Incidental Mutation 'R8735:Pdgfrb'
| ID |
663015 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdgfrb
|
| Ensembl Gene |
ENSMUSG00000024620 |
| Gene Name |
platelet derived growth factor receptor, beta polypeptide |
| Synonyms |
CD140b, Pdgfr |
| MMRRC Submission |
068583-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8735 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
61178222-61218133 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 61197049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 162
(T162S)
|
| 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: T158S
PolyPhen 2
Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000025522
Gene: ENSMUSG00000024620
AA Change: T158S
| 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: T162S
PolyPhen 2
Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110929
Gene: ENSMUSG00000024620
AA Change: T162S
| 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: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
99% (76/77) |
| 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 |
|---|
| 6430550D23Rik |
A |
G |
2: 155,845,731 (GRCm39) |
F9S |
unknown |
Het |
| Abhd10 |
A |
G |
16: 45,557,997 (GRCm39) |
F101L |
probably damaging |
Het |
| Acp2 |
A |
G |
2: 91,034,651 (GRCm39) |
T93A |
probably benign |
Het |
| Adamts9 |
C |
T |
6: 92,837,048 (GRCm39) |
|
probably benign |
Het |
| Aknad1 |
T |
A |
3: 108,682,615 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
T |
10: 69,822,785 (GRCm39) |
T485S |
probably benign |
Het |
| Caly |
G |
A |
7: 139,652,503 (GRCm39) |
R82C |
probably damaging |
Het |
| Cfhr2 |
A |
G |
1: 139,786,343 (GRCm39) |
L8P |
probably damaging |
Het |
| Cpeb2 |
T |
A |
5: 43,438,775 (GRCm39) |
L869* |
probably null |
Het |
| Cxxc1 |
A |
G |
18: 74,350,331 (GRCm39) |
K33E |
possibly damaging |
Het |
| Cyp17a1 |
T |
C |
19: 46,659,533 (GRCm39) |
|
probably null |
Het |
| Cyp4a30b |
G |
A |
4: 115,309,976 (GRCm39) |
W59* |
probably null |
Het |
| Dennd4b |
T |
C |
3: 90,185,172 (GRCm39) |
V1204A |
probably damaging |
Het |
| Dpyd |
T |
A |
3: 118,935,565 (GRCm39) |
D663E |
possibly damaging |
Het |
| Esrrg |
A |
T |
1: 187,933,205 (GRCm39) |
|
probably benign |
Het |
| Exoc2 |
A |
C |
13: 31,090,822 (GRCm39) |
L261V |
probably damaging |
Het |
| Exosc9 |
T |
C |
3: 36,609,662 (GRCm39) |
L185S |
probably damaging |
Het |
| Gcnt3 |
T |
C |
9: 69,941,728 (GRCm39) |
K280R |
probably benign |
Het |
| Ighv1-64 |
A |
T |
12: 115,471,217 (GRCm39) |
M100K |
probably benign |
Het |
| Impdh2 |
G |
A |
9: 108,441,978 (GRCm39) |
|
probably null |
Het |
| Itsn2 |
T |
A |
12: 4,721,474 (GRCm39) |
I1068K |
probably damaging |
Het |
| Kif5c |
T |
C |
2: 49,584,783 (GRCm39) |
C169R |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,490,130 (GRCm39) |
S211G |
probably benign |
Het |
| Lama2 |
T |
A |
10: 27,066,530 (GRCm39) |
E1117V |
probably damaging |
Het |
| Lgals4 |
C |
T |
7: 28,540,921 (GRCm39) |
R282C |
probably damaging |
Het |
| Lsg1 |
T |
A |
16: 30,399,865 (GRCm39) |
|
probably null |
Het |
| Mab21l4 |
C |
T |
1: 93,082,208 (GRCm39) |
|
probably null |
Het |
| Msh3 |
A |
G |
13: 92,411,374 (GRCm39) |
S608P |
possibly damaging |
Het |
| Mslnl |
T |
A |
17: 25,964,062 (GRCm39) |
F464I |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,460,586 (GRCm39) |
K1493N |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,401,679 (GRCm39) |
|
probably null |
Het |
| Myo1b |
A |
T |
1: 51,794,896 (GRCm39) |
F1065I |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,345,136 (GRCm39) |
|
probably benign |
Het |
| Nup153 |
C |
A |
13: 46,881,027 (GRCm39) |
|
probably benign |
Het |
| Or4f4-ps1 |
T |
A |
2: 111,330,497 (GRCm39) |
I300K |
probably damaging |
Het |
| Or5b97 |
A |
G |
19: 12,878,274 (GRCm39) |
V290A |
possibly damaging |
Het |
| Osbpl7 |
A |
G |
11: 96,943,194 (GRCm39) |
T149A |
probably benign |
Het |
| Parp1 |
A |
G |
1: 180,396,690 (GRCm39) |
D31G |
probably benign |
Het |
| Pcdha6 |
T |
A |
18: 37,101,203 (GRCm39) |
V132E |
possibly damaging |
Het |
| Pcdhb8 |
T |
A |
18: 37,489,975 (GRCm39) |
L551Q |
possibly damaging |
Het |
| Pcsk9 |
T |
A |
4: 106,311,808 (GRCm39) |
T190S |
probably damaging |
Het |
| Pi4ka |
C |
T |
16: 17,136,234 (GRCm39) |
R908Q |
|
Het |
| Pnpla8 |
A |
G |
12: 44,330,222 (GRCm39) |
E258G |
probably benign |
Het |
| Prrc2c |
A |
T |
1: 162,537,127 (GRCm39) |
S643T |
unknown |
Het |
| Rnf20 |
T |
G |
4: 49,655,964 (GRCm39) |
I970S |
possibly damaging |
Het |
| Robo2 |
A |
T |
16: 73,755,247 (GRCm39) |
V758D |
probably damaging |
Het |
| Robo4 |
G |
A |
9: 37,319,577 (GRCm39) |
S609N |
possibly damaging |
Het |
| Rrbp1 |
G |
A |
2: 143,830,920 (GRCm39) |
Q416* |
probably null |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
C |
A |
13: 11,701,833 (GRCm39) |
E2941D |
probably damaging |
Het |
| Scd2 |
G |
T |
19: 44,289,743 (GRCm39) |
C246F |
probably benign |
Het |
| Sh3rf1 |
G |
A |
8: 61,825,687 (GRCm39) |
V561I |
probably benign |
Het |
| Slc4a4 |
T |
A |
5: 89,280,301 (GRCm39) |
D366E |
probably damaging |
Het |
| Slfn14 |
T |
G |
11: 83,174,715 (GRCm39) |
Q92P |
probably damaging |
Het |
| Slfn4 |
A |
T |
11: 83,077,770 (GRCm39) |
Y186F |
probably damaging |
Het |
| Smpd4 |
T |
C |
16: 17,453,410 (GRCm39) |
L309P |
possibly damaging |
Het |
| Smyd3 |
G |
T |
1: 178,920,482 (GRCm39) |
N217K |
probably benign |
Het |
| Spen |
T |
C |
4: 141,197,129 (GRCm39) |
T3547A |
probably benign |
Het |
| Suclg1 |
A |
T |
6: 73,253,729 (GRCm39) |
I126F |
unknown |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tmprss15 |
A |
T |
16: 78,798,702 (GRCm39) |
I660N |
possibly damaging |
Het |
| Trf |
A |
T |
9: 103,087,723 (GRCm39) |
V677D |
probably damaging |
Het |
| Trim36 |
T |
C |
18: 46,302,452 (GRCm39) |
N532S |
probably benign |
Het |
| Trim37 |
T |
C |
11: 87,037,885 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,570,454 (GRCm39) |
N26813S |
probably benign |
Het |
| Vmn1r199 |
T |
A |
13: 22,567,537 (GRCm39) |
V277D |
probably damaging |
Het |
| Wdfy3 |
T |
C |
5: 102,077,951 (GRCm39) |
D873G |
probably benign |
Het |
| Wdr27 |
T |
C |
17: 15,103,929 (GRCm39) |
T726A |
probably damaging |
Het |
| Wdr97 |
T |
C |
15: 76,240,775 (GRCm39) |
Y488H |
|
Het |
| Wdtc1 |
A |
T |
4: 133,031,511 (GRCm39) |
C236* |
probably null |
Het |
| Wnk4 |
A |
C |
11: 101,167,092 (GRCm39) |
S1083R |
unknown |
Het |
| Wwc1 |
A |
T |
11: 35,774,234 (GRCm39) |
I342N |
probably damaging |
Het |
| Zbtb40 |
A |
G |
4: 136,725,957 (GRCm39) |
L534P |
probably damaging |
Het |
| Zfp62 |
T |
C |
11: 49,108,227 (GRCm39) |
C773R |
probably damaging |
Het |
| Zfp709 |
T |
A |
8: 72,643,027 (GRCm39) |
I152N |
probably benign |
Het |
| Zfp738 |
T |
C |
13: 67,819,550 (GRCm39) |
Y147C |
probably damaging |
Het |
| Zscan18 |
A |
C |
7: 12,503,625 (GRCm39) |
S645A |
probably benign |
Het |
| Zw10 |
A |
G |
9: 48,988,861 (GRCm39) |
Y709C |
probably damaging |
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 |
|
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'- TGAATGCAGTTTGGAGGGGAC -3'
(R):5'- CCAGAAGGCGAGGCTCAC -3'
Sequencing Primer
(F):5'- CCATGAAGGACTGCTGCTTACTAG -3'
(R):5'- ACCCTGGAGGCTGTAGACGTAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation