Incidental Mutation 'R7017:Pdgfrb'
ID |
545419 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdgfrb
|
Ensembl Gene |
ENSMUSG00000024620 |
Gene Name |
platelet derived growth factor receptor, beta polypeptide |
Synonyms |
CD140b, Pdgfr |
MMRRC Submission |
045118-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7017 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
61178222-61218133 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 61214076 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 954
(P954S)
|
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: P950S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000025522 Gene: ENSMUSG00000024620 AA Change: P950S
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: P954S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000110929 Gene: ENSMUSG00000024620 AA Change: P954S
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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
100% (75/75) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410137M14Rik |
A |
G |
17: 37,288,926 (GRCm39) |
|
probably benign |
Het |
Acot3 |
A |
T |
12: 84,100,077 (GRCm39) |
|
probably benign |
Het |
Add3 |
T |
A |
19: 53,222,284 (GRCm39) |
V297E |
possibly damaging |
Het |
Arfgap1 |
C |
G |
2: 180,618,097 (GRCm39) |
|
probably null |
Het |
Cacna1i |
T |
C |
15: 80,264,671 (GRCm39) |
F1500L |
probably damaging |
Het |
Cacna1s |
T |
C |
1: 136,023,596 (GRCm39) |
I945T |
probably damaging |
Het |
Ccdc180 |
T |
A |
4: 45,940,934 (GRCm39) |
N1334K |
possibly damaging |
Het |
Cd5l |
C |
A |
3: 87,273,368 (GRCm39) |
Y112* |
probably null |
Het |
Cracd |
GAGGCAGCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GAGACAACGCGAGGCCGAGAGGCAGG |
5: 77,004,795 (GRCm39) |
|
probably benign |
Het |
Cyp2d40 |
A |
T |
15: 82,644,234 (GRCm39) |
F297Y |
unknown |
Het |
Ddx4 |
C |
T |
13: 112,738,022 (GRCm39) |
V546I |
probably damaging |
Het |
Dgkg |
T |
C |
16: 22,391,463 (GRCm39) |
M332V |
probably benign |
Het |
Dnah12 |
T |
C |
14: 26,456,835 (GRCm39) |
I867T |
probably benign |
Het |
Dnah2 |
T |
A |
11: 69,382,373 (GRCm39) |
K1246* |
probably null |
Het |
Drd2 |
G |
A |
9: 49,312,129 (GRCm39) |
V161I |
probably benign |
Het |
Dsp |
A |
G |
13: 38,370,683 (GRCm39) |
D862G |
probably benign |
Het |
Ephx4 |
T |
C |
5: 107,553,980 (GRCm39) |
F10S |
probably damaging |
Het |
Fabp9 |
C |
A |
3: 10,259,756 (GRCm39) |
A76S |
possibly damaging |
Het |
Fat4 |
G |
A |
3: 38,945,692 (GRCm39) |
M1528I |
probably benign |
Het |
Fbxl12 |
A |
G |
9: 20,529,616 (GRCm39) |
S84P |
unknown |
Het |
Fbxo40 |
T |
C |
16: 36,790,732 (GRCm39) |
D126G |
probably damaging |
Het |
Fpr1 |
C |
T |
17: 18,097,654 (GRCm39) |
V112I |
probably benign |
Het |
Frem2 |
T |
C |
3: 53,427,023 (GRCm39) |
N2975S |
probably benign |
Het |
Gask1a |
T |
C |
9: 121,795,052 (GRCm39) |
|
probably null |
Het |
Gm7945 |
T |
C |
14: 41,105,610 (GRCm39) |
Y156C |
|
Het |
Gnpat |
T |
C |
8: 125,590,014 (GRCm39) |
V13A |
probably benign |
Het |
Gpx5 |
G |
A |
13: 21,475,561 (GRCm39) |
P55L |
probably damaging |
Het |
Hbp1 |
A |
G |
12: 31,993,852 (GRCm39) |
S59P |
probably damaging |
Het |
Ighv1-36 |
T |
A |
12: 114,843,533 (GRCm39) |
D109V |
probably damaging |
Het |
Iqcf5 |
T |
A |
9: 106,392,863 (GRCm39) |
I40N |
possibly damaging |
Het |
Kcnma1 |
T |
G |
14: 23,544,711 (GRCm39) |
I484L |
possibly damaging |
Het |
Kera |
A |
T |
10: 97,444,939 (GRCm39) |
R99S |
possibly damaging |
Het |
Kif3b |
T |
A |
2: 153,171,644 (GRCm39) |
S707R |
possibly damaging |
Het |
Lilra6 |
G |
T |
7: 3,911,707 (GRCm39) |
T317N |
possibly damaging |
Het |
Lrrc15 |
C |
T |
16: 30,091,780 (GRCm39) |
E520K |
probably benign |
Het |
Lrrc34 |
C |
T |
3: 30,699,465 (GRCm39) |
|
probably null |
Het |
Lvrn |
A |
G |
18: 46,983,745 (GRCm39) |
T163A |
probably benign |
Het |
Met |
T |
A |
6: 17,491,286 (GRCm39) |
L16* |
probably null |
Het |
Mpzl2 |
G |
T |
9: 44,958,587 (GRCm39) |
D108Y |
probably benign |
Het |
Mrgprb2 |
T |
A |
7: 48,202,585 (GRCm39) |
I47F |
probably benign |
Het |
Muc5ac |
G |
C |
7: 141,363,424 (GRCm39) |
|
probably benign |
Het |
Mybphl |
T |
A |
3: 108,282,154 (GRCm39) |
V128E |
probably damaging |
Het |
Nckap5 |
A |
T |
1: 126,030,398 (GRCm39) |
D231E |
probably damaging |
Het |
Or5g23 |
T |
A |
2: 85,438,673 (GRCm39) |
M194L |
probably benign |
Het |
Orm1 |
T |
A |
4: 63,263,448 (GRCm39) |
I87K |
probably benign |
Het |
Pdzd8 |
G |
T |
19: 59,333,784 (GRCm39) |
S79* |
probably null |
Het |
Pdzd9 |
T |
A |
7: 120,262,225 (GRCm39) |
H79L |
probably benign |
Het |
Plcg1 |
A |
T |
2: 160,600,017 (GRCm39) |
I926F |
probably damaging |
Het |
Plec |
A |
T |
15: 76,057,741 (GRCm39) |
F4078L |
probably damaging |
Het |
Plek |
G |
A |
11: 17,002,220 (GRCm39) |
|
probably benign |
Het |
Pogz |
T |
C |
3: 94,761,335 (GRCm39) |
I25T |
probably damaging |
Het |
Ppfia3 |
A |
T |
7: 45,008,224 (GRCm39) |
D215E |
probably benign |
Het |
Psg22 |
C |
A |
7: 18,458,366 (GRCm39) |
S352R |
probably benign |
Het |
Ptchd4 |
A |
G |
17: 42,813,626 (GRCm39) |
Y509C |
probably damaging |
Het |
Ralgapb |
C |
A |
2: 158,290,257 (GRCm39) |
N389K |
probably benign |
Het |
Rdh1 |
A |
G |
10: 127,598,906 (GRCm39) |
D129G |
probably benign |
Het |
Rimbp3 |
A |
G |
16: 17,027,610 (GRCm39) |
T345A |
probably benign |
Het |
S100a14 |
T |
C |
3: 90,434,602 (GRCm39) |
|
probably null |
Het |
Scamp1 |
T |
A |
13: 94,361,423 (GRCm39) |
R152S |
probably damaging |
Het |
Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
Srf |
T |
C |
17: 46,861,830 (GRCm39) |
T383A |
probably benign |
Het |
St6galnac5 |
T |
C |
3: 152,552,040 (GRCm39) |
M176V |
probably damaging |
Het |
St8sia1 |
C |
A |
6: 142,813,632 (GRCm39) |
V177F |
probably damaging |
Het |
Syt12 |
C |
T |
19: 4,510,895 (GRCm39) |
|
probably null |
Het |
Tanc2 |
A |
G |
11: 105,813,934 (GRCm39) |
I1793V |
probably benign |
Het |
Tas2r123 |
A |
G |
6: 132,824,513 (GRCm39) |
I137V |
probably benign |
Het |
Tenm2 |
T |
A |
11: 36,062,236 (GRCm39) |
Y543F |
probably damaging |
Het |
Tent5b |
T |
C |
4: 133,213,545 (GRCm39) |
S139P |
possibly damaging |
Het |
Tgfbr1 |
T |
C |
4: 47,410,728 (GRCm39) |
I488T |
probably damaging |
Het |
Tgm1 |
T |
A |
14: 55,942,398 (GRCm39) |
Y651F |
possibly damaging |
Het |
Thbs3 |
A |
T |
3: 89,131,722 (GRCm39) |
D698V |
probably damaging |
Het |
Tpra1 |
T |
A |
6: 88,885,294 (GRCm39) |
I82N |
probably damaging |
Het |
Ubr4 |
T |
A |
4: 139,120,401 (GRCm39) |
D275E |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Wwp1 |
T |
C |
4: 19,623,124 (GRCm39) |
Y787C |
probably damaging |
Het |
Znfx1 |
T |
C |
2: 166,890,454 (GRCm39) |
S677G |
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 |
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 |
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'- TCCCAAGAGATCAGTAAGAAGC -3'
(R):5'- ACCCTTTCTAGCACCAGCAG -3'
Sequencing Primer
(F):5'- CAATGATAGGATAAACAAGGCGTC -3'
(R):5'- TTTCTAGCACCAGCAGAGAAAC -3'
|
Posted On |
2019-05-13 |