Incidental Mutation 'R7226:Ddr1'
ID 562192
Institutional Source Beutler Lab
Gene Symbol Ddr1
Ensembl Gene ENSMUSG00000003534
Gene Name discoidin domain receptor family, member 1
Synonyms CD167a, Cak
MMRRC Submission 045298-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R7226 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 35992459-36015513 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 36002039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 218 (D218N)
Ref Sequence ENSEMBL: ENSMUSP00000003628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003628] [ENSMUST00000097333] [ENSMUST00000117301] [ENSMUST00000119825] [ENSMUST00000134995] [ENSMUST00000135078] [ENSMUST00000145900] [ENSMUST00000146472] [ENSMUST00000148065] [ENSMUST00000155628] [ENSMUST00000155957] [ENSMUST00000166980]
AlphaFold Q03146
Predicted Effect possibly damaging
Transcript: ENSMUST00000003628
AA Change: D218N

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000003628
Gene: ENSMUSG00000003534
AA Change: D218N

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: D218N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000094945
Gene: ENSMUSG00000003534
AA Change: D218N

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: D218N

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112570
Gene: ENSMUSG00000003534
AA Change: D218N

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: D218N

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113062
Gene: ENSMUSG00000003534
AA Change: D218N

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: ENSMUST00000134995
AA Change: D218N

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117301
Gene: ENSMUSG00000003534
AA Change: D218N

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: ENSMUST00000135078
SMART Domains Protein: ENSMUSP00000122191
Gene: ENSMUSG00000003534

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
PDB:4AG4|A 30 89 5e-22 PDB
Blast:FA58C 31 89 6e-25 BLAST
SCOP:d1d7pm_ 32 78 5e-11 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000145900
AA Change: D218N

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122361
Gene: ENSMUSG00000003534
AA Change: D218N

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
FA58C 31 186 2.75e-34 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000146472
AA Change: D218N

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000119397
Gene: ENSMUSG00000003534
AA Change: D218N

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
FA58C 31 186 2.75e-34 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000148065
AA Change: D88N

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000120635
Gene: ENSMUSG00000003534
AA Change: D88N

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 probably damaging
Transcript: ENSMUST00000155628
AA Change: D218N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133659
Gene: ENSMUSG00000003534
AA Change: D218N

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: D218N

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133047
Gene: ENSMUSG00000003534
AA Change: D218N

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025B11Rik C T 15: 77,443,189 (GRCm39) V17I unknown Het
Acad8 T A 9: 26,889,726 (GRCm39) K323* probably null Het
Adam18 A T 8: 25,137,824 (GRCm39) C339S probably damaging Het
Anxa7 A G 14: 20,510,263 (GRCm39) F396L probably damaging Het
Ap2m1 T A 16: 20,358,201 (GRCm39) V73D probably damaging Het
Asic2 A T 11: 80,862,340 (GRCm39) I270N probably damaging Het
Atrn T G 2: 130,828,664 (GRCm39) C1070G probably damaging Het
Bag6 A G 17: 35,361,921 (GRCm39) N517S unknown Het
Bhmt1b A G 18: 87,775,590 (GRCm39) D371G possibly damaging Het
Bltp3b A T 10: 89,644,503 (GRCm39) Q1181L probably benign Het
Cavin1 A C 11: 100,861,284 (GRCm39) D3E probably benign Het
Cc2d2b T C 19: 40,779,751 (GRCm39) L571P unknown Het
Ccbe1 A T 18: 66,216,199 (GRCm39) C175S probably damaging Het
Cd19 A G 7: 126,013,995 (GRCm39) L5P unknown Het
Cd46 A G 1: 194,724,314 (GRCm39) S362P possibly damaging Het
Celf5 A G 10: 81,303,863 (GRCm39) S198P probably damaging Het
Cep170b A G 12: 112,704,359 (GRCm39) R706G possibly damaging Het
Chd3 G T 11: 69,260,037 (GRCm39) R61S unknown Het
Cpsf6 A C 10: 117,197,727 (GRCm39) W253G unknown Het
Cyp27a1 G A 1: 74,776,507 (GRCm39) G481D probably damaging Het
Dhx34 A T 7: 15,932,801 (GRCm39) V1046D probably damaging Het
Dhx9 A T 1: 153,341,423 (GRCm39) D608E probably benign Het
Dnajc6 C A 4: 101,496,569 (GRCm39) A912E probably damaging Het
Ehmt1 T C 2: 24,694,794 (GRCm39) D1051G probably damaging Het
Fam217b C A 2: 178,062,996 (GRCm39) A320E probably benign Het
Farsa T A 8: 85,590,689 (GRCm39) I169N probably benign Het
Fbn2 A G 18: 58,170,142 (GRCm39) C2210R probably damaging Het
Fbxo3 T A 2: 103,880,642 (GRCm39) S251T probably benign Het
Fer1l6 C T 15: 58,462,384 (GRCm39) T813I probably benign Het
Ftl1-ps1 A T 13: 74,555,114 (GRCm39) E131V probably damaging Het
Gins3 T A 8: 96,364,499 (GRCm39) I83N probably damaging Het
Gja3 T C 14: 57,273,350 (GRCm39) T341A probably benign Het
Gja5 A G 3: 96,958,174 (GRCm39) Y77C probably damaging Het
Gm7247 A G 14: 51,602,808 (GRCm39) K48R probably damaging Het
Gsx2 C A 5: 75,236,621 (GRCm39) S67* probably null Het
H2-Q5 T A 17: 35,616,089 (GRCm39) L217Q Het
Impg2 T A 16: 56,087,467 (GRCm39) C1095* probably null Het
Itga7 G T 10: 128,776,801 (GRCm39) W222L probably damaging Het
Kdm2b T A 5: 123,059,512 (GRCm39) D530V possibly damaging Het
Klhdc8a A T 1: 132,230,344 (GRCm39) D153V probably damaging Het
Lin28a C T 4: 133,733,619 (GRCm39) G143S probably damaging Het
Memo1 A G 17: 74,509,338 (GRCm39) L227S probably damaging Het
Mettl27 T A 5: 134,964,657 (GRCm39) V138E probably damaging Het
Mov10 G T 3: 104,708,328 (GRCm39) L474I probably damaging Het
Nat10 T C 2: 103,557,098 (GRCm39) N852S probably benign Het
Nfkbie T C 17: 45,870,153 (GRCm39) V166A possibly damaging Het
Nktr T C 9: 121,575,599 (GRCm39) M369T probably damaging Het
Nlrp9a A T 7: 26,258,149 (GRCm39) N589I probably benign Het
Nrn1 G A 13: 36,914,577 (GRCm39) R8C probably benign Het
Nrsn1 A G 13: 25,437,451 (GRCm39) I159T probably damaging Het
Or1e29 A G 11: 73,667,503 (GRCm39) S217P possibly damaging Het
Or2h15 C T 17: 38,441,324 (GRCm39) G253D probably benign Het
Or5p61 A T 7: 107,758,164 (GRCm39) D305E probably benign Het
Or6c88 G A 10: 129,406,584 (GRCm39) G20D probably benign Het
Osbp T A 19: 11,956,031 (GRCm39) D385E probably benign Het
Pan3 T A 5: 147,463,802 (GRCm39) N547K probably damaging Het
Pip4p2 T A 4: 14,892,464 (GRCm39) D109E probably damaging Het
Pum1 C A 4: 130,499,292 (GRCm39) T1036K probably damaging Het
Rad54l2 C A 9: 106,590,671 (GRCm39) R485L probably damaging Het
Rps26 A T 10: 128,461,087 (GRCm39) F101I unknown Het
Sdsl T C 5: 120,598,702 (GRCm39) N138S probably benign Het
Slc28a2b C A 2: 122,353,013 (GRCm39) R453S probably benign Het
Slc39a6 A T 18: 24,717,084 (GRCm39) H649Q probably damaging Het
Snip1 T A 4: 124,965,273 (GRCm39) F226Y probably benign Het
Srrd T C 5: 112,485,322 (GRCm39) T334A unknown Het
St14 C T 9: 31,011,448 (GRCm39) D448N possibly damaging Het
Tmem270 T A 5: 134,930,538 (GRCm39) Q241L probably benign Het
Tubb4b T C 2: 25,114,180 (GRCm39) D41G probably benign Het
Usf3 T C 16: 44,040,368 (GRCm39) M1616T possibly damaging Het
Vmn2r95 A T 17: 18,672,245 (GRCm39) I733F possibly damaging Het
Zfp976 A T 7: 42,262,684 (GRCm39) C385* probably null 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
PIT4449001:Ddr1 UTSW 17 35,998,141 (GRCm39) missense possibly damaging 0.54
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
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'- CAGGCTACCCATTGCTCTAC -3'
(R):5'- GGCACTAAACTGCATAGCCTTC -3'

Sequencing Primer
(F):5'- GTGCACATACACGTGTAGACATGTAC -3'
(R):5'- GCATAGCCTTCTCCACACTAGTG -3'
Posted On 2019-06-26