Incidental Mutation 'R0629:Pdgfrb'
ID |
57789 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdgfrb
|
Ensembl Gene |
ENSMUSG00000024620 |
Gene Name |
platelet derived growth factor receptor, beta polypeptide |
Synonyms |
CD140b, Pdgfr |
MMRRC Submission |
038818-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0629 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
61178222-61218133 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 61211720 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110929
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025522]
[ENSMUST00000115274]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000025522
|
SMART Domains |
Protein: ENSMUSP00000025522 Gene: ENSMUSG00000024620
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 null
Transcript: ENSMUST00000115274
|
SMART Domains |
Protein: ENSMUSP00000110929 Gene: ENSMUSG00000024620
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 |
0.9491 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
Validation Efficiency |
100% (66/66) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
A |
T |
17: 45,818,473 (GRCm39) |
D86V |
probably damaging |
Het |
Adamts14 |
G |
A |
10: 61,047,403 (GRCm39) |
Q733* |
probably null |
Het |
Adcy10 |
A |
G |
1: 165,370,674 (GRCm39) |
D651G |
probably damaging |
Het |
Apcdd1 |
T |
A |
18: 63,067,041 (GRCm39) |
C52S |
probably damaging |
Het |
Bclaf1 |
T |
C |
10: 20,209,172 (GRCm39) |
S463P |
probably damaging |
Het |
Cabcoco1 |
T |
C |
10: 68,352,108 (GRCm39) |
Y68C |
probably damaging |
Het |
Cacna1f |
G |
A |
X: 7,486,673 (GRCm39) |
S888N |
probably damaging |
Het |
Cacna1g |
A |
G |
11: 94,300,369 (GRCm39) |
C2134R |
possibly damaging |
Het |
Cdc37 |
A |
C |
9: 21,052,064 (GRCm39) |
M325R |
possibly damaging |
Het |
Clca3a2 |
T |
A |
3: 144,778,000 (GRCm39) |
M762L |
probably benign |
Het |
Cntn3 |
C |
T |
6: 102,180,937 (GRCm39) |
V753M |
probably damaging |
Het |
Col6a6 |
A |
T |
9: 105,604,364 (GRCm39) |
|
probably benign |
Het |
Dscaml1 |
A |
G |
9: 45,632,716 (GRCm39) |
D1194G |
probably damaging |
Het |
Egfr |
G |
A |
11: 16,819,333 (GRCm39) |
G288S |
probably damaging |
Het |
Fbxl17 |
G |
T |
17: 63,778,409 (GRCm39) |
N19K |
probably damaging |
Het |
Fmo3 |
A |
G |
1: 162,785,796 (GRCm39) |
|
probably benign |
Het |
Frmd6 |
T |
C |
12: 70,930,536 (GRCm39) |
Y219H |
probably damaging |
Het |
Fuca1 |
T |
C |
4: 135,652,955 (GRCm39) |
V193A |
possibly damaging |
Het |
Gm7461 |
C |
T |
8: 4,727,769 (GRCm39) |
|
noncoding transcript |
Het |
Gpc5 |
T |
A |
14: 115,789,651 (GRCm39) |
N508K |
possibly damaging |
Het |
Iqch |
A |
T |
9: 63,332,664 (GRCm39) |
D1019E |
probably benign |
Het |
Isyna1 |
A |
G |
8: 71,047,358 (GRCm39) |
Y27C |
probably damaging |
Het |
Itgb8 |
T |
G |
12: 119,166,216 (GRCm39) |
H105P |
probably benign |
Het |
Kbtbd11 |
C |
T |
8: 15,077,572 (GRCm39) |
P57L |
probably benign |
Het |
Kcns3 |
A |
C |
12: 11,142,559 (GRCm39) |
C47G |
probably damaging |
Het |
Kif21b |
A |
T |
1: 136,099,895 (GRCm39) |
|
probably null |
Het |
Lama3 |
A |
T |
18: 12,552,302 (GRCm39) |
H418L |
possibly damaging |
Het |
Lrit3 |
A |
G |
3: 129,581,951 (GRCm39) |
Y679H |
probably damaging |
Het |
Lrrc19 |
T |
A |
4: 94,526,489 (GRCm39) |
D356V |
probably damaging |
Het |
Morc2b |
A |
G |
17: 33,354,781 (GRCm39) |
M997T |
probably benign |
Het |
Mroh9 |
T |
C |
1: 162,888,205 (GRCm39) |
H290R |
possibly damaging |
Het |
Mtcl1 |
A |
T |
17: 66,645,137 (GRCm39) |
S1886T |
possibly damaging |
Het |
Muc20 |
T |
C |
16: 32,613,791 (GRCm39) |
T529A |
possibly damaging |
Het |
Myo7a |
A |
C |
7: 97,734,673 (GRCm39) |
L607R |
probably damaging |
Het |
Myom2 |
T |
A |
8: 15,119,783 (GRCm39) |
F180I |
probably damaging |
Het |
Myt1l |
G |
A |
12: 29,861,484 (GRCm39) |
E89K |
unknown |
Het |
Nek2 |
A |
G |
1: 191,563,429 (GRCm39) |
N431S |
probably benign |
Het |
Oprm1 |
A |
T |
10: 6,782,604 (GRCm39) |
|
probably null |
Het |
Or2aj4 |
A |
T |
16: 19,384,730 (GRCm39) |
V301E |
possibly damaging |
Het |
Or5t7 |
T |
A |
2: 86,506,873 (GRCm39) |
H268L |
possibly damaging |
Het |
Oxsr1 |
A |
G |
9: 119,070,850 (GRCm39) |
|
probably benign |
Het |
Pasd1 |
G |
C |
X: 70,982,379 (GRCm39) |
R296P |
possibly damaging |
Het |
Proser1 |
C |
A |
3: 53,386,485 (GRCm39) |
P789Q |
probably benign |
Het |
Ptgs2 |
A |
G |
1: 149,976,788 (GRCm39) |
Q7R |
probably benign |
Het |
Rab3d |
A |
G |
9: 21,825,982 (GRCm39) |
V144A |
probably benign |
Het |
Ralgapb |
T |
A |
2: 158,281,467 (GRCm39) |
L167H |
probably damaging |
Het |
Ranbp3 |
A |
G |
17: 57,015,200 (GRCm39) |
T301A |
possibly damaging |
Het |
Rasgrf1 |
G |
A |
9: 89,866,322 (GRCm39) |
V587M |
probably damaging |
Het |
Sec16b |
A |
G |
1: 157,392,433 (GRCm39) |
|
probably benign |
Het |
Sin3b |
T |
C |
8: 73,480,164 (GRCm39) |
|
probably benign |
Het |
Slc10a2 |
T |
C |
8: 5,148,562 (GRCm39) |
S128G |
probably benign |
Het |
Tbl1xr1 |
G |
A |
3: 22,264,565 (GRCm39) |
V507I |
probably benign |
Het |
Tmem8b |
T |
G |
4: 43,669,896 (GRCm39) |
|
probably null |
Het |
Trak1 |
A |
T |
9: 121,196,233 (GRCm39) |
T22S |
probably benign |
Het |
Trim30d |
A |
G |
7: 104,136,862 (GRCm39) |
I114T |
probably damaging |
Het |
Ttc13 |
A |
T |
8: 125,401,105 (GRCm39) |
S624T |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,658,474 (GRCm39) |
|
probably benign |
Het |
Vipr1 |
T |
A |
9: 121,489,237 (GRCm39) |
Y99* |
probably null |
Het |
Vmn1r210 |
T |
C |
13: 23,012,044 (GRCm39) |
K81E |
probably damaging |
Het |
Wwc1 |
T |
C |
11: 35,744,299 (GRCm39) |
Y841C |
probably benign |
Het |
Xrcc4 |
A |
G |
13: 90,149,024 (GRCm39) |
|
probably benign |
Het |
Zdhhc22 |
A |
T |
12: 87,035,071 (GRCm39) |
I127N |
probably damaging |
Het |
Zdhhc7 |
A |
G |
8: 120,814,785 (GRCm39) |
L8P |
possibly damaging |
Het |
Zfp664 |
C |
A |
5: 124,962,659 (GRCm39) |
L18I |
probably 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 |
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'- AGCTTATGGTACACGCAAAGTAACCC -3'
(R):5'- CTCGGTGAACACACTGGATCAAGG -3'
Sequencing Primer
(F):5'- GTAACCCATAACCCTCTGCTC -3'
(R):5'- AAGACCCTCTGGGTCAGC -3'
|
Posted On |
2013-07-11 |