Incidental Mutation 'IGL01396:Pdgfrb'
ID |
79451 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pdgfrb
|
Ensembl Gene |
ENSMUSG00000024620 |
Gene Name |
platelet derived growth factor receptor, beta polypeptide |
Synonyms |
CD140b, Pdgfr |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01396
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
61178222-61218133 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 61205736 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 574
(E574G)
|
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: E570G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000025522 Gene: ENSMUSG00000024620 AA Change: E570G
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: E574G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110929 Gene: ENSMUSG00000024620 AA Change: E574G
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 |
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
T |
A |
5: 88,120,649 (GRCm39) |
Y469N |
probably benign |
Het |
Actl11 |
T |
C |
9: 107,805,964 (GRCm39) |
S96P |
possibly damaging |
Het |
Ankrd13b |
T |
A |
11: 77,363,198 (GRCm39) |
|
probably null |
Het |
Apobec4 |
T |
A |
1: 152,632,017 (GRCm39) |
I15K |
probably damaging |
Het |
Arhgef28 |
G |
T |
13: 98,090,401 (GRCm39) |
D1039E |
probably damaging |
Het |
Atp1a1 |
C |
T |
3: 101,498,769 (GRCm39) |
G175R |
probably damaging |
Het |
AU040320 |
T |
A |
4: 126,763,171 (GRCm39) |
|
probably benign |
Het |
Bcl9l |
G |
A |
9: 44,418,121 (GRCm39) |
R653H |
probably damaging |
Het |
Ccdc141 |
T |
A |
2: 76,958,669 (GRCm39) |
I144L |
possibly damaging |
Het |
Cdh20 |
C |
T |
1: 104,875,154 (GRCm39) |
T312I |
possibly damaging |
Het |
Cdh23 |
C |
T |
10: 60,220,848 (GRCm39) |
V1297I |
possibly damaging |
Het |
Cfap57 |
T |
C |
4: 118,467,792 (GRCm39) |
Y315C |
probably damaging |
Het |
Chd8 |
A |
G |
14: 52,442,044 (GRCm39) |
|
probably benign |
Het |
Cog5 |
A |
G |
12: 31,944,095 (GRCm39) |
D660G |
probably benign |
Het |
Cps1 |
T |
C |
1: 67,196,945 (GRCm39) |
I332T |
probably damaging |
Het |
Csgalnact2 |
T |
C |
6: 118,103,288 (GRCm39) |
T225A |
probably damaging |
Het |
Dchs1 |
A |
G |
7: 105,421,490 (GRCm39) |
L310P |
probably damaging |
Het |
Dgki |
T |
C |
6: 36,977,025 (GRCm39) |
N695S |
probably damaging |
Het |
Gas7 |
T |
A |
11: 67,543,740 (GRCm39) |
|
probably null |
Het |
Gm21286 |
T |
C |
4: 60,794,323 (GRCm39) |
|
noncoding transcript |
Het |
Gm4799 |
C |
T |
10: 82,790,518 (GRCm39) |
|
noncoding transcript |
Het |
Hdac4 |
T |
C |
1: 91,887,196 (GRCm39) |
|
probably benign |
Het |
Hif1a |
T |
A |
12: 73,987,307 (GRCm39) |
S467T |
probably benign |
Het |
Ier5 |
A |
G |
1: 154,974,296 (GRCm39) |
V294A |
probably damaging |
Het |
Ifna11 |
T |
C |
4: 88,738,314 (GRCm39) |
V40A |
probably benign |
Het |
Itga9 |
T |
C |
9: 118,436,191 (GRCm39) |
|
probably benign |
Het |
Lbx1 |
G |
T |
19: 45,222,670 (GRCm39) |
Q118K |
probably benign |
Het |
Lta |
A |
T |
17: 35,423,061 (GRCm39) |
|
probably null |
Het |
Matr3 |
A |
G |
18: 35,721,442 (GRCm39) |
Y471C |
probably damaging |
Het |
Nrg2 |
A |
T |
18: 36,178,905 (GRCm39) |
|
probably benign |
Het |
Or4c103 |
C |
T |
2: 88,513,575 (GRCm39) |
C167Y |
probably damaging |
Het |
Or4k51 |
T |
C |
2: 111,584,848 (GRCm39) |
F85L |
probably benign |
Het |
Or4k51 |
T |
A |
2: 111,584,948 (GRCm39) |
M118K |
probably damaging |
Het |
Or5l13 |
G |
T |
2: 87,780,207 (GRCm39) |
F123L |
probably damaging |
Het |
Patl1 |
A |
G |
19: 11,901,247 (GRCm39) |
K299R |
probably damaging |
Het |
Phf3 |
G |
A |
1: 30,843,386 (GRCm39) |
Q1858* |
probably null |
Het |
Prkca |
T |
C |
11: 107,905,148 (GRCm39) |
K197E |
possibly damaging |
Het |
Psmc6 |
C |
A |
14: 45,581,124 (GRCm39) |
Q307K |
probably benign |
Het |
Rasa1 |
T |
C |
13: 85,406,561 (GRCm39) |
I181V |
probably benign |
Het |
Scel |
A |
G |
14: 103,845,530 (GRCm39) |
|
probably benign |
Het |
Scn5a |
A |
T |
9: 119,363,770 (GRCm39) |
S457T |
probably damaging |
Het |
Sesn3 |
A |
G |
9: 14,232,374 (GRCm39) |
T216A |
probably benign |
Het |
Slc25a21 |
A |
G |
12: 57,205,974 (GRCm39) |
V19A |
probably benign |
Het |
Slc34a1 |
A |
G |
13: 55,550,546 (GRCm39) |
T81A |
probably damaging |
Het |
Slc35a5 |
A |
G |
16: 44,971,866 (GRCm39) |
Y117H |
probably damaging |
Het |
Sptbn4 |
A |
G |
7: 27,114,196 (GRCm39) |
V569A |
probably benign |
Het |
Sqle |
A |
G |
15: 59,195,723 (GRCm39) |
Y333C |
probably damaging |
Het |
Svep1 |
T |
C |
4: 58,068,552 (GRCm39) |
E3078G |
possibly damaging |
Het |
Tacc2 |
T |
A |
7: 130,360,919 (GRCm39) |
I2737N |
probably damaging |
Het |
Tet3 |
A |
T |
6: 83,346,620 (GRCm39) |
Y1272* |
probably null |
Het |
Tnr |
G |
T |
1: 159,724,594 (GRCm39) |
R1095L |
possibly damaging |
Het |
Vmn1r184 |
T |
C |
7: 25,966,862 (GRCm39) |
S203P |
probably damaging |
Het |
Vmn2r94 |
A |
G |
17: 18,477,301 (GRCm39) |
L370P |
probably damaging |
Het |
Xrcc5 |
A |
G |
1: 72,393,404 (GRCm39) |
H559R |
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 |
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 |
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 |
|
Posted On |
2013-11-05 |