Incidental Mutation 'R9328:Ddr2'
ID 706617
Institutional Source Beutler Lab
Gene Symbol Ddr2
Ensembl Gene ENSMUSG00000026674
Gene Name discoidin domain receptor family, member 2
Synonyms Ntrkr3
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9328 (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 G at 169829504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 250 (V250A)
Ref Sequence ENSEMBL: ENSMUSP00000027985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027985] [ENSMUST00000170800] [ENSMUST00000192312] [ENSMUST00000194690]
AlphaFold Q62371
Predicted Effect probably benign
Transcript: ENSMUST00000027985
AA Change: V250A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000027985
Gene: ENSMUSG00000026674
AA Change: V250A

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: V250A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000129624
Gene: ENSMUSG00000026674
AA Change: V250A

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: V250A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000141443
Gene: ENSMUSG00000026674
AA Change: V250A

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C10Rik A G 7: 37,894,272 (GRCm39) T102A probably benign Het
1700109H08Rik A G 5: 3,632,161 (GRCm39) K164E possibly damaging Het
2610042L04Rik C T 14: 4,350,013 (GRCm38) Q74* probably null Het
Aadacl4fm4 T A 4: 144,401,256 (GRCm39) H76L probably benign Het
Adgrb2 T A 4: 129,915,363 (GRCm39) M1381K probably damaging Het
Adgrv1 C A 13: 81,620,523 (GRCm39) D3975Y probably damaging Het
Ano10 C T 9: 122,090,168 (GRCm39) E382K possibly damaging Het
Ascc3 T C 10: 50,535,015 (GRCm39) V636A probably damaging Het
AU040320 T C 4: 126,729,332 (GRCm39) V498A possibly damaging Het
Bahcc1 C T 11: 120,165,885 (GRCm39) T1047I possibly damaging Het
BC004004 A T 17: 29,501,682 (GRCm39) T74S possibly damaging Het
Bend3 A G 10: 43,387,419 (GRCm39) D604G possibly damaging Het
Brinp3 T A 1: 146,707,455 (GRCm39) V373E probably damaging Het
Bsph2 A T 7: 13,290,764 (GRCm39) D38E probably benign Het
Castor1 T C 11: 4,170,423 (GRCm39) F140L probably benign Het
Catsperd A G 17: 56,965,074 (GRCm39) I474V possibly damaging Het
Ccdc180 A G 4: 45,902,447 (GRCm39) N292S possibly damaging Het
Cd1d1 A T 3: 86,905,459 (GRCm39) V178E possibly damaging Het
Cdca2 T A 14: 67,931,131 (GRCm39) R521W probably damaging Het
Champ1 A G 8: 13,929,392 (GRCm39) K517E probably damaging Het
Chrna9 T C 5: 66,128,569 (GRCm39) F259S probably damaging Het
Chuk A T 19: 44,085,422 (GRCm39) C241* probably null Het
Clns1a A G 7: 97,363,240 (GRCm39) Y204C probably benign Het
Cplane1 A G 15: 8,215,692 (GRCm39) D416G probably damaging Het
Cyp2j7 A T 4: 96,115,869 (GRCm39) N192K probably damaging Het
Dlgap2 A G 8: 14,777,441 (GRCm39) S229G probably damaging Het
Dmrt1 A T 19: 25,523,231 (GRCm39) H194L probably damaging Het
Dock7 A T 4: 98,968,064 (GRCm39) F138I Het
Dsg2 T C 18: 20,715,847 (GRCm39) V263A possibly damaging Het
Dusp16 A G 6: 134,716,902 (GRCm39) L135P probably damaging Het
Dysf A G 6: 84,050,895 (GRCm39) N414S probably damaging Het
Efhc1 A G 1: 21,030,598 (GRCm39) Y177C probably damaging Het
Fam83e A T 7: 45,372,912 (GRCm39) R174S probably benign Het
Fgf4 C T 7: 144,416,664 (GRCm39) L199F probably damaging Het
Fignl2 A G 15: 100,951,271 (GRCm39) L337P unknown Het
Gm4353 T C 7: 115,682,724 (GRCm39) R286G probably damaging Het
Gm5142 T C 14: 59,416,126 (GRCm39) S11G probably benign Het
Gpr151 A G 18: 42,712,270 (GRCm39) V136A probably damaging Het
Ift80 T A 3: 68,847,483 (GRCm39) I338F probably damaging Het
Itgb4 A G 11: 115,880,625 (GRCm39) S693G probably benign Het
Kif13a T A 13: 46,951,838 (GRCm39) I812F probably damaging Het
Krit1 T C 5: 3,862,577 (GRCm39) probably null Het
Mapk6 T C 9: 75,305,252 (GRCm39) D55G possibly damaging Het
Matn3 A G 12: 9,002,033 (GRCm39) I82V possibly damaging Het
Mecom T A 3: 30,063,994 (GRCm39) D32V unknown Het
Nacad T C 11: 6,552,417 (GRCm39) H258R possibly damaging Het
Ndufaf5 T A 2: 140,030,752 (GRCm39) S213T possibly damaging Het
Nphp1 C T 2: 127,582,892 (GRCm39) D674N possibly damaging Het
Nsmaf A G 4: 6,426,412 (GRCm39) L250P probably damaging Het
Ogdh T C 11: 6,297,838 (GRCm39) S571P probably benign Het
Or1e31 T C 11: 73,690,478 (GRCm39) Y35C probably damaging Het
Or51i2 T A 7: 103,689,268 (GRCm39) D88E Het
Or8g27 T C 9: 39,129,175 (GRCm39) I174T probably damaging Het
Osbpl11 A G 16: 33,047,245 (GRCm39) I403V probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pira13 T A 7: 3,827,580 (GRCm39) R192S unknown Het
Plat A G 8: 23,268,133 (GRCm39) R300G probably damaging Het
Ppid T C 3: 79,505,059 (GRCm39) I134T probably damaging Het
Rad51ap2 A G 12: 11,507,772 (GRCm39) I565V probably benign Het
Rasa1 T C 13: 85,403,575 (GRCm39) probably null Het
Sema4a C T 3: 88,345,613 (GRCm39) W490* probably null Het
Septin3 A G 15: 82,173,439 (GRCm39) Y257C probably damaging Het
Sh3rf2 C A 18: 42,274,161 (GRCm39) F442L probably benign Het
Sipa1l1 A G 12: 82,388,792 (GRCm39) I339M possibly damaging Het
Six2 T C 17: 85,995,196 (GRCm39) N62S possibly damaging Het
Slc44a5 T C 3: 153,964,678 (GRCm39) I526T probably benign Het
Smarca5 T C 8: 81,447,378 (GRCm39) S402G probably benign Het
Son T A 16: 91,452,645 (GRCm39) V464E possibly damaging Het
Sorcs3 A G 19: 48,785,950 (GRCm39) K1144E probably damaging Het
Stxbp6 A G 12: 44,902,659 (GRCm39) L204P probably damaging Het
Tchh A G 3: 93,351,570 (GRCm39) R337G unknown Het
Tgm4 T C 9: 122,885,697 (GRCm39) V413A possibly damaging Het
Tmem131 G A 1: 36,858,236 (GRCm39) Q704* probably null Het
Tmpo T C 10: 90,998,825 (GRCm39) K321E probably damaging Het
Trim75 G T 8: 65,435,315 (GRCm39) N378K probably benign Het
Tspan18 T A 2: 93,036,065 (GRCm39) I227F probably benign Het
Ttn C T 2: 76,541,526 (GRCm39) W33820* probably null Het
Urb2 T A 8: 124,774,034 (GRCm39) Y1522N probably damaging Het
Zbtb40 T C 4: 136,745,620 (GRCm39) N138D probably benign Het
Zfp715 A T 7: 42,947,328 (GRCm39) H877Q 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
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
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'- ACATCAGCTCAGGGCACATC -3'
(R):5'- GAAAGATTTCTCCTAATCCCTCCAC -3'

Sequencing Primer
(F):5'- AGGGCACATCGGGCATTTTC -3'
(R):5'- GCTCTTTCAAAATCCAGCAGTG -3'
Posted On 2022-04-18