Incidental Mutation 'R2198:Dspp'
ID 238483
Institutional Source Beutler Lab
Gene Symbol Dspp
Ensembl Gene ENSMUSG00000053268
Gene Name dentin sialophosphoprotein
Synonyms Dpp, Dsp, Dmp3
MMRRC Submission 040200-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2198 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 104318578-104327993 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104323567 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 237 (T237S)
Ref Sequence ENSEMBL: ENSMUSP00000108391 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112771]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000112771
AA Change: T237S

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108391
Gene: ENSMUSG00000053268
AA Change: T237S

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (60/61)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1a T C 14: 66,875,385 (GRCm39) I120T probably damaging Het
Akr1c21 C T 13: 4,627,464 (GRCm39) P186L probably damaging Het
Alpk2 T C 18: 65,483,255 (GRCm39) K251R probably benign Het
Ank2 T C 3: 126,728,226 (GRCm39) E789G possibly damaging Het
Bag3 AAAGG AAAGGAAGG 7: 128,147,493 (GRCm39) probably null Het
Cacna2d4 T C 6: 119,324,220 (GRCm39) probably benign Het
Carf G A 1: 60,180,643 (GRCm39) R355H probably damaging Het
Cdh20 A T 1: 104,875,047 (GRCm39) probably null Het
Celf6 G T 9: 59,510,622 (GRCm39) L169F possibly damaging Het
Cep295nl A T 11: 118,223,419 (GRCm39) I475N probably benign Het
Chdh T A 14: 29,753,489 (GRCm39) S133T possibly damaging Het
Cnot6l C T 5: 96,227,800 (GRCm39) D478N possibly damaging Het
Ctnna3 C A 10: 64,838,524 (GRCm39) T867K probably benign Het
Ctse T G 1: 131,600,185 (GRCm39) Y311* probably null Het
Ddx60 T A 8: 62,411,097 (GRCm39) M453K possibly damaging Het
Dnah9 A G 11: 65,750,325 (GRCm39) F3927L possibly damaging Het
Dsg4 T C 18: 20,594,499 (GRCm39) S543P probably benign Het
Eml6 T G 11: 29,800,935 (GRCm39) H357P probably benign Het
Epha3 T C 16: 63,664,507 (GRCm39) I38V possibly damaging Het
Erap1 C T 13: 74,794,806 (GRCm39) T155I probably damaging Het
Erh T C 12: 80,689,559 (GRCm39) probably benign Het
F5 A T 1: 164,034,603 (GRCm39) K1834M probably damaging Het
Fyn A G 10: 39,405,541 (GRCm39) E269G probably benign Het
Gm4884 A G 7: 40,690,229 (GRCm39) T42A probably benign Het
Grm1 T G 10: 10,658,520 (GRCm39) R323S probably damaging Het
Gstt4 T C 10: 75,658,235 (GRCm39) D8G probably damaging Het
Gvin-ps3 T A 7: 105,682,758 (GRCm39) M166L probably benign Het
Ldlr A G 9: 21,643,698 (GRCm39) D94G probably damaging Het
Mrpl54 G A 10: 81,101,575 (GRCm39) probably null Het
Naip2 A T 13: 100,289,100 (GRCm39) F1210Y probably damaging Het
Nifk A G 1: 118,257,130 (GRCm39) R88G probably benign Het
Nlgn1 C T 3: 25,487,925 (GRCm39) M803I probably damaging Het
Or2r11 A G 6: 42,437,950 (GRCm39) M1T probably null Het
Or2y16 C T 11: 49,334,786 (GRCm39) S36F probably benign Het
Or6c88 T A 10: 129,406,915 (GRCm39) Y130* probably null Het
Or8g18 G A 9: 39,149,048 (GRCm39) T224I possibly damaging Het
Pip4k2a A T 2: 18,852,466 (GRCm39) M272K probably damaging Het
Ppp1cb G T 5: 32,640,704 (GRCm39) C139F probably damaging Het
Rad23b G A 4: 55,385,497 (GRCm39) G345R possibly damaging Het
Shc4 A T 2: 125,481,266 (GRCm39) V548E possibly damaging Het
Slc26a9 A G 1: 131,691,001 (GRCm39) probably benign Het
Slc8a1 T A 17: 81,715,685 (GRCm39) K783* probably null Het
Sobp A C 10: 42,898,520 (GRCm39) I355S possibly damaging Het
Thbs4 A G 13: 92,899,779 (GRCm39) Y491H possibly damaging Het
Tle2 T C 10: 81,426,147 (GRCm39) V727A probably damaging Het
Tmprss9 C T 10: 80,723,293 (GRCm39) P251L probably damaging Het
Tnks A T 8: 35,315,803 (GRCm39) D994E probably benign Het
Tnks C T 8: 35,340,221 (GRCm39) D466N probably benign Het
Tonsl A G 15: 76,520,872 (GRCm39) F394L probably benign Het
Trpa1 T A 1: 14,980,970 (GRCm39) Y144F probably benign Het
Usp22 A G 11: 61,050,163 (GRCm39) F324S probably damaging Het
Vmn1r78 G T 7: 11,886,487 (GRCm39) V33F probably benign Het
Wdr81 C T 11: 75,336,907 (GRCm39) R1494Q probably benign Het
Wdr87-ps G T 7: 29,226,697 (GRCm39) noncoding transcript Het
Zc3h14 G A 12: 98,719,068 (GRCm39) M144I probably damaging Het
Zc3h14 G A 12: 98,719,069 (GRCm39) V145M possibly damaging Het
Zfp82 T C 7: 29,756,936 (GRCm39) T49A 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
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'- ATGGAGATGCGACCCTTGTC -3'
(R):5'- CATTTGGGAAGCCTTCTTGTTC -3'

Sequencing Primer
(F):5'- TTGTCCAGGAAAATGAGCCTC -3'
(R):5'- GGAAGCCTTCTTGTTCTTTAGAATC -3'
Posted On 2014-10-02