Incidental Mutation 'R9106:Pdgfrb'
| ID |
692050 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdgfrb
|
| Ensembl Gene |
ENSMUSG00000024620 |
| Gene Name |
platelet derived growth factor receptor, beta polypeptide |
| Synonyms |
CD140b, Pdgfr |
| MMRRC Submission |
068970-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9106 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
61178222-61218133 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 61179100 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 benign
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (63/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
C |
A |
1: 179,614,601 (GRCm39) |
K394N |
probably benign |
Het |
| Banp |
A |
T |
8: 122,705,372 (GRCm39) |
T81S |
possibly damaging |
Het |
| Btn2a2 |
T |
C |
13: 23,662,465 (GRCm39) |
E495G |
probably benign |
Het |
| Cfap69 |
T |
C |
5: 5,690,190 (GRCm39) |
I158M |
possibly damaging |
Het |
| Cgnl1 |
C |
A |
9: 71,628,873 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
T |
A |
5: 123,753,223 (GRCm39) |
Q186L |
probably damaging |
Het |
| Clspn |
G |
A |
4: 126,471,243 (GRCm39) |
|
probably benign |
Het |
| Cnst |
A |
G |
1: 179,432,162 (GRCm39) |
E224G |
probably damaging |
Het |
| Ctdsp1 |
T |
C |
1: 74,433,884 (GRCm39) |
L155P |
probably damaging |
Het |
| D5Ertd579e |
C |
T |
5: 36,773,682 (GRCm39) |
A238T |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,121,752 (GRCm39) |
Y1410C |
probably damaging |
Het |
| Fam186a |
AGCCGCTGCCGCTGCCGCTGCCGC |
AGCCGCTGCCGCTGCCGC |
15: 99,844,107 (GRCm39) |
|
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,488,910 (GRCm39) |
|
probably null |
Het |
| Galnt7 |
T |
G |
8: 57,985,729 (GRCm39) |
D547A |
probably damaging |
Het |
| Gm1527 |
C |
A |
3: 28,956,440 (GRCm39) |
D135E |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,723,747 (GRCm39) |
I679T |
probably damaging |
Het |
| Hectd4 |
C |
A |
5: 121,467,619 (GRCm39) |
R2523S |
possibly damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Htr1f |
A |
T |
16: 64,746,637 (GRCm39) |
S218R |
probably damaging |
Het |
| Lrit1 |
G |
A |
14: 36,776,891 (GRCm39) |
A4T |
unknown |
Het |
| Ly6f |
G |
T |
15: 75,141,706 (GRCm39) |
D50Y |
probably damaging |
Het |
| Mafg |
GGTTCTTCAGTGT |
GGT |
11: 120,520,415 (GRCm39) |
|
probably null |
Het |
| Map2 |
T |
A |
1: 66,454,522 (GRCm39) |
Y1137* |
probably null |
Het |
| Map4k3 |
C |
A |
17: 81,035,257 (GRCm39) |
R21L |
possibly damaging |
Het |
| Mapk10 |
A |
T |
5: 103,186,442 (GRCm39) |
V90D |
probably damaging |
Het |
| Mapkapk3 |
T |
A |
9: 107,136,067 (GRCm39) |
E219V |
probably damaging |
Het |
| Mideas |
T |
C |
12: 84,199,327 (GRCm39) |
Y1040C |
probably damaging |
Het |
| Mos |
T |
G |
4: 3,871,457 (GRCm39) |
I120L |
probably benign |
Het |
| Mrgprb4 |
A |
G |
7: 47,848,679 (GRCm39) |
V83A |
probably benign |
Het |
| Mrnip |
A |
G |
11: 50,065,768 (GRCm39) |
Q19R |
probably damaging |
Het |
| Myrip |
T |
C |
9: 120,261,544 (GRCm39) |
S386P |
probably benign |
Het |
| Mzt2 |
A |
G |
16: 15,666,568 (GRCm39) |
W141R |
probably benign |
Het |
| Ncam1 |
A |
G |
9: 49,428,856 (GRCm39) |
Y710H |
probably damaging |
Het |
| Nlrp9c |
G |
T |
7: 26,081,837 (GRCm39) |
L630I |
probably benign |
Het |
| Odad2 |
A |
T |
18: 7,294,527 (GRCm39) |
S29T |
probably benign |
Het |
| Oplah |
C |
A |
15: 76,189,876 (GRCm39) |
G150C |
probably benign |
Het |
| Or4c11b |
A |
G |
2: 88,625,016 (GRCm39) |
T97A |
probably benign |
Het |
| Or51q1 |
A |
T |
7: 103,628,581 (GRCm39) |
M61L |
probably damaging |
Het |
| Or52a20 |
G |
A |
7: 103,366,737 (GRCm39) |
C312Y |
probably benign |
Het |
| Or6k2 |
A |
G |
1: 173,986,369 (GRCm39) |
Q10R |
probably benign |
Het |
| Patl1 |
A |
G |
19: 11,908,973 (GRCm39) |
K460R |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,680,757 (GRCm39) |
I17V |
probably benign |
Het |
| Ppp3r1 |
A |
G |
11: 17,144,789 (GRCm39) |
D134G |
probably damaging |
Het |
| Ppp4r4 |
C |
T |
12: 103,570,315 (GRCm39) |
T763I |
probably benign |
Het |
| Prmt9 |
A |
G |
8: 78,276,358 (GRCm39) |
D61G |
probably benign |
Het |
| Ptk2 |
T |
C |
15: 73,131,457 (GRCm39) |
M589V |
possibly damaging |
Het |
| Rabl6 |
A |
G |
2: 25,486,446 (GRCm39) |
W153R |
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,319,109 (GRCm39) |
I843V |
|
Het |
| Resf1 |
T |
C |
6: 149,230,368 (GRCm39) |
V1138A |
possibly damaging |
Het |
| Rnf19b |
A |
G |
4: 128,977,940 (GRCm39) |
E719G |
|
Het |
| Sart3 |
T |
C |
5: 113,892,410 (GRCm39) |
D363G |
possibly damaging |
Het |
| Sgo2a |
C |
A |
1: 58,037,283 (GRCm39) |
D9E |
possibly damaging |
Het |
| Slc27a5 |
A |
G |
7: 12,725,097 (GRCm39) |
V450A |
probably benign |
Het |
| Slc8b1 |
T |
A |
5: 120,668,416 (GRCm39) |
Y483N |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,617,974 (GRCm39) |
T475A |
probably damaging |
Het |
| Slfn3 |
T |
C |
11: 83,103,458 (GRCm39) |
F110L |
probably benign |
Het |
| Spata31e5 |
T |
C |
1: 28,815,975 (GRCm39) |
I686V |
probably benign |
Het |
| Ssr2 |
T |
A |
3: 88,495,269 (GRCm39) |
Y175N |
probably damaging |
Het |
| Tagap |
A |
T |
17: 8,150,280 (GRCm39) |
N222Y |
probably damaging |
Het |
| Tecta |
C |
T |
9: 42,278,479 (GRCm39) |
V1010M |
probably benign |
Het |
| Trim36 |
A |
T |
18: 46,300,664 (GRCm39) |
I669N |
possibly damaging |
Het |
| Ubp1 |
A |
G |
9: 113,799,319 (GRCm39) |
T425A |
probably benign |
Het |
| Usp47 |
T |
C |
7: 111,681,713 (GRCm39) |
I508T |
probably damaging |
Het |
| Vit |
G |
A |
17: 78,934,278 (GRCm39) |
D627N |
probably damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,884 (GRCm39) |
I176N |
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 |
|
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'- TTGAACAGGACCTCCAAGGC -3'
(R):5'- CTGTGACAGAAGGAAACCAGCTAC -3'
Sequencing Primer
(F):5'- CCAAGGCACAGCAAAGTCTGTG -3'
(R):5'- GCTACAATCCCTCCTCACAGAG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation