Incidental Mutation 'R0299:Pdgfrb'
| ID |
24817 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdgfrb
|
| Ensembl Gene |
ENSMUSG00000024620 |
| Gene Name |
platelet derived growth factor receptor, beta polypeptide |
| Synonyms |
CD140b, Pdgfr |
| MMRRC Submission |
038513-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0299 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
61178222-61218133 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61201924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 496
(V496E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025522]
[ENSMUST00000115274]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025522
AA Change: V492E
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000025522
Gene: ENSMUSG00000024620
AA Change: V492E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
24 |
N/A |
INTRINSIC |
|
IG
|
38 |
120 |
5.58e-2 |
SMART |
|
IGc2
|
225 |
297 |
2.83e-12 |
SMART |
|
IG_like
|
330 |
402 |
1.47e0 |
SMART |
|
Pfam:Ig_2
|
415 |
524 |
5.6e-2 |
PFAM |
|
transmembrane domain
|
534 |
556 |
N/A |
INTRINSIC |
|
TyrKc
|
600 |
958 |
1.11e-135 |
SMART |
|
low complexity region
|
1063 |
1083 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115274
AA Change: V496E
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000110929
Gene: ENSMUSG00000024620
AA Change: V496E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
28 |
N/A |
INTRINSIC |
|
IG
|
42 |
124 |
5.58e-2 |
SMART |
|
IGc2
|
229 |
301 |
2.83e-12 |
SMART |
|
IG_like
|
334 |
406 |
1.47e0 |
SMART |
|
transmembrane domain
|
538 |
560 |
N/A |
INTRINSIC |
|
TyrKc
|
604 |
962 |
1.11e-135 |
SMART |
|
low complexity region
|
1067 |
1087 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1145 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.3%
- 20x: 90.1%
|
| Validation Efficiency |
100% (61/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the translocation, ETV6, leukemia gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants die perinatally with internal bleeding, thrombocytopenia, anemia and kidney defects. A frameshift mutation results in neonatal lethals with edema and hemorrhaging; several point mutations show cardiovascular abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(25) : Targeted(23) Gene trapped(2)
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
G |
A |
18: 70,602,553 (GRCm39) |
Q87* |
probably null |
Het |
| 4933427I04Rik |
A |
T |
4: 123,754,615 (GRCm39) |
R176S |
possibly damaging |
Het |
| A2ml1 |
T |
G |
6: 128,530,195 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
G |
A |
11: 9,248,076 (GRCm39) |
E2608K |
probably benign |
Het |
| Acp3 |
T |
C |
9: 104,197,201 (GRCm39) |
E146G |
probably damaging |
Het |
| Adcy8 |
T |
A |
15: 64,588,015 (GRCm39) |
D894V |
probably damaging |
Het |
| Ap4b1 |
T |
C |
3: 103,717,262 (GRCm39) |
M1T |
probably null |
Het |
| Arg2 |
A |
G |
12: 79,194,386 (GRCm39) |
D70G |
probably damaging |
Het |
| Atxn1 |
A |
G |
13: 45,720,645 (GRCm39) |
S417P |
probably damaging |
Het |
| Btbd10 |
A |
T |
7: 112,929,085 (GRCm39) |
S230T |
possibly damaging |
Het |
| Carmil1 |
T |
A |
13: 24,266,003 (GRCm39) |
N253I |
probably damaging |
Het |
| Celf6 |
C |
A |
9: 59,510,161 (GRCm39) |
T86K |
probably benign |
Het |
| Clec2h |
T |
C |
6: 128,647,858 (GRCm39) |
V69A |
probably damaging |
Het |
| Col15a1 |
A |
T |
4: 47,262,950 (GRCm39) |
D534V |
probably damaging |
Het |
| Col16a1 |
TCCCC |
TCCC |
4: 129,952,111 (GRCm39) |
|
probably null |
Het |
| Degs1 |
A |
T |
1: 182,106,836 (GRCm39) |
I141N |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 30,998,115 (GRCm39) |
G2574D |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,934,483 (GRCm39) |
F1489L |
possibly damaging |
Het |
| Dock10 |
T |
C |
1: 80,514,646 (GRCm39) |
R1424G |
probably damaging |
Het |
| Elp2 |
T |
C |
18: 24,767,466 (GRCm39) |
I716T |
probably benign |
Het |
| Frk |
T |
C |
10: 34,360,367 (GRCm39) |
|
probably null |
Het |
| Fshr |
C |
G |
17: 89,316,713 (GRCm39) |
S169T |
probably benign |
Het |
| Gin1 |
T |
A |
1: 97,710,741 (GRCm39) |
S141R |
possibly damaging |
Het |
| Gm11596 |
G |
A |
11: 99,683,770 (GRCm39) |
P117S |
unknown |
Het |
| Gm6327 |
T |
C |
16: 12,579,061 (GRCm39) |
|
noncoding transcript |
Het |
| Hepacam2 |
A |
G |
6: 3,476,121 (GRCm39) |
L268P |
probably damaging |
Het |
| Hps6 |
G |
A |
19: 45,992,671 (GRCm39) |
V203M |
probably damaging |
Het |
| Hsd17b7 |
G |
A |
1: 169,787,363 (GRCm39) |
|
probably benign |
Het |
| Il18rap |
A |
T |
1: 40,564,218 (GRCm39) |
H112L |
probably benign |
Het |
| Il1r2 |
T |
A |
1: 40,162,309 (GRCm39) |
Y317* |
probably null |
Het |
| Ints8 |
C |
A |
4: 11,246,097 (GRCm39) |
V190L |
probably benign |
Het |
| Me2 |
A |
G |
18: 73,903,744 (GRCm39) |
S575P |
probably benign |
Het |
| Mecom |
A |
G |
3: 30,034,560 (GRCm39) |
L372P |
probably benign |
Het |
| Mss51 |
T |
A |
14: 20,534,756 (GRCm39) |
Q338L |
possibly damaging |
Het |
| Muc2 |
C |
T |
7: 141,306,466 (GRCm39) |
T296I |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,569,013 (GRCm39) |
|
probably benign |
Het |
| Neto1 |
G |
A |
18: 86,479,445 (GRCm39) |
R211Q |
probably benign |
Het |
| Nisch |
A |
G |
14: 30,893,881 (GRCm39) |
Y1231H |
probably damaging |
Het |
| Or10ak14 |
A |
T |
4: 118,611,732 (GRCm39) |
M1K |
probably null |
Het |
| Or10ak9 |
A |
G |
4: 118,726,613 (GRCm39) |
I212V |
probably benign |
Het |
| Pcsk6 |
T |
C |
7: 65,688,791 (GRCm39) |
V820A |
probably benign |
Het |
| Pdcd10 |
T |
C |
3: 75,434,958 (GRCm39) |
K111R |
probably damaging |
Het |
| Pelo |
A |
T |
13: 115,225,439 (GRCm39) |
C40* |
probably null |
Het |
| Plxnc1 |
C |
T |
10: 94,685,683 (GRCm39) |
|
probably null |
Het |
| Ptpru |
G |
A |
4: 131,530,698 (GRCm39) |
Q519* |
probably null |
Het |
| Pzp |
A |
G |
6: 128,472,293 (GRCm39) |
|
probably benign |
Het |
| Rad21 |
A |
T |
15: 51,828,426 (GRCm39) |
D547E |
probably benign |
Het |
| Serpina1d |
A |
T |
12: 103,732,016 (GRCm39) |
L281Q |
probably damaging |
Het |
| Serpina9 |
T |
C |
12: 103,967,729 (GRCm39) |
N222S |
probably benign |
Het |
| Sh3bgrl2 |
A |
G |
9: 83,459,612 (GRCm39) |
K57E |
probably damaging |
Het |
| Shtn1 |
T |
C |
19: 59,007,383 (GRCm39) |
E289G |
probably benign |
Het |
| Sik3 |
T |
C |
9: 46,120,038 (GRCm39) |
M659T |
possibly damaging |
Het |
| Slamf7 |
G |
A |
1: 171,476,499 (GRCm39) |
|
probably benign |
Het |
| Sppl3 |
T |
A |
5: 115,227,053 (GRCm39) |
|
probably benign |
Het |
| Suco |
G |
A |
1: 161,681,379 (GRCm39) |
T253I |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,263,359 (GRCm39) |
D1409G |
probably damaging |
Het |
| Tram2 |
T |
C |
1: 21,074,468 (GRCm39) |
D238G |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,964,237 (GRCm39) |
M1244T |
possibly damaging |
Het |
| Trub1 |
A |
G |
19: 57,472,057 (GRCm39) |
T178A |
possibly damaging |
Het |
| Ugcg |
G |
C |
4: 59,217,036 (GRCm39) |
V187L |
possibly damaging |
Het |
| Vmn1r25 |
T |
A |
6: 57,955,494 (GRCm39) |
Q265L |
probably damaging |
Het |
| Zfp821 |
G |
T |
8: 110,450,862 (GRCm39) |
R285L |
probably damaging |
Het |
|
| Other mutations in Pdgfrb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00553:Pdgfrb
|
APN |
18 |
61,202,008 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01396:Pdgfrb
|
APN |
18 |
61,205,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02377:Pdgfrb
|
APN |
18 |
61,213,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02435:Pdgfrb
|
APN |
18 |
61,197,998 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03397:Pdgfrb
|
APN |
18 |
61,212,753 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0021:Pdgfrb
|
UTSW |
18 |
61,197,998 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0021:Pdgfrb
|
UTSW |
18 |
61,197,998 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0087:Pdgfrb
|
UTSW |
18 |
61,194,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0119:Pdgfrb
|
UTSW |
18 |
61,201,924 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0532:Pdgfrb
|
UTSW |
18 |
61,216,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0570:Pdgfrb
|
UTSW |
18 |
61,210,775 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0629:Pdgfrb
|
UTSW |
18 |
61,211,720 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0650:Pdgfrb
|
UTSW |
18 |
61,212,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0853:Pdgfrb
|
UTSW |
18 |
61,213,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1165:Pdgfrb
|
UTSW |
18 |
61,197,074 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1342:Pdgfrb
|
UTSW |
18 |
61,198,952 (GRCm39) |
nonsense |
probably null |
|
|
R1740:Pdgfrb
|
UTSW |
18 |
61,214,905 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1808:Pdgfrb
|
UTSW |
18 |
61,201,174 (GRCm39) |
missense |
probably benign |
|
|
R1864:Pdgfrb
|
UTSW |
18 |
61,204,789 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1960:Pdgfrb
|
UTSW |
18 |
61,198,855 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1961:Pdgfrb
|
UTSW |
18 |
61,194,577 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1970:Pdgfrb
|
UTSW |
18 |
61,199,566 (GRCm39) |
splice site |
probably benign |
|
|
R2011:Pdgfrb
|
UTSW |
18 |
61,194,566 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2012:Pdgfrb
|
UTSW |
18 |
61,194,566 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2018:Pdgfrb
|
UTSW |
18 |
61,216,406 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2153:Pdgfrb
|
UTSW |
18 |
61,205,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2497:Pdgfrb
|
UTSW |
18 |
61,211,700 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2846:Pdgfrb
|
UTSW |
18 |
61,197,088 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3776:Pdgfrb
|
UTSW |
18 |
61,214,992 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3779:Pdgfrb
|
UTSW |
18 |
61,205,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3816:Pdgfrb
|
UTSW |
18 |
61,212,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3978:Pdgfrb
|
UTSW |
18 |
61,206,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4259:Pdgfrb
|
UTSW |
18 |
61,210,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4261:Pdgfrb
|
UTSW |
18 |
61,210,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4327:Pdgfrb
|
UTSW |
18 |
61,204,792 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4329:Pdgfrb
|
UTSW |
18 |
61,204,792 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4598:Pdgfrb
|
UTSW |
18 |
61,201,829 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4668:Pdgfrb
|
UTSW |
18 |
61,197,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4761:Pdgfrb
|
UTSW |
18 |
61,212,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4787:Pdgfrb
|
UTSW |
18 |
61,212,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4828:Pdgfrb
|
UTSW |
18 |
61,206,315 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5030:Pdgfrb
|
UTSW |
18 |
61,198,207 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5033:Pdgfrb
|
UTSW |
18 |
61,210,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5447:Pdgfrb
|
UTSW |
18 |
61,201,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6224:Pdgfrb
|
UTSW |
18 |
61,215,011 (GRCm39) |
nonsense |
probably null |
|
|
R6807:Pdgfrb
|
UTSW |
18 |
61,211,721 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6858:Pdgfrb
|
UTSW |
18 |
61,198,219 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7017:Pdgfrb
|
UTSW |
18 |
61,214,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7089:Pdgfrb
|
UTSW |
18 |
61,206,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7174:Pdgfrb
|
UTSW |
18 |
61,199,587 (GRCm39) |
missense |
probably benign |
|
|
R7374:Pdgfrb
|
UTSW |
18 |
61,204,780 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7496:Pdgfrb
|
UTSW |
18 |
61,212,004 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7565:Pdgfrb
|
UTSW |
18 |
61,216,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7615:Pdgfrb
|
UTSW |
18 |
61,197,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7691:Pdgfrb
|
UTSW |
18 |
61,194,340 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7884:Pdgfrb
|
UTSW |
18 |
61,205,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8481:Pdgfrb
|
UTSW |
18 |
61,198,814 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8735:Pdgfrb
|
UTSW |
18 |
61,197,049 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8737:Pdgfrb
|
UTSW |
18 |
61,214,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9067:Pdgfrb
|
UTSW |
18 |
61,201,291 (GRCm39) |
missense |
probably null |
0.93 |
|
R9106:Pdgfrb
|
UTSW |
18 |
61,179,100 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9161:Pdgfrb
|
UTSW |
18 |
61,197,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9234:Pdgfrb
|
UTSW |
18 |
61,194,300 (GRCm39) |
missense |
probably null |
0.00 |
|
R9380:Pdgfrb
|
UTSW |
18 |
61,197,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9452:Pdgfrb
|
UTSW |
18 |
61,198,798 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9491:Pdgfrb
|
UTSW |
18 |
61,212,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9646:Pdgfrb
|
UTSW |
18 |
61,211,721 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9717:Pdgfrb
|
UTSW |
18 |
61,205,787 (GRCm39) |
nonsense |
probably null |
|
|
X0060:Pdgfrb
|
UTSW |
18 |
61,215,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAAGAGAGCCTGCAAGCCAGTCC -3'
(R):5'- ACCTTCTGCACACGAGAGTCAATG -3'
Sequencing Primer
(F):5'- GCAAGCCAGTCCTTTTGTG -3'
(R):5'- TGCATAGGAACGTACTCTGGTAG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation