Mutagenetix > Incidental Mutation

Incidental Mutation 'R7103:Dmp1'

550984

Institutional Source

Beutler Lab

Gene Symbol

Dmp1

Ensembl Gene

ENSMUSG00000029307

Gene Name

dentin matrix protein 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104202613-104214102 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104211863 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 135 (D135V)

Ref Sequence

ENSEMBL: ENSMUSP00000068053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066708]

AlphaFold

O55188

Predicted Effect

probably damaging
Transcript: ENSMUST00000066708
AA Change: D135V

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

SMART Domains

Protein: ENSMUSP00000068053
Gene: ENSMUSG00000029307
AA Change: D135V

Domain	Start	End	E-Value	Type
Pfam:DMP1	1	503	9.8e-206	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dentin matrix acidic phosphoprotein is an extracellular matrix protein and a member of the small integrin binding ligand N-linked glycoprotein family. This protein, which is critical for proper mineralization of bone and dentin, is present in diverse cells of bone and tooth tissues. The protein contains a large number of acidic domains, multiple phosphorylation sites, a functional arg-gly-asp cell attachment sequence, and a DNA binding domain. In undifferentiated osteoblasts it is primarily a nuclear protein that regulates the expression of osteoblast-specific genes. During osteoblast maturation the protein becomes phosphorylated and is exported to the extracellular matrix, where it orchestrates mineralized matrix formation. Mutations in the gene are known to cause autosomal recessive hypophosphatemia, a disease that manifests as rickets and osteomalacia. The gene structure is conserved in mammals. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypophosphatemia, rickets, osteomalacia, renal phosphate-wasting, impaired osteocyte maturation, defective dentinogenesis, and severe alveolar bone and cementum defects leading to early periodontal breakdown. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,737,354	T294A	probably damaging	Het
Adamtsl2	G	A	2: 27,107,461	V893I	probably damaging	Het
Amph	T	A	13: 19,149,738	D656E	probably benign	Het
Aoah	T	C	13: 21,023,315	F568S	probably damaging	Het
Atr	G	A	9: 95,865,372	G236S	probably damaging	Het
Brd3	T	A	2: 27,450,394	Q601L	probably damaging	Het
Ccar2	T	C	14: 70,141,977	E524G	probably damaging	Het
Cog2	T	C	8: 124,541,114		probably null	Het
Csnka2ip	C	A	16: 64,478,757	V415F	unknown	Het
Dtna	T	C	18: 23,653,379		probably null	Het
Endou	A	G	15: 97,718,929	S238P	probably damaging	Het
Ep400	T	A	5: 110,733,785	E779D	unknown	Het
Fcgbp	A	G	7: 28,084,962	E149G	probably benign	Het
G6pc	C	A	11: 101,374,587		probably null	Het
Gm13119	C	T	4: 144,363,727	R446C	probably benign	Het
Gm9573	C	A	17: 35,621,540	A585S	unknown	Het
Gmeb1	T	C	4: 132,234,868	H160R	probably damaging	Het
Gramd1b	T	C	9: 40,401,606	Y22C	unknown	Het
Hcrtr2	C	T	9: 76,254,511	G199D	probably benign	Het
Hoxb2	T	C	11: 96,353,621	F353L	possibly damaging	Het
Itpr2	C	A	6: 146,325,074	V1391F	probably damaging	Het
Jakmip2	T	A	18: 43,540,583		probably null	Het
Kcnmb4	T	C	10: 116,473,259	Y88C	possibly damaging	Het
Kif1a	T	C	1: 93,077,785	Y89C	probably damaging	Het
Kif23	T	A	9: 61,919,892	K892N	probably damaging	Het
Lama3	T	A	18: 12,531,879	S646T	probably benign	Het
Lig3	T	A	11: 82,797,312	M709K	probably benign	Het
Mgea5	G	A	19: 45,783,166		probably benign	Het
Mindy3	C	A	2: 12,401,074	A137S	possibly damaging	Het
Mis18bp1	T	C	12: 65,149,283	E569G	possibly damaging	Het
Misp	T	A	10: 79,827,165	L472Q	probably damaging	Het
Mrps5	A	T	2: 127,601,410	T303S	probably damaging	Het
Msh3	T	G	13: 92,274,800	I630L	probably benign	Het
Myo16	A	G	8: 10,569,673	Y1408C	unknown	Het
N4bp2	T	C	5: 65,806,846	V746A	probably benign	Het
Olfr1225	A	G	2: 89,170,483	I243T	possibly damaging	Het
Olfr1423	A	G	19: 12,036,388	M118T	probably damaging	Het
Olfr477	A	G	7: 107,990,598	T78A	possibly damaging	Het
Ostf1	C	T	19: 18,596,351	M44I	probably null	Het
Pik3c2b	T	G	1: 133,105,974	L1572R	probably damaging	Het
Pilra	T	C	5: 137,831,226	D192G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,573,631	I3462V	probably benign	Het
Plekhh1	A	G	12: 79,066,655	D619G	probably benign	Het
Ptprb	T	A	10: 116,338,813	Y797N	probably damaging	Het
Rb1	T	C	14: 73,262,644	D521G	probably damaging	Het
Rnf17	T	G	14: 56,471,306	F728V	possibly damaging	Het
Slc16a4	T	C	3: 107,311,471	S463P	probably damaging	Het
Slc4a1	A	T	11: 102,353,867	I634K	probably damaging	Het
Slc4a1ap	T	C	5: 31,543,857	V634A	probably benign	Het
Spam1	A	G	6: 24,800,584	M441V	probably benign	Het
Teddm3	A	C	16: 21,152,979	L280*	probably null	Het
Tmem231	T	C	8: 111,918,885		probably null	Het
Tom1l1	T	C	11: 90,671,081		probably null	Het
Topors	C	T	4: 40,261,706	G526D	probably benign	Het
Trpm6	A	T	19: 18,813,547	I649F	possibly damaging	Het
Ttc16	T	A	2: 32,774,428	M66L	probably benign	Het
Tubgcp6	A	G	15: 89,101,029	F1619L	probably damaging	Het
Vps13d	G	T	4: 145,115,492	A2619E		Het
Vps8	G	A	16: 21,526,441	R838H	probably damaging	Het
Vwde	T	A	6: 13,215,800	M86L	probably benign	Het
Zfp64	A	T	2: 168,926,437	D418E	probably benign	Het
Zfp952	C	T	17: 33,003,632	P362S	possibly damaging	Het
Zglp1	T	C	9: 21,066,072	E149G	probably benign	Het

Other mutations in Dmp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Dmp1	APN	5	104210155	splice site	probably benign
IGL01063:Dmp1	APN	5	104207099	start codon destroyed	probably null	0.73
IGL01599:Dmp1	APN	5	104212462	nonsense	probably null
IGL01631:Dmp1	APN	5	104212868	missense	probably benign	0.04
IGL01646:Dmp1	APN	5	104211865	missense	probably damaging	1.00
IGL02611:Dmp1	APN	5	104212514	missense	probably damaging	1.00
IGL02642:Dmp1	APN	5	104211670	missense	probably damaging	0.97
choppers	UTSW	5	104207125	missense	probably damaging	1.00
R0197:Dmp1	UTSW	5	104207630	missense	possibly damaging	0.82
R0494:Dmp1	UTSW	5	104212208	missense	probably damaging	1.00
R0529:Dmp1	UTSW	5	104212226	missense	probably benign	0.03
R0850:Dmp1	UTSW	5	104212787	missense	possibly damaging	0.86
R0883:Dmp1	UTSW	5	104207630	missense	possibly damaging	0.82
R1858:Dmp1	UTSW	5	104207630	missense	possibly damaging	0.92
R1869:Dmp1	UTSW	5	104212076	missense	probably damaging	1.00
R1995:Dmp1	UTSW	5	104209913	missense	possibly damaging	0.60
R2004:Dmp1	UTSW	5	104211924	missense	possibly damaging	0.73
R2009:Dmp1	UTSW	5	104212840	missense	probably damaging	0.97
R2870:Dmp1	UTSW	5	104212108	missense	probably benign	0.05
R2870:Dmp1	UTSW	5	104212108	missense	probably benign	0.05
R4716:Dmp1	UTSW	5	104212561	missense	probably damaging	0.99
R5687:Dmp1	UTSW	5	104207086	start gained	probably benign
R6331:Dmp1	UTSW	5	104207125	missense	probably damaging	1.00
R6389:Dmp1	UTSW	5	104212922	missense	probably damaging	1.00
R7006:Dmp1	UTSW	5	104212322	missense	probably benign	0.02
R7699:Dmp1	UTSW	5	104211724	missense	probably damaging	1.00
R8181:Dmp1	UTSW	5	104211514	splice site	probably null
R8350:Dmp1	UTSW	5	104212899	missense	probably damaging	0.99
R8379:Dmp1	UTSW	5	104211705	nonsense	probably null
R8450:Dmp1	UTSW	5	104212899	missense	probably damaging	0.99
R8531:Dmp1	UTSW	5	104212403	missense	probably damaging	1.00
R9316:Dmp1	UTSW	5	104209901	missense	probably benign	0.45
Z1177:Dmp1	UTSW	5	104211652	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TACGACAGAGGCCAGTACAG -3'
(R):5'- ATCCCTTCATCATCGAACTCAG -3'

Sequencing Primer
(F):5'- AGGCCAGTACAGACCGG -3'
(R):5'- GAACTCAGAACCGTCCCCGTG -3'

Posted On

2019-05-15