Incidental Mutation 'R1740:Pdgfrb'
| ID |
200311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdgfrb
|
| Ensembl Gene |
ENSMUSG00000024620 |
| Gene Name |
platelet derived growth factor receptor, beta polypeptide |
| Synonyms |
CD140b, Pdgfr |
| MMRRC Submission |
039772-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1740 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
61178222-61218133 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 61214905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 978
(D978V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025522]
[ENSMUST00000115274]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025522
AA Change: D974V
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000025522
Gene: ENSMUSG00000024620
AA Change: D974V
| 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 |
possibly damaging
Transcript: ENSMUST00000115274
AA Change: D978V
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110929
Gene: ENSMUSG00000024620
AA Change: D978V
| 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 |
0.1002 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.5%
- 20x: 93.0%
|
| Validation Efficiency |
99% (69/70) |
| 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 |
|---|
| 2610021A01Rik |
T |
A |
7: 41,275,549 (GRCm39) |
C417* |
probably null |
Het |
| 4930548G14Rik |
G |
A |
15: 46,488,885 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc12 |
T |
A |
8: 87,232,126 (GRCm39) |
K1311* |
probably null |
Het |
| Abcc12 |
T |
C |
8: 87,236,400 (GRCm39) |
D1138G |
possibly damaging |
Het |
| Adam32 |
A |
G |
8: 25,411,314 (GRCm39) |
S116P |
probably damaging |
Het |
| Arhgef26 |
C |
T |
3: 62,331,004 (GRCm39) |
L39F |
probably damaging |
Het |
| Babam1 |
T |
C |
8: 71,855,663 (GRCm39) |
I252T |
probably damaging |
Het |
| Btf3 |
C |
T |
13: 98,452,804 (GRCm39) |
M1I |
probably null |
Het |
| Ccdc61 |
G |
T |
7: 18,637,862 (GRCm39) |
|
probably benign |
Het |
| Ccdc89 |
C |
T |
7: 90,075,946 (GRCm39) |
S52F |
probably damaging |
Het |
| Cds2 |
T |
A |
2: 132,144,133 (GRCm39) |
I320N |
possibly damaging |
Het |
| Cebpe |
T |
C |
14: 54,949,399 (GRCm39) |
Y6C |
probably damaging |
Het |
| Cep250 |
T |
A |
2: 155,815,276 (GRCm39) |
I598N |
probably damaging |
Het |
| Cep350 |
T |
A |
1: 155,804,579 (GRCm39) |
I835F |
probably damaging |
Het |
| Ces3a |
T |
C |
8: 105,775,317 (GRCm39) |
L22P |
probably damaging |
Het |
| Cfap221 |
T |
C |
1: 119,873,558 (GRCm39) |
S490G |
probably benign |
Het |
| Cyp2j11 |
A |
G |
4: 96,207,613 (GRCm39) |
V234A |
probably benign |
Het |
| Dgat1 |
T |
C |
15: 76,386,929 (GRCm39) |
H399R |
probably damaging |
Het |
| Dnah10 |
A |
T |
5: 124,850,254 (GRCm39) |
|
probably null |
Het |
| Ebpl |
T |
G |
14: 61,578,656 (GRCm39) |
K193T |
probably benign |
Het |
| Entpd5 |
T |
C |
12: 84,443,545 (GRCm39) |
N66S |
probably benign |
Het |
| Fcgbp |
G |
T |
7: 27,800,674 (GRCm39) |
G1240V |
possibly damaging |
Het |
| Gabra5 |
A |
G |
7: 57,071,590 (GRCm39) |
S209P |
probably benign |
Het |
| Glce |
A |
T |
9: 61,977,815 (GRCm39) |
V23D |
probably damaging |
Het |
| Gm14226 |
GACTGTTAC |
GAC |
2: 154,866,851 (GRCm39) |
|
probably benign |
Het |
| Gtf2h1 |
A |
G |
7: 46,461,890 (GRCm39) |
N296S |
probably null |
Het |
| Herc6 |
T |
C |
6: 57,629,050 (GRCm39) |
S654P |
probably benign |
Het |
| Kcnk3 |
A |
T |
5: 30,779,321 (GRCm39) |
M124L |
possibly damaging |
Het |
| Lamb2 |
T |
G |
9: 108,359,127 (GRCm39) |
V281G |
probably damaging |
Het |
| Lctl |
A |
T |
9: 64,040,389 (GRCm39) |
D444V |
probably damaging |
Het |
| Mcm2 |
A |
G |
6: 88,861,026 (GRCm39) |
F891L |
probably damaging |
Het |
| Mcub |
A |
T |
3: 129,712,376 (GRCm39) |
H166Q |
probably benign |
Het |
| Mical2 |
G |
T |
7: 111,933,043 (GRCm39) |
R739L |
probably benign |
Het |
| Mideas |
T |
C |
12: 84,219,676 (GRCm39) |
E426G |
probably damaging |
Het |
| Mkrn2 |
G |
T |
6: 115,590,330 (GRCm39) |
A229S |
probably damaging |
Het |
| Mmp7 |
A |
G |
9: 7,695,278 (GRCm39) |
Y80C |
possibly damaging |
Het |
| Mpp2 |
T |
C |
11: 101,953,222 (GRCm39) |
|
probably null |
Het |
| Msh6 |
C |
A |
17: 88,293,150 (GRCm39) |
T635K |
possibly damaging |
Het |
| Mvd |
T |
A |
8: 123,163,286 (GRCm39) |
T315S |
probably benign |
Het |
| Myocd |
C |
T |
11: 65,109,347 (GRCm39) |
|
probably benign |
Het |
| Nav1 |
C |
T |
1: 135,386,127 (GRCm39) |
|
probably null |
Het |
| Or4k48 |
T |
A |
2: 111,476,214 (GRCm39) |
I43F |
probably damaging |
Het |
| Pde4b |
A |
T |
4: 102,344,548 (GRCm39) |
D141V |
probably damaging |
Het |
| Prss55 |
T |
C |
14: 64,313,129 (GRCm39) |
T252A |
probably damaging |
Het |
| Psd3 |
A |
T |
8: 68,573,491 (GRCm39) |
V230E |
probably damaging |
Het |
| Ptk2 |
A |
G |
15: 73,114,255 (GRCm39) |
V701A |
possibly damaging |
Het |
| Ptprn |
A |
G |
1: 75,238,694 (GRCm39) |
V82A |
probably damaging |
Het |
| Ptpru |
G |
T |
4: 131,520,989 (GRCm39) |
|
probably null |
Het |
| Raph1 |
T |
A |
1: 60,558,183 (GRCm39) |
K258* |
probably null |
Het |
| Rnf25 |
A |
G |
1: 74,637,886 (GRCm39) |
V28A |
probably damaging |
Het |
| Slc25a4 |
C |
T |
8: 46,661,540 (GRCm39) |
V212M |
probably benign |
Het |
| Slc39a3 |
T |
C |
10: 80,867,342 (GRCm39) |
S135G |
probably damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,356,097 (GRCm39) |
I220M |
probably damaging |
Het |
| Smim19 |
G |
T |
8: 22,963,544 (GRCm39) |
Y21* |
probably null |
Het |
| Speer4f1 |
A |
C |
5: 17,683,759 (GRCm39) |
Y141S |
probably damaging |
Het |
| Srgap2 |
G |
A |
1: 131,217,126 (GRCm39) |
P1062L |
probably benign |
Het |
| Stra8 |
A |
T |
6: 34,904,654 (GRCm39) |
|
probably benign |
Het |
| Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
| Tmem40 |
A |
G |
6: 115,715,960 (GRCm39) |
S76P |
probably benign |
Het |
| Unc13b |
C |
T |
4: 43,240,285 (GRCm39) |
R3569W |
probably damaging |
Het |
| Vmn1r128 |
A |
T |
7: 21,083,869 (GRCm39) |
Q191L |
probably benign |
Het |
| Washc2 |
T |
A |
6: 116,208,593 (GRCm39) |
|
probably benign |
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 |
|
R0299: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 |
|
|
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'- GTGCCTGGCTACTATGCTTGACTAC -3'
(R):5'- CTCTGGGAGACCTTCATCAGCAAC -3'
Sequencing Primer
(F):5'- ACTATGCTTGACTACCTGCC -3'
(R):5'- accttcatcagcaacgtcag -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation