Incidental Mutation 'R5325:Ddr2'
ID 421870
Institutional Source Beutler Lab
Gene Symbol Ddr2
Ensembl Gene ENSMUSG00000026674
Gene Name discoidin domain receptor family, member 2
Synonyms Ntrkr3
MMRRC Submission 042908-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5325 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 169799876-169938331 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 169829406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 283 (T283S)
Ref Sequence ENSEMBL: ENSMUSP00000141443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027985] [ENSMUST00000170800] [ENSMUST00000192312] [ENSMUST00000194690]
AlphaFold Q62371
Predicted Effect probably benign
Transcript: ENSMUST00000027985
AA Change: T283S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000027985
Gene: ENSMUSG00000026674
AA Change: T283S

DomainStartEndE-ValueType
low complexity region 9 18 N/A INTRINSIC
FA58C 29 185 2.39e-43 SMART
transmembrane domain 400 422 N/A INTRINSIC
low complexity region 455 469 N/A INTRINSIC
TyrKc 563 848 1.08e-133 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170800
AA Change: T283S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000129624
Gene: ENSMUSG00000026674
AA Change: T283S

DomainStartEndE-ValueType
low complexity region 9 18 N/A INTRINSIC
FA58C 29 185 2.39e-43 SMART
transmembrane domain 400 422 N/A INTRINSIC
low complexity region 455 469 N/A INTRINSIC
TyrKc 563 848 1.08e-133 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192312
SMART Domains Protein: ENSMUSP00000142191
Gene: ENSMUSG00000026674

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
FA58C 29 129 7e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194690
AA Change: T283S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000141443
Gene: ENSMUSG00000026674
AA Change: T283S

DomainStartEndE-ValueType
low complexity region 9 18 N/A INTRINSIC
FA58C 29 185 2.39e-43 SMART
transmembrane domain 400 422 N/A INTRINSIC
low complexity region 455 469 N/A INTRINSIC
TyrKc 563 848 1.08e-133 SMART
Meta Mutation Damage Score 0.0658 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Receptor tyrosine kinases (RTKs) play a key role in the communication of cells with their microenvironment. These molecules are involved in the regulation of cell growth, differentiation, and metabolism. In several cases the biochemical mechanism by which RTKs transduce signals across the membrane has been shown to be ligand induced receptor oligomerization and subsequent intracellular phosphorylation. This autophosphorylation leads to phosphorylation of cytosolic targets as well as association with other molecules, which are involved in pleiotropic effects of signal transduction. RTKs have a tripartite structure with extracellular, transmembrane, and cytoplasmic regions. This gene encodes a member of a novel subclass of RTKs and contains a distinct extracellular region encompassing a factor VIII-like domain. Alternative splicing in the 5' UTR results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show dwarfism, reduced chondrocyte proliferation, shortened long bones and snout, and skull anomalies. Homozygotes for another null allele show similar skeletal defects, small hearts, short cardiomyocytes, lower cardiac collagen density, and altered cardiac function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace3 T A 11: 105,896,079 (GRCm39) M675K probably benign Het
Ccdc186 A T 19: 56,801,613 (GRCm39) I168N probably damaging Het
Ccnb1 C G 13: 100,918,283 (GRCm39) Q121H possibly damaging Het
Cep83 A G 10: 94,573,768 (GRCm39) E219G probably damaging Het
Ctsj T C 13: 61,151,839 (GRCm39) T73A possibly damaging Het
Ehbp1 T A 11: 22,045,370 (GRCm39) D768V possibly damaging Het
Evpl T C 11: 116,112,191 (GRCm39) D1833G probably damaging Het
Exoc1 A G 5: 76,685,549 (GRCm39) N87S probably benign Het
Fam98b A C 2: 117,101,132 (GRCm39) I315L possibly damaging Het
Fancg A G 4: 43,006,564 (GRCm39) V330A probably damaging Het
Fbxo30 G A 10: 11,166,846 (GRCm39) V523I possibly damaging Het
Fbxw27 A G 9: 109,599,161 (GRCm39) C419R probably damaging Het
Flt3 C A 5: 147,312,459 (GRCm39) V161L probably benign Het
Fndc7 G A 3: 108,790,765 (GRCm39) T87I probably damaging Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gm6457 A T 18: 14,703,498 (GRCm39) noncoding transcript Het
Gpr63 T C 4: 25,007,294 (GRCm39) V6A probably benign Het
Grhl3 T A 4: 135,286,415 (GRCm39) K89* probably null Het
H2-M10.2 C A 17: 36,596,471 (GRCm39) V125L probably benign Het
Hrh4 C T 18: 13,155,054 (GRCm39) Q198* probably null Het
Lrch4 A G 5: 137,636,168 (GRCm39) E373G probably damaging Het
Mroh9 C G 1: 162,888,329 (GRCm39) G249R probably damaging Het
Noa1 A C 5: 77,452,042 (GRCm39) D547E probably damaging Het
Nr2e1 G A 10: 42,448,780 (GRCm39) R153W probably damaging Het
Nudt9 A C 5: 104,198,487 (GRCm39) M1L possibly damaging Het
Odf2 T A 2: 29,802,583 (GRCm39) D282E probably benign Het
Olfr908 A T 9: 38,427,454 (GRCm39) N42I probably damaging Het
Or13a25 C A 7: 140,247,705 (GRCm39) H168Q probably benign Het
Or6ae1 T A 7: 139,742,026 (GRCm39) Y279F probably damaging Het
Osbpl5 C G 7: 143,245,665 (GRCm39) A816P probably damaging Het
Pan2 T C 10: 128,153,503 (GRCm39) I924T possibly damaging Het
Ppat A G 5: 77,076,269 (GRCm39) probably benign Het
Rad50 T G 11: 53,583,690 (GRCm39) I364L probably benign Het
Rnf7l A G 10: 63,257,458 (GRCm39) S21P probably benign Het
Robo2 A G 16: 73,770,673 (GRCm39) I484T possibly damaging Het
Ryr2 A T 13: 11,705,249 (GRCm39) M2839K probably damaging Het
Sin3b A G 8: 73,477,154 (GRCm39) D807G probably damaging Het
Sirpb1a G A 3: 15,476,503 (GRCm39) T98I possibly damaging Het
Smim17 G A 7: 6,432,321 (GRCm39) V88M probably damaging Het
Spib T C 7: 44,177,505 (GRCm39) T229A probably damaging Het
St14 A T 9: 31,008,274 (GRCm39) probably null Het
Syne4 A T 7: 30,018,401 (GRCm39) Y381F probably damaging Het
Sytl1 T C 4: 132,988,382 (GRCm39) probably benign Het
Tnpo3 A C 6: 29,602,012 (GRCm39) probably benign Het
Trim12a T A 7: 103,953,413 (GRCm39) I233F probably damaging Het
Tspan1 T A 4: 116,021,536 (GRCm39) N82Y probably damaging Het
Vmn1r60 T A 7: 5,547,201 (GRCm39) M300L probably benign Het
Wdr17 G A 8: 55,112,716 (GRCm39) A788V possibly damaging Het
Wwtr1 A T 3: 57,482,658 (GRCm39) V63E probably benign Het
Ylpm1 A G 12: 85,060,735 (GRCm39) probably benign Het
Zfp956 T C 6: 47,928,012 (GRCm39) probably benign Het
Other mutations in Ddr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Ddr2 APN 1 169,811,996 (GRCm39) missense possibly damaging 0.95
IGL00432:Ddr2 APN 1 169,825,527 (GRCm39) missense probably benign 0.11
IGL00490:Ddr2 APN 1 169,832,763 (GRCm39) missense probably damaging 1.00
IGL01343:Ddr2 APN 1 169,812,150 (GRCm39) missense probably benign
IGL01898:Ddr2 APN 1 169,825,725 (GRCm39) missense possibly damaging 0.85
IGL01899:Ddr2 APN 1 169,811,991 (GRCm39) missense probably damaging 1.00
IGL01906:Ddr2 APN 1 169,809,668 (GRCm39) missense probably damaging 1.00
IGL02115:Ddr2 APN 1 169,822,278 (GRCm39) missense probably benign
IGL02330:Ddr2 APN 1 169,816,093 (GRCm39) missense probably damaging 0.99
IGL02740:Ddr2 APN 1 169,812,514 (GRCm39) missense probably damaging 1.00
IGL02828:Ddr2 APN 1 169,816,082 (GRCm39) missense probably benign 0.34
built UTSW 1 169,825,533 (GRCm39) missense probably damaging 1.00
commie UTSW 1 169,829,552 (GRCm39) missense possibly damaging 0.82
debulked UTSW 1 169,809,667 (GRCm39) missense probably damaging 1.00
Demokratische UTSW 1 169,809,672 (GRCm39) missense probably damaging 1.00
deutsche UTSW 1 169,812,530 (GRCm39) missense probably damaging 1.00
fibro UTSW 1 169,832,381 (GRCm39) splice site probably benign
fingers UTSW 1 169,816,109 (GRCm39) missense probably benign 0.16
Julio UTSW 1 169,825,498 (GRCm39) critical splice donor site probably null
phalanges UTSW 1 169,832,809 (GRCm39) nonsense probably null
revolta UTSW 1 169,816,089 (GRCm39) nonsense probably null
ripper UTSW 1 169,805,483 (GRCm39) nonsense probably null
Underrepresented UTSW 1 169,825,701 (GRCm39) missense probably benign 0.01
R0574:Ddr2 UTSW 1 169,809,532 (GRCm39) splice site probably benign
R0730:Ddr2 UTSW 1 169,823,135 (GRCm39) missense probably benign
R0733:Ddr2 UTSW 1 169,832,381 (GRCm39) splice site probably benign
R0883:Ddr2 UTSW 1 169,822,198 (GRCm39) missense probably benign 0.01
R1340:Ddr2 UTSW 1 169,825,653 (GRCm39) missense probably benign
R1815:Ddr2 UTSW 1 169,823,170 (GRCm39) nonsense probably null
R1921:Ddr2 UTSW 1 169,831,814 (GRCm39) missense probably damaging 1.00
R1924:Ddr2 UTSW 1 169,809,641 (GRCm39) missense probably benign 0.01
R2016:Ddr2 UTSW 1 169,812,537 (GRCm39) missense probably damaging 1.00
R2079:Ddr2 UTSW 1 169,832,345 (GRCm39) nonsense probably null
R2178:Ddr2 UTSW 1 169,822,251 (GRCm39) missense probably benign 0.18
R2903:Ddr2 UTSW 1 169,825,730 (GRCm39) missense probably damaging 1.00
R3051:Ddr2 UTSW 1 169,816,024 (GRCm39) missense probably benign 0.01
R3971:Ddr2 UTSW 1 169,815,986 (GRCm39) missense probably damaging 1.00
R4290:Ddr2 UTSW 1 169,818,178 (GRCm39) missense probably benign 0.00
R4494:Ddr2 UTSW 1 169,815,983 (GRCm39) missense probably damaging 1.00
R4606:Ddr2 UTSW 1 169,829,421 (GRCm39) missense probably benign 0.05
R4721:Ddr2 UTSW 1 169,832,809 (GRCm39) nonsense probably null
R4734:Ddr2 UTSW 1 169,825,657 (GRCm39) missense probably benign 0.41
R4855:Ddr2 UTSW 1 169,816,066 (GRCm39) missense possibly damaging 0.94
R4871:Ddr2 UTSW 1 169,832,340 (GRCm39) missense probably benign 0.19
R4923:Ddr2 UTSW 1 169,825,498 (GRCm39) critical splice donor site probably null
R5207:Ddr2 UTSW 1 169,812,530 (GRCm39) missense probably damaging 1.00
R5439:Ddr2 UTSW 1 169,832,298 (GRCm39) missense possibly damaging 0.92
R5723:Ddr2 UTSW 1 169,816,089 (GRCm39) nonsense probably null
R5833:Ddr2 UTSW 1 169,832,265 (GRCm39) missense probably benign 0.01
R5924:Ddr2 UTSW 1 169,822,197 (GRCm39) missense probably benign 0.03
R6020:Ddr2 UTSW 1 169,832,671 (GRCm39) missense probably benign 0.15
R6270:Ddr2 UTSW 1 169,816,109 (GRCm39) missense probably benign 0.16
R6326:Ddr2 UTSW 1 169,814,709 (GRCm39) missense probably damaging 1.00
R6328:Ddr2 UTSW 1 169,814,634 (GRCm39) missense possibly damaging 0.52
R6794:Ddr2 UTSW 1 169,809,667 (GRCm39) missense probably damaging 1.00
R6925:Ddr2 UTSW 1 169,825,701 (GRCm39) missense probably benign 0.01
R7011:Ddr2 UTSW 1 169,809,672 (GRCm39) missense probably damaging 1.00
R7185:Ddr2 UTSW 1 169,814,623 (GRCm39) missense probably damaging 1.00
R7248:Ddr2 UTSW 1 169,822,198 (GRCm39) missense probably benign 0.01
R7278:Ddr2 UTSW 1 169,812,530 (GRCm39) missense probably damaging 1.00
R7343:Ddr2 UTSW 1 169,809,647 (GRCm39) missense probably damaging 1.00
R7366:Ddr2 UTSW 1 169,825,533 (GRCm39) missense probably damaging 1.00
R7520:Ddr2 UTSW 1 169,812,008 (GRCm39) missense probably damaging 1.00
R7571:Ddr2 UTSW 1 169,829,420 (GRCm39) missense probably benign 0.05
R7611:Ddr2 UTSW 1 169,825,727 (GRCm39) missense possibly damaging 0.73
R8425:Ddr2 UTSW 1 169,863,585 (GRCm39) start gained probably benign
R8728:Ddr2 UTSW 1 169,829,552 (GRCm39) missense possibly damaging 0.82
R8819:Ddr2 UTSW 1 169,805,483 (GRCm39) nonsense probably null
R8820:Ddr2 UTSW 1 169,805,483 (GRCm39) nonsense probably null
R9328:Ddr2 UTSW 1 169,829,504 (GRCm39) missense probably benign 0.00
X0004:Ddr2 UTSW 1 169,814,667 (GRCm39) missense probably benign 0.10
X0027:Ddr2 UTSW 1 169,809,599 (GRCm39) missense probably damaging 1.00
Z1176:Ddr2 UTSW 1 169,825,653 (GRCm39) missense probably benign
Z1176:Ddr2 UTSW 1 169,825,652 (GRCm39) missense probably benign
Z1176:Ddr2 UTSW 1 169,812,524 (GRCm39) missense probably damaging 1.00
Z1177:Ddr2 UTSW 1 169,818,191 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- GGGTCTAACCTGTTGTGCAG -3'
(R):5'- GTGTGAGTAACTCCAGGCTTC -3'

Sequencing Primer
(F):5'- TGTTGTGCAGAGTTAACAAATGAAG -3'
(R):5'- ATGGCCTGAGCAGCATGAC -3'
Posted On 2016-08-04