Incidental Mutation 'R9452:Pdgfrb'
| ID |
714364 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdgfrb
|
| Ensembl Gene |
ENSMUSG00000024620 |
| Gene Name |
platelet derived growth factor receptor, beta polypeptide |
| Synonyms |
CD140b, Pdgfr |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9452 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
61178222-61218133 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 61198798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 319
(V319M)
|
| 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: V315M
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000025522
Gene: ENSMUSG00000024620
AA Change: V315M
| 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: V319M
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000110929
Gene: ENSMUSG00000024620
AA Change: V319M
| 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 |
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
A |
G |
5: 24,612,382 (GRCm39) |
Y564C |
probably null |
Het |
| Ablim2 |
A |
T |
5: 36,015,198 (GRCm39) |
D470V |
probably benign |
Het |
| Actr10 |
T |
C |
12: 71,006,818 (GRCm39) |
|
probably null |
Het |
| Adam4 |
T |
A |
12: 81,467,071 (GRCm39) |
I517L |
probably benign |
Het |
| Ank1 |
C |
A |
8: 23,622,429 (GRCm39) |
D1659E |
probably benign |
Het |
| Arnt2 |
A |
G |
7: 83,933,334 (GRCm39) |
V308A |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,706,726 (GRCm39) |
V184A |
probably damaging |
Het |
| Bag1 |
A |
T |
4: 40,947,733 (GRCm39) |
I157N |
probably benign |
Het |
| Bicc1 |
A |
T |
10: 70,792,981 (GRCm39) |
D224E |
probably damaging |
Het |
| C2 |
T |
G |
17: 35,095,319 (GRCm39) |
I209L |
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,289,720 (GRCm39) |
|
probably null |
Het |
| Capn1 |
T |
C |
19: 6,057,287 (GRCm39) |
Y387C |
probably damaging |
Het |
| Cebpa |
A |
G |
7: 34,819,033 (GRCm39) |
I64V |
possibly damaging |
Het |
| Celf4 |
T |
G |
18: 25,624,219 (GRCm39) |
M436L |
probably benign |
Het |
| Cfb |
C |
A |
17: 35,078,084 (GRCm39) |
V436L |
probably benign |
Het |
| Ciart |
C |
T |
3: 95,788,527 (GRCm39) |
C104Y |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,232,394 (GRCm39) |
L898P |
probably benign |
Het |
| Cyp2c68 |
A |
T |
19: 39,687,833 (GRCm39) |
M388K |
possibly damaging |
Het |
| Cypt12 |
T |
C |
3: 18,002,843 (GRCm39) |
V72A |
probably benign |
Het |
| Dlec1 |
A |
G |
9: 118,941,541 (GRCm39) |
D309G |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,018,448 (GRCm39) |
V1394A |
probably benign |
Het |
| Dpp3 |
A |
C |
19: 4,973,750 (GRCm39) |
S108A |
probably benign |
Het |
| Eif5b |
C |
T |
1: 38,084,861 (GRCm39) |
P903S |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,733,690 (GRCm39) |
D580G |
probably damaging |
Het |
| Fam98c |
A |
G |
7: 28,852,901 (GRCm39) |
V44A |
probably benign |
Het |
| Fer |
A |
G |
17: 64,231,067 (GRCm39) |
K273E |
probably benign |
Het |
| Gzme |
T |
A |
14: 56,355,854 (GRCm39) |
I153F |
probably benign |
Het |
| Ice1 |
A |
T |
13: 70,744,462 (GRCm39) |
N2040K |
probably damaging |
Het |
| Ifi214 |
G |
T |
1: 173,356,894 (GRCm39) |
Q70K |
possibly damaging |
Het |
| Itpripl1 |
C |
A |
2: 126,983,334 (GRCm39) |
E263* |
probably null |
Het |
| Kat8 |
A |
G |
7: 127,524,421 (GRCm39) |
K433R |
probably benign |
Het |
| Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
| Lefty1 |
A |
T |
1: 180,762,849 (GRCm39) |
T59S |
probably benign |
Het |
| Lig3 |
C |
T |
11: 82,681,448 (GRCm39) |
T481M |
probably damaging |
Het |
| Lrfn1 |
A |
T |
7: 28,159,157 (GRCm39) |
I359F |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,850,726 (GRCm39) |
C90* |
probably null |
Het |
| Micall2 |
T |
G |
5: 139,703,311 (GRCm39) |
|
probably null |
Het |
| Mtmr3 |
G |
T |
11: 4,441,037 (GRCm39) |
L539I |
probably damaging |
Het |
| Obscn |
C |
A |
11: 58,924,962 (GRCm39) |
|
probably null |
Het |
| Olfml3 |
T |
C |
3: 103,643,575 (GRCm39) |
T269A |
probably benign |
Het |
| Oprl1 |
C |
T |
2: 181,360,454 (GRCm39) |
A170V |
possibly damaging |
Het |
| Or4c112 |
C |
T |
2: 88,854,234 (GRCm39) |
G38R |
|
Het |
| Pirb |
G |
A |
7: 3,720,617 (GRCm39) |
R294C |
possibly damaging |
Het |
| Piwil1 |
T |
C |
5: 128,824,957 (GRCm39) |
S552P |
probably benign |
Het |
| Pkd2 |
T |
C |
5: 104,614,841 (GRCm39) |
F228L |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,682,953 (GRCm39) |
D83V |
possibly damaging |
Het |
| Plcl1 |
A |
G |
1: 55,734,992 (GRCm39) |
D111G |
probably damaging |
Het |
| Plpp2 |
A |
G |
10: 79,363,702 (GRCm39) |
S162P |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,256,151 (GRCm39) |
I1174K |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,485,465 (GRCm39) |
Y431N |
possibly damaging |
Het |
| Pter |
A |
G |
2: 12,985,111 (GRCm39) |
D147G |
probably benign |
Het |
| Rbsn |
T |
C |
6: 92,178,745 (GRCm39) |
D134G |
possibly damaging |
Het |
| Rnf220 |
T |
C |
4: 117,153,339 (GRCm39) |
D299G |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,133 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
G |
A |
2: 65,595,163 (GRCm39) |
S2004N |
probably benign |
Het |
| Slc7a4 |
T |
A |
16: 17,391,271 (GRCm39) |
N593I |
probably damaging |
Het |
| Spata31e3 |
T |
C |
13: 50,400,808 (GRCm39) |
H506R |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,399,152 (GRCm39) |
S2200P |
probably benign |
Het |
| Thoc2l |
T |
A |
5: 104,669,610 (GRCm39) |
N1377K |
probably benign |
Het |
| Tle1 |
A |
T |
4: 72,040,596 (GRCm39) |
H654Q |
probably benign |
Het |
| Ttll6 |
G |
A |
11: 96,026,588 (GRCm39) |
R124H |
probably damaging |
Het |
| Vmn2r111 |
A |
G |
17: 22,778,132 (GRCm39) |
C516R |
probably damaging |
Het |
| Vmn2r89 |
T |
C |
14: 51,693,288 (GRCm39) |
S213P |
probably damaging |
Het |
| Vmn2r-ps158 |
A |
T |
7: 42,697,257 (GRCm39) |
L771F |
possibly damaging |
Het |
| Washc4 |
A |
G |
10: 83,396,387 (GRCm39) |
N399S |
probably benign |
Het |
| Wdr37 |
G |
A |
13: 8,897,663 (GRCm39) |
H198Y |
|
Het |
| Zfp407 |
A |
G |
18: 84,580,579 (GRCm39) |
L178P |
probably benign |
Het |
| Zfp882 |
C |
T |
8: 72,668,831 (GRCm39) |
H553Y |
probably damaging |
Het |
| Zfp956 |
T |
C |
6: 47,940,370 (GRCm39) |
V243A |
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 |
|
|
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 |
|
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'- TTGCCTAAAGAAACCGTGCC -3'
(R):5'- TGAAGCTTCCAACATAAGTGGAC -3'
Sequencing Primer
(F):5'- GAAACCGTGCCCTAGTTTTTAGAAGC -3'
(R):5'- CATAAGTGGACTAACTGGTGCTCAC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation