Incidental Mutation 'R5033:Pdgfrb'
ID |
389416 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdgfrb
|
Ensembl Gene |
ENSMUSG00000024620 |
Gene Name |
platelet derived growth factor receptor, beta polypeptide |
Synonyms |
CD140b, Pdgfr |
MMRRC Submission |
042624-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5033 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
61178222-61218133 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 61210740 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Methionine
at position 749
(K749M)
|
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: K745M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025522 Gene: ENSMUSG00000024620 AA Change: K745M
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: K749M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110929 Gene: ENSMUSG00000024620 AA Change: K749M
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: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
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: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
9930111J21Rik1 |
G |
A |
11: 48,838,533 (GRCm39) |
R685W |
probably damaging |
Het |
Arhgap10 |
A |
T |
8: 78,109,386 (GRCm39) |
L399H |
probably damaging |
Het |
Arih2 |
AGCCG |
AG |
9: 108,488,859 (GRCm39) |
|
probably benign |
Het |
Atp13a2 |
A |
G |
4: 140,728,132 (GRCm39) |
H575R |
possibly damaging |
Het |
Bbof1 |
G |
A |
12: 84,458,044 (GRCm39) |
|
probably null |
Het |
Bltp3a |
A |
G |
17: 28,105,838 (GRCm39) |
E788G |
probably damaging |
Het |
Catsperg2 |
A |
C |
7: 29,409,559 (GRCm39) |
Y545D |
possibly damaging |
Het |
Cdc42bpa |
T |
A |
1: 179,892,580 (GRCm39) |
I248N |
probably damaging |
Het |
Cdk11b |
A |
T |
4: 155,733,282 (GRCm39) |
|
probably benign |
Het |
Cfap46 |
C |
A |
7: 139,183,776 (GRCm39) |
L90F |
probably benign |
Het |
Cndp2 |
A |
G |
18: 84,688,954 (GRCm39) |
L276P |
possibly damaging |
Het |
Col3a1 |
A |
C |
1: 45,385,270 (GRCm39) |
D129A |
probably damaging |
Het |
Daam1 |
C |
A |
12: 71,993,294 (GRCm39) |
H354Q |
unknown |
Het |
Dnah5 |
T |
A |
15: 28,421,824 (GRCm39) |
F3892Y |
probably damaging |
Het |
Dnajb3 |
A |
G |
1: 88,132,745 (GRCm39) |
V219A |
possibly damaging |
Het |
Drd5 |
A |
G |
5: 38,477,544 (GRCm39) |
H179R |
probably damaging |
Het |
Dym |
A |
G |
18: 75,252,232 (GRCm39) |
N333D |
possibly damaging |
Het |
Eif2b3 |
A |
G |
4: 116,909,933 (GRCm39) |
D156G |
probably damaging |
Het |
Emc1 |
A |
G |
4: 139,099,007 (GRCm39) |
D830G |
probably damaging |
Het |
F13a1 |
A |
C |
13: 37,172,830 (GRCm39) |
I183M |
probably damaging |
Het |
Fam136b-ps |
T |
A |
15: 31,277,043 (GRCm39) |
|
probably benign |
Het |
Fdft1 |
C |
A |
14: 63,400,853 (GRCm39) |
K93N |
probably damaging |
Het |
Garre1 |
C |
T |
7: 33,945,237 (GRCm39) |
G336S |
probably benign |
Het |
Gcc2 |
A |
G |
10: 58,114,628 (GRCm39) |
D959G |
probably damaging |
Het |
Gp2 |
A |
G |
7: 119,053,514 (GRCm39) |
V149A |
probably damaging |
Het |
Gpc1 |
G |
A |
1: 92,784,751 (GRCm39) |
G308D |
probably damaging |
Het |
Hdac9 |
A |
T |
12: 34,423,906 (GRCm39) |
C587S |
probably benign |
Het |
Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
Iars2 |
A |
G |
1: 185,050,125 (GRCm39) |
V453A |
possibly damaging |
Het |
Il1r1 |
T |
G |
1: 40,332,684 (GRCm39) |
C121W |
probably damaging |
Het |
Inhca |
A |
G |
9: 103,156,613 (GRCm39) |
V149A |
probably benign |
Het |
Jazf1 |
A |
G |
6: 52,754,525 (GRCm39) |
Y184H |
probably damaging |
Het |
Kel |
A |
T |
6: 41,675,989 (GRCm39) |
Y234N |
probably damaging |
Het |
Khk |
G |
A |
5: 31,087,004 (GRCm39) |
G186D |
probably damaging |
Het |
Klf4 |
A |
T |
4: 55,530,301 (GRCm39) |
M270K |
probably benign |
Het |
Kmt2c |
G |
A |
5: 25,519,706 (GRCm39) |
L2135F |
probably benign |
Het |
Krtap15-1 |
A |
G |
16: 88,626,044 (GRCm39) |
Y37C |
probably damaging |
Het |
Lars1 |
A |
G |
18: 42,347,841 (GRCm39) |
F994S |
possibly damaging |
Het |
Ldc1 |
C |
T |
4: 130,115,408 (GRCm39) |
|
probably null |
Het |
Lrp8 |
T |
C |
4: 107,691,952 (GRCm39) |
|
probably null |
Het |
Lrrc2 |
A |
T |
9: 110,809,987 (GRCm39) |
D341V |
probably damaging |
Het |
Map4k4 |
A |
G |
1: 40,046,662 (GRCm39) |
K646R |
probably damaging |
Het |
Mrps9 |
T |
A |
1: 42,934,491 (GRCm39) |
|
probably null |
Het |
Or10ag60 |
T |
A |
2: 87,438,055 (GRCm39) |
C108S |
probably damaging |
Het |
Or11h6 |
T |
A |
14: 50,880,619 (GRCm39) |
Y288N |
probably damaging |
Het |
Or8c20 |
C |
T |
9: 38,260,924 (GRCm39) |
H176Y |
probably damaging |
Het |
Pcnt |
A |
T |
10: 76,235,779 (GRCm39) |
C1401S |
possibly damaging |
Het |
Pigo |
A |
T |
4: 43,019,412 (GRCm39) |
W969R |
probably null |
Het |
Pigr |
A |
T |
1: 130,772,436 (GRCm39) |
Y218F |
probably damaging |
Het |
Pih1d1 |
A |
G |
7: 44,804,278 (GRCm39) |
|
probably benign |
Het |
Pik3cg |
A |
T |
12: 32,249,195 (GRCm39) |
|
probably null |
Het |
Pik3r6 |
A |
T |
11: 68,424,294 (GRCm39) |
K300* |
probably null |
Het |
Pip5k1c |
A |
G |
10: 81,141,084 (GRCm39) |
D64G |
probably damaging |
Het |
Piwil2 |
A |
T |
14: 70,659,042 (GRCm39) |
I161K |
possibly damaging |
Het |
Pou3f1 |
A |
G |
4: 124,552,449 (GRCm39) |
E317G |
probably damaging |
Het |
Prdm8 |
C |
T |
5: 98,333,071 (GRCm39) |
Q213* |
probably null |
Het |
Prpf6 |
T |
A |
2: 181,291,899 (GRCm39) |
C739S |
possibly damaging |
Het |
Psmc3 |
T |
A |
2: 90,884,953 (GRCm39) |
S40T |
probably benign |
Het |
Psmd3 |
A |
T |
11: 98,573,650 (GRCm39) |
D32V |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rapgef6 |
A |
T |
11: 54,582,207 (GRCm39) |
H1373L |
possibly damaging |
Het |
Rnf207 |
A |
C |
4: 152,397,666 (GRCm39) |
S328A |
probably benign |
Het |
Ros1 |
C |
T |
10: 52,004,512 (GRCm39) |
|
probably null |
Het |
Ryr2 |
T |
A |
13: 11,602,140 (GRCm39) |
I4581F |
possibly damaging |
Het |
Sacm1l |
C |
T |
9: 123,415,464 (GRCm39) |
R480W |
probably damaging |
Het |
Sec16a |
A |
G |
2: 26,309,661 (GRCm39) |
V664A |
probably benign |
Het |
Selenoo |
T |
A |
15: 88,976,969 (GRCm39) |
M207K |
probably damaging |
Het |
Sh3tc2 |
G |
A |
18: 62,147,962 (GRCm39) |
|
probably null |
Het |
Slc28a2b |
T |
A |
2: 122,353,395 (GRCm39) |
|
probably null |
Het |
Slco2b1 |
G |
T |
7: 99,309,256 (GRCm39) |
Q692K |
probably benign |
Het |
Slfn4 |
A |
T |
11: 83,077,623 (GRCm39) |
D137V |
probably damaging |
Het |
Srrm2 |
G |
A |
17: 24,039,592 (GRCm39) |
A2175T |
probably damaging |
Het |
Stard9 |
T |
A |
2: 120,523,880 (GRCm39) |
C692S |
probably benign |
Het |
Sulf2 |
T |
A |
2: 165,923,542 (GRCm39) |
D559V |
probably benign |
Het |
Tbpl2 |
T |
C |
2: 23,977,170 (GRCm39) |
I283V |
probably benign |
Het |
Tmem19 |
A |
G |
10: 115,195,666 (GRCm39) |
F46S |
probably benign |
Het |
Trp63 |
T |
A |
16: 25,582,056 (GRCm39) |
Y35N |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,716,786 (GRCm39) |
|
probably benign |
Het |
Ube2z |
A |
T |
11: 95,941,148 (GRCm39) |
H331Q |
probably benign |
Het |
Ubr1 |
C |
T |
2: 120,742,478 (GRCm39) |
|
probably null |
Het |
Vmn1r235 |
A |
T |
17: 21,482,550 (GRCm39) |
I292F |
possibly damaging |
Het |
Vmn2r1 |
T |
A |
3: 64,012,501 (GRCm39) |
D787E |
probably damaging |
Het |
Vmn2r3 |
A |
G |
3: 64,167,220 (GRCm39) |
V637A |
probably benign |
Het |
Xpnpep1 |
C |
A |
19: 52,994,606 (GRCm39) |
V341L |
probably benign |
Het |
Yme1l1 |
A |
G |
2: 23,084,759 (GRCm39) |
D619G |
probably damaging |
Het |
Zfp597 |
G |
A |
16: 3,684,502 (GRCm39) |
P85S |
probably damaging |
Het |
Zscan20 |
A |
G |
4: 128,479,921 (GRCm39) |
S857P |
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 |
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 |
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'- GCCACACAGGTTAGTTGAAGG -3'
(R):5'- AAGACATTGCTGTGCGTATTG -3'
Sequencing Primer
(F):5'- CAGTCATTCACACTGTATGGTGAC -3'
(R):5'- CTGTGCGTATTGGATGAGCC -3'
|
Posted On |
2016-06-06 |