Incidental Mutation 'R7343:Ddr2'
ID 569977
Institutional Source Beutler Lab
Gene Symbol Ddr2
Ensembl Gene ENSMUSG00000026674
Gene Name discoidin domain receptor family, member 2
Synonyms Ntrkr3
MMRRC Submission 045433-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7343 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 169799876-169938331 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 169809647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 777 (W777R)
Ref Sequence ENSEMBL: ENSMUSP00000027985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027985] [ENSMUST00000170800] [ENSMUST00000194690]
AlphaFold Q62371
Predicted Effect probably damaging
Transcript: ENSMUST00000027985
AA Change: W777R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027985
Gene: ENSMUSG00000026674
AA Change: W777R

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 damaging
Transcript: ENSMUST00000170800
AA Change: W777R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129624
Gene: ENSMUSG00000026674
AA Change: W777R

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 damaging
Transcript: ENSMUST00000194690
AA Change: W777R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141443
Gene: ENSMUSG00000026674
AA Change: W777R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A C 6: 83,139,353 (GRCm39) N426T probably benign Het
6430548M08Rik A G 8: 120,872,327 (GRCm39) D85G probably benign Het
Abcb11 C T 2: 69,130,211 (GRCm39) D282N probably damaging Het
Abcg3 A T 5: 105,116,100 (GRCm39) F245I probably benign Het
Abhd17a G T 10: 80,419,991 (GRCm39) F231L possibly damaging Het
Adgra1 A T 7: 139,456,058 (GRCm39) D562V probably damaging Het
Akap7 C A 10: 25,165,567 (GRCm39) probably benign Het
Akap9 A G 5: 4,096,364 (GRCm39) D2413G probably damaging Het
Akr1c18 A T 13: 4,187,236 (GRCm39) C193S probably damaging Het
Aloxe3 A T 11: 69,023,569 (GRCm39) M231L probably benign Het
Apoh A G 11: 108,286,674 (GRCm39) T33A probably benign Het
Atp13a5 T C 16: 29,140,567 (GRCm39) N330D probably benign Het
C1ql3 T G 2: 13,015,589 (GRCm39) M24L probably benign Het
Cacna1d T C 14: 29,845,014 (GRCm39) N712S probably benign Het
Cbs T C 17: 31,838,113 (GRCm39) M379V possibly damaging Het
Ccdc167 T C 17: 29,924,517 (GRCm39) D28G probably damaging Het
Ccp110 A T 7: 118,323,798 (GRCm39) Q679L probably benign Het
Ccz1 A T 5: 143,935,000 (GRCm39) L310H probably damaging Het
Cerkl A T 2: 79,259,104 (GRCm39) D44E probably damaging Het
Cfap221 T A 1: 119,922,828 (GRCm39) E38V possibly damaging Het
Chia1 T A 3: 106,039,331 (GRCm39) *474R probably null Het
Clint1 C T 11: 45,774,590 (GRCm39) T32M probably damaging Het
Clk3 A T 9: 57,668,239 (GRCm39) F227L probably damaging Het
Col5a3 C T 9: 20,705,242 (GRCm39) probably null Het
Cul2 T C 18: 3,426,873 (GRCm39) I501T probably benign Het
Dag1 G A 9: 108,086,292 (GRCm39) A283V possibly damaging Het
Deaf1 A T 7: 140,902,871 (GRCm39) V151D probably damaging Het
Dido1 A T 2: 180,316,914 (GRCm39) V631E possibly damaging Het
Dpp4 G A 2: 62,189,245 (GRCm39) Q429* probably null Het
Dscaml1 A G 9: 45,664,214 (GRCm39) R2030G probably benign Het
Dsel C T 1: 111,789,303 (GRCm39) G411S probably damaging Het
E2f8 T A 7: 48,517,713 (GRCm39) M697L probably damaging Het
Eef2kmt C A 16: 5,065,299 (GRCm39) G303W probably damaging Het
Eif2ak1 A G 5: 143,814,489 (GRCm39) Y182C probably damaging Het
Epha6 G T 16: 59,780,793 (GRCm39) A636E probably damaging Het
Fancd2 G A 6: 113,513,900 (GRCm39) V95I probably benign Het
Fbln5 A T 12: 101,727,075 (GRCm39) C292S probably damaging Het
Fgfr4 A G 13: 55,306,968 (GRCm39) Y219C probably damaging Het
Frem1 T G 4: 82,912,359 (GRCm39) K670T probably damaging Het
Fsip2 A T 2: 82,809,711 (GRCm39) H2010L probably benign Het
Gas2l2 A T 11: 83,312,816 (GRCm39) L832* probably null Het
Gbe1 A G 16: 70,157,903 (GRCm39) T101A probably benign Het
Gm5114 T A 7: 39,058,180 (GRCm39) I480F probably damaging Het
Gm7145 A T 1: 117,913,842 (GRCm39) R241S probably damaging Het
Gnal G A 18: 67,268,596 (GRCm39) V161I probably benign Het
Gtpbp1 T C 15: 79,575,243 (GRCm39) C46R probably benign Het
Gucy2c A T 6: 136,679,746 (GRCm39) L971Q probably damaging Het
Hsp90b1 T C 10: 86,528,047 (GRCm39) E740G probably damaging Het
Lingo2 G A 4: 35,709,450 (GRCm39) L177F possibly damaging Het
Mfsd6l A G 11: 68,447,874 (GRCm39) T242A possibly damaging Het
Mmadhc C T 2: 50,181,457 (GRCm39) R71K probably damaging Het
Mrm3 G T 11: 76,140,726 (GRCm39) V245L probably damaging Het
Nav3 T A 10: 109,739,619 (GRCm39) I117F probably damaging Het
Noc3l A T 19: 38,783,468 (GRCm39) V636D probably damaging Het
Nwd1 A T 8: 73,438,410 (GRCm39) Q1486L probably damaging Het
Or10aa1 A T 1: 173,870,419 (GRCm39) K301M probably damaging Het
Or2y10 A G 11: 49,455,329 (GRCm39) T194A possibly damaging Het
Or3a10 G T 11: 73,935,726 (GRCm39) R125S possibly damaging Het
Or4c11c T G 2: 88,662,190 (GRCm39) I243R probably damaging Het
Or6c5b C G 10: 129,245,852 (GRCm39) L206V possibly damaging Het
Pax9 T A 12: 56,742,647 (GRCm39) M1K probably null Het
Pcdha1 T C 18: 37,063,702 (GRCm39) V122A probably damaging Het
Pgpep1l A T 7: 67,887,469 (GRCm39) S44T probably damaging Het
Pla2g3 C T 11: 3,443,022 (GRCm39) L452F possibly damaging Het
Plbd2 G A 5: 120,631,214 (GRCm39) R188W probably damaging Het
Ppp1r42 G A 1: 10,039,082 (GRCm39) P346L probably benign Het
Prdm8 T A 5: 98,332,375 (GRCm39) V92D probably damaging Het
Ripor2 C A 13: 24,885,427 (GRCm39) S554* probably null Het
Rps19 T C 7: 24,584,571 (GRCm39) V4A probably damaging Het
Rrm2b T A 15: 37,944,817 (GRCm39) I159F probably benign Het
Rusc1 C A 3: 88,999,057 (GRCm39) G242W probably damaging Het
Sarm1 A G 11: 78,388,083 (GRCm39) S68P possibly damaging Het
Sctr G A 1: 119,949,955 (GRCm39) R48Q probably benign Het
Slc22a4 A G 11: 53,877,364 (GRCm39) F509S possibly damaging Het
Slc39a12 G A 2: 14,456,811 (GRCm39) A600T probably damaging Het
Spta1 A T 1: 174,050,915 (GRCm39) H1798L probably damaging Het
Sulf2 T G 2: 165,919,536 (GRCm39) D804A possibly damaging Het
Suz12 A T 11: 79,910,529 (GRCm39) E316D probably benign Het
Tbrg4 A G 11: 6,570,065 (GRCm39) S270P probably benign Het
Tecta T C 9: 42,248,628 (GRCm39) T1925A probably damaging Het
Thrap3 A T 4: 126,072,223 (GRCm39) F390I probably damaging Het
Tpr C A 1: 150,269,245 (GRCm39) A70E unknown Het
Trpv4 G C 5: 114,774,520 (GRCm39) P188R probably benign Het
Txlna A C 4: 129,525,953 (GRCm39) L298R probably damaging Het
Ubr4 T C 4: 139,140,749 (GRCm39) S1223P probably benign Het
Ucp1 A T 8: 84,021,881 (GRCm39) T238S probably damaging Het
Ush2a A G 1: 188,147,943 (GRCm39) S957G probably benign Het
Usp34 A G 11: 23,438,868 (GRCm39) N3496D Het
Vmn2r50 T C 7: 9,784,277 (GRCm39) probably null Het
Wdr54 A G 6: 83,131,921 (GRCm39) V130A probably benign Het
Zfp692 A T 11: 58,202,331 (GRCm39) E362V probably damaging Het
Zfp811 A G 17: 33,016,487 (GRCm39) Y518H probably damaging Het
Zfp994 A C 17: 22,419,049 (GRCm39) C633W 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
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
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'- ATCCTTGAGCTGGGGTCTTC -3'
(R):5'- GGTTTCAGATGATGGTCATGGAAC -3'

Sequencing Primer
(F):5'- GGGTCTTCCTACATAGTCAGGAC -3'
(R):5'- AACATCTTCTTTGTGGGCTTGGC -3'
Posted On 2019-09-13