Mutagenetix > Incidental Mutation

Incidental Mutation 'R2001:Dspp'

225921

Institutional Source

Beutler Lab

Gene Symbol

Dspp

Ensembl Gene

ENSMUSG00000053268

Gene Name

dentin sialophosphoprotein

Synonyms

Dpp, Dsp, Dmp3

MMRRC Submission

040011-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2001 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104318578-104327993 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104326425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 929 (S929R)

Ref Sequence

ENSEMBL: ENSMUSP00000108391 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112771]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000112771
AA Change: S929R

SMART Domains

Protein: ENSMUSP00000108391
Gene: ENSMUSG00000053268
AA Change: S929R

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	52	67	N/A	INTRINSIC
internal_repeat_1	82	245	2.01e-11	PROSPERO
low complexity region	247	268	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC
internal_repeat_1	285	438	2.01e-11	PROSPERO
internal_repeat_2	286	369	2.15e-10	PROSPERO
internal_repeat_2	370	454	2.15e-10	PROSPERO
low complexity region	456	472	N/A	INTRINSIC
low complexity region	481	944	N/A	INTRINSIC

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the small integrin-binding ligand N-linked glycoprotein (SIBLING) family of proteins. The encoded preproprotein is secreted by odontoblasts and proteolytically processed to generate two principal proteins of the dentin extracellular matrix of the tooth, dentin sialoprotein and dentin phosphoprotein. These two protein products may play distinct but related roles in dentin mineralization. Mice lacking the encoded protein exhibit hypomineralization defects in dentin, similar to human dentinogenesis imperfecta. [provided by RefSeq, Feb 2016]
PHENOTYPE: Aging mice homozygous for a reporter/null allele display tooth abnormalities, including enlarged pulp cavities, a widened predentin zone, dentin hypomineralization, pulp exposure, and occasional brittle incisors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,571,800 (GRCm39)	S559P	probably benign	Het
A430005L14Rik	T	A	4: 154,044,314 (GRCm39)	C42S	probably damaging	Het
Abca13	A	T	11: 9,223,967 (GRCm39)	T449S	probably benign	Het
Acvr1c	T	A	2: 58,205,987 (GRCm39)	Q41L	probably benign	Het
Adamts13	C	T	2: 26,864,002 (GRCm39)	P60L	probably benign	Het
Adamts20	T	C	15: 94,245,599 (GRCm39)	T568A	possibly damaging	Het
Ago1	T	C	4: 126,348,187 (GRCm39)	I44V	probably null	Het
Agtpbp1	TGAAGATGCATCTTGAGAAGA	TGAAGA	13: 59,623,617 (GRCm39)		probably null	Het
Ankrd28	A	T	14: 31,467,293 (GRCm39)	V39E	possibly damaging	Het
Apaf1	A	G	10: 90,897,676 (GRCm39)	V269A	possibly damaging	Het
Astn1	A	G	1: 158,348,091 (GRCm39)	N506D	probably damaging	Het
BC051019	G	A	7: 109,319,758 (GRCm39)	Q102*	probably null	Het
Bpifb5	A	G	2: 154,075,199 (GRCm39)	T376A	possibly damaging	Het
Ccdc121rt1	G	T	1: 181,338,551 (GRCm39)	Q134K	probably benign	Het
Ccl20	ATT	ATTT	1: 83,095,576 (GRCm39)		probably null	Het
Ccl6	G	T	11: 83,480,163 (GRCm39)	P68T	possibly damaging	Het
Cd300ld	A	T	11: 114,878,156 (GRCm39)	F119I	probably benign	Het
Cdk2ap2	A	G	19: 4,147,903 (GRCm39)	M57V	possibly damaging	Het
Cemip2	A	G	19: 21,779,351 (GRCm39)	D387G	probably benign	Het
Chkb	C	T	15: 89,312,969 (GRCm39)	G36E	probably damaging	Het
Col11a1	A	G	3: 113,958,942 (GRCm39)		probably null	Het
Ctla2b	T	C	13: 61,043,881 (GRCm39)	Y120C	probably damaging	Het
Ctnnd1	T	C	2: 84,450,704 (GRCm39)	N172S	probably benign	Het
Cyp2a22	G	A	7: 26,634,197 (GRCm39)	P319L	probably damaging	Het
Dcaf12	A	C	4: 41,302,804 (GRCm39)	V117G	probably damaging	Het
Ddx6	A	G	9: 44,518,831 (GRCm39)	T48A	probably benign	Het
Dgki	T	C	6: 36,842,736 (GRCm39)	D923G	possibly damaging	Het
Dhx37	G	T	5: 125,504,528 (GRCm39)	T345K	probably damaging	Het
Dhx9	A	T	1: 153,331,857 (GRCm39)	Y1370*	probably null	Het
Dnah7b	T	C	1: 46,181,247 (GRCm39)	S1045P	possibly damaging	Het
Dnmbp	G	C	19: 43,838,612 (GRCm39)	T1071S	possibly damaging	Het
Dst	A	T	1: 34,223,144 (GRCm39)	E1625D	probably damaging	Het
Egflam	T	A	15: 7,272,048 (GRCm39)	H630L	probably benign	Het
Elane	T	C	10: 79,723,593 (GRCm39)	V186A	possibly damaging	Het
Fam209	C	A	2: 172,314,689 (GRCm39)	N59K	probably benign	Het
Gbe1	A	G	16: 70,325,814 (GRCm39)	E617G	probably damaging	Het
Get3	T	C	8: 85,751,789 (GRCm39)	S36G	probably damaging	Het
Gfra1	A	G	19: 58,288,707 (GRCm39)	L246P	probably damaging	Het
Gria2	T	C	3: 80,618,112 (GRCm39)	T308A	probably benign	Het
Grip2	A	T	6: 91,756,831 (GRCm39)	V540D	probably benign	Het
Hhipl1	A	T	12: 108,288,118 (GRCm39)	I575F	possibly damaging	Het
Hmcn1	T	A	1: 150,614,364 (GRCm39)	E1347D	possibly damaging	Het
Itga2b	C	A	11: 102,358,165 (GRCm39)	A187S	probably benign	Het
Kalrn	C	A	16: 33,848,415 (GRCm39)	R469M	probably damaging	Het
Kif23	A	T	9: 61,834,666 (GRCm39)	C426*	probably null	Het
Lck	T	C	4: 129,442,730 (GRCm39)	N475S	probably benign	Het
Leng8	A	G	7: 4,148,073 (GRCm39)	N642S	probably damaging	Het
Lingo4	T	A	3: 94,310,382 (GRCm39)	I440N	probably damaging	Het
Lrrc4	A	G	6: 28,830,904 (GRCm39)	F237S	probably damaging	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Naip2	A	T	13: 100,281,096 (GRCm39)	I1316N	probably damaging	Het
Naip6	C	T	13: 100,437,237 (GRCm39)	G429S	probably benign	Het
Noct	C	T	3: 51,155,465 (GRCm39)	R78C	probably damaging	Het
Npbwr1	A	G	1: 5,987,394 (GRCm39)	V40A	possibly damaging	Het
Nsd2	A	G	5: 34,000,746 (GRCm39)	N88D	probably damaging	Het
Or1e29	T	A	11: 73,667,539 (GRCm39)	I205F	probably benign	Het
Or5ap2	T	A	2: 85,680,744 (GRCm39)	V316E	probably benign	Het
Or6c210	T	A	10: 129,496,290 (GRCm39)	I205N	probably benign	Het
Or8k28	T	C	2: 86,285,817 (GRCm39)	H266R	probably benign	Het
Pak5	T	A	2: 135,958,557 (GRCm39)	H177L	probably benign	Het
Pard3	C	T	8: 127,791,097 (GRCm39)		probably null	Het
Pde4c	A	G	8: 71,200,007 (GRCm39)		probably null	Het
Pde6h	T	A	6: 136,940,203 (GRCm39)	I63N	probably damaging	Het
Phldb2	T	C	16: 45,594,558 (GRCm39)	K916E	possibly damaging	Het
Ppig	T	C	2: 69,571,988 (GRCm39)	S236P	unknown	Het
Ptprd	T	C	4: 75,872,359 (GRCm39)	Y1370C	probably damaging	Het
Pzp	T	C	6: 128,493,083 (GRCm39)	T352A	probably benign	Het
Rab3gap1	A	G	1: 127,831,456 (GRCm39)	Y177C	possibly damaging	Het
Rasgef1a	G	A	6: 118,066,157 (GRCm39)	V457M	probably benign	Het
Scel	A	T	14: 103,848,226 (GRCm39)	T616S	possibly damaging	Het
Sel1l	A	T	12: 91,793,324 (GRCm39)	Y228*	probably null	Het
Sgms1	A	G	19: 32,137,083 (GRCm39)	V161A	possibly damaging	Het
Slfnl1	T	C	4: 120,390,424 (GRCm39)	L25P	probably benign	Het
Smad5	A	G	13: 56,885,187 (GRCm39)	T432A	probably damaging	Het
Sohlh2	T	C	3: 55,099,762 (GRCm39)		probably null	Het
Sphkap	A	T	1: 83,254,383 (GRCm39)	M835K	probably damaging	Het
Sqor	A	C	2: 122,640,018 (GRCm39)	T174P	probably damaging	Het
Stkld1	T	C	2: 26,842,759 (GRCm39)	V577A	probably damaging	Het
Sulf2	T	A	2: 165,922,773 (GRCm39)	E652D	probably benign	Het
Sycp2	T	A	2: 178,019,848 (GRCm39)	Q556L	probably benign	Het
Syk	A	G	13: 52,765,274 (GRCm39)	T134A	probably benign	Het
Tas2r122	T	A	6: 132,688,585 (GRCm39)	I103F	possibly damaging	Het
Tex10	A	G	4: 48,451,940 (GRCm39)	W729R	probably damaging	Het
Tex261	G	T	6: 83,750,713 (GRCm39)	P95T	probably damaging	Het
Tm2d2	T	C	8: 25,507,523 (GRCm39)	S47P	probably benign	Het
Tmem95	A	G	11: 69,767,817 (GRCm39)	S128P	probably damaging	Het
Tnxb	G	A	17: 34,911,553 (GRCm39)	A1619T	possibly damaging	Het
Trappc9	A	G	15: 72,929,885 (GRCm39)	I157T	probably damaging	Het
Unc13c	T	A	9: 73,390,897 (GRCm39)		probably null	Het
Upb1	A	T	10: 75,265,803 (GRCm39)	Y210F	probably damaging	Het
Urb1	T	C	16: 90,559,232 (GRCm39)	M1684V	probably benign	Het
Wnk2	G	A	13: 49,232,158 (GRCm39)	P727S	possibly damaging	Het
Zfp1004	T	A	2: 150,034,867 (GRCm39)	M396K	probably benign	Het
Zfp551	A	T	7: 12,150,276 (GRCm39)	S378T	probably damaging	Het
Zfp598	T	C	17: 24,888,898 (GRCm39)	V56A	possibly damaging	Het
Zfp945	C	T	17: 23,076,223 (GRCm39)		probably null	Het

Other mutations in Dspp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00973:Dspp	APN	5	104,324,758 (GRCm39)	missense	possibly damaging	0.95
IGL01096:Dspp	APN	5	104,323,233 (GRCm39)	missense	possibly damaging	0.92
IGL01317:Dspp	APN	5	104,321,914 (GRCm39)	missense	probably damaging	0.99
IGL02365:Dspp	APN	5	104,323,927 (GRCm39)	missense	probably damaging	1.00
IGL02387:Dspp	APN	5	104,323,490 (GRCm39)	missense	possibly damaging	0.82
IGL02406:Dspp	APN	5	104,325,232 (GRCm39)	nonsense	probably null
IGL02445:Dspp	APN	5	104,324,963 (GRCm39)	missense	probably damaging	0.99
IGL02481:Dspp	APN	5	104,323,514 (GRCm39)	missense	possibly damaging	0.94
IGL02536:Dspp	APN	5	104,323,531 (GRCm39)	missense	probably damaging	0.99
IGL02572:Dspp	APN	5	104,324,935 (GRCm39)	missense	probably damaging	0.99
IGL02677:Dspp	APN	5	104,323,843 (GRCm39)	missense	possibly damaging	0.78
IGL02709:Dspp	APN	5	104,325,116 (GRCm39)	missense	unknown
IGL02723:Dspp	APN	5	104,323,041 (GRCm39)	missense	probably benign	0.03
IGL02740:Dspp	APN	5	104,325,104 (GRCm39)	nonsense	probably null
IGL03274:Dspp	APN	5	104,322,814 (GRCm39)	missense	probably damaging	0.99
IGL03293:Dspp	APN	5	104,325,427 (GRCm39)	missense	unknown
FR4449:Dspp	UTSW	5	104,326,254 (GRCm39)	small deletion	probably benign
R0018:Dspp	UTSW	5	104,326,096 (GRCm39)	missense	unknown
R0125:Dspp	UTSW	5	104,325,905 (GRCm39)	missense	unknown
R0503:Dspp	UTSW	5	104,325,122 (GRCm39)	missense	unknown
R1709:Dspp	UTSW	5	104,323,590 (GRCm39)	missense	probably damaging	0.98
R1851:Dspp	UTSW	5	104,321,951 (GRCm39)	critical splice donor site	probably null
R2002:Dspp	UTSW	5	104,326,425 (GRCm39)	missense	unknown
R2198:Dspp	UTSW	5	104,323,567 (GRCm39)	missense	probably benign	0.37
R2279:Dspp	UTSW	5	104,326,250 (GRCm39)	missense	unknown
R4026:Dspp	UTSW	5	104,325,563 (GRCm39)	missense	unknown
R4066:Dspp	UTSW	5	104,325,060 (GRCm39)	missense	unknown
R4632:Dspp	UTSW	5	104,325,272 (GRCm39)	missense	unknown
R4693:Dspp	UTSW	5	104,325,928 (GRCm39)	missense	unknown
R4841:Dspp	UTSW	5	104,325,053 (GRCm39)	missense	unknown
R4841:Dspp	UTSW	5	104,325,052 (GRCm39)	missense	unknown
R4917:Dspp	UTSW	5	104,325,789 (GRCm39)	missense	unknown
R5008:Dspp	UTSW	5	104,323,439 (GRCm39)	missense	possibly damaging	0.66
R5015:Dspp	UTSW	5	104,324,926 (GRCm39)	missense	possibly damaging	0.46
R5214:Dspp	UTSW	5	104,326,364 (GRCm39)	missense	unknown
R5359:Dspp	UTSW	5	104,323,752 (GRCm39)	missense	probably damaging	0.98
R5538:Dspp	UTSW	5	104,323,096 (GRCm39)	nonsense	probably null
R5703:Dspp	UTSW	5	104,324,917 (GRCm39)	missense	possibly damaging	0.82
R5887:Dspp	UTSW	5	104,323,321 (GRCm39)	missense	probably damaging	1.00
R5902:Dspp	UTSW	5	104,325,977 (GRCm39)	missense	unknown
R5992:Dspp	UTSW	5	104,326,317 (GRCm39)	missense	unknown
R6019:Dspp	UTSW	5	104,325,905 (GRCm39)	missense	unknown
R6191:Dspp	UTSW	5	104,325,214 (GRCm39)	missense	unknown
R6362:Dspp	UTSW	5	104,323,900 (GRCm39)	missense	probably benign	0.19
R6736:Dspp	UTSW	5	104,326,041 (GRCm39)	missense	unknown
R6805:Dspp	UTSW	5	104,323,716 (GRCm39)	missense	probably benign	0.03
R7064:Dspp	UTSW	5	104,324,804 (GRCm39)	missense	possibly damaging	0.73
R7178:Dspp	UTSW	5	104,321,932 (GRCm39)	missense	probably benign	0.02
R7243:Dspp	UTSW	5	104,326,227 (GRCm39)	small deletion	probably benign
R7390:Dspp	UTSW	5	104,323,552 (GRCm39)	missense	probably damaging	0.98
R7454:Dspp	UTSW	5	104,323,476 (GRCm39)	missense	probably benign	0.01
R7585:Dspp	UTSW	5	104,323,391 (GRCm39)	missense	possibly damaging	0.90
R7662:Dspp	UTSW	5	104,325,736 (GRCm39)	missense	unknown
R7739:Dspp	UTSW	5	104,326,012 (GRCm39)	missense	unknown
R7755:Dspp	UTSW	5	104,326,227 (GRCm39)	small deletion	probably benign
R7805:Dspp	UTSW	5	104,323,259 (GRCm39)	missense	probably damaging	0.99
R7869:Dspp	UTSW	5	104,323,531 (GRCm39)	missense	probably damaging	0.99
R7945:Dspp	UTSW	5	104,326,227 (GRCm39)	small deletion	probably benign
R7978:Dspp	UTSW	5	104,326,227 (GRCm39)	small deletion	probably benign
R8088:Dspp	UTSW	5	104,325,122 (GRCm39)	missense	unknown
R8254:Dspp	UTSW	5	104,323,194 (GRCm39)	missense	possibly damaging	0.94
R8257:Dspp	UTSW	5	104,324,867 (GRCm39)	missense	probably benign	0.01
R8439:Dspp	UTSW	5	104,325,162 (GRCm39)	missense	unknown
R8486:Dspp	UTSW	5	104,321,883 (GRCm39)	start gained	probably benign
R8722:Dspp	UTSW	5	104,326,433 (GRCm39)	missense	unknown
R8969:Dspp	UTSW	5	104,325,640 (GRCm39)	missense	unknown
R9254:Dspp	UTSW	5	104,322,760 (GRCm39)	critical splice acceptor site	probably null
R9379:Dspp	UTSW	5	104,322,760 (GRCm39)	critical splice acceptor site	probably null
R9509:Dspp	UTSW	5	104,325,657 (GRCm39)	missense	unknown
R9647:Dspp	UTSW	5	104,323,636 (GRCm39)	missense	possibly damaging	0.89
RF007:Dspp	UTSW	5	104,326,227 (GRCm39)	small deletion	probably benign
RF044:Dspp	UTSW	5	104,326,290 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- CGACAGTAGTGACAGCAGTGAC -3'
(R):5'- TATGAGCTCCATGGGTTCCAC -3'

Sequencing Primer
(F):5'- TGACAGCAGTGACAGCAGC -3'
(R):5'- ATGGGTTCCACACAGTCTGC -3'

Posted On

2014-08-25