Mutagenetix > Incidental Mutation

Incidental Mutation 'R7699:Dmp1'

647866

Institutional Source

Beutler Lab

Gene Symbol

Dmp1

Ensembl Gene

ENSMUSG00000029307

Gene Name

dentin matrix protein 1

Synonyms

MMRRC Submission

045760-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7699 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104350479-104361968 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104359590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 89 (S89P)

Ref Sequence

ENSEMBL: ENSMUSP00000068053 (fasta)

Gene Model

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

AlphaFold

O55188

Predicted Effect

probably damaging
Transcript: ENSMUST00000066708
AA Change: S89P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000068053
Gene: ENSMUSG00000029307
AA Change: S89P

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

Coding Region Coverage

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

Validation Efficiency

99% (74/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	C	A	9: 90,070,792 (GRCm39)	P638T	probably damaging	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Bcl2l2	C	T	14: 55,121,836 (GRCm39)		probably benign	Het
Cacna1e	A	T	1: 154,319,674 (GRCm39)	I1404N	probably damaging	Het
Cdc42se1	A	G	3: 95,139,908 (GRCm39)	N35D	probably damaging	Het
Cep290	A	G	10: 100,376,231 (GRCm39)	S1447G	probably benign	Het
Chd6	T	A	2: 160,867,863 (GRCm39)	H436L	probably benign	Het
Cnbd2	T	C	2: 156,217,326 (GRCm39)	V605A	probably benign	Het
Col22a1	T	A	15: 71,845,700 (GRCm39)	D354V	probably damaging	Het
Col25a1	T	A	3: 130,316,128 (GRCm39)		probably null	Het
Cttnbp2	T	A	6: 18,514,734 (GRCm39)	M1L	possibly damaging	Het
Cux1	A	T	5: 136,514,593 (GRCm39)		probably null	Het
Cylc2	T	A	4: 51,229,335 (GRCm39)	S226T	unknown	Het
Cyp4b1	T	C	4: 115,499,162 (GRCm39)	D68G	probably benign	Het
Dicer1	A	C	12: 104,671,429 (GRCm39)	L947R	probably damaging	Het
Dpf1	A	G	7: 29,011,032 (GRCm39)	K144E	possibly damaging	Het
Emc1	T	A	4: 139,082,181 (GRCm39)	H94Q	probably benign	Het
Ep300	C	T	15: 81,470,594 (GRCm39)		probably benign	Het
Epha10	T	C	4: 124,796,440 (GRCm39)	I383T		Het
Epo	T	A	5: 137,483,438 (GRCm39)	E5D	probably benign	Het
Esp15	G	A	17: 39,955,624 (GRCm39)	V64I	possibly damaging	Het
Fbxl18	A	T	5: 142,871,504 (GRCm39)	V577E	probably damaging	Het
Fhl4	A	T	10: 84,934,113 (GRCm39)	C223S	probably damaging	Het
Fhl4	A	T	10: 84,934,379 (GRCm39)	I134N	probably benign	Het
Frmpd2	G	T	14: 33,264,895 (GRCm39)	M891I	probably benign	Het
Gk2	T	C	5: 97,604,257 (GRCm39)	I194V	probably benign	Het
Glt8d2	A	C	10: 82,498,122 (GRCm39)		probably null	Het
Gm12886	G	C	4: 121,273,876 (GRCm39)	H113Q	possibly damaging	Het
Hycc1	A	G	5: 24,120,494 (GRCm39)	S345P	probably damaging	Het
Ighv1-36	A	T	12: 114,843,646 (GRCm39)	Y71*	probably null	Het
Il18bp	A	G	7: 101,666,029 (GRCm39)	W50R	probably damaging	Het
Jmjd1c	T	A	10: 67,054,195 (GRCm39)	I33K	probably benign	Het
Lama5	C	T	2: 179,822,654 (GRCm39)	A2833T	probably damaging	Het
Manea	T	G	4: 26,340,758 (GRCm39)	N68T	probably benign	Het
Map1a	T	C	2: 121,130,201 (GRCm39)	L339P	probably damaging	Het
Mblac1	A	C	5: 138,192,919 (GRCm39)	D87A	probably damaging	Het
Mmp24	C	T	2: 155,640,096 (GRCm39)	T142I	probably damaging	Het
Mpp2	T	A	11: 101,950,261 (GRCm39)	H531L	probably damaging	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Mx1	T	A	16: 97,249,521 (GRCm39)	I339F	unknown	Het
Naip2	G	A	13: 100,296,877 (GRCm39)	T1053I	probably benign	Het
Nckap1l	A	G	15: 103,371,248 (GRCm39)		probably null	Het
Or51f23c-ps1	A	G	7: 102,431,529 (GRCm39)	Y282C	possibly damaging	Het
Or5an1b	T	C	19: 12,299,841 (GRCm39)	T117A	probably benign	Het
Otud7b	T	C	3: 96,063,280 (GRCm39)	F840L	probably damaging	Het
Pdzd8	T	C	19: 59,333,373 (GRCm39)	Y216C	probably damaging	Het
Pkd1l1	T	A	11: 8,915,142 (GRCm39)	I133F		Het
Plaur	A	G	7: 24,173,692 (GRCm39)	N221S	possibly damaging	Het
Plin4	T	C	17: 56,410,828 (GRCm39)	T1068A	probably benign	Het
Plxnd1	T	C	6: 115,936,755 (GRCm39)	D1659G	probably damaging	Het
Prpf8	T	A	11: 75,391,022 (GRCm39)	M1357K	probably benign	Het
Prr36	G	T	8: 4,263,989 (GRCm39)	T559N	unknown	Het
Prss46	A	G	9: 110,678,622 (GRCm39)	M2V	probably benign	Het
Rbpms	T	A	8: 34,354,391 (GRCm39)	E51D	probably damaging	Het
Rere	C	T	4: 150,701,555 (GRCm39)	R328W		Het
Retnla	T	A	16: 48,663,176 (GRCm39)	N26K	probably benign	Het
Rubcnl	G	A	14: 75,269,404 (GRCm39)	V21I	probably benign	Het
Safb	T	A	17: 56,908,504 (GRCm39)	S598R	unknown	Het
Sertad4	A	G	1: 192,529,175 (GRCm39)	S214P	possibly damaging	Het
Sin3a	C	T	9: 57,017,938 (GRCm39)	Q786*	probably null	Het
Slc8a3	A	C	12: 81,361,247 (GRCm39)	L524W	probably damaging	Het
Sp3	T	C	2: 72,801,573 (GRCm39)	T191A	probably benign	Het
Sp9	T	C	2: 73,103,724 (GRCm39)	S93P	probably damaging	Het
Tbrg1	A	C	9: 37,560,771 (GRCm39)	H368Q	probably benign	Het
Tinagl1	T	G	4: 130,061,832 (GRCm39)	Q198H	probably benign	Het
Usp19	C	T	9: 108,373,371 (GRCm39)	R648*	probably null	Het
Vmn2r124	A	G	17: 18,293,985 (GRCm39)	M691V	probably benign	Het
Vmn2r2	T	A	3: 64,024,536 (GRCm39)	M682L	possibly damaging	Het
Vps13d	T	A	4: 144,811,975 (GRCm39)	H3344L		Het
Vwa3a	G	A	7: 120,351,841 (GRCm39)	G35E	probably damaging	Het
Zfhx3	A	G	8: 109,677,754 (GRCm39)	S2935G	probably benign	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp758	C	A	17: 22,594,646 (GRCm39)	Y377*	probably null	Het
Zfp952	A	G	17: 33,220,983 (GRCm39)	K67R	possibly damaging	Het

Other mutations in Dmp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Dmp1	APN	5	104,358,021 (GRCm39)	splice site	probably benign
IGL01063:Dmp1	APN	5	104,354,965 (GRCm39)	start codon destroyed	probably null	0.73
IGL01599:Dmp1	APN	5	104,360,328 (GRCm39)	nonsense	probably null
IGL01631:Dmp1	APN	5	104,360,734 (GRCm39)	missense	probably benign	0.04
IGL01646:Dmp1	APN	5	104,359,731 (GRCm39)	missense	probably damaging	1.00
IGL02611:Dmp1	APN	5	104,360,380 (GRCm39)	missense	probably damaging	1.00
IGL02642:Dmp1	APN	5	104,359,536 (GRCm39)	missense	probably damaging	0.97
choppers	UTSW	5	104,354,991 (GRCm39)	missense	probably damaging	1.00
R0197:Dmp1	UTSW	5	104,355,496 (GRCm39)	missense	possibly damaging	0.82
R0494:Dmp1	UTSW	5	104,360,074 (GRCm39)	missense	probably damaging	1.00
R0529:Dmp1	UTSW	5	104,360,092 (GRCm39)	missense	probably benign	0.03
R0850:Dmp1	UTSW	5	104,360,653 (GRCm39)	missense	possibly damaging	0.86
R0883:Dmp1	UTSW	5	104,355,496 (GRCm39)	missense	possibly damaging	0.82
R1858:Dmp1	UTSW	5	104,355,496 (GRCm39)	missense	possibly damaging	0.92
R1869:Dmp1	UTSW	5	104,359,942 (GRCm39)	missense	probably damaging	1.00
R1995:Dmp1	UTSW	5	104,357,779 (GRCm39)	missense	possibly damaging	0.60
R2004:Dmp1	UTSW	5	104,359,790 (GRCm39)	missense	possibly damaging	0.73
R2009:Dmp1	UTSW	5	104,360,706 (GRCm39)	missense	probably damaging	0.97
R2870:Dmp1	UTSW	5	104,359,974 (GRCm39)	missense	probably benign	0.05
R2870:Dmp1	UTSW	5	104,359,974 (GRCm39)	missense	probably benign	0.05
R4716:Dmp1	UTSW	5	104,360,427 (GRCm39)	missense	probably damaging	0.99
R5687:Dmp1	UTSW	5	104,354,952 (GRCm39)	start gained	probably benign
R6331:Dmp1	UTSW	5	104,354,991 (GRCm39)	missense	probably damaging	1.00
R6389:Dmp1	UTSW	5	104,360,788 (GRCm39)	missense	probably damaging	1.00
R7006:Dmp1	UTSW	5	104,360,188 (GRCm39)	missense	probably benign	0.02
R7103:Dmp1	UTSW	5	104,359,729 (GRCm39)	missense	probably damaging	1.00
R8181:Dmp1	UTSW	5	104,359,380 (GRCm39)	splice site	probably null
R8350:Dmp1	UTSW	5	104,360,765 (GRCm39)	missense	probably damaging	0.99
R8379:Dmp1	UTSW	5	104,359,571 (GRCm39)	nonsense	probably null
R8450:Dmp1	UTSW	5	104,360,765 (GRCm39)	missense	probably damaging	0.99
R8531:Dmp1	UTSW	5	104,360,269 (GRCm39)	missense	probably damaging	1.00
R9316:Dmp1	UTSW	5	104,357,767 (GRCm39)	missense	probably benign	0.45
Z1177:Dmp1	UTSW	5	104,359,518 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CTGGGAGGGATTTTGGAGCC -3'
(R):5'- ATCTTGGGCACTGTTTTCTTGAG -3'

Sequencing Primer
(F):5'- GGATTTTGGAGCCTAGGGAAG -3'
(R):5'- AGAGGTGCTGTCTTCACTGGAC -3'

Posted On

2020-09-02