Incidental Mutation 'R6925:Ddr2'
ID 541052
Institutional Source Beutler Lab
Gene Symbol Ddr2
Ensembl Gene ENSMUSG00000026674
Gene Name discoidin domain receptor family, member 2
Synonyms Ntrkr3
MMRRC Submission 045043-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6925 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 169799876-169938331 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 169825701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 300 (K300E)
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: K300E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000027985
Gene: ENSMUSG00000026674
AA Change: K300E

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: K300E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000129624
Gene: ENSMUSG00000026674
AA Change: K300E

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: K300E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000141443
Gene: ENSMUSG00000026674
AA Change: K300E

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 0.0582 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (91/91)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 A T 9: 53,503,329 (GRCm39) V170E probably benign Het
Atp2b2 T A 6: 113,737,681 (GRCm39) I902F probably damaging Het
Cacna1d A G 14: 29,773,594 (GRCm39) V1697A probably benign Het
Ccdc14 T A 16: 34,511,119 (GRCm39) F31Y probably benign Het
Ccdc17 T A 4: 116,455,407 (GRCm39) V250E probably damaging Het
Cct7 A G 6: 85,436,164 (GRCm39) N25S probably damaging Het
Cdcp3 A G 7: 130,824,436 (GRCm39) Q177R possibly damaging Het
Cep19 G C 16: 31,922,760 (GRCm39) G9R probably damaging Het
Ces5a A T 8: 94,249,685 (GRCm39) probably null Het
Chd1l T G 3: 97,490,142 (GRCm39) E471A probably damaging Het
Chd6 A G 2: 160,855,047 (GRCm39) I787T probably damaging Het
Cntnap5c A C 17: 58,702,261 (GRCm39) T1194P probably benign Het
Col6a3 T A 1: 90,743,724 (GRCm39) M208L probably benign Het
Coro7 A T 16: 4,446,538 (GRCm39) probably null Het
Csrnp2 T C 15: 100,379,839 (GRCm39) K484R probably benign Het
Cyp2c39 T A 19: 39,501,639 (GRCm39) V64E probably damaging Het
Ddx56 T C 11: 6,213,980 (GRCm39) E393G probably damaging Het
Diaph1 A C 18: 37,986,732 (GRCm39) Y1084* probably null Het
Disp1 A T 1: 182,868,042 (GRCm39) F1459L probably benign Het
Dnajc8 G A 4: 132,271,424 (GRCm39) A80T probably damaging Het
Elfn1 T A 5: 139,957,440 (GRCm39) M148K probably benign Het
Emcn T A 3: 137,124,763 (GRCm39) I154N probably damaging Het
Enah T A 1: 181,733,464 (GRCm39) probably null Het
Enah C G 1: 181,733,463 (GRCm39) probably null Het
Ep300 C A 15: 81,534,182 (GRCm39) Q2080K probably benign Het
Epha2 T A 4: 141,036,068 (GRCm39) M168K probably benign Het
Ercc6 T A 14: 32,284,565 (GRCm39) I776N probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fat4 G T 3: 39,050,353 (GRCm39) probably null Het
G3bp1 A G 11: 55,388,786 (GRCm39) R333G possibly damaging Het
Gm3604 A G 13: 62,517,204 (GRCm39) F385L probably benign Het
Gm5800 T C 14: 51,951,157 (GRCm39) I147M possibly damaging Het
Hipk1 A G 3: 103,685,561 (GRCm39) F18S unknown Het
Ighv3-8 A T 12: 114,285,950 (GRCm39) C131S probably benign Het
Il23r T G 6: 67,400,477 (GRCm39) T618P probably damaging Het
Il31ra G A 13: 112,664,063 (GRCm39) T538I possibly damaging Het
Kcns2 A G 15: 34,840,059 (GRCm39) D474G unknown Het
Klc4 T C 17: 46,947,155 (GRCm39) T407A possibly damaging Het
Klra5 C T 6: 129,888,420 (GRCm39) S2N probably benign Het
Krt10 T C 11: 99,279,677 (GRCm39) Y161C probably damaging Het
Kxd1 A T 8: 70,975,928 (GRCm39) M1K probably null Het
Lgals1 A C 15: 78,812,240 (GRCm39) D27A possibly damaging Het
Lgr5 T C 10: 115,302,251 (GRCm39) S308G probably benign Het
Lrp1 G A 10: 127,392,857 (GRCm39) S2736L probably benign Het
Lrpap1 G T 5: 35,259,880 (GRCm39) H73N probably benign Het
Mcpt1 C A 14: 56,256,522 (GRCm39) T86K probably damaging Het
Megf6 A T 4: 154,339,044 (GRCm39) D527V probably damaging Het
Mical3 A T 6: 120,936,351 (GRCm39) S1392T probably benign Het
Mmp2 A T 8: 93,566,010 (GRCm39) D437V probably damaging Het
Mob4 T A 1: 55,191,881 (GRCm39) Y166* probably null Het
Mrap2 G A 9: 87,064,527 (GRCm39) M89I possibly damaging Het
Mug1 G A 6: 121,858,746 (GRCm39) A1155T probably damaging Het
Myh2 G T 11: 67,084,044 (GRCm39) A1556S probably benign Het
Nfatc3 A G 8: 106,845,954 (GRCm39) D1028G probably benign Het
Ngef T G 1: 87,430,985 (GRCm39) probably null Het
Nlrp1a A T 11: 70,983,339 (GRCm39) L1209Q probably null Het
Npr2 C T 4: 43,647,553 (GRCm39) R819C probably damaging Het
Nsd2 A T 5: 34,036,454 (GRCm39) D646V probably damaging Het
Nsun7 A G 5: 66,434,415 (GRCm39) H252R probably damaging Het
Or2a25 T A 6: 42,888,791 (GRCm39) C111* probably null Het
Or2k2 A T 4: 58,785,647 (GRCm39) I25N possibly damaging Het
Or51a10 C T 7: 103,698,947 (GRCm39) V205I probably benign Het
Or8g32 A T 9: 39,305,156 (GRCm39) Q20L probably benign Het
Or8g32 G T 9: 39,305,157 (GRCm39) Q20H probably benign Het
Pcdhga2 A T 18: 37,803,638 (GRCm39) D494V probably damaging Het
Pcsk2 A G 2: 143,655,667 (GRCm39) E617G probably damaging Het
Pdc T C 1: 150,208,931 (GRCm39) I138T probably damaging Het
Phc2 T A 4: 128,641,927 (GRCm39) S750T probably damaging Het
Pkd2l1 T A 19: 44,179,947 (GRCm39) N88Y possibly damaging Het
Plcl1 C T 1: 55,445,757 (GRCm39) R71* probably null Het
Prag1 C A 8: 36,571,048 (GRCm39) L544M probably damaging Het
Prkg2 A G 5: 99,114,369 (GRCm39) probably null Het
Psd2 G A 18: 36,112,764 (GRCm39) S153N probably damaging Het
Rab11fip1 A T 8: 27,643,000 (GRCm39) S600T probably damaging Het
Rbms1 T G 2: 60,592,648 (GRCm39) T222P probably benign Het
Slfn8 A T 11: 82,904,243 (GRCm39) Y382* probably null Het
Socs4 T A 14: 47,527,195 (GRCm39) C43* probably null Het
Sorl1 T A 9: 41,944,922 (GRCm39) T868S probably damaging Het
St6gal1 A G 16: 23,174,963 (GRCm39) Y267C probably damaging Het
Syne1 A G 10: 5,076,682 (GRCm39) V6879A probably benign Het
Syne2 C A 12: 75,900,906 (GRCm39) H22N possibly damaging Het
Tmeff2 T A 1: 50,967,180 (GRCm39) L25Q probably damaging Het
Tmprss11g G T 5: 86,635,285 (GRCm39) D396E probably benign Het
Tmprss11g T A 5: 86,635,295 (GRCm39) H393L probably benign Het
Vmn2r23 A G 6: 123,681,512 (GRCm39) E140G probably damaging Het
Wapl T C 14: 34,399,320 (GRCm39) S130P probably benign Het
Zeb2 T A 2: 44,884,541 (GRCm39) K982M probably damaging Het
Zfhx3 C G 8: 109,683,453 (GRCm39) H3631D unknown Het
Zfp719 T C 7: 43,240,130 (GRCm39) S573P probably damaging Het
Zfp979 A T 4: 147,697,999 (GRCm39) C237S 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
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
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'- AACATCATCCACGTGTCGGC -3'
(R):5'- GTGACCAGAGCACACAGTTG -3'

Sequencing Primer
(F):5'- TCCACGTGTCGGCAAAATG -3'
(R):5'- AAACTGGGTTTTAGAAGGTCTGACC -3'
Posted On 2018-11-28