Incidental Mutation 'R5015:Dspp'
ID 385491
Institutional Source Beutler Lab
Gene Symbol Dspp
Ensembl Gene ENSMUSG00000053268
Gene Name dentin sialophosphoprotein
Synonyms Dpp, Dsp, Dmp3
MMRRC Submission 042606-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5015 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 104318578-104327993 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104324926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 430 (I430L)
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: I430L

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000108391
Gene: ENSMUSG00000053268
AA Change: I430L

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: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 91.3%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 T A 8: 41,207,671 (GRCm39) F312L probably benign Het
Adprm A G 11: 66,932,856 (GRCm39) F18L possibly damaging Het
Ampd1 T G 3: 103,006,981 (GRCm39) N735K possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp1a4 T C 1: 172,081,649 (GRCm39) M168V probably damaging Het
Bcl6 G A 16: 23,793,600 (GRCm39) H116Y probably damaging Het
Bmpr2 T A 1: 59,890,383 (GRCm39) N338K probably damaging Het
Bms1 A T 6: 118,381,224 (GRCm39) Y697* probably null Het
Ccdc33 A C 9: 58,025,918 (GRCm39) F37C probably damaging Het
Ccdc60 T A 5: 116,426,507 (GRCm39) Q30L probably benign Het
Cndp1 C A 18: 84,650,036 (GRCm39) R219L probably damaging Het
Cstdc4 T C 16: 36,006,837 (GRCm39) probably null Het
Daam2 C A 17: 49,783,550 (GRCm39) D627Y probably damaging Het
Dffb T C 4: 154,057,416 (GRCm39) D87G possibly damaging Het
Dnah2 T G 11: 69,388,708 (GRCm39) T892P possibly damaging Het
Dqx1 A G 6: 83,043,092 (GRCm39) T610A probably benign Het
Dytn T A 1: 63,672,854 (GRCm39) K516N probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fmnl2 T A 2: 52,993,773 (GRCm39) N389K possibly damaging Het
Fn1 G A 1: 71,665,336 (GRCm39) T927I probably damaging Het
Foxn1 T C 11: 78,261,989 (GRCm39) K127E probably damaging Het
Fpr-rs6 A G 17: 20,402,608 (GRCm39) F251S probably damaging Het
Frrs1 A G 3: 116,672,088 (GRCm39) D62G probably damaging Het
Fut10 T A 8: 31,726,148 (GRCm39) V301D probably damaging Het
Gk5 A G 9: 96,059,470 (GRCm39) probably null Het
Glipr1l1 T A 10: 111,914,279 (GRCm39) N213K probably benign Het
Gm1110 A G 9: 26,793,162 (GRCm39) F538S probably benign Het
Gm7347 T A 5: 26,262,366 (GRCm39) T52S probably benign Het
Gsap T C 5: 21,427,406 (GRCm39) I178T probably damaging Het
H1f9 C A 11: 94,858,928 (GRCm39) N74K probably damaging Het
Hcn1 A T 13: 117,739,556 (GRCm39) Q106L unknown Het
Isg20l2 G T 3: 87,839,288 (GRCm39) L166F possibly damaging Het
Kcnq3 T A 15: 65,876,612 (GRCm39) E510D probably damaging Het
Kif26b G T 1: 178,755,895 (GRCm39) R2003L probably damaging Het
Kiss1r T C 10: 79,754,641 (GRCm39) V45A probably damaging Het
Krt14 G A 11: 100,098,032 (GRCm39) R84* probably null Het
Mbd5 T C 2: 49,148,208 (GRCm39) M806T possibly damaging Het
Mdga1 A T 17: 30,058,847 (GRCm39) I13N possibly damaging Het
Mfsd4b5 T C 10: 39,850,758 (GRCm39) K73E probably benign Het
Mterf2 C T 10: 84,955,596 (GRCm39) G343R probably benign Het
Mto1 T A 9: 78,368,903 (GRCm39) F522I probably benign Het
Myo18b T C 5: 112,937,923 (GRCm39) E1734G probably damaging Het
Myoz1 T C 14: 20,703,787 (GRCm39) T53A probably benign Het
Naxd T C 8: 11,563,032 (GRCm39) L324P probably damaging Het
Nos1 T A 5: 118,005,334 (GRCm39) V18D probably damaging Het
Nova1 T C 12: 46,863,738 (GRCm39) T71A unknown Het
Or10v5 T C 19: 11,805,482 (GRCm39) R303G probably benign Het
Or10z1 A G 1: 174,078,448 (GRCm39) L15S possibly damaging Het
Or1e29 C G 11: 73,668,007 (GRCm39) V49L probably benign Het
Or2j6 T C 7: 139,980,083 (GRCm39) D292G probably damaging Het
Or52b1 A G 7: 104,978,811 (GRCm39) V196A possibly damaging Het
Otof T A 5: 30,540,238 (GRCm39) Y981F probably damaging Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Pex1 A G 5: 3,670,597 (GRCm39) K7E probably damaging Het
Pi4ka A G 16: 17,120,946 (GRCm39) S73P possibly damaging Het
Plxnb1 T A 9: 108,929,498 (GRCm39) I118N possibly damaging Het
Prcc T C 3: 87,779,560 (GRCm39) D158G probably damaging Het
Ptpn7 C A 1: 135,066,877 (GRCm39) R245S possibly damaging Het
Ptpre C T 7: 135,270,861 (GRCm39) H346Y probably benign Het
Pwp2 A G 10: 78,018,527 (GRCm39) C86R probably benign Het
Rfng T G 11: 120,673,876 (GRCm39) D178A probably damaging Het
Rhpn1 T C 15: 75,580,090 (GRCm39) I51T probably damaging Het
Rnasel G T 1: 153,629,843 (GRCm39) E120* probably null Het
Sall2 T G 14: 52,553,112 (GRCm39) S26R possibly damaging Het
Scn10a A G 9: 119,451,987 (GRCm39) V1312A possibly damaging Het
Sdk2 C A 11: 113,684,587 (GRCm39) R1958L probably damaging Het
Septin4 C T 11: 87,458,043 (GRCm39) S139F possibly damaging Het
Slc52a2 T A 15: 76,424,751 (GRCm39) C330S probably damaging Het
Smarca2 T A 19: 26,668,788 (GRCm39) I987N possibly damaging Het
Srrt A T 5: 137,294,271 (GRCm39) Y486N probably damaging Het
Stat5b A T 11: 100,695,831 (GRCm39) N50K possibly damaging Het
Strip2 T A 6: 29,931,265 (GRCm39) D405E probably benign Het
Tcstv6 T A 13: 120,298,474 (GRCm39) probably null Het
Tnc A T 4: 63,924,739 (GRCm39) D986E probably damaging Het
Tph2 T C 10: 114,915,621 (GRCm39) N473S probably benign Het
Tpp1 C T 7: 105,401,232 (GRCm39) probably benign Het
Trpm3 T C 19: 22,689,076 (GRCm39) Y2H probably damaging Het
Ttc21a A T 9: 119,795,195 (GRCm39) E1072V probably damaging Het
Zfat T C 15: 68,050,762 (GRCm39) D753G probably damaging Het
Zmym2 T A 14: 57,159,051 (GRCm39) S609T probably damaging 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
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'- CTGAAGGTCCCAACAAAGGC -3'
(R):5'- CATGTGAGTCACTGTCATTGTCATC -3'

Sequencing Primer
(F):5'- GGTCCCAACAAAGGCAACAAAAG -3'
(R):5'- GAGTCACTGTCATTGTCATCATCAC -3'
Posted On 2016-05-10