Incidental Mutation 'R0570:Pdgfrb'
| ID |
46420 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdgfrb
|
| Ensembl Gene |
ENSMUSG00000024620 |
| Gene Name |
platelet derived growth factor receptor, beta polypeptide |
| Synonyms |
CD140b, Pdgfr |
| MMRRC Submission |
038761-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0570 (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 61210775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 761
(M761L)
|
| 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: M757L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000025522
Gene: ENSMUSG00000024620
AA Change: M757L
| 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: M761L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110929
Gene: ENSMUSG00000024620
AA Change: M761L
| 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 |
0.1107 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
100% (85/85) |
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067K01Rik |
C |
A |
8: 84,729,733 (GRCm39) |
|
probably benign |
Het |
| Aadacl3 |
C |
T |
4: 144,190,130 (GRCm39) |
W57* |
probably null |
Het |
| Abca2 |
G |
T |
2: 25,337,417 (GRCm39) |
|
probably null |
Het |
| Abca3 |
A |
G |
17: 24,593,373 (GRCm39) |
I257V |
probably benign |
Het |
| Adamts2 |
A |
G |
11: 50,666,963 (GRCm39) |
D420G |
probably damaging |
Het |
| Adamts5 |
A |
G |
16: 85,696,135 (GRCm39) |
F341L |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,991,062 (GRCm39) |
D4115E |
probably damaging |
Het |
| Arhgap20 |
T |
C |
9: 51,751,751 (GRCm39) |
S365P |
possibly damaging |
Het |
| Atrn |
G |
A |
2: 130,822,054 (GRCm39) |
V916I |
probably benign |
Het |
| Blmh |
T |
C |
11: 76,856,651 (GRCm39) |
V82A |
probably damaging |
Het |
| C1ra |
A |
T |
6: 124,490,664 (GRCm39) |
Y19F |
probably benign |
Het |
| Cactin |
A |
G |
10: 81,159,067 (GRCm39) |
E306G |
probably damaging |
Het |
| Celsr1 |
C |
T |
15: 85,787,566 (GRCm39) |
R2724Q |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,631,110 (GRCm39) |
E250G |
probably benign |
Het |
| Col17a1 |
A |
T |
19: 47,654,317 (GRCm39) |
S647T |
possibly damaging |
Het |
| Cope |
T |
A |
8: 70,759,181 (GRCm39) |
D74E |
probably damaging |
Het |
| Dsg1c |
T |
C |
18: 20,403,435 (GRCm39) |
I198T |
probably damaging |
Het |
| Elfn2 |
T |
C |
15: 78,557,434 (GRCm39) |
N371S |
probably damaging |
Het |
| Elmo2 |
G |
T |
2: 165,146,839 (GRCm39) |
A246D |
probably benign |
Het |
| Ewsr1 |
A |
T |
11: 5,035,935 (GRCm39) |
M187K |
possibly damaging |
Het |
| Faap100 |
A |
T |
11: 120,265,114 (GRCm39) |
S587R |
possibly damaging |
Het |
| Fam234b |
C |
T |
6: 135,186,247 (GRCm39) |
S85L |
probably benign |
Het |
| Fanca |
A |
T |
8: 124,033,169 (GRCm39) |
S292R |
probably benign |
Het |
| Fanci |
G |
A |
7: 79,093,711 (GRCm39) |
C1021Y |
probably damaging |
Het |
| Fhod3 |
T |
C |
18: 25,245,640 (GRCm39) |
I1230T |
probably benign |
Het |
| Fmo5 |
T |
C |
3: 97,536,456 (GRCm39) |
L27S |
probably damaging |
Het |
| Fmo9 |
A |
G |
1: 166,502,031 (GRCm39) |
V147A |
probably null |
Het |
| Fnbp4 |
A |
G |
2: 90,583,301 (GRCm39) |
Y309C |
probably damaging |
Het |
| Foxb1 |
T |
C |
9: 69,666,844 (GRCm39) |
T229A |
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,618,552 (GRCm39) |
Y274H |
probably damaging |
Het |
| Gbp8 |
T |
C |
5: 105,165,541 (GRCm39) |
|
probably null |
Het |
| Gcn1 |
T |
A |
5: 115,730,480 (GRCm39) |
L888Q |
probably damaging |
Het |
| Gm17490 |
T |
C |
2: 11,630,460 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird2 |
T |
A |
5: 134,237,785 (GRCm39) |
|
probably null |
Het |
| H2-Q1 |
A |
G |
17: 35,540,373 (GRCm39) |
T153A |
possibly damaging |
Het |
| Ina |
A |
C |
19: 47,011,938 (GRCm39) |
E452A |
probably benign |
Het |
| Kars1 |
A |
G |
8: 112,721,494 (GRCm39) |
|
probably null |
Het |
| Kif1c |
A |
G |
11: 70,595,291 (GRCm39) |
E124G |
probably damaging |
Het |
| Lpin3 |
T |
C |
2: 160,745,944 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,390,878 (GRCm39) |
C3006* |
probably null |
Het |
| Lyst |
T |
C |
13: 13,883,971 (GRCm39) |
L2953P |
probably benign |
Het |
| Mb21d2 |
G |
A |
16: 28,748,324 (GRCm39) |
A31V |
probably benign |
Het |
| Melk |
T |
C |
4: 44,308,906 (GRCm39) |
Y88H |
probably damaging |
Het |
| Myrf |
A |
G |
19: 10,189,161 (GRCm39) |
S857P |
probably damaging |
Het |
| Nos2 |
A |
G |
11: 78,826,187 (GRCm39) |
I153M |
possibly damaging |
Het |
| Or4n4 |
T |
G |
14: 50,519,370 (GRCm39) |
L113F |
probably benign |
Het |
| Otof |
A |
G |
5: 30,529,225 (GRCm39) |
|
probably benign |
Het |
| Patl2 |
A |
G |
2: 121,955,789 (GRCm39) |
V249A |
probably damaging |
Het |
| Pcgf5 |
A |
G |
19: 36,389,580 (GRCm39) |
Y19C |
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,247,941 (GRCm39) |
V951E |
probably damaging |
Het |
| Pcolce2 |
T |
C |
9: 95,520,710 (GRCm39) |
V29A |
probably benign |
Het |
| Pi16 |
A |
T |
17: 29,538,189 (GRCm39) |
M1L |
possibly damaging |
Het |
| Pkd2 |
T |
A |
5: 104,603,471 (GRCm39) |
|
probably benign |
Het |
| Plcb2 |
A |
G |
2: 118,547,806 (GRCm39) |
W474R |
probably benign |
Het |
| Psapl1 |
A |
G |
5: 36,361,624 (GRCm39) |
D72G |
possibly damaging |
Het |
| Ptpn5 |
T |
A |
7: 46,728,681 (GRCm39) |
|
probably benign |
Het |
| Ptprg |
A |
G |
14: 12,215,896 (GRCm38) |
E1115G |
probably damaging |
Het |
| Rassf1 |
C |
T |
9: 107,435,165 (GRCm39) |
T224I |
probably damaging |
Het |
| Rbpms2 |
T |
A |
9: 65,566,476 (GRCm39) |
C168* |
probably null |
Het |
| Rhag |
A |
G |
17: 41,139,804 (GRCm39) |
|
probably benign |
Het |
| Rhebl1 |
C |
T |
15: 98,779,034 (GRCm39) |
V17I |
probably benign |
Het |
| Rnf130 |
A |
T |
11: 49,986,703 (GRCm39) |
D349V |
possibly damaging |
Het |
| Rprd1a |
A |
G |
18: 24,642,952 (GRCm39) |
L60P |
probably damaging |
Het |
| Rspry1 |
T |
C |
8: 95,356,420 (GRCm39) |
I25T |
probably damaging |
Het |
| Ruvbl2 |
C |
T |
7: 45,071,621 (GRCm39) |
V421M |
probably damaging |
Het |
| Sap30 |
T |
C |
8: 57,936,000 (GRCm39) |
N209D |
possibly damaging |
Het |
| Sfswap |
T |
C |
5: 129,581,042 (GRCm39) |
|
probably benign |
Het |
| Slc1a2 |
G |
A |
2: 102,586,352 (GRCm39) |
V319M |
probably damaging |
Het |
| Smad2 |
T |
C |
18: 76,422,250 (GRCm39) |
|
probably benign |
Het |
| Spdya |
T |
C |
17: 71,869,585 (GRCm39) |
|
probably null |
Het |
| Stk39 |
G |
A |
2: 68,240,392 (GRCm39) |
T113M |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,626,382 (GRCm39) |
|
probably benign |
Het |
| Tas2r122 |
T |
C |
6: 132,688,774 (GRCm39) |
K40E |
probably damaging |
Het |
| Tph2 |
G |
T |
10: 115,010,039 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
G |
A |
1: 84,729,269 (GRCm39) |
S1083F |
probably damaging |
Het |
| Tsc2 |
A |
T |
17: 24,845,701 (GRCm39) |
C206S |
probably damaging |
Het |
| Tsc22d4 |
A |
G |
5: 137,760,681 (GRCm39) |
Q34R |
possibly damaging |
Het |
| Uroc1 |
G |
T |
6: 90,315,546 (GRCm39) |
M142I |
possibly damaging |
Het |
| Uso1 |
T |
C |
5: 92,347,682 (GRCm39) |
S766P |
probably benign |
Het |
| Usp21 |
G |
A |
1: 171,111,319 (GRCm39) |
|
probably benign |
Het |
| Usp48 |
T |
A |
4: 137,360,437 (GRCm39) |
I658K |
possibly damaging |
Het |
| Vmn1r206 |
T |
C |
13: 22,804,583 (GRCm39) |
H208R |
probably damaging |
Het |
| Vmn2r109 |
C |
T |
17: 20,760,937 (GRCm39) |
A807T |
probably damaging |
Het |
| Zfp329 |
A |
T |
7: 12,544,379 (GRCm39) |
C382S |
probably damaging |
Het |
| Zfp341 |
A |
G |
2: 154,487,988 (GRCm39) |
E817G |
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 |
|
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'- CAGGGCCACACAGGTTAGTTGAAG -3'
(R):5'- TCCCAGGGTTGCTCCAAGACTATG -3'
Sequencing Primer
(F):5'- GGTTCACAGTCATTCACACTGTATG -3'
(R):5'- ATGGTACATTAAGGACTTTGAAAGG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation