Incidental Mutation 'R7248:Ddr2'
| ID |
563658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddr2
|
| Ensembl Gene |
ENSMUSG00000026674 |
| Gene Name |
discoidin domain receptor family, member 2 |
| Synonyms |
Ntrkr3 |
| MMRRC Submission |
045311-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7248 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
169799876-169938331 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 169822198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 417
(V417I)
|
| 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: V417I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000027985
Gene: ENSMUSG00000026674
AA Change: V417I
| Domain | Start | End | E-Value | Type |
|---|
|
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: V417I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000129624
Gene: ENSMUSG00000026674
AA Change: V417I
| Domain | Start | End | E-Value | Type |
|---|
|
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: V417I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000141443
Gene: ENSMUSG00000026674
AA Change: V417I
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
0.1041 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
97% (75/77) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
G |
3: 124,207,959 (GRCm39) |
|
probably null |
Het |
| Aldh16a1 |
A |
G |
7: 44,795,018 (GRCm39) |
Y484H |
probably damaging |
Het |
| Arhgap26 |
T |
C |
18: 39,439,907 (GRCm39) |
|
probably null |
Het |
| Atxn7l1 |
A |
G |
12: 33,417,194 (GRCm39) |
T452A |
probably benign |
Het |
| Baz1a |
C |
T |
12: 54,947,293 (GRCm39) |
E1119K |
probably damaging |
Het |
| Btaf1 |
A |
T |
19: 36,922,714 (GRCm39) |
E39D |
possibly damaging |
Het |
| Bud13 |
G |
T |
9: 46,194,413 (GRCm39) |
E29* |
probably null |
Het |
| Ccdc150 |
C |
T |
1: 54,344,057 (GRCm39) |
T530I |
probably benign |
Het |
| Chd6 |
G |
A |
2: 160,803,199 (GRCm39) |
Q2160* |
probably null |
Het |
| Cluap1 |
T |
A |
16: 3,737,364 (GRCm39) |
I172N |
possibly damaging |
Het |
| Cnot2 |
T |
C |
10: 116,334,278 (GRCm39) |
N329S |
probably benign |
Het |
| Cog4 |
A |
T |
8: 111,608,834 (GRCm39) |
T175S |
unknown |
Het |
| Coq7 |
C |
A |
7: 118,128,897 (GRCm39) |
R46L |
probably benign |
Het |
| D630045J12Rik |
A |
T |
6: 38,145,198 (GRCm39) |
V1276E |
probably damaging |
Het |
| Dcaf15 |
A |
G |
8: 84,829,394 (GRCm39) |
V116A |
possibly damaging |
Het |
| Defa25 |
G |
A |
8: 21,575,216 (GRCm39) |
C65Y |
probably damaging |
Het |
| Dhx38 |
T |
C |
8: 110,285,559 (GRCm39) |
T425A |
probably benign |
Het |
| Diaph1 |
T |
C |
18: 38,022,829 (GRCm39) |
T782A |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,181,245 (GRCm39) |
M1044K |
possibly damaging |
Het |
| Dusp16 |
G |
A |
6: 134,695,940 (GRCm39) |
T297M |
probably benign |
Het |
| Esyt2 |
A |
G |
12: 116,305,858 (GRCm39) |
N363D |
probably damaging |
Het |
| Fasl |
C |
T |
1: 161,615,760 (GRCm39) |
C32Y |
possibly damaging |
Het |
| Flg |
T |
C |
3: 93,189,041 (GRCm39) |
V137A |
probably benign |
Het |
| Gm57858 |
T |
A |
3: 36,080,086 (GRCm39) |
T224S |
probably benign |
Het |
| Gpr150 |
G |
A |
13: 76,204,126 (GRCm39) |
A273V |
probably benign |
Het |
| Grk5 |
A |
G |
19: 60,879,045 (GRCm39) |
T10A |
probably benign |
Het |
| Hivep2 |
A |
G |
10: 14,006,909 (GRCm39) |
K1169R |
possibly damaging |
Het |
| Ido2 |
A |
C |
8: 25,030,657 (GRCm39) |
Y224* |
probably null |
Het |
| Ido2 |
A |
G |
8: 25,038,839 (GRCm39) |
I149T |
probably damaging |
Het |
| Iqca1l |
C |
T |
5: 24,749,269 (GRCm39) |
S743N |
probably benign |
Het |
| Kctd2 |
A |
G |
11: 115,312,845 (GRCm39) |
T126A |
possibly damaging |
Het |
| Khdc4 |
T |
C |
3: 88,600,886 (GRCm39) |
S228P |
probably damaging |
Het |
| Kif1a |
T |
C |
1: 92,969,305 (GRCm39) |
D1090G |
probably benign |
Het |
| Klrb1a |
A |
T |
6: 128,586,697 (GRCm39) |
H222Q |
possibly damaging |
Het |
| Kndc1 |
A |
C |
7: 139,500,699 (GRCm39) |
H688P |
probably damaging |
Het |
| Lrriq1 |
C |
A |
10: 103,059,611 (GRCm39) |
V141F |
possibly damaging |
Het |
| Malrd1 |
A |
G |
2: 16,106,722 (GRCm39) |
I1845V |
unknown |
Het |
| Mob3c |
G |
A |
4: 115,688,881 (GRCm39) |
R138H |
probably benign |
Het |
| Mre11a |
T |
A |
9: 14,723,209 (GRCm39) |
D394E |
possibly damaging |
Het |
| Myh7b |
A |
T |
2: 155,464,106 (GRCm39) |
I536F |
probably damaging |
Het |
| Nacad |
T |
A |
11: 6,548,589 (GRCm39) |
K1382* |
probably null |
Het |
| Ncor1 |
T |
C |
11: 62,275,598 (GRCm39) |
K128R |
possibly damaging |
Het |
| Or10am5 |
T |
C |
7: 6,517,520 (GRCm39) |
N303D |
probably damaging |
Het |
| Ostn |
T |
A |
16: 27,165,719 (GRCm39) |
|
probably null |
Het |
| Pacs1 |
G |
A |
19: 5,189,003 (GRCm39) |
T793I |
probably damaging |
Het |
| Pcdhb2 |
T |
C |
18: 37,429,547 (GRCm39) |
S507P |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,152,597 (GRCm39) |
K393E |
possibly damaging |
Het |
| Pfkl |
T |
A |
10: 77,825,423 (GRCm39) |
N656Y |
probably damaging |
Het |
| Phf20 |
T |
A |
2: 156,135,331 (GRCm39) |
|
probably null |
Het |
| Plekha6 |
G |
T |
1: 133,203,586 (GRCm39) |
E550* |
probably null |
Het |
| Plxna4 |
A |
T |
6: 32,139,095 (GRCm39) |
V1691E |
probably damaging |
Het |
| Rag1 |
A |
T |
2: 101,472,123 (GRCm39) |
H1006Q |
probably damaging |
Het |
| Rfx4 |
C |
T |
10: 84,740,919 (GRCm39) |
P679L |
probably benign |
Het |
| Ripor2 |
A |
G |
13: 24,878,128 (GRCm39) |
H301R |
probably damaging |
Het |
| Rrp12 |
A |
T |
19: 41,871,877 (GRCm39) |
I469N |
possibly damaging |
Het |
| Serpinb6b |
A |
G |
13: 33,161,559 (GRCm39) |
T211A |
probably benign |
Het |
| Sf1 |
A |
T |
19: 6,426,383 (GRCm39) |
H547L |
unknown |
Het |
| Slc29a1 |
T |
C |
17: 45,903,108 (GRCm39) |
D9G |
probably damaging |
Het |
| Sptan1 |
T |
A |
2: 29,892,311 (GRCm39) |
M1075K |
probably benign |
Het |
| Syngap1 |
A |
G |
17: 27,176,741 (GRCm39) |
D474G |
probably damaging |
Het |
| Syt16 |
C |
T |
12: 74,313,483 (GRCm39) |
R470C |
probably damaging |
Het |
| Timeless |
A |
G |
10: 128,087,870 (GRCm39) |
T1148A |
probably benign |
Het |
| Tmem116 |
A |
T |
5: 121,601,899 (GRCm39) |
|
probably null |
Het |
| Tmem158 |
A |
T |
9: 123,089,390 (GRCm39) |
I74N |
probably damaging |
Het |
| Traf5 |
T |
A |
1: 191,743,432 (GRCm39) |
D174V |
probably benign |
Het |
| Trim65 |
A |
T |
11: 116,018,534 (GRCm39) |
I247N |
probably benign |
Het |
| Tsfm |
A |
T |
10: 126,847,500 (GRCm39) |
V197E |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,604,562 (GRCm39) |
C539R |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,655,406 (GRCm39) |
F1874Y |
probably benign |
Het |
| Wdr6 |
A |
G |
9: 108,453,238 (GRCm39) |
M215T |
possibly damaging |
Het |
| Wdr75 |
T |
A |
1: 45,856,560 (GRCm39) |
W528R |
probably damaging |
Het |
| Zc3h7b |
A |
G |
15: 81,655,988 (GRCm39) |
D112G |
possibly damaging |
Het |
| Zc3hav1 |
C |
T |
6: 38,330,911 (GRCm39) |
D83N |
probably benign |
Het |
| Zfp369 |
T |
A |
13: 65,443,931 (GRCm39) |
V358E |
probably damaging |
Het |
| Zfp946 |
T |
A |
17: 22,672,489 (GRCm39) |
C29* |
probably null |
Het |
| Zng1 |
A |
G |
19: 24,898,505 (GRCm39) |
S318P |
probably damaging |
Het |
|
| Other mutations in Ddr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- TGGTGTCATGGCAGTACAGG -3'
(R):5'- CTGGAATTCTCCTGAAAGACCAG -3'
Sequencing Primer
(F):5'- CTTGACACAGCTGGAGTTATCACAG -3'
(R):5'- CTCTCATTTGCCCTAGGAAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation