Incidental Mutation 'R6427:Ddr1'
| ID |
518379 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddr1
|
| Ensembl Gene |
ENSMUSG00000003534 |
| Gene Name |
discoidin domain receptor family, member 1 |
| Synonyms |
CD167a, Cak |
| MMRRC Submission |
044566-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R6427 (G1)
|
| Quality Score |
186.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35992459-36015513 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 35998114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 477
(R477L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003628]
[ENSMUST00000097333]
[ENSMUST00000117301]
[ENSMUST00000119825]
[ENSMUST00000134995]
[ENSMUST00000145900]
[ENSMUST00000146472]
[ENSMUST00000166980]
[ENSMUST00000155628]
[ENSMUST00000155957]
[ENSMUST00000148065]
|
| AlphaFold |
Q03146 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003628
AA Change: R477L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000003628
Gene: ENSMUSG00000003534
AA Change: R477L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FA58C
|
31 |
186 |
1.3e-36 |
SMART |
|
low complexity region
|
218 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
390 |
N/A |
INTRINSIC |
|
transmembrane domain
|
415 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
492 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
530 |
N/A |
INTRINSIC |
|
low complexity region
|
548 |
565 |
N/A |
INTRINSIC |
|
TyrKc
|
608 |
903 |
3.9e-131 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097333
AA Change: R477L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000094945
Gene: ENSMUSG00000003534
AA Change: R477L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FA58C
|
31 |
186 |
2.75e-34 |
SMART |
|
low complexity region
|
218 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
390 |
N/A |
INTRINSIC |
|
transmembrane domain
|
415 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
492 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
528 |
N/A |
INTRINSIC |
|
TyrKc
|
571 |
866 |
8.14e-129 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117301
AA Change: R477L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112570
Gene: ENSMUSG00000003534
AA Change: R477L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FA58C
|
31 |
186 |
1.3e-36 |
SMART |
|
low complexity region
|
218 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
390 |
N/A |
INTRINSIC |
|
transmembrane domain
|
415 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
492 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
530 |
N/A |
INTRINSIC |
|
low complexity region
|
548 |
565 |
N/A |
INTRINSIC |
|
TyrKc
|
608 |
903 |
4e-131 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119825
AA Change: R477L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113062
Gene: ENSMUSG00000003534
AA Change: R477L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FA58C
|
31 |
186 |
1.3e-36 |
SMART |
|
low complexity region
|
218 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
390 |
N/A |
INTRINSIC |
|
transmembrane domain
|
415 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
492 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
530 |
N/A |
INTRINSIC |
|
low complexity region
|
548 |
565 |
N/A |
INTRINSIC |
|
TyrKc
|
608 |
903 |
3.9e-131 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134995
|
| SMART Domains |
Protein: ENSMUSP00000117301
Gene: ENSMUSG00000003534
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FA58C
|
31 |
186 |
2.75e-34 |
SMART |
|
low complexity region
|
218 |
236 |
N/A |
INTRINSIC |
|
Blast:FA58C
|
239 |
264 |
2e-7 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145900
|
| SMART Domains |
Protein: ENSMUSP00000122361
Gene: ENSMUSG00000003534
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FA58C
|
31 |
186 |
2.75e-34 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146472
|
| SMART Domains |
Protein: ENSMUSP00000119397
Gene: ENSMUSG00000003534
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FA58C
|
31 |
186 |
2.75e-34 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166980
AA Change: R477L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133047
Gene: ENSMUSG00000003534
AA Change: R477L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FA58C
|
31 |
186 |
1.3e-36 |
SMART |
|
low complexity region
|
218 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
390 |
N/A |
INTRINSIC |
|
transmembrane domain
|
415 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
492 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
530 |
N/A |
INTRINSIC |
|
low complexity region
|
548 |
565 |
N/A |
INTRINSIC |
|
TyrKc
|
608 |
903 |
3.9e-131 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155628
AA Change: R477L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133659
Gene: ENSMUSG00000003534
AA Change: R477L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FA58C
|
31 |
186 |
2.75e-34 |
SMART |
|
low complexity region
|
218 |
236 |
N/A |
INTRINSIC |
|
Blast:FA58C
|
239 |
319 |
1e-45 |
BLAST |
|
low complexity region
|
379 |
390 |
N/A |
INTRINSIC |
|
transmembrane domain
|
415 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
492 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
528 |
N/A |
INTRINSIC |
|
PDB:4CKR|A
|
562 |
584 |
3e-6 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155957
|
| SMART Domains |
Protein: ENSMUSP00000117427
Gene: ENSMUSG00000003534
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FA58C
|
31 |
186 |
2.75e-34 |
SMART |
|
low complexity region
|
192 |
209 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148065
|
| SMART Domains |
Protein: ENSMUSP00000120635
Gene: ENSMUSG00000003534
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:FA58C
|
1 |
56 |
2e-33 |
BLAST |
|
SCOP:d1d7pm_
|
1 |
58 |
2e-11 |
SMART |
|
PDB:4AG4|A
|
1 |
143 |
3e-73 |
PDB |
|
Blast:FA58C
|
109 |
143 |
1e-13 |
BLAST |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
93% (39/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Receptor tyrosine kinases play a key role in the communication of cells with their microenvironment. These kinases are involved in the regulation of cell growth, differentiation and metabolism. The protein encoded by this gene belongs to a subfamily of tyrosine kinase receptors with homology to Dictyostelium discoideum protein discoidin I in their extracellular domain, and that are activated by various types of collagen. Expression of this protein is restricted to epithelial cells, particularly in the kidney, lung, gastrointestinal tract, and brain. In addition, it has been shown to be significantly overexpressed in several human tumors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous mutant mice are viable but smaller than control mice. Most mutant females are not able to give birth because developing blastocysts fail to implant. Successfully reproducing females show a lactation defect which is attributed to hyperproliferation and aberrant branching of mammary ducts. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
| Ankmy2 |
A |
G |
12: 36,237,710 (GRCm39) |
S270G |
possibly damaging |
Het |
| Anxa2 |
T |
A |
9: 69,383,431 (GRCm39) |
|
probably null |
Het |
| Arid1a |
G |
T |
4: 133,408,835 (GRCm39) |
P1891T |
unknown |
Het |
| Atn1 |
G |
T |
6: 124,723,139 (GRCm39) |
|
probably benign |
Het |
| Atp8b3 |
A |
T |
10: 80,356,157 (GRCm39) |
|
probably null |
Het |
| Cab39l |
A |
C |
14: 59,743,719 (GRCm39) |
K94N |
possibly damaging |
Het |
| Cacna2d2 |
G |
T |
9: 107,392,641 (GRCm39) |
M528I |
possibly damaging |
Het |
| Ccnc |
T |
A |
4: 21,747,578 (GRCm39) |
|
probably null |
Het |
| Cfap251 |
T |
C |
5: 123,464,596 (GRCm39) |
L1268P |
probably damaging |
Het |
| Clasp2 |
C |
T |
9: 113,721,512 (GRCm39) |
T774I |
probably damaging |
Het |
| Cngb1 |
C |
T |
8: 96,024,387 (GRCm39) |
|
probably benign |
Het |
| Cpt1a |
T |
A |
19: 3,412,156 (GRCm39) |
F209L |
probably damaging |
Het |
| Cyp2j7 |
C |
A |
4: 96,115,904 (GRCm39) |
D181Y |
probably damaging |
Het |
| Daam2 |
C |
T |
17: 49,776,404 (GRCm39) |
E828K |
probably damaging |
Het |
| Ech1 |
A |
G |
7: 28,525,310 (GRCm39) |
T22A |
probably benign |
Het |
| Fbln5 |
T |
C |
12: 101,728,081 (GRCm39) |
D294G |
possibly damaging |
Het |
| Fkbp15 |
T |
C |
4: 62,241,439 (GRCm39) |
I569V |
probably benign |
Het |
| Hmcn1 |
G |
T |
1: 150,573,227 (GRCm39) |
R2141S |
possibly damaging |
Het |
| Kat6b |
T |
C |
14: 21,567,480 (GRCm39) |
S180P |
probably benign |
Het |
| Lepr |
G |
A |
4: 101,631,454 (GRCm39) |
E655K |
possibly damaging |
Het |
| Mro |
T |
A |
18: 74,005,104 (GRCm39) |
L69Q |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,381,049 (GRCm39) |
L581H |
probably benign |
Het |
| Nkiras2 |
C |
T |
11: 100,515,861 (GRCm39) |
R63W |
probably damaging |
Het |
| Nlrp4e |
T |
A |
7: 23,020,058 (GRCm39) |
S182T |
possibly damaging |
Het |
| Obi1 |
T |
C |
14: 104,717,662 (GRCm39) |
K237R |
possibly damaging |
Het |
| Or52b4i |
A |
T |
7: 102,191,895 (GRCm39) |
I251F |
probably benign |
Het |
| Otud4 |
T |
C |
8: 80,395,126 (GRCm39) |
S553P |
probably benign |
Het |
| Pcdha4 |
T |
C |
18: 37,086,786 (GRCm39) |
I323T |
probably benign |
Het |
| Polr1b |
G |
T |
2: 128,965,181 (GRCm39) |
A756S |
probably damaging |
Het |
| Prex2 |
A |
T |
1: 11,252,255 (GRCm39) |
Y1100F |
probably damaging |
Het |
| Serpinb6a |
A |
T |
13: 34,102,242 (GRCm39) |
S328T |
probably damaging |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,774,998 (GRCm39) |
T52A |
probably damaging |
Het |
| Taf3 |
A |
T |
2: 9,956,164 (GRCm39) |
F515I |
probably damaging |
Het |
| Unc13b |
A |
G |
4: 43,176,966 (GRCm39) |
|
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vps51 |
T |
C |
19: 6,120,947 (GRCm39) |
Y322C |
possibly damaging |
Het |
| Zfp735 |
G |
A |
11: 73,581,140 (GRCm39) |
C59Y |
possibly damaging |
Het |
| Zfp759 |
A |
G |
13: 67,287,162 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ddr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02021:Ddr1
|
APN |
17 |
35,994,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02126:Ddr1
|
APN |
17 |
35,999,481 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02167:Ddr1
|
APN |
17 |
36,000,963 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02250:Ddr1
|
APN |
17 |
35,994,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02251:Ddr1
|
APN |
17 |
35,994,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02367:Ddr1
|
APN |
17 |
35,994,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Checkpoint
|
UTSW |
17 |
35,994,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Mauer
|
UTSW |
17 |
36,000,561 (GRCm39) |
nonsense |
probably null |
|
|
PIT4449001:Ddr1
|
UTSW |
17 |
35,998,141 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0538:Ddr1
|
UTSW |
17 |
35,995,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0674:Ddr1
|
UTSW |
17 |
36,000,561 (GRCm39) |
nonsense |
probably null |
|
|
R4829:Ddr1
|
UTSW |
17 |
35,996,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4940:Ddr1
|
UTSW |
17 |
36,001,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5085:Ddr1
|
UTSW |
17 |
35,993,667 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5112:Ddr1
|
UTSW |
17 |
35,993,377 (GRCm39) |
missense |
probably benign |
|
|
R5124:Ddr1
|
UTSW |
17 |
35,994,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5652:Ddr1
|
UTSW |
17 |
35,997,400 (GRCm39) |
missense |
probably benign |
|
|
R5653:Ddr1
|
UTSW |
17 |
35,997,400 (GRCm39) |
missense |
probably benign |
|
|
R5654:Ddr1
|
UTSW |
17 |
35,997,400 (GRCm39) |
missense |
probably benign |
|
|
R7226:Ddr1
|
UTSW |
17 |
36,002,039 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7405:Ddr1
|
UTSW |
17 |
36,000,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7534:Ddr1
|
UTSW |
17 |
35,993,514 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7568:Ddr1
|
UTSW |
17 |
35,995,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8010:Ddr1
|
UTSW |
17 |
36,002,384 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8736:Ddr1
|
UTSW |
17 |
35,995,104 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8889:Ddr1
|
UTSW |
17 |
35,993,556 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8892:Ddr1
|
UTSW |
17 |
35,993,556 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9224:Ddr1
|
UTSW |
17 |
36,000,609 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9457:Ddr1
|
UTSW |
17 |
35,993,650 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9700:Ddr1
|
UTSW |
17 |
35,993,288 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCACACAGTGACAGGATGG -3'
(R):5'- CCACATGTCCATTGTGGTTG -3'
Sequencing Primer
(F):5'- TGACAGGATGGGCCCATTG -3'
(R):5'- ACATGTCCATTGTGGTTGATCATTAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation