Incidental Mutation 'R4761:Pdgfrb'
| ID |
356915 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdgfrb
|
| Ensembl Gene |
ENSMUSG00000024620 |
| Gene Name |
platelet derived growth factor receptor, beta polypeptide |
| Synonyms |
CD140b, Pdgfr |
| MMRRC Submission |
042402-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4761 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
61178222-61218133 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 61212772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Tyrosine
at position 892
(S892Y)
|
| 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: S888Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025522
Gene: ENSMUSG00000024620
AA Change: S888Y
| 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: S892Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110929
Gene: ENSMUSG00000024620
AA Change: S892Y
| 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 |
|
| Meta Mutation Damage Score |
0.9541 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
100% (69/69) |
| 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 |
|---|
| 9630041A04Rik |
A |
G |
9: 101,820,165 (GRCm39) |
D195G |
possibly damaging |
Het |
| Abcc8 |
G |
A |
7: 45,762,499 (GRCm39) |
R1221C |
probably damaging |
Het |
| Adra1a |
T |
A |
14: 66,964,880 (GRCm39) |
|
probably null |
Het |
| Akr1c6 |
A |
T |
13: 4,497,010 (GRCm39) |
M98L |
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,753,916 (GRCm39) |
Q1632R |
probably damaging |
Het |
| Arhgap24 |
G |
T |
5: 102,812,080 (GRCm39) |
|
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,308,504 (GRCm39) |
*40W |
probably null |
Het |
| Bdkrb2 |
A |
T |
12: 105,554,537 (GRCm39) |
M17L |
probably benign |
Het |
| C4bp |
T |
C |
1: 130,581,158 (GRCm39) |
K117R |
possibly damaging |
Het |
| Cacng3 |
A |
T |
7: 122,367,887 (GRCm39) |
T256S |
probably benign |
Het |
| Cep63 |
T |
C |
9: 102,464,240 (GRCm39) |
|
probably benign |
Het |
| Ces2b |
T |
A |
8: 105,563,193 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
T |
A |
9: 79,564,592 (GRCm39) |
D1696V |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dcst1 |
A |
T |
3: 89,264,860 (GRCm39) |
M296K |
possibly damaging |
Het |
| Ehbp1l1 |
G |
A |
19: 5,769,875 (GRCm39) |
P476L |
possibly damaging |
Het |
| Enpp1 |
A |
G |
10: 24,517,849 (GRCm39) |
V858A |
possibly damaging |
Het |
| Ermp1 |
T |
A |
19: 29,623,656 (GRCm39) |
E55D |
probably benign |
Het |
| Eya1 |
G |
A |
1: 14,373,045 (GRCm39) |
L25F |
probably damaging |
Het |
| Foxn2 |
T |
A |
17: 88,770,136 (GRCm39) |
|
probably null |
Het |
| Gabrb3 |
A |
T |
7: 57,415,250 (GRCm39) |
T107S |
probably damaging |
Het |
| Gm26678 |
A |
T |
3: 54,540,564 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7897 |
G |
T |
1: 173,657,536 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9789 |
A |
T |
16: 88,954,915 (GRCm39) |
Y8F |
unknown |
Het |
| Gsta3 |
A |
T |
1: 21,330,381 (GRCm39) |
T78S |
probably benign |
Het |
| H2-Ab1 |
A |
G |
17: 34,486,474 (GRCm39) |
N178D |
probably damaging |
Het |
| Herc6 |
G |
A |
6: 57,639,885 (GRCm39) |
V1000I |
probably benign |
Het |
| Hrnr |
A |
C |
3: 93,230,062 (GRCm39) |
K100T |
probably damaging |
Het |
| Ift57 |
T |
C |
16: 49,522,263 (GRCm39) |
F2L |
probably damaging |
Het |
| Iqca1l |
A |
G |
5: 24,756,981 (GRCm39) |
V232A |
probably benign |
Het |
| Kmt2a |
C |
A |
9: 44,760,421 (GRCm39) |
R509L |
probably damaging |
Het |
| Lefty1 |
T |
A |
1: 180,765,190 (GRCm39) |
C253S |
probably benign |
Het |
| Lhx3 |
TCCTACGGGCCGGCCC |
TCC |
2: 26,091,435 (GRCm39) |
|
probably null |
Het |
| Mfsd9 |
T |
C |
1: 40,813,635 (GRCm39) |
K227E |
possibly damaging |
Het |
| Mrps2 |
C |
G |
2: 28,359,946 (GRCm39) |
H268D |
probably benign |
Het |
| Mrps27 |
T |
A |
13: 99,548,739 (GRCm39) |
S292T |
probably benign |
Het |
| Ncaph |
T |
C |
2: 126,948,036 (GRCm39) |
D683G |
probably benign |
Het |
| Nlrc3 |
A |
T |
16: 3,781,514 (GRCm39) |
S632T |
probably damaging |
Het |
| Nsun6 |
T |
C |
2: 15,034,872 (GRCm39) |
T198A |
possibly damaging |
Het |
| Oasl2 |
C |
T |
5: 115,037,836 (GRCm39) |
H78Y |
probably benign |
Het |
| Or8b54 |
T |
C |
9: 38,687,133 (GRCm39) |
V194A |
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,814,512 (GRCm39) |
D2G |
possibly damaging |
Het |
| Phf8-ps |
A |
T |
17: 33,286,172 (GRCm39) |
V210D |
probably damaging |
Het |
| Por |
T |
G |
5: 135,754,784 (GRCm39) |
|
probably benign |
Het |
| Ppp2r5e |
A |
T |
12: 75,640,035 (GRCm39) |
V22D |
possibly damaging |
Het |
| Prcp |
A |
G |
7: 92,566,933 (GRCm39) |
|
probably null |
Het |
| Ptchd3 |
A |
T |
11: 121,727,224 (GRCm39) |
N366I |
possibly damaging |
Het |
| Rprd1b |
A |
G |
2: 157,889,890 (GRCm39) |
E4G |
probably damaging |
Het |
| Semp2l1 |
A |
T |
1: 32,585,588 (GRCm39) |
S107R |
possibly damaging |
Het |
| Serpinb6d |
C |
A |
13: 33,855,250 (GRCm39) |
S308Y |
probably damaging |
Het |
| Slc12a7 |
T |
C |
13: 73,961,708 (GRCm39) |
V1026A |
probably benign |
Het |
| Slc17a7 |
G |
A |
7: 44,820,408 (GRCm39) |
V313I |
probably benign |
Het |
| Slc35c1 |
T |
A |
2: 92,289,168 (GRCm39) |
M113L |
probably damaging |
Het |
| Smgc |
A |
G |
15: 91,729,717 (GRCm39) |
T178A |
possibly damaging |
Het |
| Spef2 |
A |
T |
15: 9,653,040 (GRCm39) |
W914R |
probably damaging |
Het |
| Srfbp1 |
C |
A |
18: 52,621,638 (GRCm39) |
P233Q |
probably damaging |
Het |
| Swt1 |
A |
C |
1: 151,276,853 (GRCm39) |
C508G |
probably benign |
Het |
| Tex22 |
T |
C |
12: 113,052,386 (GRCm39) |
V148A |
possibly damaging |
Het |
| Tle7 |
A |
T |
8: 110,836,753 (GRCm39) |
D213V |
probably damaging |
Het |
| Tpd52 |
G |
A |
3: 9,028,933 (GRCm39) |
P37L |
probably damaging |
Het |
| Utp25 |
T |
C |
1: 192,796,230 (GRCm39) |
Y145C |
probably damaging |
Het |
| Vmn1r197 |
A |
T |
13: 22,512,174 (GRCm39) |
M32L |
probably benign |
Het |
| Vmn2r100 |
T |
C |
17: 19,741,630 (GRCm39) |
F114S |
possibly damaging |
Het |
| Xdh |
T |
A |
17: 74,217,262 (GRCm39) |
I669F |
possibly damaging |
Het |
| Zfp940 |
G |
A |
7: 29,545,578 (GRCm39) |
R110C |
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 |
|
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'- ACAGCTTCCCAATGCTCTGG -3'
(R):5'- TGAGAACACAATGCCCTTGG -3'
Sequencing Primer
(F):5'- AATGCTCTGGCCAGGAGTG -3'
(R):5'- CCCTTGGCATTGGAAAATAGACTC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation