Incidental Mutation 'PIT4449001:Ddr1'
ID 555754
Institutional Source Beutler Lab
Gene Symbol Ddr1
Ensembl Gene ENSMUSG00000003534
Gene Name discoidin domain receptor family, member 1
Synonyms CD167a, Cak
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # PIT4449001 (G1)
Quality Score 161.009
Status Not validated
Chromosome 17
Chromosomal Location 35992459-36015513 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35998141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 468 (I468T)
Ref Sequence ENSEMBL: ENSMUSP00000003628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003628] [ENSMUST00000097333] [ENSMUST00000117301] [ENSMUST00000119825] [ENSMUST00000134995] [ENSMUST00000145900] [ENSMUST00000146472] [ENSMUST00000148065] [ENSMUST00000155628] [ENSMUST00000155957] [ENSMUST00000166980]
AlphaFold Q03146
Predicted Effect possibly damaging
Transcript: ENSMUST00000003628
AA Change: I468T

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000003628
Gene: ENSMUSG00000003534
AA Change: I468T

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 possibly damaging
Transcript: ENSMUST00000097333
AA Change: I468T

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000094945
Gene: ENSMUSG00000003534
AA Change: I468T

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 possibly damaging
Transcript: ENSMUST00000117301
AA Change: I468T

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112570
Gene: ENSMUSG00000003534
AA Change: I468T

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 possibly damaging
Transcript: ENSMUST00000119825
AA Change: I468T

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113062
Gene: ENSMUSG00000003534
AA Change: I468T

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: ENSMUST00000134995
SMART Domains Protein: ENSMUSP00000117301
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 239 264 2e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000145900
SMART Domains Protein: ENSMUSP00000122361
Gene: ENSMUSG00000003534

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
FA58C 31 186 2.75e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146472
SMART Domains Protein: ENSMUSP00000119397
Gene: ENSMUSG00000003534

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
FA58C 31 186 2.75e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148065
SMART Domains Protein: ENSMUSP00000120635
Gene: ENSMUSG00000003534

DomainStartEndE-ValueType
Blast:FA58C 1 56 2e-33 BLAST
SCOP:d1d7pm_ 1 58 2e-11 SMART
PDB:4AG4|A 1 143 3e-73 PDB
Blast:FA58C 109 143 1e-13 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000155628
AA Change: I468T

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000133659
Gene: ENSMUSG00000003534
AA Change: I468T

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 possibly damaging
Transcript: ENSMUST00000166980
AA Change: I468T

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000133047
Gene: ENSMUSG00000003534
AA Change: I468T

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
  • 1x: 93.3%
  • 3x: 90.8%
  • 10x: 84.7%
  • 20x: 71.6%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asf1b A G 8: 84,694,611 (GRCm39) N125S probably benign Het
BC048671 T A 6: 90,282,145 (GRCm39) L101I probably damaging Het
Camta1 A G 4: 151,216,043 (GRCm39) L959P probably benign Het
Cfap91 T C 16: 38,148,720 (GRCm39) E236G probably damaging Het
Cfh C A 1: 140,040,303 (GRCm39) V598F probably damaging Het
Cyp2j7 G T 4: 96,103,575 (GRCm39) T320K probably damaging Het
Dhx15 A G 5: 52,318,300 (GRCm39) V510A probably damaging Het
Dpp4 T A 2: 62,186,988 (GRCm39) K507N probably benign Het
Evpl G A 11: 116,124,225 (GRCm39) T198M possibly damaging Het
Gabbr1 G A 17: 37,367,242 (GRCm39) V373I probably damaging Het
Gak A T 5: 108,728,791 (GRCm39) S1049T probably benign Het
Gipr C T 7: 18,894,543 (GRCm39) R253H probably benign Het
Gm3685 T A 14: 7,043,960 (GRCm38) M73L probably benign Het
Gm5168 C T X: 25,994,840 (GRCm39) R129Q probably null Het
Kcnh1 T A 1: 192,100,992 (GRCm39) V555D probably damaging Het
Kif26b T C 1: 178,745,651 (GRCm39) S1916P probably damaging Het
Lingo4 T C 3: 94,309,239 (GRCm39) V59A probably benign Het
Mroh8 T A 2: 157,067,454 (GRCm39) Q635L probably damaging Het
Msh6 T A 17: 88,293,616 (GRCm39) D790E probably damaging Het
Nrxn1 A T 17: 90,905,007 (GRCm39) W809R probably damaging Het
Or5ac19 C A 16: 59,089,493 (GRCm39) C179F probably damaging Het
Polr3d T C 14: 70,676,903 (GRCm39) H397R probably benign Het
Pwp2 G A 10: 78,014,304 (GRCm39) T432I probably benign Het
Rad21 G C 15: 51,836,639 (GRCm39) F177L probably benign Het
Rnf182 G A 13: 43,822,153 (GRCm39) V235I probably benign Het
Scn11a C T 9: 119,599,014 (GRCm39) C1172Y probably damaging Het
Sh2b3 A G 5: 121,966,742 (GRCm39) L124P possibly damaging Het
Six2 T C 17: 85,992,906 (GRCm39) N199S probably benign Het
Slc5a3 A G 16: 91,874,702 (GRCm39) D253G probably benign Het
Synm A G 7: 67,385,025 (GRCm39) M879T probably benign Het
Tasp1 A G 2: 139,752,455 (GRCm39) I328T possibly damaging Het
Tbrg4 T C 11: 6,569,689 (GRCm39) Q309R probably damaging Het
Tmtc2 A G 10: 105,139,465 (GRCm39) L687P probably damaging Het
Trgc3 A T 13: 19,447,532 (GRCm39) R162* probably null Het
Tufm T C 7: 126,086,621 (GRCm39) M1T probably null Het
Vmn2r116 A C 17: 23,607,921 (GRCm39) L496F probably benign Het
Vmn2r75 C T 7: 85,814,791 (GRCm39) C234Y probably damaging Het
Wars2 G T 3: 99,112,595 (GRCm39) V162L possibly damaging Het
Zc3h11a A T 1: 133,552,349 (GRCm39) V586D probably benign Het
Zdhhc5 A T 2: 84,520,571 (GRCm39) N535K probably damaging Het
Zfp52 T C 17: 21,777,478 (GRCm39) Y38H probably damaging Het
Zfp729b T C 13: 67,739,542 (GRCm39) M908V probably benign Het
Zfp772 T C 7: 7,207,350 (GRCm39) I114V probably benign Het
Other mutations in Ddr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02021:Ddr1 APN 17 35,994,372 (GRCm39) missense probably damaging 1.00
IGL02126:Ddr1 APN 17 35,999,481 (GRCm39) missense probably damaging 0.99
IGL02167:Ddr1 APN 17 36,000,963 (GRCm39) missense possibly damaging 0.55
IGL02250:Ddr1 APN 17 35,994,372 (GRCm39) missense probably damaging 1.00
IGL02251:Ddr1 APN 17 35,994,372 (GRCm39) missense probably damaging 1.00
IGL02367:Ddr1 APN 17 35,994,372 (GRCm39) missense probably damaging 1.00
Checkpoint UTSW 17 35,994,489 (GRCm39) missense probably damaging 1.00
Mauer UTSW 17 36,000,561 (GRCm39) nonsense probably null
R0538:Ddr1 UTSW 17 35,995,899 (GRCm39) missense probably damaging 1.00
R0674:Ddr1 UTSW 17 36,000,561 (GRCm39) nonsense probably null
R4829:Ddr1 UTSW 17 35,996,005 (GRCm39) missense probably damaging 1.00
R4940:Ddr1 UTSW 17 36,001,022 (GRCm39) missense probably damaging 1.00
R5085:Ddr1 UTSW 17 35,993,667 (GRCm39) critical splice acceptor site probably null
R5112:Ddr1 UTSW 17 35,993,377 (GRCm39) missense probably benign
R5124:Ddr1 UTSW 17 35,994,489 (GRCm39) missense probably damaging 1.00
R5652:Ddr1 UTSW 17 35,997,400 (GRCm39) missense probably benign
R5653:Ddr1 UTSW 17 35,997,400 (GRCm39) missense probably benign
R5654:Ddr1 UTSW 17 35,997,400 (GRCm39) missense probably benign
R6427:Ddr1 UTSW 17 35,998,114 (GRCm39) missense probably benign
R7226:Ddr1 UTSW 17 36,002,039 (GRCm39) missense possibly damaging 0.94
R7405:Ddr1 UTSW 17 36,000,992 (GRCm39) missense probably damaging 1.00
R7534:Ddr1 UTSW 17 35,993,514 (GRCm39) critical splice donor site probably null
R7568:Ddr1 UTSW 17 35,995,174 (GRCm39) missense probably damaging 1.00
R8010:Ddr1 UTSW 17 36,002,384 (GRCm39) missense possibly damaging 0.93
R8736:Ddr1 UTSW 17 35,995,104 (GRCm39) missense probably damaging 0.96
R8889:Ddr1 UTSW 17 35,993,556 (GRCm39) missense probably benign 0.21
R8892:Ddr1 UTSW 17 35,993,556 (GRCm39) missense probably benign 0.21
R9224:Ddr1 UTSW 17 36,000,609 (GRCm39) missense probably damaging 0.96
R9457:Ddr1 UTSW 17 35,993,650 (GRCm39) missense possibly damaging 0.67
R9700:Ddr1 UTSW 17 35,993,288 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATTGGAGCTGGTATAGACAGTATG -3'
(R):5'- ATGCCCTGGACTTCCACATG -3'

Sequencing Primer
(F):5'- TATAGACAGTATGGGAGGAGGGCTAC -3'
(R):5'- GGACTTCCACATGTCCATTGTGG -3'
Posted On 2019-06-07