Incidental Mutation 'R0650:Pdgfrb'
ID |
62242 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdgfrb
|
Ensembl Gene |
ENSMUSG00000024620 |
Gene Name |
platelet derived growth factor receptor, beta polypeptide |
Synonyms |
CD140b, Pdgfr |
MMRRC Submission |
038835-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0650 (G1)
|
Quality Score |
85 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
61178222-61218133 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 61212780 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 895
(I895V)
|
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: I891V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000025522 Gene: ENSMUSG00000024620 AA Change: I891V
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: I895V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000110929 Gene: ENSMUSG00000024620 AA Change: I895V
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 |
0.0608 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
Validation Efficiency |
99% (77/78) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020N15Rik |
A |
G |
X: 68,989,391 (GRCm39) |
S96G |
unknown |
Het |
4930447C04Rik |
T |
C |
12: 72,956,830 (GRCm39) |
D120G |
probably damaging |
Het |
Actmap |
A |
T |
7: 26,902,072 (GRCm39) |
H233L |
probably damaging |
Het |
Adgrg5 |
T |
A |
8: 95,660,785 (GRCm39) |
|
probably null |
Het |
Afg3l2 |
G |
T |
18: 67,548,627 (GRCm39) |
H534Q |
possibly damaging |
Het |
Ankar |
G |
A |
1: 72,695,380 (GRCm39) |
|
probably benign |
Het |
Arid2 |
T |
A |
15: 96,299,930 (GRCm39) |
F1814L |
possibly damaging |
Het |
Asb15 |
C |
T |
6: 24,566,163 (GRCm39) |
A372V |
probably damaging |
Het |
Atg16l1 |
A |
T |
1: 87,709,421 (GRCm39) |
D403V |
possibly damaging |
Het |
Bnc2 |
T |
C |
4: 84,211,433 (GRCm39) |
D407G |
probably benign |
Het |
Ccdc121 |
T |
C |
5: 31,643,312 (GRCm39) |
|
probably benign |
Het |
Cdan1 |
A |
G |
2: 120,556,526 (GRCm39) |
V633A |
probably benign |
Het |
Cfap46 |
T |
C |
7: 139,185,571 (GRCm39) |
Y2482C |
unknown |
Het |
Chd8 |
T |
C |
14: 52,439,761 (GRCm39) |
E964G |
probably benign |
Het |
Cyp2s1 |
A |
G |
7: 25,508,683 (GRCm39) |
V253A |
probably damaging |
Het |
Depdc1b |
A |
G |
13: 108,460,443 (GRCm39) |
N18D |
probably damaging |
Het |
Fis1 |
T |
A |
5: 136,991,048 (GRCm39) |
V4E |
probably damaging |
Het |
Gba2 |
T |
A |
4: 43,570,424 (GRCm39) |
|
probably null |
Het |
Gm2381 |
C |
T |
7: 42,469,504 (GRCm39) |
G207R |
probably damaging |
Het |
Gpr89 |
T |
A |
3: 96,804,640 (GRCm39) |
|
probably benign |
Het |
Gtf2i |
A |
G |
5: 134,290,691 (GRCm39) |
|
probably benign |
Het |
Herc2 |
T |
G |
7: 55,762,958 (GRCm39) |
S896A |
probably damaging |
Het |
Huwe1 |
T |
C |
X: 150,659,309 (GRCm39) |
S921P |
probably damaging |
Het |
Iqgap1 |
T |
A |
7: 80,386,143 (GRCm39) |
K936I |
probably damaging |
Het |
Kcna4 |
T |
A |
2: 107,125,927 (GRCm39) |
Y220* |
probably null |
Het |
Krt18 |
A |
G |
15: 101,937,920 (GRCm39) |
D139G |
possibly damaging |
Het |
Krt87 |
T |
C |
15: 101,384,921 (GRCm39) |
N392D |
probably damaging |
Het |
L3mbtl4 |
G |
A |
17: 69,081,286 (GRCm39) |
C558Y |
probably damaging |
Het |
Lamc2 |
T |
A |
1: 153,019,622 (GRCm39) |
I440F |
possibly damaging |
Het |
Lrrc28 |
T |
C |
7: 67,267,833 (GRCm39) |
N98S |
probably damaging |
Het |
Lrrk1 |
G |
A |
7: 65,942,084 (GRCm39) |
A718V |
probably damaging |
Het |
Mrgprx2 |
T |
C |
7: 48,132,666 (GRCm39) |
I51V |
probably damaging |
Het |
Myt1 |
A |
T |
2: 181,424,408 (GRCm39) |
R25* |
probably null |
Het |
Npdc1 |
C |
T |
2: 25,298,021 (GRCm39) |
T199I |
probably benign |
Het |
Nup98 |
T |
A |
7: 101,801,660 (GRCm39) |
Y755F |
probably damaging |
Het |
Or51q1c |
A |
G |
7: 103,652,446 (GRCm39) |
|
probably null |
Het |
Or5p69 |
T |
A |
7: 107,966,996 (GRCm39) |
C100S |
probably damaging |
Het |
Or5p76 |
G |
T |
7: 108,122,289 (GRCm39) |
N289K |
probably damaging |
Het |
Or8g22 |
T |
A |
9: 38,957,996 (GRCm39) |
M240L |
probably benign |
Het |
Osgin1 |
A |
T |
8: 120,172,211 (GRCm39) |
Y335F |
probably damaging |
Het |
Pde10a |
A |
T |
17: 9,161,797 (GRCm39) |
I493F |
probably damaging |
Het |
Peg10 |
T |
TCCCCANNANNNN |
6: 4,756,475 (GRCm39) |
|
probably benign |
Het |
Pidd1 |
A |
T |
7: 141,020,726 (GRCm39) |
L457* |
probably null |
Het |
Pik3c2a |
A |
G |
7: 115,945,482 (GRCm39) |
|
probably benign |
Het |
Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
Plcg1 |
C |
T |
2: 160,595,283 (GRCm39) |
|
probably benign |
Het |
Prr13 |
A |
C |
15: 102,370,650 (GRCm39) |
*138C |
probably null |
Het |
Prrc2b |
T |
C |
2: 32,119,267 (GRCm39) |
|
probably benign |
Het |
Psph |
T |
C |
5: 129,868,633 (GRCm39) |
|
probably benign |
Het |
Ripor1 |
A |
G |
8: 106,344,746 (GRCm39) |
|
probably benign |
Het |
Scg3 |
A |
G |
9: 75,576,617 (GRCm39) |
S253P |
probably damaging |
Het |
Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
Sgk1 |
A |
G |
10: 21,758,556 (GRCm39) |
N7D |
probably damaging |
Het |
Skor2 |
T |
C |
18: 76,964,255 (GRCm39) |
F940L |
probably benign |
Het |
Slbp |
T |
C |
5: 33,802,833 (GRCm39) |
|
probably benign |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Susd5 |
A |
T |
9: 113,911,603 (GRCm39) |
H171L |
possibly damaging |
Het |
Sybu |
T |
C |
15: 44,536,664 (GRCm39) |
E354G |
probably benign |
Het |
Synpo |
T |
C |
18: 60,735,412 (GRCm39) |
N845D |
possibly damaging |
Het |
Tdrd6 |
A |
T |
17: 43,939,050 (GRCm39) |
I666N |
probably damaging |
Het |
Tm9sf4 |
T |
C |
2: 153,029,285 (GRCm39) |
I111T |
probably benign |
Het |
Tnc |
T |
C |
4: 63,926,971 (GRCm39) |
T852A |
probably benign |
Het |
Tnfrsf10b |
T |
A |
14: 70,013,625 (GRCm39) |
I185K |
probably damaging |
Het |
Tnks1bp1 |
A |
G |
2: 84,892,974 (GRCm39) |
E305G |
possibly damaging |
Het |
Tnrc6b |
T |
C |
15: 80,668,959 (GRCm39) |
V22A |
probably benign |
Het |
Ttn |
A |
T |
2: 76,598,956 (GRCm39) |
F19319Y |
probably damaging |
Het |
Ubr5 |
T |
C |
15: 38,031,051 (GRCm39) |
|
probably benign |
Het |
Ugt2b5 |
T |
A |
5: 87,287,627 (GRCm39) |
Q191L |
probably benign |
Het |
Urod |
T |
C |
4: 116,848,473 (GRCm39) |
T300A |
probably benign |
Het |
Vmn1r213 |
A |
G |
13: 23,195,564 (GRCm39) |
|
probably benign |
Het |
Znfx1 |
G |
A |
2: 166,889,574 (GRCm39) |
Q723* |
probably null |
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 |
|
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'- GCTGAATCAGGACCAGCTACAGTG -3'
(R):5'- TGTCTGAGCATCTGTCCCACAGTC -3'
Sequencing Primer
(F):5'- CTACCAGGTCTCTAGACAGTGAG -3'
(R):5'- tctgtcccacagtcctctac -3'
|
Posted On |
2013-07-30 |