Incidental Mutation 'IGL02021:Ddr1'
ID183964
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddr1
Ensembl Gene ENSMUSG00000003534
Gene Namediscoidin domain receptor family, member 1
SynonymsCak, CD167a
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.892) question?
Stock #IGL02021
Quality Score
Status
Chromosome17
Chromosomal Location35681567-35704621 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 35683480 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 801 (A801V)
Ref Sequence ENSEMBL: ENSMUSP00000133047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003628] [ENSMUST00000097333] [ENSMUST00000117301] [ENSMUST00000119825] [ENSMUST00000155628] [ENSMUST00000155957] [ENSMUST00000166980]
Predicted Effect probably damaging
Transcript: ENSMUST00000003628
AA Change: A801V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003628
Gene: ENSMUSG00000003534
AA Change: A801V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
FA58C 31 186 1.3e-36 SMART
low complexity region 218 236 N/A INTRINSIC
low complexity region 379 390 N/A INTRINSIC
transmembrane domain 415 437 N/A INTRINSIC
low complexity region 473 492 N/A INTRINSIC
low complexity region 520 530 N/A INTRINSIC
low complexity region 548 565 N/A INTRINSIC
TyrKc 608 903 3.9e-131 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000097333
AA Change: A764V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094945
Gene: ENSMUSG00000003534
AA Change: A764V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
FA58C 31 186 2.75e-34 SMART
low complexity region 218 236 N/A INTRINSIC
low complexity region 379 390 N/A INTRINSIC
transmembrane domain 415 437 N/A INTRINSIC
low complexity region 473 492 N/A INTRINSIC
low complexity region 511 528 N/A INTRINSIC
TyrKc 571 866 8.14e-129 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117301
AA Change: A801V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112570
Gene: ENSMUSG00000003534
AA Change: A801V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
FA58C 31 186 1.3e-36 SMART
low complexity region 218 236 N/A INTRINSIC
low complexity region 379 390 N/A INTRINSIC
transmembrane domain 415 437 N/A INTRINSIC
low complexity region 473 492 N/A INTRINSIC
low complexity region 520 530 N/A INTRINSIC
low complexity region 548 565 N/A INTRINSIC
TyrKc 608 903 4e-131 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000119825
AA Change: A801V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113062
Gene: ENSMUSG00000003534
AA Change: A801V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
FA58C 31 186 1.3e-36 SMART
low complexity region 218 236 N/A INTRINSIC
low complexity region 379 390 N/A INTRINSIC
transmembrane domain 415 437 N/A INTRINSIC
low complexity region 473 492 N/A INTRINSIC
low complexity region 520 530 N/A INTRINSIC
low complexity region 548 565 N/A INTRINSIC
TyrKc 608 903 3.9e-131 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155628
SMART Domains Protein: ENSMUSP00000133659
Gene: ENSMUSG00000003534

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
FA58C 31 186 2.75e-34 SMART
low complexity region 218 236 N/A INTRINSIC
Blast:FA58C 239 319 1e-45 BLAST
low complexity region 379 390 N/A INTRINSIC
transmembrane domain 415 437 N/A INTRINSIC
low complexity region 473 492 N/A INTRINSIC
low complexity region 511 528 N/A INTRINSIC
PDB:4CKR|A 562 584 3e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000155957
SMART Domains Protein: ENSMUSP00000117427
Gene: ENSMUSG00000003534

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
FA58C 31 186 2.75e-34 SMART
low complexity region 192 209 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166980
AA Change: A801V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133047
Gene: ENSMUSG00000003534
AA Change: A801V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
FA58C 31 186 1.3e-36 SMART
low complexity region 218 236 N/A INTRINSIC
low complexity region 379 390 N/A INTRINSIC
transmembrane domain 415 437 N/A INTRINSIC
low complexity region 473 492 N/A INTRINSIC
low complexity region 520 530 N/A INTRINSIC
low complexity region 548 565 N/A INTRINSIC
TyrKc 608 903 3.9e-131 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Receptor tyrosine kinases play a key role in the communication of cells with their microenvironment. These kinases are involved in the regulation of cell growth, differentiation and metabolism. The protein encoded by this gene belongs to a subfamily of tyrosine kinase receptors with homology to Dictyostelium discoideum protein discoidin I in their extracellular domain, and that are activated by various types of collagen. Expression of this protein is restricted to epithelial cells, particularly in the kidney, lung, gastrointestinal tract, and brain. In addition, it has been shown to be significantly overexpressed in several human tumors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous mutant mice are viable but smaller than control mice. Most mutant females are not able to give birth because developing blastocysts fail to implant. Successfully reproducing females show a lactation defect which is attributed to hyperproliferation and aberrant branching of mammary ducts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002L01Rik G A 12: 3,407,890 probably benign Het
Adam10 C T 9: 70,743,909 T72I possibly damaging Het
Adam26b T A 8: 43,519,872 M698L probably benign Het
Ankrd27 A T 7: 35,614,456 H404L probably damaging Het
Atp1a1 T C 3: 101,594,208 S60G probably benign Het
Bcat1 T C 6: 145,047,289 probably benign Het
Cd177 G A 7: 24,745,206 A650V probably benign Het
Cmya5 T C 13: 93,094,549 N1344D probably benign Het
Ctsd G T 7: 142,385,476 L71I probably damaging Het
Dctn2 T C 10: 127,275,057 probably null Het
Duoxa1 A G 2: 122,304,646 F251S probably benign Het
Fcho1 A C 8: 71,721,275 S2A probably benign Het
Gm4861 T C 3: 137,552,110 probably null Het
Gm4922 C A 10: 18,784,477 G166W probably damaging Het
Hic2 A G 16: 17,258,753 E482G probably benign Het
Hoxa5 C T 6: 52,202,657 R246K probably damaging Het
Ipo11 A T 13: 106,857,237 F721I probably damaging Het
Lama1 A T 17: 67,821,626 S2993C probably damaging Het
Lonp2 T A 8: 86,708,971 S612T probably benign Het
Lpar5 T G 6: 125,081,992 Y225* probably null Het
Map4k3 A G 17: 80,609,826 Y574H probably damaging Het
Msantd4 A G 9: 4,385,163 E296G probably damaging Het
Ncs1 A G 2: 31,284,165 D109G probably damaging Het
Nnt T C 13: 119,336,247 probably benign Het
Nr1h5 T C 3: 102,947,742 probably benign Het
Olfr1288 A G 2: 111,479,480 D232G probably benign Het
Olfr704 A T 7: 106,865,489 K170* probably null Het
Plk4 A G 3: 40,810,708 D595G probably damaging Het
Rbm17 C A 2: 11,595,438 probably benign Het
Slc24a3 T A 2: 145,518,916 I193N probably damaging Het
St5 T C 7: 109,557,372 Y57C probably damaging Het
Stat5a G T 11: 100,883,889 V759F probably damaging Het
Tgfbi T A 13: 56,631,353 L463Q probably damaging Het
Tigar G T 6: 127,089,290 A95E probably damaging Het
Tph1 A G 7: 46,656,997 I180T possibly damaging Het
Usp22 T A 11: 61,154,499 Y517F probably damaging Het
Vmn2r105 A C 17: 20,227,895 I222M possibly damaging Het
Wapl A G 14: 34,722,336 I582V probably benign Het
Zfp217 A G 2: 170,115,149 V643A probably benign Het
Other mutations in Ddr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02126:Ddr1 APN 17 35688589 missense probably damaging 0.99
IGL02167:Ddr1 APN 17 35690071 missense possibly damaging 0.55
IGL02250:Ddr1 APN 17 35683480 missense probably damaging 1.00
IGL02251:Ddr1 APN 17 35683480 missense probably damaging 1.00
IGL02367:Ddr1 APN 17 35683480 missense probably damaging 1.00
PIT4449001:Ddr1 UTSW 17 35687249 missense possibly damaging 0.54
R0538:Ddr1 UTSW 17 35685007 missense probably damaging 1.00
R0674:Ddr1 UTSW 17 35689669 nonsense probably null
R4829:Ddr1 UTSW 17 35685113 missense probably damaging 1.00
R4940:Ddr1 UTSW 17 35690130 missense probably damaging 1.00
R5085:Ddr1 UTSW 17 35682775 critical splice acceptor site probably null
R5112:Ddr1 UTSW 17 35682485 missense probably benign
R5124:Ddr1 UTSW 17 35683597 missense probably damaging 1.00
R5652:Ddr1 UTSW 17 35686508 missense probably benign
R5653:Ddr1 UTSW 17 35686508 missense probably benign
R5654:Ddr1 UTSW 17 35686508 missense probably benign
R6427:Ddr1 UTSW 17 35687222 missense probably benign
R7226:Ddr1 UTSW 17 35691147 missense possibly damaging 0.94
R7405:Ddr1 UTSW 17 35690100 missense probably damaging 1.00
R7534:Ddr1 UTSW 17 35682622 critical splice donor site probably null
R7568:Ddr1 UTSW 17 35684282 missense probably damaging 1.00
R8010:Ddr1 UTSW 17 35691492 missense possibly damaging 0.93
Posted On2014-05-07