Incidental Mutation 'R4598:Pdgfrb'
| ID |
345396 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdgfrb
|
| Ensembl Gene |
ENSMUSG00000024620 |
| Gene Name |
platelet derived growth factor receptor, beta polypeptide |
| Synonyms |
CD140b, Pdgfr |
| MMRRC Submission |
041814-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4598 (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 61201829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 464
(K464N)
|
| 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: K460N
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000025522
Gene: ENSMUSG00000024620
AA Change: K460N
| 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: K464N
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000110929
Gene: ENSMUSG00000024620
AA Change: K464N
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
G |
A |
1: 11,818,188 (GRCm39) |
|
probably null |
Het |
| Abca14 |
T |
C |
7: 119,854,626 (GRCm39) |
V930A |
probably benign |
Het |
| Abcb7 |
A |
C |
X: 103,366,988 (GRCm39) |
D135E |
probably benign |
Het |
| Ace |
T |
A |
11: 105,872,585 (GRCm39) |
|
probably null |
Het |
| Acnat1 |
T |
C |
4: 49,450,781 (GRCm39) |
D110G |
probably benign |
Het |
| Ak9 |
C |
T |
10: 41,259,907 (GRCm39) |
P862S |
probably damaging |
Het |
| Atp1a3 |
A |
G |
7: 24,678,766 (GRCm39) |
S972P |
probably damaging |
Het |
| Bmf |
C |
A |
2: 118,379,609 (GRCm39) |
A56S |
probably benign |
Het |
| C6 |
T |
C |
15: 4,792,852 (GRCm39) |
L319P |
possibly damaging |
Het |
| Cab39 |
A |
G |
1: 85,776,050 (GRCm39) |
Y249C |
probably damaging |
Het |
| Cdc14b |
T |
C |
13: 64,395,088 (GRCm39) |
T69A |
probably benign |
Het |
| Cep162 |
A |
G |
9: 87,085,848 (GRCm39) |
Y1159H |
possibly damaging |
Het |
| Chrna7 |
A |
G |
7: 62,753,538 (GRCm39) |
M327T |
probably damaging |
Het |
| Clca3a2 |
A |
T |
3: 144,511,444 (GRCm39) |
N41K |
probably damaging |
Het |
| Clock |
T |
C |
5: 76,383,657 (GRCm39) |
M499V |
probably benign |
Het |
| Col5a3 |
A |
G |
9: 20,685,855 (GRCm39) |
|
probably null |
Het |
| Coq6 |
T |
C |
12: 84,408,913 (GRCm39) |
V30A |
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,327,227 (GRCm39) |
I473V |
probably benign |
Het |
| D430041D05Rik |
A |
T |
2: 104,038,528 (GRCm39) |
V1547D |
probably damaging |
Het |
| Dhx9 |
TCC |
TC |
1: 153,342,797 (GRCm39) |
|
probably null |
Het |
| Dock2 |
T |
A |
11: 34,189,536 (GRCm39) |
Y1545F |
probably damaging |
Het |
| Eif4e3 |
T |
A |
6: 99,617,671 (GRCm39) |
I67L |
probably benign |
Het |
| Epor |
A |
G |
9: 21,873,155 (GRCm39) |
S86P |
probably benign |
Het |
| Esp31 |
T |
A |
17: 38,952,012 (GRCm39) |
|
probably null |
Het |
| Esrp2 |
A |
G |
8: 106,859,343 (GRCm39) |
M498T |
probably damaging |
Het |
| F5 |
T |
C |
1: 164,032,366 (GRCm39) |
I1771T |
probably benign |
Het |
| Fancd2 |
C |
A |
6: 113,562,438 (GRCm39) |
H1259Q |
probably benign |
Het |
| Gale |
C |
A |
4: 135,695,148 (GRCm39) |
S341* |
probably null |
Het |
| Ints12 |
T |
A |
3: 132,804,214 (GRCm39) |
I67N |
probably benign |
Het |
| Kat2b |
A |
G |
17: 53,977,826 (GRCm39) |
Y791C |
probably benign |
Het |
| Kazn |
A |
G |
4: 141,937,403 (GRCm39) |
V108A |
possibly damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,853,228 (GRCm39) |
T109A |
probably damaging |
Het |
| Med13 |
T |
C |
11: 86,169,392 (GRCm39) |
T1955A |
probably damaging |
Het |
| Megf10 |
G |
A |
18: 57,322,675 (GRCm39) |
|
probably null |
Het |
| Megf10 |
A |
T |
18: 57,420,884 (GRCm39) |
S841C |
probably damaging |
Het |
| Mep1a |
A |
G |
17: 43,802,469 (GRCm39) |
|
probably null |
Het |
| Mrap2 |
A |
T |
9: 87,064,842 (GRCm39) |
E194D |
probably damaging |
Het |
| Msh2 |
A |
G |
17: 88,016,006 (GRCm39) |
K546R |
probably damaging |
Het |
| Ndc80 |
T |
C |
17: 71,828,063 (GRCm39) |
D88G |
probably damaging |
Het |
| Nrip1 |
A |
G |
16: 76,089,968 (GRCm39) |
F530L |
probably damaging |
Het |
| Or2y10 |
T |
C |
11: 49,455,545 (GRCm39) |
S266P |
probably damaging |
Het |
| Or52e7 |
A |
C |
7: 104,685,280 (GRCm39) |
I292L |
probably benign |
Het |
| Or6c216 |
T |
C |
10: 129,678,864 (GRCm39) |
T16A |
possibly damaging |
Het |
| Or9i16 |
A |
T |
19: 13,865,381 (GRCm39) |
H64Q |
probably damaging |
Het |
| Oxtr |
C |
T |
6: 112,466,713 (GRCm39) |
G16R |
probably benign |
Het |
| Pja2 |
A |
T |
17: 64,620,025 (GRCm39) |
M1K |
probably null |
Het |
| Pkhd1 |
A |
T |
1: 20,573,280 (GRCm39) |
N1875K |
probably damaging |
Het |
| Pogz |
T |
C |
3: 94,787,491 (GRCm39) |
S1360P |
possibly damaging |
Het |
| Proc |
A |
T |
18: 32,256,512 (GRCm39) |
L385Q |
probably damaging |
Het |
| Ptprm |
A |
G |
17: 67,402,492 (GRCm39) |
I132T |
probably benign |
Het |
| Rpgr |
A |
G |
X: 10,062,255 (GRCm39) |
S343P |
probably benign |
Het |
| Rsu1 |
T |
C |
2: 13,174,815 (GRCm39) |
Y225C |
probably damaging |
Het |
| Scyl1 |
A |
G |
19: 5,820,481 (GRCm39) |
S118P |
probably damaging |
Het |
| Sec61a1 |
T |
C |
6: 88,483,131 (GRCm39) |
N414D |
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Sema7a |
A |
G |
9: 57,860,834 (GRCm39) |
D65G |
probably benign |
Het |
| Slc25a45 |
A |
G |
19: 5,934,464 (GRCm39) |
Y144C |
probably damaging |
Het |
| Slc26a6 |
A |
G |
9: 108,733,579 (GRCm39) |
Y103C |
probably damaging |
Het |
| Stat3 |
C |
T |
11: 100,794,500 (GRCm39) |
D270N |
probably damaging |
Het |
| Taar8b |
T |
C |
10: 23,967,736 (GRCm39) |
S153G |
probably benign |
Het |
| Top1 |
A |
G |
2: 160,562,885 (GRCm39) |
E697G |
possibly damaging |
Het |
| Trappc11 |
G |
A |
8: 47,966,801 (GRCm39) |
T470I |
probably damaging |
Het |
| Ttc7b |
G |
A |
12: 100,466,376 (GRCm39) |
R79C |
probably damaging |
Het |
| Usp29 |
A |
G |
7: 6,965,479 (GRCm39) |
T441A |
probably benign |
Het |
| Vmn2r110 |
A |
T |
17: 20,804,029 (GRCm39) |
L182* |
probably null |
Het |
| Zgrf1 |
T |
C |
3: 127,394,679 (GRCm39) |
I1345T |
probably benign |
Het |
| Zscan25 |
G |
T |
5: 145,227,815 (GRCm39) |
R493L |
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 |
|
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'- CTGGTTGATCTAGGCAGCAC -3'
(R):5'- TCATCAGAGCCATCCACAGG -3'
Sequencing Primer
(F):5'- CTGGTTGATCTAGGCAGCACAGTAG -3'
(R):5'- TGGGGCACTCACAATGTG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation