Incidental Mutation 'R4721:Ddr2'
ID 354433
Institutional Source Beutler Lab
Gene Symbol Ddr2
Ensembl Gene ENSMUSG00000026674
Gene Name discoidin domain receptor family, member 2
Synonyms Ntrkr3
MMRRC Submission 041986-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4721 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 169799876-169938331 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 169832809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 84 (K84*)
Ref Sequence ENSEMBL: ENSMUSP00000141443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027985] [ENSMUST00000170800] [ENSMUST00000192312] [ENSMUST00000194690]
AlphaFold Q62371
Predicted Effect probably null
Transcript: ENSMUST00000027985
AA Change: K84*
SMART Domains Protein: ENSMUSP00000027985
Gene: ENSMUSG00000026674
AA Change: K84*

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 null
Transcript: ENSMUST00000170800
AA Change: K84*
SMART Domains Protein: ENSMUSP00000129624
Gene: ENSMUSG00000026674
AA Change: K84*

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 null
Transcript: ENSMUST00000192312
AA Change: K84*
SMART Domains Protein: ENSMUSP00000142191
Gene: ENSMUSG00000026674
AA Change: K84*

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
FA58C 29 129 7e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000194690
AA Change: K84*
SMART Domains Protein: ENSMUSP00000141443
Gene: ENSMUSG00000026674
AA Change: K84*

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 0.9754 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (90/92)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,385,107 (GRCm39) D286G probably benign Het
Abca15 G A 7: 119,949,998 (GRCm39) E491K probably benign Het
Acsl5 A G 19: 55,268,962 (GRCm39) T208A probably benign Het
Adamts10 T A 17: 33,764,511 (GRCm39) probably null Het
Ahcyl1 T C 3: 107,577,233 (GRCm39) Q313R possibly damaging Het
Ccdc71 C T 9: 108,340,622 (GRCm39) S145L possibly damaging Het
Cep250 A G 2: 155,812,119 (GRCm39) T472A probably damaging Het
Copa T C 1: 171,931,841 (GRCm39) probably benign Het
Crybg1 C A 10: 43,873,883 (GRCm39) R1075L probably damaging Het
Ddx59 C T 1: 136,344,844 (GRCm39) P172S probably benign Het
Dhx34 T A 7: 15,931,307 (GRCm39) Q1118L possibly damaging Het
Dkkl1 T A 7: 44,857,232 (GRCm39) I112F probably damaging Het
Dnah8 T A 17: 30,944,140 (GRCm39) C1786S probably damaging Het
Eml6 T A 11: 29,788,525 (GRCm39) D520V possibly damaging Het
Ergic1 T A 17: 26,857,750 (GRCm39) V192E probably damaging Het
Fat3 T C 9: 15,941,262 (GRCm39) E1343G probably damaging Het
Fxr1 T C 3: 34,118,381 (GRCm39) S535P possibly damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm15446 C T 5: 110,090,866 (GRCm39) H373Y probably damaging Het
Gpr157 A T 4: 150,183,420 (GRCm39) N197Y probably benign Het
Grid2 G A 6: 64,643,185 (GRCm39) M982I probably benign Het
Hey2 G T 10: 30,710,304 (GRCm39) R150S possibly damaging Het
Hmcn1 T C 1: 150,648,322 (GRCm39) probably null Het
Ighv3-3 G A 12: 114,160,156 (GRCm39) R85* probably null Het
Ighv5-4 A T 12: 113,561,060 (GRCm39) probably benign Het
Igsf21 A G 4: 139,834,621 (GRCm39) S84P probably benign Het
Kif20b A G 19: 34,915,773 (GRCm39) T517A probably benign Het
Krt87 T C 15: 101,385,863 (GRCm39) E244G probably damaging Het
Lrp1 T C 10: 127,390,928 (GRCm39) T2990A possibly damaging Het
Lrp1b T A 2: 40,605,381 (GRCm39) probably null Het
Lrrc42 A T 4: 107,091,050 (GRCm39) S382T probably benign Het
Magi2 C T 5: 20,739,467 (GRCm39) R737W probably damaging Het
Mcc A G 18: 44,652,623 (GRCm39) L267P probably damaging Het
Mzf1 T A 7: 12,777,223 (GRCm39) Q727L possibly damaging Het
Mzf1 C T 7: 12,777,448 (GRCm39) R652Q possibly damaging Het
Nkain3 C T 4: 20,485,015 (GRCm39) A21T probably damaging Het
Nlrp4e T A 7: 23,020,521 (GRCm39) V336E possibly damaging Het
Nptn C T 9: 58,548,059 (GRCm39) R155C probably damaging Het
Nr2c2 T C 6: 92,116,828 (GRCm39) I10T possibly damaging Het
Or12e13 T A 2: 87,663,515 (GRCm39) I44N probably damaging Het
Or1e26 C T 11: 73,480,273 (GRCm39) C97Y probably damaging Het
Or1j13 T C 2: 36,369,836 (GRCm39) Y102C probably benign Het
Pdzk1 G T 3: 96,776,518 (GRCm39) E493* probably null Het
Plekhh1 GTCAAA G 12: 79,122,194 (GRCm39) probably null Het
Polr3b T C 10: 84,491,867 (GRCm39) V342A possibly damaging Het
Prg3 T C 2: 84,821,750 (GRCm39) V125A possibly damaging Het
Raph1 G A 1: 60,542,160 (GRCm39) probably benign Het
Rassf2 A G 2: 131,846,358 (GRCm39) V133A probably benign Het
Rbm22 G A 18: 60,697,463 (GRCm39) R56H probably damaging Het
Rbpjl A C 2: 164,246,447 (GRCm39) S31R probably benign Het
Reln A G 5: 22,124,220 (GRCm39) V2762A probably damaging Het
Rxrg T A 1: 167,452,621 (GRCm39) I141N probably damaging Het
Scn7a C A 2: 66,514,529 (GRCm39) G1082C probably damaging Het
Selenon C A 4: 134,270,387 (GRCm39) E322* probably null Het
Sipa1 C T 19: 5,710,413 (GRCm39) R199Q probably damaging Het
Slc26a7 A T 4: 14,510,261 (GRCm39) probably null Het
Slc37a4 T C 9: 44,312,787 (GRCm39) S314P possibly damaging Het
Smarce1 T C 11: 99,111,543 (GRCm39) I59V probably benign Het
Stk19 T C 17: 35,042,120 (GRCm39) probably null Het
Susd2 C T 10: 75,473,964 (GRCm39) D544N probably benign Het
Tcf7l2 G T 19: 55,919,886 (GRCm39) R465L possibly damaging Het
Tfap2d T A 1: 19,174,984 (GRCm39) S146T possibly damaging Het
Tmem156 A G 5: 65,248,870 (GRCm39) F10S probably benign Het
Tmem63c G T 12: 87,103,954 (GRCm39) A68S possibly damaging Het
Tnfrsf21 T C 17: 43,396,395 (GRCm39) C560R probably damaging Het
Trav10n C T 14: 53,359,590 (GRCm39) T7I probably benign Het
Ttc38 C T 15: 85,722,947 (GRCm39) R132W probably benign Het
Tvp23a T C 16: 10,245,275 (GRCm39) K108R probably benign Het
Vmn1r233 T C 17: 21,214,879 (GRCm39) M24V probably benign Het
Vmn1r88 T A 7: 12,912,451 (GRCm39) L269* probably null Het
Vmn2r101 T A 17: 19,832,287 (GRCm39) M761K probably damaging Het
Vps13b C T 15: 35,910,864 (GRCm39) Q3543* probably null Het
Wdr37 T C 13: 8,904,065 (GRCm39) E101G possibly damaging Het
Zc3hc1 A G 6: 30,374,899 (GRCm39) V214A probably benign Het
Zcchc9 A T 13: 91,948,728 (GRCm39) probably null Het
Zdbf2 A T 1: 63,347,951 (GRCm39) Q2110L possibly damaging Het
Zfp516 T G 18: 82,975,236 (GRCm39) L478R 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
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'- AAAGCGTGGCCATTTTCTTC -3'
(R):5'- GGTTAGGACAGACAGACACC -3'

Sequencing Primer
(F):5'- AAAGCGTGGCCATTTTCTTCTTACC -3'
(R):5'- TCCCTCTGGACTAGATGCTGG -3'
Posted On 2015-10-21