Mutagenetix > Incidental Mutation

Incidental Mutation 'R6331:Dmp1'

510908

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 #

R6331 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104202613-104214102 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104207125 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 10 (L10P)

Ref Sequence

ENSEMBL: ENSMUSP00000068053 (fasta)

Gene Model

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

AlphaFold

O55188

Predicted Effect

probably damaging
Transcript: ENSMUST00000066708
AA Change: L10P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000068053
Gene: ENSMUSG00000029307
AA Change: L10P

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

Meta Mutation Damage Score

0.7372

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	G	A	18: 12,180,514	R228H	probably damaging	Het
9930021J03Rik	C	T	19: 29,717,747	V1449I	probably benign	Het
A2ml1	T	C	6: 128,552,236	D981G	probably damaging	Het
Abcc1	C	A	16: 14,465,056	A1132D	probably damaging	Het
Adamts12	A	G	15: 11,241,433	T364A	probably damaging	Het
Ahnak	A	T	19: 9,006,625	M1758L	probably benign	Het
Ak9	T	C	10: 41,382,829	V774A	probably damaging	Het
Ash1l	A	G	3: 89,007,865	E1934G	probably benign	Het
Atp2b2	C	T	6: 113,797,131	A341T	probably benign	Het
Bach2	G	T	4: 32,238,816		probably benign	Het
Ccdc102a	T	C	8: 94,911,516	T241A	probably benign	Het
Chd5	G	T	4: 152,382,408	R1627S	probably benign	Het
Clint1	T	C	11: 45,895,081	S322P	probably benign	Het
Dapk1	T	A	13: 60,729,442	C498*	probably null	Het
Diaph3	T	G	14: 86,866,540	S803R	probably damaging	Het
Gcc2	T	C	10: 58,271,465	V741A	probably benign	Het
Gldn	A	G	9: 54,286,878	M119V	probably benign	Het
Gucy1b1	A	G	3: 82,034,411	S574P	possibly damaging	Het
Hapln4	T	A	8: 70,084,423		probably benign	Het
Hars	A	G	18: 36,771,332	V209A	probably benign	Het
Htt	T	A	5: 34,895,887	F2521L	possibly damaging	Het
Kif14	A	G	1: 136,515,986	D1299G	probably null	Het
Krt25	T	A	11: 99,317,427	E325V	probably damaging	Het
Lcmt1	T	C	7: 123,378,182		probably benign	Het
Lrp1b	A	T	2: 40,803,209	N3266K	probably damaging	Het
Marc2	A	G	1: 184,819,328	S304P	probably damaging	Het
Mctp1	T	A	13: 77,020,863		probably null	Het
Myo5b	G	A	18: 74,616,993	A176T	probably damaging	Het
Myom3	A	G	4: 135,776,377	N379S	possibly damaging	Het
Nbea	A	T	3: 56,000,616	D1358E	possibly damaging	Het
Nod1	T	C	6: 54,924,983	E939G	probably damaging	Het
Obox1	A	G	7: 15,555,369	R70G	probably benign	Het
Olfr1024	T	C	2: 85,904,216	I279M	probably benign	Het
Olfr1239	C	T	2: 89,418,351	G21S	probably benign	Het
Olfr1341	A	G	4: 118,709,947	E180G	probably benign	Het
Olfr272	A	G	4: 52,911,399	Y132H	probably damaging	Het
Otof	T	C	5: 30,371,935	D1745G	possibly damaging	Het
Pklr	A	G	3: 89,137,355	I47V	probably damaging	Het
Pms2	T	A	5: 143,914,633	S123T	possibly damaging	Het
Pnpla2	T	C	7: 141,459,285	S337P	probably damaging	Het
Ptgfrn	A	C	3: 101,045,620	V766G	possibly damaging	Het
Ptpn11	T	A	5: 121,144,653	H419L	probably damaging	Het
Rims3	T	A	4: 120,883,153	V99E	probably damaging	Het
Samd9l	A	G	6: 3,376,361	V300A	probably damaging	Het
Sdad1	T	C	5: 92,303,930	D144G	probably damaging	Het
Siglecg	T	C	7: 43,408,754	Y22H	possibly damaging	Het
Slc39a1	A	G	3: 90,252,281	K305R	possibly damaging	Het
Slc5a4a	A	G	10: 76,178,200	R414G	probably damaging	Het
Smg1	T	C	7: 118,154,277		probably benign	Het
Tbc1d9b	C	T	11: 50,131,497	A20V	possibly damaging	Het
Tgfb3	G	T	12: 86,063,864	D237E	probably benign	Het
Tle6	A	G	10: 81,595,239	S234P	probably benign	Het
Tnrc6b	A	G	15: 80,879,614	N439S	probably benign	Het
Trim33	T	C	3: 103,341,609	S783P	probably benign	Het
Ttn	A	T	2: 76,802,354	Y12373N	probably damaging	Het
Tube1	G	A	10: 39,134,101	V7I	probably benign	Het
Tufm	T	C	7: 126,489,238	V265A	probably benign	Het
Uhrf1bp1	T	C	17: 27,893,201	I1150T	probably benign	Het
Usp32	T	C	11: 84,986,576	H1550R	possibly damaging	Het
Usp33	A	T	3: 152,376,250	M546L	probably damaging	Het
Uspl1	C	A	5: 149,214,287	Q752K	probably benign	Het
Vmn1r20	A	G	6: 57,431,670		probably null	Het
Vmn1r201	T	C	13: 22,475,351	F245S	probably damaging	Het
Vmn2r3	A	G	3: 64,278,761	S168P	probably damaging	Het
Wdr24	T	G	17: 25,825,676	D168E	possibly damaging	Het
Zfp646	C	T	7: 127,883,681	P1677S	probably damaging	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
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'- AAATGCAGTCTGTATTCTTCGC -3'
(R):5'- TCATAGTTGGGTGAACAAAGTTGG -3'

Sequencing Primer
(F):5'- GCTCTTTCACCCACATGTTCAGG -3'
(R):5'- ACAGAATAAGAAATAACTTGGCTGTG -3'

Posted On

2018-04-02