Incidental Mutation 'IGL02251:Ddr1'
ID286379
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: 0.901) question?
Stock #IGL02251
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A G 7: 45,977,416 C1406R probably damaging Het
Acp2 T A 2: 91,208,333 probably null Het
Antxr2 A C 5: 97,977,595 probably null Het
Arhgef11 C T 3: 87,683,547 R32C probably damaging Het
Armc6 A T 8: 70,225,220 L153* probably null Het
Btnl2 G T 17: 34,363,239 G260* probably null Het
Ccnf A G 17: 24,226,539 S551P probably benign Het
Cdh19 A G 1: 110,954,652 S37P probably benign Het
Cntnap3 T A 13: 64,762,036 T752S probably damaging Het
Crispld1 A G 1: 17,728,840 M62V probably benign Het
Dner G T 1: 84,384,026 Q621K probably damaging Het
Dph6 A G 2: 114,535,523 probably null Het
Dpp3 T G 19: 4,918,315 H243P probably benign Het
Eif3j2 T A 18: 43,477,366 K127N probably damaging Het
Esrp1 G A 4: 11,361,202 R315C probably damaging Het
Fam35a T C 14: 34,268,278 R224G probably benign Het
Gm973 A C 1: 59,582,423 H574P probably benign Het
Gprasp1 G A X: 135,800,539 V494I probably benign Het
Hbb-bh1 T A 7: 103,842,810 K66* probably null Het
Hoxb9 T A 11: 96,274,825 M240K probably damaging Het
Irf2 T C 8: 46,807,753 probably null Het
Lgi4 A G 7: 31,067,263 probably null Het
Mylk3 C T 8: 85,355,176 V328M probably benign Het
Nf2 T C 11: 4,848,873 E38G probably null Het
Olfr1286 A C 2: 111,420,312 L213R probably damaging Het
Olfr606 A T 7: 103,451,771 K145* probably null Het
Pdpk1 A G 17: 24,079,638 F346L probably damaging Het
Prex1 T C 2: 166,577,886 Y1120C probably damaging Het
Rab3gap1 A G 1: 127,937,500 T742A probably benign Het
Scai A T 2: 39,099,417 D401E probably benign Het
Scd1 T C 19: 44,398,094 H298R probably damaging Het
Slc45a1 A G 4: 150,638,719 probably benign Het
Smim10l1 G T 6: 133,105,508 R6L probably damaging Het
Spag5 T G 11: 78,320,034 F921C probably damaging Het
Sun1 T C 5: 139,241,431 S667P probably damaging Het
Tas2r124 A G 6: 132,755,561 I278V probably benign Het
Thbs1 G A 2: 118,113,518 D206N probably benign Het
Trim37 T A 11: 87,167,430 probably benign Het
Vcp T C 4: 42,988,728 T249A possibly damaging Het
Vmn2r103 A G 17: 19,793,969 N341S possibly damaging Het
Zmat3 A G 3: 32,345,583 probably benign Het
Other mutations in Ddr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02021:Ddr1 APN 17 35683480 missense probably damaging 1.00
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
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 On2015-04-16