missense	probably benign
R5783:Dpp9	UTSW	17	56,518,655 (GRCm39)	missense	probably damaging	0.98
R6454:Dpp9	UTSW	17	56,513,808 (GRCm39)	missense	probably damaging	1.00
R6532:Dpp9	UTSW	17	56,512,854 (GRCm39)	missense	possibly damaging	0.75
R6894:Dpp9	UTSW	17	56,495,321 (GRCm39)	missense	probably damaging	1.00
R7398:Dpp9	UTSW	17	56,496,405 (GRCm39)	nonsense	probably null
R7494:Dpp9	UTSW	17	56,507,619 (GRCm39)	missense	probably damaging	1.00
R7495:Dpp9	UTSW	17	56,502,044 (GRCm39)	missense	probably benign
R7511:Dpp9	UTSW	17	56,512,611 (GRCm39)	missense	possibly damaging	0.52
R7556:Dpp9	UTSW	17	56,497,012 (GRCm39)	missense	possibly damaging	0.66
R8228:Dpp9	UTSW	17	56,498,129 (GRCm39)	missense	probably damaging	1.00
R8481:Dpp9	UTSW	17	56,501,467 (GRCm39)	missense	possibly damaging	0.75
R8724:Dpp9	UTSW	17	56,512,867 (GRCm39)	missense	probably benign	0.03
R8798:Dpp9	UTSW	17	56,506,037 (GRCm39)	missense	probably damaging	1.00
R9209:Dpp9	UTSW	17	56,512,765 (GRCm39)	missense	probably damaging	1.00
R9666:Dpp9	UTSW	17	56,501,946 (GRCm39)	missense	probably damaging	0.99
X0065:Dpp9	UTSW	17	56,502,006 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CAGCAAGCAAATTGGAAGCTTC -3'
(R):5'- TGTCCGACTTGTCCATGGATG -3'

Sequencing Primer
(F):5'- CAAGCAAATTGGAAGCTTCAAAAATG -3'
(R):5'- CCTGAAATCACTTGTGGCTGACG -3'

Posted On

2022-10-06