Incidental Mutation 'R7064:Dspp'
ID 548441
Institutional Source Beutler Lab
Gene Symbol Dspp
Ensembl Gene ENSMUSG00000053268
Gene Name dentin sialophosphoprotein
Synonyms Dpp, Dsp, Dmp3
MMRRC Submission 045160-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7064 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 104318578-104327993 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 104324804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 389 (D389A)
Ref Sequence ENSEMBL: ENSMUSP00000108391 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112771]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000112771
AA Change: D389A

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108391
Gene: ENSMUSG00000053268
AA Change: D389A

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat T C 8: 60,984,746 (GRCm39) I263T probably damaging Het
Adamtsl1 C T 4: 86,260,278 (GRCm39) P830S possibly damaging Het
Adrb1 T C 19: 56,711,456 (GRCm39) F218S probably damaging Het
Ahnak2 T C 12: 112,746,919 (GRCm39) probably benign Het
Arsj T A 3: 126,231,986 (GRCm39) V244E probably damaging Het
Atm T C 9: 53,419,181 (GRCm39) E757G probably benign Het
AU040320 A G 4: 126,685,865 (GRCm39) D147G probably benign Het
Btnl10 A T 11: 58,810,134 (GRCm39) M92L possibly damaging Het
Chd6 T C 2: 160,791,983 (GRCm39) D2458G probably damaging Het
Cntn3 T C 6: 102,250,772 (GRCm39) I259V probably damaging Het
Ctns A G 11: 73,077,218 (GRCm39) V250A probably benign Het
Cxxc1 T A 18: 74,353,678 (GRCm39) probably null Het
Cyp2a4 A T 7: 26,011,732 (GRCm39) M318L probably benign Het
Dchs1 A G 7: 105,412,392 (GRCm39) L1302P probably damaging Het
Decr1 C A 4: 15,945,392 (GRCm39) Het
Dmbx1 T C 4: 115,775,465 (GRCm39) N272D probably damaging Het
Dsel C A 1: 111,790,577 (GRCm39) probably benign Het
Ero1a T C 14: 45,544,049 (GRCm39) T52A probably damaging Het
Fam186a T C 15: 99,839,557 (GRCm39) E2229G unknown Het
Gabrd C T 4: 155,472,803 (GRCm39) V127M probably damaging Het
Gpc2 A T 5: 138,277,172 (GRCm39) F85Y probably damaging Het
Gucy2g A G 19: 55,198,764 (GRCm39) L793S probably benign Het
Irag1 C G 7: 110,495,061 (GRCm39) E455Q probably damaging Het
Itpr3 G C 17: 27,308,269 (GRCm39) G298R probably damaging Het
Kalrn A T 16: 34,038,261 (GRCm39) C1024S probably damaging Het
Krt40 T C 11: 99,430,954 (GRCm39) Y185C probably benign Het
Lmo7 G A 14: 102,121,615 (GRCm39) D227N probably damaging Het
Mmrn1 T A 6: 60,965,524 (GRCm39) L1184* probably null Het
Or10s1 T A 9: 39,986,109 (GRCm39) Y173N probably damaging Het
Or14j2 T A 17: 37,885,634 (GRCm39) R227W probably damaging Het
Or4c15 T A 2: 88,759,853 (GRCm39) M269L probably benign Het
Parp9 T G 16: 35,774,042 (GRCm39) V338G probably benign Het
Pcdh15 G A 10: 74,466,446 (GRCm39) E888K possibly damaging Het
Pcdh9 C T 14: 94,123,585 (GRCm39) E862K probably damaging Het
Prkdc A G 16: 15,608,317 (GRCm39) T3040A probably benign Het
Qser1 T C 2: 104,617,464 (GRCm39) E1026G probably damaging Het
Rnf20 C T 4: 49,644,580 (GRCm39) R282* probably null Het
Rpgrip1l T A 8: 91,990,148 (GRCm39) K765* probably null Het
Rprd2 G A 3: 95,672,328 (GRCm39) T1025M probably damaging Het
Scn4a A G 11: 106,212,983 (GRCm39) Y1341H possibly damaging Het
Scn5a C G 9: 119,318,977 (GRCm39) D1554H probably damaging Het
Septin14 T C 5: 129,774,870 (GRCm39) I102V probably benign Het
Septin4 A G 11: 87,481,193 (GRCm39) T378A probably benign Het
Siglec1 C T 2: 130,925,834 (GRCm39) G291R probably benign Het
Sik2 A G 9: 50,818,720 (GRCm39) V418A probably damaging Het
Slc9a5 A G 8: 106,076,078 (GRCm39) T24A possibly damaging Het
Spata31d1b T C 13: 59,863,955 (GRCm39) S368P probably benign Het
Stip1 T C 19: 7,012,925 (GRCm39) D53G probably benign Het
Stk36 T C 1: 74,649,979 (GRCm39) W245R probably damaging Het
Stk39 A T 2: 68,189,156 (GRCm39) probably null Het
Tacr2 T C 10: 62,097,276 (GRCm39) M252T probably damaging Het
Tasor C T 14: 27,194,288 (GRCm39) P1163S probably benign Het
Terb1 A T 8: 105,215,186 (GRCm39) N263K probably benign Het
Tgm5 T C 2: 120,883,995 (GRCm39) M333V probably benign Het
Tmem45a T C 16: 56,642,767 (GRCm39) M135V probably benign Het
Trmt13 T A 3: 116,376,346 (GRCm39) K348N probably damaging Het
Trmt2a A T 16: 18,070,868 (GRCm39) M534L probably damaging Het
Ttll13 G A 7: 79,906,778 (GRCm39) R513K probably null Het
Vmn1r228 T A 17: 20,997,285 (GRCm39) I78L probably benign Het
Washc3 T C 10: 88,081,635 (GRCm39) V173A possibly damaging Het
Zc2hc1b A T 10: 13,047,049 (GRCm39) C21S probably damaging Het
Zfp944 T A 17: 22,558,560 (GRCm39) H229L probably damaging Het
Zfp985 T A 4: 147,667,573 (GRCm39) I147N probably benign Het
Other mutations in Dspp
AlleleSourceChrCoordTypePredicted EffectPPH 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
R2001:Dspp UTSW 5 104,326,425 (GRCm39) missense unknown
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
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'- CATGAATCACTGCACTGACAGC -3'
(R):5'- CATCTCCTTGCATGGACTCG -3'

Sequencing Primer
(F):5'- GACAGCCTATACTCCTGTTCCTAAGG -3'
(R):5'- ATGGACTCGTCATCGAACTCG -3'
Posted On 2019-05-13