Incidental Mutation 'R0730:Ddr2'
ID 67435
Institutional Source Beutler Lab
Gene Symbol Ddr2
Ensembl Gene ENSMUSG00000026674
Gene Name discoidin domain receptor family, member 2
Synonyms Ntrkr3
MMRRC Submission 038911-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0730 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 169799876-169938331 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 169823135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 383 (A383V)
Ref Sequence ENSEMBL: ENSMUSP00000141443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027985] [ENSMUST00000170800] [ENSMUST00000194690]
AlphaFold Q62371
Predicted Effect probably benign
Transcript: ENSMUST00000027985
AA Change: A383V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027985
Gene: ENSMUSG00000026674
AA Change: A383V

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: A383V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129624
Gene: ENSMUSG00000026674
AA Change: A383V

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: ENSMUST00000194690
AA Change: A383V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141443
Gene: ENSMUSG00000026674
AA Change: A383V

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 0.0679 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.1%
Validation Efficiency 99% (99/100)
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 A T 8: 25,486,774 (GRCm39) I168N probably benign Het
Adamts20 G A 15: 94,245,571 (GRCm39) A577V probably benign Het
Agtr1a A T 13: 30,565,279 (GRCm39) S115C probably damaging Het
Ankrd11 T C 8: 123,618,692 (GRCm39) Y1720C probably damaging Het
Ano6 A T 15: 95,818,252 (GRCm39) T353S probably damaging Het
App A G 16: 84,876,840 (GRCm39) F184L probably damaging Het
Arhgef38 T A 3: 132,843,232 (GRCm39) Y446F probably benign Het
Aspg T A 12: 112,078,693 (GRCm39) Y57* probably null Het
Atp1a4 G A 1: 172,067,774 (GRCm39) probably benign Het
Bdp1 G A 13: 100,195,459 (GRCm39) probably benign Het
Bicd2 T A 13: 49,531,717 (GRCm39) S246T possibly damaging Het
Brd10 T A 19: 29,695,381 (GRCm39) I1438F probably benign Het
Bsn T A 9: 107,984,011 (GRCm39) M3348L unknown Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cacna2d3 T C 14: 28,704,322 (GRCm39) I820V probably benign Het
Cdc40 A G 10: 40,720,952 (GRCm39) probably benign Het
Cdh23 T C 10: 60,159,493 (GRCm39) E2094G probably damaging Het
Celsr2 T A 3: 108,305,922 (GRCm39) N2061Y probably damaging Het
Cfap206 G A 4: 34,711,391 (GRCm39) A502V probably benign Het
Cfap54 T C 10: 92,870,599 (GRCm39) T29A probably benign Het
Cfap57 T C 4: 118,470,117 (GRCm39) probably null Het
Chd5 A G 4: 152,432,441 (GRCm39) E43G possibly damaging Het
Clk1 G A 1: 58,453,558 (GRCm39) H343Y probably benign Het
Cntn4 A C 6: 106,527,447 (GRCm39) K443T probably damaging Het
Csn2 G A 5: 87,842,811 (GRCm39) A72V possibly damaging Het
Ctdp1 T A 18: 80,493,457 (GRCm39) H346L probably benign Het
Ctif A T 18: 75,698,083 (GRCm39) N192K probably damaging Het
Derl3 C T 10: 75,731,076 (GRCm39) probably benign Het
Dgkh T C 14: 78,821,919 (GRCm39) I865V probably damaging Het
Dip2b C T 15: 100,069,532 (GRCm39) A619V probably damaging Het
Elapor1 T A 3: 108,376,851 (GRCm39) H509L probably benign Het
Eml1 A G 12: 108,496,585 (GRCm39) T614A possibly damaging Het
Eogt G C 6: 97,092,970 (GRCm39) Y402* probably null Het
Erbb4 A G 1: 68,298,449 (GRCm39) V647A probably damaging Het
Esm1 G T 13: 113,350,036 (GRCm39) probably null Het
Fbxo31 A G 8: 122,282,103 (GRCm39) probably benign Het
Fbxw5 T A 2: 25,394,630 (GRCm39) D201E possibly damaging Het
Fgfr1 G A 8: 26,045,760 (GRCm39) D123N probably benign Het
G530012D18Rik A C 1: 85,504,757 (GRCm39) probably benign Het
Gnat1 G A 9: 107,556,662 (GRCm39) T29I probably damaging Het
Gtf2ird2 A T 5: 134,221,597 (GRCm39) R67* probably null Het
Il22b A T 10: 118,130,142 (GRCm39) D87E probably benign Het
Kcnq3 T C 15: 65,867,457 (GRCm39) T729A probably benign Het
Klrc2 A T 6: 129,635,659 (GRCm39) S156R probably damaging Het
Krt76 A T 15: 101,795,784 (GRCm39) L462Q probably damaging Het
Lama3 C A 18: 12,589,907 (GRCm39) probably benign Het
Lin28a A T 4: 133,735,319 (GRCm39) S56T probably damaging Het
Macf1 A G 4: 123,276,323 (GRCm39) probably benign Het
Macrod2 C T 2: 142,059,594 (GRCm39) probably benign Het
Mansc1 C T 6: 134,594,424 (GRCm39) probably benign Het
Map1b G T 13: 99,566,274 (GRCm39) S2149* probably null Het
Mgst1 A T 6: 138,124,667 (GRCm39) T34S probably benign Het
Mlf2 C T 6: 124,911,354 (GRCm39) T123M probably damaging Het
Mospd2 C T X: 163,731,253 (GRCm39) probably benign Het
Mrpl15 A T 1: 4,847,834 (GRCm39) V155E probably damaging Het
Mstn A T 1: 53,100,953 (GRCm39) Y10F possibly damaging Het
Myo1g C T 11: 6,470,794 (GRCm39) V21M probably damaging Het
Myom2 T C 8: 15,149,326 (GRCm39) I599T probably benign Het
Ndc80 A T 17: 71,803,241 (GRCm39) N633K probably benign Het
Nhs C A X: 160,620,296 (GRCm39) V1487L possibly damaging Het
Npc1 T C 18: 12,352,382 (GRCm39) T106A probably benign Het
Nup133 C T 8: 124,675,747 (GRCm39) V57M probably benign Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Oprm1 T C 10: 6,782,652 (GRCm39) probably benign Het
Or5j1 T C 2: 86,879,492 (GRCm39) I29M probably benign Het
Or6c219 T A 10: 129,780,980 (GRCm39) H317L probably benign Het
Or8j3 A G 2: 86,029,069 (GRCm39) V9A probably benign Het
Ostf1 C T 19: 18,581,571 (GRCm39) V14I unknown Het
Pcdhb14 C A 18: 37,581,921 (GRCm39) D342E probably damaging Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pdpr T C 8: 111,852,387 (GRCm39) probably null Het
Plce1 G A 19: 38,705,135 (GRCm39) V847M probably damaging Het
Pon3 A G 6: 5,230,444 (GRCm39) M288T probably benign Het
Psd2 A T 18: 36,111,627 (GRCm39) D84V possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ralgapa1 T C 12: 55,712,448 (GRCm39) K1808E probably damaging Het
Ramp3 T C 11: 6,626,476 (GRCm39) probably benign Het
Rasgrf1 T A 9: 89,833,062 (GRCm39) probably benign Het
Rictor A G 15: 6,803,467 (GRCm39) probably benign Het
Rptor A T 11: 119,775,780 (GRCm39) I984F probably benign Het
Slc1a6 C T 10: 78,631,842 (GRCm39) P223S probably benign Het
Taar8b A C 10: 23,967,924 (GRCm39) V90G probably damaging Het
Tbc1d21 A G 9: 58,267,160 (GRCm39) V327A probably benign Het
Tex21 T C 12: 76,250,940 (GRCm39) T499A probably benign Het
Tg A T 15: 66,550,638 (GRCm39) D256V probably damaging Het
Tmf1 A G 6: 97,153,453 (GRCm39) S207P probably benign Het
Tpr A G 1: 150,269,158 (GRCm39) probably benign Het
Ufd1 A G 16: 18,633,637 (GRCm39) T21A probably damaging Het
Unc13a T C 8: 72,108,929 (GRCm39) D115G possibly damaging Het
Usb1 T A 8: 96,070,669 (GRCm39) F198L probably damaging Het
Utrn A T 10: 12,573,902 (GRCm39) probably benign Het
Vars1 A G 17: 35,233,276 (GRCm39) N954S probably damaging Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Wdr33 C T 18: 31,968,429 (GRCm39) probably benign Het
Zfp236 A G 18: 82,658,369 (GRCm39) probably benign Het
Zfp445 A T 9: 122,690,823 (GRCm39) V124E probably damaging Het
Zfp616 A T 11: 73,975,648 (GRCm39) H639L probably damaging Het
Zfyve16 C A 13: 92,657,985 (GRCm39) S642I probably damaging Het
Zswim5 C T 4: 116,842,943 (GRCm39) T896I possibly damaging 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
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
R5325:Ddr2 UTSW 1 169,829,406 (GRCm39) missense probably benign 0.00
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'- GGACTGTCCTTCCTTTACCACACAAG -3'
(R):5'- AGCTCTCTGAAACACCATGTGCTAATG -3'

Sequencing Primer
(F):5'- GTATCCATTCAGAGTCACATGGAATC -3'
(R):5'- TTGTTTTTGCACTAGGAAAAAGTATC -3'
Posted On 2013-09-03