Incidental Mutation 'R9380:Pdgfrb'
| ID |
709981 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdgfrb
|
| Ensembl Gene |
ENSMUSG00000024620 |
| Gene Name |
platelet derived growth factor receptor, beta polypeptide |
| Synonyms |
CD140b, Pdgfr |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9380 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
61178222-61218133 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 61197920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 231
(G231D)
|
| 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: G227D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025522
Gene: ENSMUSG00000024620
AA Change: G227D
| 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: G231D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110929
Gene: ENSMUSG00000024620
AA Change: G231D
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (79/79) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
T |
G |
1: 78,659,602 (GRCm39) |
C85G |
possibly damaging |
Het |
| Alox12e |
A |
T |
11: 70,206,994 (GRCm39) |
|
probably null |
Het |
| Aoc1l2 |
T |
C |
6: 48,910,064 (GRCm39) |
I667T |
probably damaging |
Het |
| Asb10 |
A |
C |
5: 24,739,103 (GRCm39) |
|
probably null |
Het |
| B3galt9 |
G |
A |
2: 34,729,029 (GRCm39) |
C276Y |
probably damaging |
Het |
| Bcl2a1d |
G |
A |
9: 88,613,935 (GRCm39) |
|
probably benign |
Het |
| Camsap3 |
A |
T |
8: 3,653,999 (GRCm39) |
K556N |
probably benign |
Het |
| Cd300lf |
T |
A |
11: 115,015,153 (GRCm39) |
T146S |
probably benign |
Het |
| Chuk |
C |
A |
19: 44,062,958 (GRCm39) |
A744S |
unknown |
Het |
| Clint1 |
A |
T |
11: 45,742,988 (GRCm39) |
M4L |
probably benign |
Het |
| Cnot4 |
T |
C |
6: 35,029,865 (GRCm39) |
I344M |
possibly damaging |
Het |
| Cpne1 |
T |
C |
2: 155,920,721 (GRCm39) |
D135G |
probably benign |
Het |
| Csgalnact2 |
C |
A |
6: 118,105,840 (GRCm39) |
L159F |
probably damaging |
Het |
| Dnai2 |
T |
C |
11: 114,635,989 (GRCm39) |
F325L |
probably benign |
Het |
| Dnal4 |
G |
A |
15: 79,647,790 (GRCm39) |
S25L |
possibly damaging |
Het |
| Ep300 |
T |
C |
15: 81,500,245 (GRCm39) |
M515T |
unknown |
Het |
| Ewsr1 |
T |
C |
11: 5,043,730 (GRCm39) |
Y18C |
possibly damaging |
Het |
| Fam25a |
T |
C |
14: 34,073,957 (GRCm39) |
T72A |
possibly damaging |
Het |
| Flii |
T |
C |
11: 60,606,297 (GRCm39) |
Y1131C |
probably benign |
Het |
| Foxj1 |
C |
T |
11: 116,222,547 (GRCm39) |
A419T |
possibly damaging |
Het |
| Fsd1l |
A |
G |
4: 53,693,991 (GRCm39) |
T323A |
possibly damaging |
Het |
| Furin |
T |
C |
7: 80,041,506 (GRCm39) |
I551V |
probably benign |
Het |
| Gbp11 |
A |
G |
5: 105,475,202 (GRCm39) |
V382A |
probably benign |
Het |
| Gfod1 |
A |
C |
13: 43,354,320 (GRCm39) |
D218E |
probably damaging |
Het |
| Glp2r |
A |
T |
11: 67,637,572 (GRCm39) |
I153N |
possibly damaging |
Het |
| Gm11214 |
G |
T |
4: 63,580,850 (GRCm39) |
P100T |
possibly damaging |
Het |
| Gne |
A |
T |
4: 44,066,807 (GRCm39) |
F69I |
probably benign |
Het |
| Hsd3b2 |
T |
C |
3: 98,619,453 (GRCm39) |
K164R |
probably damaging |
Het |
| Hspa1b |
T |
C |
17: 35,177,170 (GRCm39) |
R272G |
probably damaging |
Het |
| Hydin |
C |
A |
8: 111,290,504 (GRCm39) |
T3321N |
probably benign |
Het |
| Impg1 |
A |
T |
9: 80,289,077 (GRCm39) |
S327T |
probably benign |
Het |
| Izumo2 |
T |
C |
7: 44,364,812 (GRCm39) |
V159A |
probably benign |
Het |
| Kat6b |
T |
C |
14: 21,678,926 (GRCm39) |
S430P |
probably damaging |
Het |
| Kcnj9 |
T |
A |
1: 172,153,447 (GRCm39) |
T226S |
probably benign |
Het |
| Kl |
T |
A |
5: 150,912,342 (GRCm39) |
M697K |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lrrk1 |
G |
A |
7: 65,928,331 (GRCm39) |
P1266S |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,177,598 (GRCm39) |
N1499K |
probably benign |
Het |
| Mybbp1a |
A |
G |
11: 72,333,668 (GRCm39) |
I182V |
probably benign |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nin |
A |
G |
12: 70,074,805 (GRCm39) |
L1859P |
|
Het |
| Nlrp4e |
C |
G |
7: 23,020,755 (GRCm39) |
A414G |
probably benign |
Het |
| Or2y10 |
A |
G |
11: 49,454,904 (GRCm39) |
D52G |
possibly damaging |
Het |
| Or4a67 |
A |
T |
2: 88,598,530 (GRCm39) |
I43N |
probably damaging |
Het |
| Or4k1 |
C |
A |
14: 50,377,770 (GRCm39) |
G109W |
probably damaging |
Het |
| Or8b50 |
A |
G |
9: 38,518,415 (GRCm39) |
Y218C |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,108,980 (GRCm39) |
S421T |
probably damaging |
Het |
| Paqr7 |
A |
G |
4: 134,234,350 (GRCm39) |
N69S |
probably damaging |
Het |
| Pcare |
A |
T |
17: 72,056,351 (GRCm39) |
S1109T |
possibly damaging |
Het |
| Pip5k1b |
A |
G |
19: 24,356,417 (GRCm39) |
Y174H |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,769,262 (GRCm39) |
L9Q |
unknown |
Het |
| Psmg4 |
A |
T |
13: 34,350,080 (GRCm39) |
T71S |
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,221,581 (GRCm39) |
I173T |
possibly damaging |
Het |
| Qser1 |
G |
A |
2: 104,619,691 (GRCm39) |
Q284* |
probably null |
Het |
| Rcc2 |
G |
T |
4: 140,429,702 (GRCm39) |
A79S |
probably benign |
Het |
| Rgl3 |
G |
T |
9: 21,888,123 (GRCm39) |
Q464K |
probably damaging |
Het |
| Rhov |
C |
A |
2: 119,100,604 (GRCm39) |
R211L |
probably benign |
Het |
| Rp1l1 |
A |
G |
14: 64,266,475 (GRCm39) |
D687G |
probably benign |
Het |
| Selenbp2 |
A |
G |
3: 94,609,654 (GRCm39) |
I291V |
probably benign |
Het |
| Sh3glb2 |
A |
T |
2: 30,238,625 (GRCm39) |
V189E |
probably damaging |
Het |
| Slc46a2 |
A |
G |
4: 59,913,867 (GRCm39) |
I352T |
probably damaging |
Het |
| Sucla2 |
T |
A |
14: 73,828,312 (GRCm39) |
N306K |
probably benign |
Het |
| Suco |
A |
G |
1: 161,646,074 (GRCm39) |
V1209A |
possibly damaging |
Het |
| Tacc2 |
T |
A |
7: 130,226,771 (GRCm39) |
L1152Q |
possibly damaging |
Het |
| Tanc1 |
A |
T |
2: 59,665,796 (GRCm39) |
K1185M |
probably damaging |
Het |
| Tas2r114 |
A |
G |
6: 131,666,381 (GRCm39) |
F216L |
probably benign |
Het |
| Tead1 |
A |
T |
7: 112,441,105 (GRCm39) |
H78L |
possibly damaging |
Het |
| Tex12 |
T |
C |
9: 50,469,586 (GRCm39) |
I64V |
possibly damaging |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Trank1 |
A |
G |
9: 111,221,738 (GRCm39) |
E2825G |
probably benign |
Het |
| Trappc13 |
T |
A |
13: 104,280,707 (GRCm39) |
Y399F |
probably damaging |
Het |
| Trim21 |
T |
C |
7: 102,212,992 (GRCm39) |
D102G |
probably damaging |
Het |
| Trim27 |
G |
T |
13: 21,364,680 (GRCm39) |
V6L |
probably benign |
Het |
| Trim55 |
A |
G |
3: 19,728,559 (GRCm39) |
T457A |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,769,981 (GRCm39) |
E2716G |
probably benign |
Het |
| Usp10 |
T |
G |
8: 120,682,943 (GRCm39) |
L712R |
probably damaging |
Het |
| Vldlr |
T |
A |
19: 27,216,192 (GRCm39) |
C338S |
possibly damaging |
Het |
| Zfp946 |
A |
G |
17: 22,673,680 (GRCm39) |
I145V |
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 |
|
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 |
|
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'- ACTGATATAGACTCAGTGCATGAAG -3'
(R):5'- CGTTGCAAGTATAGGTGCCC -3'
Sequencing Primer
(F):5'- GCATGAAGTTTTTACAATAGCCGACG -3'
(R):5'- CTCCAAAGAGGTAGTCTGTCACTG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation