Mutagenetix > Incidental Mutation

Incidental Mutation 'R1680:Dpp9'

188455

Institutional Source

Beutler Lab

Gene Symbol

Dpp9

Ensembl Gene

ENSMUSG00000001229

Gene Name

dipeptidylpeptidase 9

Synonyms

DPRP2, 6430584G11Rik

MMRRC Submission

039716-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1680 (G1)

Quality Score

208

Status

Not validated

Chromosome

Chromosomal Location

56493807-56525905 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56497103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 710 (Y710H)

Ref Sequence

ENSEMBL: ENSMUSP00000046604 (fasta)

Gene Model

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

AlphaFold

Q8BVG4

Predicted Effect

probably benign
Transcript: ENSMUST00000038794
AA Change: Y710H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000046604
Gene: ENSMUSG00000001229
AA Change: Y710H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223616

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,439,390 (GRCm39)	P187R	probably damaging	Het
Ahnak	T	A	19: 8,987,327 (GRCm39)	H2870Q	probably benign	Het
Arhgef33	C	T	17: 80,655,080 (GRCm39)	S95F	probably damaging	Het
Atp1a2	T	A	1: 172,106,521 (GRCm39)	D827V	probably damaging	Het
Bcat1	T	G	6: 144,985,354 (GRCm39)	D96A	probably damaging	Het
Birc6	A	T	17: 74,855,741 (GRCm39)	I184L	probably benign	Het
Clca3b	A	T	3: 144,543,585 (GRCm39)	L415M	probably damaging	Het
Clstn1	T	C	4: 149,728,183 (GRCm39)	V617A	probably benign	Het
Col22a1	G	A	15: 71,671,210 (GRCm39)	A1050V	unknown	Het
Col5a3	C	T	9: 20,695,964 (GRCm39)		probably null	Het
Csmd3	G	A	15: 47,604,566 (GRCm39)	T1059I	probably damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dnm3	A	G	1: 161,838,545 (GRCm39)	V272A	probably benign	Het
Dnmt3a	A	G	12: 3,923,361 (GRCm39)	Q187R	probably damaging	Het
Eef1a2	A	T	2: 180,794,734 (GRCm39)	M155K	possibly damaging	Het
Entpd8	G	A	2: 24,974,036 (GRCm39)	C331Y	probably damaging	Het
Erc1	A	C	6: 119,552,722 (GRCm39)	L1072R	probably damaging	Het
Fhip2b	T	C	14: 70,824,291 (GRCm39)	Y482C	probably damaging	Het
Gtf3c2	A	G	5: 31,331,212 (GRCm39)	S155P	probably damaging	Het
Gucy2c	A	G	6: 136,699,491 (GRCm39)	S617P	probably damaging	Het
Ice1	T	C	13: 70,753,567 (GRCm39)	R840G	probably benign	Het
Il1rl2	T	C	1: 40,390,953 (GRCm39)	Y299H	possibly damaging	Het
Ints7	T	G	1: 191,353,274 (GRCm39)		probably null	Het
Ireb2	C	T	9: 54,788,802 (GRCm39)	T92I	probably damaging	Het
Itprid1	C	T	6: 55,945,751 (GRCm39)	T824I	probably damaging	Het
Kcnj8	A	T	6: 142,515,915 (GRCm39)	L64*	probably null	Het
Mapk8ip3	A	G	17: 25,119,985 (GRCm39)	V983A	probably damaging	Het
Mertk	A	G	2: 128,643,556 (GRCm39)	D985G	probably benign	Het
Mical3	A	T	6: 120,936,604 (GRCm39)	S1307R	probably benign	Het
Mtcl3	A	T	10: 29,072,835 (GRCm39)	Q709L	probably damaging	Het
Ncaph2	A	G	15: 89,248,825 (GRCm39)	D222G	probably benign	Het
Nf1	C	A	11: 79,441,824 (GRCm39)	S295*	probably null	Het
Nlrp12	T	A	7: 3,289,804 (GRCm39)	D236V	probably damaging	Het
Npnt	A	G	3: 132,612,563 (GRCm39)	V74A	probably benign	Het
Oasl1	A	G	5: 115,074,003 (GRCm39)	D304G	probably damaging	Het
Or52i2	A	G	7: 102,319,940 (GRCm39)	D271G	possibly damaging	Het
Or7g12	A	G	9: 18,899,812 (GRCm39)	H176R	possibly damaging	Het
Or8g22	T	C	9: 38,958,296 (GRCm39)	I140V	probably benign	Het
Or8h8	C	T	2: 86,753,505 (GRCm39)	V124I	probably benign	Het
Patz1	A	G	11: 3,257,812 (GRCm39)	K604E	probably damaging	Het
Pcsk6	T	A	7: 65,684,998 (GRCm39)	V793E	probably benign	Het
Pla2g4d	C	T	2: 120,108,231 (GRCm39)		probably null	Het
Plxnc1	A	C	10: 94,677,413 (GRCm39)	L938R	probably benign	Het
Pou4f2	G	T	8: 79,161,460 (GRCm39)	A381D	probably damaging	Het
Prdm4	A	G	10: 85,735,087 (GRCm39)	L685P	possibly damaging	Het
Pxn	T	A	5: 115,690,206 (GRCm39)	V383E	probably damaging	Het
Rbl1	A	G	2: 157,016,703 (GRCm39)	L632P	probably damaging	Het
Rnf135	T	A	11: 80,087,707 (GRCm39)	S219T	possibly damaging	Het
Sdk2	T	C	11: 113,682,262 (GRCm39)	D2039G	possibly damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Slc5a6	A	G	5: 31,199,988 (GRCm39)	Y131H	probably damaging	Het
Slc9a1	T	C	4: 133,145,391 (GRCm39)	I492T	probably damaging	Het
Spag5	A	G	11: 78,211,442 (GRCm39)	K993E	probably damaging	Het
Sptbn1	T	G	11: 30,109,371 (GRCm39)	I75L	possibly damaging	Het
Syngap1	T	C	17: 27,171,553 (GRCm39)	S46P	possibly damaging	Het
Tfcp2l1	T	A	1: 118,603,335 (GRCm39)	F458I	probably damaging	Het
Tmem67	A	G	4: 12,087,840 (GRCm39)	V102A	probably benign	Het
Tomm70a	T	C	16: 56,942,324 (GRCm39)	S34P	unknown	Het
Txlnb	G	T	10: 17,718,981 (GRCm39)	G604V	probably benign	Het
Ube2q1	A	G	3: 89,683,483 (GRCm39)	T143A	probably benign	Het
Unc80	C	T	1: 66,542,828 (GRCm39)	R361*	probably null	Het
Vcan	T	C	13: 89,851,666 (GRCm39)	D1098G	probably benign	Het
Vmn1r176	T	A	7: 23,534,806 (GRCm39)	T116S	probably damaging	Het
Wdr81	C	T	11: 75,345,249 (GRCm39)	R6K	probably benign	Het
Zan	T	A	5: 137,401,312 (GRCm39)	T4136S	unknown	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp606	A	T	7: 12,227,898 (GRCm39)	H615L	probably damaging	Het
Zp3r	A	T	1: 130,510,617 (GRCm39)	N433K	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
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
R9660:Dpp9	UTSW	17	56,494,458 (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'- GCAATGGCTACCTGGAAGACACAG -3'
(R):5'- ACTTGGCGTCTAAGAGCACACAG -3'

Sequencing Primer
(F):5'- TTAAGCTGCTCGGGGACAC -3'
(R):5'- GTCTAAGAGCACACAGGCTTTTC -3'

Posted On

2014-05-09