Incidental Mutation 'R5112:Ddr1'
ID 393977
Institutional Source Beutler Lab
Gene Symbol Ddr1
Ensembl Gene ENSMUSG00000003534
Gene Name discoidin domain receptor family, member 1
Synonyms CD167a, Cak
MMRRC Submission 042700-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R5112 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 35992459-36015513 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35993377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 877 (T877A)
Ref Sequence ENSEMBL: ENSMUSP00000133047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003628] [ENSMUST00000097333] [ENSMUST00000117301] [ENSMUST00000119825] [ENSMUST00000155628] [ENSMUST00000155957] [ENSMUST00000166980]
AlphaFold Q03146
Predicted Effect probably benign
Transcript: ENSMUST00000003628
AA Change: T877A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000003628
Gene: ENSMUSG00000003534
AA Change: T877A

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: ENSMUST00000097333
AA Change: T840A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000094945
Gene: ENSMUSG00000003534
AA Change: T840A

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 benign
Transcript: ENSMUST00000117301
AA Change: T877A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112570
Gene: ENSMUSG00000003534
AA Change: T877A

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 benign
Transcript: ENSMUST00000119825
AA Change: T877A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113062
Gene: ENSMUSG00000003534
AA Change: T877A

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 benign
Transcript: ENSMUST00000166980
AA Change: T877A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133047
Gene: ENSMUSG00000003534
AA Change: T877A

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.6%
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,328,383 (GRCm39) K846R probably damaging Het
Acsbg3 T A 17: 57,184,465 (GRCm39) M80K probably benign Het
Acsm5 A G 7: 119,136,502 (GRCm39) K358E possibly damaging Het
Adam26a A T 8: 44,021,893 (GRCm39) D532E probably benign Het
Adamts19 C T 18: 59,164,876 (GRCm39) R993* probably null Het
Akr1c13 A G 13: 4,244,151 (GRCm39) K68R possibly damaging Het
Amer3 T A 1: 34,626,157 (GRCm39) M132K possibly damaging Het
Ankrd2 A G 19: 42,028,326 (GRCm39) D38G possibly damaging Het
Ano7 G A 1: 93,325,085 (GRCm39) V546M possibly damaging Het
Aox1 G A 1: 58,349,254 (GRCm39) probably null Het
Apc T A 18: 34,449,162 (GRCm39) C1985* probably null Het
Astn1 C T 1: 158,484,763 (GRCm39) S15F possibly damaging Het
Atp13a4 A T 16: 29,228,686 (GRCm39) N950K possibly damaging Het
Bcl6 A G 16: 23,791,496 (GRCm39) V286A probably benign Het
Brox T A 1: 183,073,541 (GRCm39) T79S probably benign Het
C2cd3 A T 7: 100,092,692 (GRCm39) I512F possibly damaging Het
Camta1 A G 4: 151,158,511 (GRCm39) L542S probably damaging Het
Capn13 GCA G 17: 73,658,501 (GRCm39) probably null Het
Card10 C T 15: 78,686,580 (GRCm39) probably null Het
Cd96 A G 16: 45,919,301 (GRCm39) M240T probably benign Het
Cdc123 A G 2: 5,809,748 (GRCm39) L221P possibly damaging Het
Cdh19 A G 1: 110,882,354 (GRCm39) V46A possibly damaging Het
Clcn3 G A 8: 61,407,586 (GRCm39) H24Y probably benign Het
Col11a2 T C 17: 34,283,062 (GRCm39) probably benign Het
Cpsf3 A T 12: 21,341,785 (GRCm39) M50L probably benign Het
Csf3 T A 11: 98,593,749 (GRCm39) L197Q probably damaging Het
Ctsw T A 19: 5,516,285 (GRCm39) D196V probably damaging Het
Dcun1d3 A T 7: 119,457,250 (GRCm39) I154K probably damaging Het
Dnah8 T A 17: 30,950,012 (GRCm39) L1944I probably benign Het
Dpf3 G T 12: 83,417,385 (GRCm39) S29* probably null Het
Ephb1 A G 9: 101,848,378 (GRCm39) I640T probably damaging Het
Fat1 G A 8: 45,477,319 (GRCm39) G2099S probably damaging Het
Fbxo41 G T 6: 85,454,906 (GRCm39) N667K probably damaging Het
Flacc1 T C 1: 58,698,441 (GRCm39) T326A probably benign Het
Gart A T 16: 91,430,933 (GRCm39) D376E probably benign Het
Glyr1 G A 16: 4,836,740 (GRCm39) Q475* probably null Het
Gm28051 G A 12: 102,686,430 (GRCm39) Q77* probably null Het
Gnmt C A 17: 47,037,256 (GRCm39) R176L probably damaging Het
Gpr176 A T 2: 118,110,629 (GRCm39) V210D possibly damaging Het
Gtf2ird1 A T 5: 134,431,038 (GRCm39) D339E probably damaging Het
Hmbox1 A G 14: 65,063,061 (GRCm39) Y372H probably damaging Het
Ier2 G T 8: 85,389,361 (GRCm39) A7E probably damaging Het
Il20ra A G 10: 19,634,691 (GRCm39) T311A possibly damaging Het
Il24 T C 1: 130,811,179 (GRCm39) probably null Het
Insl6 G A 19: 29,298,996 (GRCm39) Q139* probably null Het
Itga2b A T 11: 102,349,017 (GRCm39) I729K probably damaging Het
Itpr2 A T 6: 146,135,489 (GRCm39) M1814K possibly damaging Het
Klhl3 G A 13: 58,166,703 (GRCm39) S429F probably damaging Het
Lipo2 T C 19: 33,725,865 (GRCm39) N129S probably benign Het
Lrba C T 3: 86,132,678 (GRCm39) T28M probably benign Het
Ly86 G T 13: 37,559,013 (GRCm39) G71C probably damaging Het
Maob T C X: 16,582,662 (GRCm39) T400A probably benign Het
Mical2 A G 7: 111,919,818 (GRCm39) S443G probably damaging Het
Mmp17 A G 5: 129,679,229 (GRCm39) H376R possibly damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Myo7b T C 18: 32,116,640 (GRCm39) H989R probably damaging Het
Neil2 A G 14: 63,425,909 (GRCm39) W154R probably damaging Het
Nlrp12 G A 7: 3,289,613 (GRCm39) H300Y possibly damaging Het
Nlrp3 A T 11: 59,439,554 (GRCm39) Y377F probably damaging Het
Notch2 T C 3: 98,008,952 (GRCm39) probably null Het
Nudcd1 A T 15: 44,240,039 (GRCm39) C500* probably null Het
Or5b24 T C 19: 12,912,180 (GRCm39) V26A probably benign Het
Or5d37 A G 2: 87,923,353 (GRCm39) V309A probably damaging Het
Or8g18 A G 9: 39,149,717 (GRCm39) M1T probably null Het
Or8h9 A T 2: 86,789,698 (GRCm39) Y35N probably damaging Het
Pabpc6 T A 17: 9,888,540 (GRCm39) S4C probably damaging Het
Pan2 C T 10: 128,151,464 (GRCm39) R835* probably null Het
Parp9 G A 16: 35,784,683 (GRCm39) V346I probably damaging Het
Pcbp4 C T 9: 106,337,917 (GRCm39) T69M probably damaging Het
Pclo T A 5: 14,727,896 (GRCm39) probably benign Het
Phldb3 A T 7: 24,324,110 (GRCm39) I495F possibly damaging Het
Plce1 G T 19: 38,640,277 (GRCm39) V508F probably benign Het
Pmpca A T 2: 26,285,178 (GRCm39) I468F probably damaging Het
Pmpcb G A 5: 21,961,441 (GRCm39) R399H probably damaging Het
Ptprc A G 1: 138,022,037 (GRCm39) S544P probably damaging Het
Rev3l T A 10: 39,699,326 (GRCm39) D1274E probably benign Het
Ryr3 A T 2: 112,733,010 (GRCm39) V612E probably damaging Het
Scfd2 G T 5: 74,366,982 (GRCm39) H639Q probably benign Het
Sell T A 1: 163,892,887 (GRCm39) H34Q possibly damaging Het
Setd2 A G 9: 110,377,226 (GRCm39) D347G probably benign Het
Sgip1 G A 4: 102,726,966 (GRCm39) D81N probably damaging Het
Slc12a1 A T 2: 125,060,144 (GRCm39) I940F possibly damaging Het
Slc25a34 T A 4: 141,348,769 (GRCm39) I232L probably benign Het
Slc36a3 T A 11: 55,039,399 (GRCm39) K76N probably damaging Het
Slc6a15 T A 10: 103,225,087 (GRCm39) D58E probably benign Het
Slc6a7 T C 18: 61,140,448 (GRCm39) S195G probably null Het
Svep1 G A 4: 58,068,610 (GRCm39) Q3059* probably null Het
Syce1l A C 8: 114,378,274 (GRCm39) H56P probably damaging Het
Tbc1d2 A G 4: 46,606,503 (GRCm39) V814A probably damaging Het
Tbx18 T A 9: 87,597,740 (GRCm39) I265F probably damaging Het
Thbs2 T C 17: 14,890,852 (GRCm39) probably null Het
Ttll1 T C 15: 83,380,597 (GRCm39) H256R probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ttyh2 A T 11: 114,587,583 (GRCm39) T195S probably benign Het
Unc119b A G 5: 115,263,553 (GRCm39) L217P probably damaging Het
Unc5a T C 13: 55,151,231 (GRCm39) probably null Het
Usp6nl A G 2: 6,425,714 (GRCm39) K152E probably benign Het
Vcam1 T C 3: 115,910,941 (GRCm39) R486G probably benign Het
Vmn2r1 A C 3: 63,997,544 (GRCm39) Q400P possibly damaging Het
Vmn2r80 T A 10: 79,030,292 (GRCm39) V706D possibly damaging Het
Vmn2r87 A T 10: 130,314,422 (GRCm39) L388Q probably damaging Het
Vwa3a A T 7: 120,383,208 (GRCm39) Y603F probably damaging Het
Zfp850 A T 7: 27,689,658 (GRCm39) C183* 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
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'- ACACTGCCTCTTGGGAATG -3'
(R):5'- AGAATGCCGGCGAGTTCTTC -3'

Sequencing Primer
(F):5'- CCTCTTGGGAATGGGCAAG -3'
(R):5'- AGTTCTTCAGGGACCAGGG -3'
Posted On 2016-06-15