Incidental Mutation 'R8737:Pdgfrb'
| ID |
663120 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdgfrb
|
| Ensembl Gene |
ENSMUSG00000024620 |
| Gene Name |
platelet derived growth factor receptor, beta polypeptide |
| Synonyms |
CD140b, Pdgfr |
| MMRRC Submission |
068584-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8737 (G1)
|
| Quality Score |
216.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
61178222-61218133 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 61214073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 953
(P953S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025522]
[ENSMUST00000115274]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025522
AA Change: P949S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025522
Gene: ENSMUSG00000024620
AA Change: P949S
| 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 damaging
Transcript: ENSMUST00000115274
AA Change: P953S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110929
Gene: ENSMUSG00000024620
AA Change: P953S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (67/67) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
T |
A |
1: 38,308,810 (GRCm39) |
D375V |
probably damaging |
Het |
| Agfg1 |
C |
G |
1: 82,871,243 (GRCm39) |
P492A |
probably benign |
Het |
| Asb13 |
T |
C |
13: 3,692,089 (GRCm39) |
V23A |
probably damaging |
Het |
| Atxn1l |
A |
T |
8: 110,460,230 (GRCm39) |
C11S |
probably damaging |
Het |
| Bbs9 |
T |
G |
9: 22,590,244 (GRCm39) |
S661A |
probably benign |
Het |
| Btrc |
T |
C |
19: 45,496,198 (GRCm39) |
V211A |
probably damaging |
Het |
| Camk1g |
T |
C |
1: 193,030,794 (GRCm39) |
|
probably null |
Het |
| Capn11 |
A |
T |
17: 45,943,801 (GRCm39) |
L578I |
probably benign |
Het |
| Cd82 |
A |
T |
2: 93,252,239 (GRCm39) |
I124N |
probably damaging |
Het |
| Cdkl4 |
G |
T |
17: 80,858,258 (GRCm39) |
H120Q |
probably benign |
Het |
| Cftr |
T |
C |
6: 18,319,728 (GRCm39) |
V1393A |
probably damaging |
Het |
| Col14a1 |
A |
T |
15: 55,318,706 (GRCm39) |
R1402* |
probably null |
Het |
| Col6a3 |
T |
G |
1: 90,727,747 (GRCm39) |
Y1960S |
probably benign |
Het |
| Col9a1 |
A |
T |
1: 24,224,127 (GRCm39) |
Y103F |
unknown |
Het |
| Cux1 |
A |
G |
5: 136,311,796 (GRCm39) |
V1180A |
probably damaging |
Het |
| Cyp17a1 |
A |
T |
19: 46,658,166 (GRCm39) |
C249S |
probably benign |
Het |
| Derl1 |
A |
T |
15: 57,755,568 (GRCm39) |
W42R |
probably benign |
Het |
| Dhx36 |
C |
A |
3: 62,386,747 (GRCm39) |
M668I |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,044,428 (GRCm39) |
K3228E |
possibly damaging |
Het |
| Dst |
C |
T |
1: 34,267,750 (GRCm39) |
A3050V |
probably benign |
Het |
| Efr3b |
A |
G |
12: 4,049,594 (GRCm39) |
Y70H |
probably damaging |
Het |
| Epb42 |
T |
A |
2: 120,856,324 (GRCm39) |
T407S |
possibly damaging |
Het |
| Fads2b |
T |
A |
2: 85,324,387 (GRCm39) |
|
probably benign |
Het |
| Fap |
T |
A |
2: 62,342,777 (GRCm39) |
I608L |
probably benign |
Het |
| Fblim1 |
A |
G |
4: 141,310,387 (GRCm39) |
Y292H |
probably benign |
Het |
| Fmod |
A |
G |
1: 133,968,043 (GRCm39) |
I28V |
probably benign |
Het |
| Gad2 |
T |
A |
2: 22,524,985 (GRCm39) |
Y256* |
probably null |
Het |
| Gapdh |
G |
A |
6: 125,139,017 (GRCm39) |
A353V |
probably benign |
Het |
| Gm5460 |
T |
G |
14: 33,739,149 (GRCm39) |
W44G |
unknown |
Het |
| Ino80e |
A |
T |
7: 126,460,974 (GRCm39) |
V91D |
probably benign |
Het |
| Iqgap2 |
G |
A |
13: 95,802,258 (GRCm39) |
P896S |
probably damaging |
Het |
| Kif26b |
T |
A |
1: 178,692,430 (GRCm39) |
I457N |
probably damaging |
Het |
| Klc2 |
T |
A |
19: 5,168,477 (GRCm39) |
|
probably benign |
Het |
| Ldlrap1 |
C |
A |
4: 134,495,147 (GRCm39) |
W22L |
probably benign |
Het |
| Matn3 |
A |
G |
12: 9,017,665 (GRCm39) |
D439G |
possibly damaging |
Het |
| Met |
T |
C |
6: 17,540,510 (GRCm39) |
L812P |
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,315,504 (GRCm39) |
I90N |
probably damaging |
Het |
| Mptx2 |
A |
C |
1: 173,105,256 (GRCm39) |
S12A |
probably benign |
Het |
| Mrgpra9 |
G |
T |
7: 46,885,624 (GRCm39) |
N14K |
probably benign |
Het |
| Nbeal2 |
G |
A |
9: 110,456,949 (GRCm39) |
R2350C |
probably damaging |
Het |
| Nsmaf |
A |
G |
4: 6,396,748 (GRCm39) |
I913T |
probably benign |
Het |
| Nuggc |
G |
T |
14: 65,882,535 (GRCm39) |
C760F |
probably benign |
Het |
| Or10a3m |
T |
A |
7: 108,312,964 (GRCm39) |
F135I |
probably damaging |
Het |
| Or1j13 |
T |
A |
2: 36,369,629 (GRCm39) |
N171I |
probably benign |
Het |
| Or2y1f |
T |
A |
11: 49,184,965 (GRCm39) |
F272L |
probably damaging |
Het |
| Or4c110 |
C |
A |
2: 88,832,351 (GRCm39) |
E94* |
probably null |
Het |
| Or51b6 |
A |
G |
7: 103,555,913 (GRCm39) |
N86S |
|
Het |
| Pemt |
T |
G |
11: 59,874,285 (GRCm39) |
I102L |
probably benign |
Het |
| Pla2g4c |
G |
T |
7: 13,069,154 (GRCm39) |
M109I |
probably benign |
Het |
| Pla2g4d |
T |
A |
2: 120,100,466 (GRCm39) |
Y622F |
probably damaging |
Het |
| Pmpca |
T |
A |
2: 26,283,531 (GRCm39) |
V400D |
probably damaging |
Het |
| Pnpt1 |
G |
C |
11: 29,104,815 (GRCm39) |
|
probably null |
Het |
| Pramel29 |
A |
C |
4: 143,935,192 (GRCm39) |
L183R |
probably damaging |
Het |
| Prrc1 |
T |
A |
18: 57,496,408 (GRCm39) |
S120T |
possibly damaging |
Het |
| Prrx2 |
T |
G |
2: 30,768,578 (GRCm39) |
V135G |
probably damaging |
Het |
| Qrfprl |
A |
G |
6: 65,433,260 (GRCm39) |
K360R |
probably benign |
Het |
| Recql4 |
T |
C |
15: 76,593,054 (GRCm39) |
N352S |
probably benign |
Het |
| Sftpa1 |
T |
C |
14: 40,856,044 (GRCm39) |
S130P |
probably damaging |
Het |
| Slc35e2 |
T |
C |
4: 155,695,042 (GRCm39) |
L136P |
probably benign |
Het |
| Tarbp2 |
T |
A |
15: 102,430,202 (GRCm39) |
S155T |
probably benign |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tmem116 |
A |
T |
5: 121,620,433 (GRCm39) |
Y146F |
|
Het |
| Ttc17 |
C |
T |
2: 94,206,374 (GRCm39) |
|
probably null |
Het |
| Vmn2r114 |
G |
A |
17: 23,529,142 (GRCm39) |
T320I |
probably benign |
Het |
| Vmn2r69 |
A |
T |
7: 85,055,783 (GRCm39) |
V785D |
probably damaging |
Het |
| Vmn2r89 |
T |
A |
14: 51,693,722 (GRCm39) |
N357K |
probably damaging |
Het |
| Zfp811 |
A |
T |
17: 33,017,197 (GRCm39) |
L281Q |
possibly 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 |
|
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 |
|
|
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 |
|
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'- TAGGATAAACAAGGCGTCGG -3'
(R):5'- GGACAGATCAATCAGCTTCCA -3'
Sequencing Primer
(F):5'- TAAACAAGGCGTCGGGAGCTC -3'
(R):5'- ATAAGTAGTTCTGGCTCAACCC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation