Incidental Mutation 'R4940:Ddr1'
ID 383043
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 # R4940 (G1)
Quality Score 213
Status Not validated
Chromosome 17
Chromosomal Location 35992459-36015513 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36001022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 241 (D241V)
Ref Sequence ENSEMBL: ENSMUSP00000133659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003628] [ENSMUST00000097333] [ENSMUST00000117301] [ENSMUST00000119825] [ENSMUST00000134995] [ENSMUST00000135078] [ENSMUST00000145900] [ENSMUST00000166980] [ENSMUST00000155628] [ENSMUST00000148065] [ENSMUST00000155957] [ENSMUST00000146472]
AlphaFold Q03146
Predicted Effect probably damaging
Transcript: ENSMUST00000003628
AA Change: D241V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003628
Gene: ENSMUSG00000003534
AA Change: D241V

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: D241V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000094945
Gene: ENSMUSG00000003534
AA Change: D241V

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: D241V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112570
Gene: ENSMUSG00000003534
AA Change: D241V

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: D241V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113062
Gene: ENSMUSG00000003534
AA Change: D241V

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: ENSMUST00000134995
AA Change: D241V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117301
Gene: ENSMUSG00000003534
AA Change: D241V

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 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 damaging
Transcript: ENSMUST00000166980
AA Change: D241V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133047
Gene: ENSMUSG00000003534
AA Change: D241V

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: ENSMUST00000155628
AA Change: D241V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133659
Gene: ENSMUSG00000003534
AA Change: D241V

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 damaging
Transcript: ENSMUST00000148065
AA Change: D111V

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120635
Gene: ENSMUSG00000003534
AA Change: D111V

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 benign
Transcript: ENSMUST00000155957
AA Change: M207L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000117427
Gene: ENSMUSG00000003534
AA Change: M207L

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: ENSMUST00000146472
SMART Domains Protein: ENSMUSP00000119397
Gene: ENSMUSG00000003534

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
FA58C 31 186 2.75e-34 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,828,782 (GRCm39) T240A probably benign Het
Abca15 T C 7: 119,931,917 (GRCm39) Y57H probably benign Het
Adgrf4 A G 17: 42,977,420 (GRCm39) I641T possibly damaging Het
Ankrd11 A G 8: 123,616,560 (GRCm39) Y2410H probably damaging Het
Apbb2 C A 5: 66,609,604 (GRCm39) L14F probably null Het
Arhgdia T C 11: 120,470,061 (GRCm39) D204G probably damaging Het
Armh4 A T 14: 50,010,939 (GRCm39) M256K probably benign Het
Catsperd A T 17: 56,969,736 (GRCm39) Y610F possibly damaging Het
Cblb T A 16: 51,853,466 (GRCm39) D27E probably damaging Het
Ccdc180 A T 4: 45,917,453 (GRCm39) I893F probably damaging Het
Ccdc180 A G 4: 45,917,508 (GRCm39) H911R probably damaging Het
Cdh23 T A 10: 60,143,714 (GRCm39) I2966F probably damaging Het
Cfap299 A G 5: 98,885,495 (GRCm39) H134R possibly damaging Het
Chat G A 14: 32,141,062 (GRCm39) P445L probably damaging Het
Chdh G T 14: 29,754,809 (GRCm39) R273L possibly damaging Het
Clic3 T C 2: 25,347,929 (GRCm39) V72A probably benign Het
Cyp2d12 T A 15: 82,442,251 (GRCm39) D244E probably benign Het
Dock7 T A 4: 98,908,314 (GRCm39) K605N probably damaging Het
Dsg2 T A 18: 20,712,487 (GRCm39) F164I probably damaging Het
Dstyk T A 1: 132,380,844 (GRCm39) N446K probably damaging Het
Epb42 A T 2: 120,864,932 (GRCm39) L53Q probably damaging Het
Extl2 G C 3: 115,820,841 (GRCm39) K229N probably benign Het
Frmd4b T A 6: 97,275,051 (GRCm39) S617C probably damaging Het
Fscb C T 12: 64,520,588 (GRCm39) V293I probably benign Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Gm4978 A C 9: 69,358,154 (GRCm39) probably benign Het
Gm6729 A G 10: 86,376,252 (GRCm39) noncoding transcript Het
Gnat2 A C 3: 108,007,932 (GRCm39) N293T probably benign Het
Herpud1 T C 8: 95,117,470 (GRCm39) I142T probably benign Het
Irak2 G A 6: 113,670,691 (GRCm39) V536I probably benign Het
Kcnu1 A T 8: 26,387,890 (GRCm39) probably null Het
Kdm4a A G 4: 118,018,951 (GRCm39) S422P probably benign Het
Lair1 T A 7: 4,031,948 (GRCm39) D53V probably benign Het
Lhx1 G T 11: 84,410,735 (GRCm39) Y196* probably null Het
Lrrc37a G A 11: 103,388,438 (GRCm39) T2329I unknown Het
Mag T C 7: 30,608,625 (GRCm39) D163G probably damaging Het
Magi3 A G 3: 103,958,708 (GRCm39) V459A probably damaging Het
Med13 A G 11: 86,178,944 (GRCm39) Y1451H probably damaging Het
Megf8 T A 7: 25,060,131 (GRCm39) C2341S probably damaging Het
Mppe1 A G 18: 67,361,095 (GRCm39) C221R probably damaging Het
Mtus1 T A 8: 41,494,515 (GRCm39) H39L possibly damaging Het
Nkpd1 C T 7: 19,257,498 (GRCm39) Q276* probably null Het
Nkx3-1 G A 14: 69,428,367 (GRCm39) G72S probably benign Het
Nutm2 T C 13: 50,628,909 (GRCm39) C658R possibly damaging Het
Olfm1 T C 2: 28,112,602 (GRCm39) V239A possibly damaging Het
Pcnx1 C T 12: 81,964,567 (GRCm39) H245Y possibly damaging Het
Pgm3 A G 9: 86,441,529 (GRCm39) L356S probably damaging Het
Pik3r4 C G 9: 105,546,193 (GRCm39) H207D probably benign Het
Pkd1l1 T C 11: 8,794,585 (GRCm39) T1859A probably benign Het
Pon3 A T 6: 5,221,625 (GRCm39) V335E possibly damaging Het
Ppp4r3b A G 11: 29,161,740 (GRCm39) T705A probably benign Het
Prmt7 T C 8: 106,963,910 (GRCm39) V268A probably benign Het
Psd C T 19: 46,310,856 (GRCm39) G398R probably damaging Het
Pygl A G 12: 70,253,155 (GRCm39) V188A probably damaging Het
Rnf13 T A 3: 57,703,627 (GRCm39) N110K probably damaging Het
Rnf170 C T 8: 26,615,939 (GRCm39) Q77* probably null Het
Rrp8 A T 7: 105,383,284 (GRCm39) Y327* probably null Het
Ruvbl2 T C 7: 45,074,150 (GRCm39) D228G probably damaging Het
Scgn T A 13: 24,173,807 (GRCm39) T35S probably benign Het
Scyl3 C T 1: 163,762,316 (GRCm39) P74S probably damaging Het
Sec61b T G 4: 47,483,074 (GRCm39) S123A probably benign Het
Sertad2 T C 11: 20,597,899 (GRCm39) S32P possibly damaging Het
Slc23a3 T C 1: 75,110,447 (GRCm39) probably null Het
Sult2a2 T G 7: 13,472,223 (GRCm39) V140G probably benign Het
Tbc1d4 A T 14: 101,744,667 (GRCm39) S320T probably benign Het
Trabd2b T C 4: 114,266,141 (GRCm39) Y52H probably damaging Het
Traf2 T C 2: 25,420,300 (GRCm39) E183G probably null Het
Trip10 G T 17: 57,570,017 (GRCm39) V561F possibly damaging Het
Ttc7 G T 17: 87,614,386 (GRCm39) V184F probably benign Het
Ubc A G 5: 125,463,293 (GRCm39) V678A probably benign Het
Unk A G 11: 115,944,491 (GRCm39) E414G possibly damaging Het
Usp42 T C 5: 143,705,517 (GRCm39) N365D probably damaging Het
Zbtb26 A T 2: 37,326,781 (GRCm39) I85K probably damaging Het
Zfhx2 A T 14: 55,303,891 (GRCm39) H1364Q possibly damaging 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
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'- TGTTACAGTGGACCTGAGGG -3'
(R):5'- GAGAGCATTGCATGGCACTG -3'

Sequencing Primer
(F):5'- CACTGAGTCAAGGCCAGG -3'
(R):5'- CATTGCATGGCACTGGGGTG -3'
Posted On 2016-04-27