Mutagenetix > Incidental Mutation

Incidental Mutation 'R2870:Dmp1'

253553

Institutional Source

Beutler Lab

Gene Symbol

Dmp1

Ensembl Gene

ENSMUSG00000029307

Gene Name

dentin matrix protein 1

Synonyms

MMRRC Submission

040458-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2870 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104202613-104214102 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104212108 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 217 (S217G)

Ref Sequence

ENSEMBL: ENSMUSP00000068053 (fasta)

Gene Model

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

AlphaFold

O55188

Predicted Effect

probably benign
Transcript: ENSMUST00000066708
AA Change: S217G

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000068053
Gene: ENSMUSG00000029307
AA Change: S217G

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

Coding Region Coverage

1x: 99.6%
3x: 98.5%
10x: 94.1%
20x: 79.0%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444G20Rik	A	T	10: 22,067,379	I234N	probably benign	Het
Actrt3	A	G	3: 30,599,698	V51A	probably damaging	Het
Adgb	C	T	10: 10,431,281		probably null	Het
AI481877	A	C	4: 59,093,850	L226R	probably damaging	Het
Als2	A	G	1: 59,211,137	S483P	probably damaging	Het
Ankrd10	C	T	8: 11,615,682	R306H	probably damaging	Het
Arhgef10	T	C	8: 14,975,093		probably null	Het
Arhgef10	A	G	8: 14,975,666	I459V	probably benign	Het
Armc2	C	T	10: 41,966,700		probably null	Het
Atp12a	A	G	14: 56,386,950	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,550,021	Y87C	probably benign	Het
Cacna2d1	G	A	5: 16,312,568	C404Y	probably damaging	Het
Ccdc59	A	T	10: 105,841,527	K9M	possibly damaging	Het
Cd6	A	G	19: 10,794,626	I307T	possibly damaging	Het
Clasrp	C	A	7: 19,585,240		probably benign	Het
Csmd2	T	C	4: 128,557,718	F113S	unknown	Het
Csmd3	C	T	15: 47,857,924	G1437D	probably damaging	Het
Cyp4a14	C	A	4: 115,487,301	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,458,362	H260R	possibly damaging	Het
Dcp1b	C	T	6: 119,214,774	S217L	probably benign	Het
Dhx57	A	T	17: 80,251,376	D1051E	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,178,767		probably null	Het
Eif4enif1	C	T	11: 3,242,586	P805S	probably damaging	Het
Eral1	A	G	11: 78,076,278	I164T	possibly damaging	Het
Esr1	G	A	10: 4,997,890	R481H	probably damaging	Het
Fam19a2	A	T	10: 123,704,365	H42L	possibly damaging	Het
Fan1	A	G	7: 64,363,190	I668T	probably benign	Het
Gbp11	C	T	5: 105,331,000	D191N	probably benign	Het
Gria2	G	A	3: 80,702,492	T670I	probably damaging	Het
Gria4	T	A	9: 4,503,614	N334I	probably damaging	Het
Grm5	T	C	7: 87,602,722	V60A	possibly damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Ift172	C	T	5: 31,257,861	V1335I	probably benign	Het
Ino80d	C	T	1: 63,061,039		probably null	Het
Kif1c	A	G	11: 70,724,081	E567G	probably damaging	Het
Krt31	T	G	11: 100,047,873	N298T	possibly damaging	Het
Matr3	T	A	18: 35,572,296	S91R	probably benign	Het
Mdm1	A	G	10: 118,150,942	T267A	probably benign	Het
Mlxip	A	G	5: 123,452,667	M878V	probably benign	Het
Mmp1b	A	T	9: 7,386,875		silent	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Mtor	T	A	4: 148,540,030	M2089K	probably benign	Het
Mylk2	A	G	2: 152,919,348	K457R	probably damaging	Het
Nomo1	C	A	7: 46,046,937	T293N	probably damaging	Het
Odf3l2	G	A	10: 79,645,653	T14I	probably benign	Het
Olfr1080	T	C	2: 86,553,584	D180G	possibly damaging	Het
Olfr1510	T	G	14: 52,410,861	T4P	probably benign	Het
Olfr801	A	T	10: 129,669,759	C253*	probably null	Het
Ostc	T	C	3: 130,703,508	N80S	probably damaging	Het
Otud4	T	A	8: 79,661,073	N300K	possibly damaging	Het
Palmd	T	C	3: 116,923,751	R366G	possibly damaging	Het
Pcdhb20	A	T	18: 37,505,780	Q453L	possibly damaging	Het
Pcdhga9	T	A	18: 37,737,471	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,976,834	T372K	probably benign	Het
Plcl1	A	T	1: 55,697,150	D550V	probably benign	Het
Plekhg5	T	A	4: 152,107,503	C433S	probably benign	Het
Plin2	A	G	4: 86,668,678	M1T	probably null	Het
Ppp1r7	T	A	1: 93,357,863		probably null	Het
Psmb8	T	C	17: 34,200,170	I146T	probably damaging	Het
Pzp	A	T	6: 128,485,556		probably null	Het
Rel	T	C	11: 23,761,129	I13V	probably benign	Het
Reln	C	T	5: 22,049,791	V527I	possibly damaging	Het
Retnla	A	G	16: 48,843,612	R90G	probably benign	Het
Slc39a8	T	A	3: 135,886,793		probably null	Het
Slc5a8	A	G	10: 88,904,963	I247V	probably benign	Het
Spcs2	T	C	7: 99,839,761	D240G	probably damaging	Het
St5	A	T	7: 109,557,430	Y38N	probably benign	Het
Stx3	A	T	19: 11,789,574	V91D	probably damaging	Het
Tbc1d8	A	G	1: 39,405,317	F187S	probably damaging	Het
Thbs1	C	G	2: 118,119,378	N611K	probably damaging	Het
Tipin	A	C	9: 64,304,327	S232R	probably benign	Het
Tmem132b	A	G	5: 125,638,268	D347G	probably benign	Het
Vmn2r68	A	C	7: 85,233,626	M306R	probably benign	Het
Vwa7	G	A	17: 35,021,242	M395I	probably damaging	Het
Ybx3	G	A	6: 131,370,413	A253V	probably damaging	Het
Zfp53	A	T	17: 21,508,078	E124D	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
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
R7103:Dmp1	UTSW	5	104211863	missense	probably damaging	1.00
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'- CACAGTCCAGTGAAGACAGC -3'
(R):5'- TAGTCTTCCTCAGAGACGTGG -3'

Sequencing Primer
(F):5'- GTCCAGTGAAGACAGCACCTCTC -3'
(R):5'- TCAGAGACGTGGGACCTTCTG -3'

Posted On

2014-12-04