Incidental Mutation 'R1165:Pdgfrb'
| ID |
100981 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdgfrb
|
| Ensembl Gene |
ENSMUSG00000024620 |
| Gene Name |
platelet derived growth factor receptor, beta polypeptide |
| Synonyms |
CD140b, Pdgfr |
| MMRRC Submission |
039238-MU
|
| Accession Numbers |
Ncbi RefSeq: NM_001146268.1, NM_008809.2; MGI:97531
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1165 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
61045150-61085061 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61064002 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 170
(I170T)
|
| 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: I166T
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000025522
Gene: ENSMUSG00000024620
AA Change: I166T
| 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: I170T
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000110929
Gene: ENSMUSG00000024620
AA Change: I170T
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.4%
|
| Validation Efficiency |
98% (50/51) |
| MGI Phenotype |
Strain: 2682393; 2135508
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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1520401A03Rik |
A |
C |
17: 23,710,515 (GRCm38) |
|
probably benign |
Het |
| 2210408I21Rik |
T |
G |
13: 77,334,287 (GRCm38) |
C1209G |
probably benign |
Het |
| Abcg2 |
C |
A |
6: 58,678,300 (GRCm38) |
L407I |
probably benign |
Het |
| Adtrp |
A |
G |
13: 41,814,303 (GRCm38) |
V56A |
probably damaging |
Het |
| Angptl6 |
T |
G |
9: 20,878,308 (GRCm38) |
N96T |
probably benign |
Het |
| Ank3 |
C |
A |
10: 69,898,302 (GRCm38) |
N780K |
possibly damaging |
Het |
| AU040320 |
A |
T |
4: 126,823,640 (GRCm38) |
|
probably benign |
Het |
| Best2 |
C |
T |
8: 85,011,160 (GRCm38) |
R202H |
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,821,053 (GRCm38) |
S973T |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,542,747 (GRCm38) |
V1992E |
probably damaging |
Het |
| Casp8ap2 |
C |
T |
4: 32,640,563 (GRCm38) |
P539L |
probably benign |
Het |
| Ccr1 |
A |
T |
9: 123,963,494 (GRCm38) |
V333E |
possibly damaging |
Het |
| Celf5 |
A |
T |
10: 81,471,338 (GRCm38) |
V83E |
probably damaging |
Het |
| Col15a1 |
T |
C |
4: 47,257,275 (GRCm38) |
|
probably benign |
Het |
| Coro1b |
C |
A |
19: 4,149,902 (GRCm38) |
H81N |
probably damaging |
Het |
| Cwc22 |
A |
T |
2: 77,903,898 (GRCm38) |
S686T |
probably damaging |
Het |
| Cyp2d26 |
C |
A |
15: 82,794,041 (GRCm38) |
G45W |
probably damaging |
Het |
| Dysf |
T |
A |
6: 84,067,069 (GRCm38) |
N297K |
probably damaging |
Het |
| Edem1 |
T |
A |
6: 108,851,253 (GRCm38) |
L513Q |
probably damaging |
Het |
| Erich1 |
G |
A |
8: 14,090,530 (GRCm38) |
|
probably benign |
Het |
| Fam196b |
A |
G |
11: 34,402,740 (GRCm38) |
T261A |
probably benign |
Het |
| Fam91a1 |
T |
C |
15: 58,430,669 (GRCm38) |
V286A |
possibly damaging |
Het |
| Fdxr |
C |
A |
11: 115,271,782 (GRCm38) |
|
probably benign |
Het |
| Gas7 |
T |
C |
11: 67,670,686 (GRCm38) |
|
probably benign |
Het |
| Glb1l2 |
T |
C |
9: 26,794,101 (GRCm38) |
D151G |
probably damaging |
Het |
| Gm14410 |
A |
C |
2: 177,193,489 (GRCm38) |
Y327* |
probably null |
Het |
| H6pd |
A |
G |
4: 149,995,956 (GRCm38) |
I136T |
possibly damaging |
Het |
| Hectd1 |
A |
T |
12: 51,764,164 (GRCm38) |
|
probably benign |
Het |
| Hipk1 |
T |
C |
3: 103,761,524 (GRCm38) |
T519A |
possibly damaging |
Het |
| Hpd |
A |
G |
5: 123,176,090 (GRCm38) |
|
probably null |
Het |
| Olfr371 |
T |
A |
8: 85,230,771 (GRCm38) |
I92N |
probably damaging |
Het |
| Olfr809 |
A |
G |
10: 129,776,433 (GRCm38) |
D188G |
probably damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,007,704 (GRCm38) |
|
probably benign |
Het |
| Rasgrp1 |
A |
T |
2: 117,284,939 (GRCm38) |
F723I |
possibly damaging |
Het |
| Retnlg |
A |
G |
16: 48,873,654 (GRCm38) |
T58A |
possibly damaging |
Het |
| Rrs1 |
G |
A |
1: 9,545,767 (GRCm38) |
E82K |
probably damaging |
Het |
| Rtel1 |
A |
G |
2: 181,334,939 (GRCm38) |
K243E |
probably benign |
Het |
| Slc19a2 |
G |
A |
1: 164,263,445 (GRCm38) |
G274D |
probably damaging |
Het |
| Slc22a27 |
T |
C |
19: 7,909,694 (GRCm38) |
|
probably null |
Het |
| Slc6a1 |
T |
C |
6: 114,311,829 (GRCm38) |
F266L |
probably damaging |
Het |
| Snx25 |
T |
G |
8: 46,035,715 (GRCm38) |
I868L |
probably damaging |
Het |
| Spag16 |
A |
G |
1: 69,996,877 (GRCm38) |
I355V |
probably benign |
Het |
| Tmem198 |
A |
T |
1: 75,479,932 (GRCm38) |
|
probably benign |
Het |
| Traf3ip3 |
A |
C |
1: 193,184,478 (GRCm38) |
S349A |
probably damaging |
Het |
| Trim17 |
A |
G |
11: 58,971,215 (GRCm38) |
N358D |
possibly damaging |
Het |
| Trmu |
A |
G |
15: 85,892,674 (GRCm38) |
T196A |
probably damaging |
Het |
| Tsen2 |
A |
G |
6: 115,561,435 (GRCm38) |
Y291C |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 145,126,471 (GRCm38) |
F2358L |
probably benign |
Het |
| Wnt2 |
T |
C |
6: 17,989,947 (GRCm38) |
H317R |
probably benign |
Het |
| Zfp120 |
A |
T |
2: 150,119,929 (GRCm38) |
V33E |
probably damaging |
Het |
| Zfp407 |
C |
T |
18: 84,559,773 (GRCm38) |
A1072T |
probably benign |
Het |
|
| Other mutations in Pdgfrb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00553:Pdgfrb
|
APN |
18 |
61,068,936 (GRCm38) |
missense |
probably benign |
0.20 |
|
IGL01396:Pdgfrb
|
APN |
18 |
61,072,664 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02377:Pdgfrb
|
APN |
18 |
61,080,332 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02435:Pdgfrb
|
APN |
18 |
61,064,926 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03397:Pdgfrb
|
APN |
18 |
61,079,681 (GRCm38) |
missense |
probably benign |
0.28 |
|
R0021:Pdgfrb
|
UTSW |
18 |
61,064,926 (GRCm38) |
critical splice donor site |
probably benign |
|
|
R0021:Pdgfrb
|
UTSW |
18 |
61,064,926 (GRCm38) |
critical splice donor site |
probably benign |
|
|
R0087:Pdgfrb
|
UTSW |
18 |
61,061,513 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0119:Pdgfrb
|
UTSW |
18 |
61,068,852 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0299:Pdgfrb
|
UTSW |
18 |
61,068,852 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0532:Pdgfrb
|
UTSW |
18 |
61,083,265 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0570:Pdgfrb
|
UTSW |
18 |
61,077,703 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0629:Pdgfrb
|
UTSW |
18 |
61,078,648 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0650:Pdgfrb
|
UTSW |
18 |
61,079,708 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0853:Pdgfrb
|
UTSW |
18 |
61,080,327 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1342:Pdgfrb
|
UTSW |
18 |
61,065,880 (GRCm38) |
nonsense |
probably null |
|
|
R1740:Pdgfrb
|
UTSW |
18 |
61,081,833 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1808:Pdgfrb
|
UTSW |
18 |
61,068,102 (GRCm38) |
missense |
probably benign |
|
|
R1864:Pdgfrb
|
UTSW |
18 |
61,071,717 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1960:Pdgfrb
|
UTSW |
18 |
61,065,783 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1961:Pdgfrb
|
UTSW |
18 |
61,061,505 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R1970:Pdgfrb
|
UTSW |
18 |
61,066,494 (GRCm38) |
splice site |
probably benign |
|
|
R2011:Pdgfrb
|
UTSW |
18 |
61,061,494 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2012:Pdgfrb
|
UTSW |
18 |
61,061,494 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2018:Pdgfrb
|
UTSW |
18 |
61,083,334 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R2153:Pdgfrb
|
UTSW |
18 |
61,072,756 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2497:Pdgfrb
|
UTSW |
18 |
61,078,628 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R2846:Pdgfrb
|
UTSW |
18 |
61,064,016 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3776:Pdgfrb
|
UTSW |
18 |
61,081,920 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3779:Pdgfrb
|
UTSW |
18 |
61,072,666 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3816:Pdgfrb
|
UTSW |
18 |
61,078,945 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3978:Pdgfrb
|
UTSW |
18 |
61,073,685 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4259:Pdgfrb
|
UTSW |
18 |
61,077,631 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4261:Pdgfrb
|
UTSW |
18 |
61,077,631 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4327:Pdgfrb
|
UTSW |
18 |
61,071,720 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R4329:Pdgfrb
|
UTSW |
18 |
61,071,720 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R4598:Pdgfrb
|
UTSW |
18 |
61,068,757 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4668:Pdgfrb
|
UTSW |
18 |
61,064,113 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4761:Pdgfrb
|
UTSW |
18 |
61,079,700 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4787:Pdgfrb
|
UTSW |
18 |
61,079,687 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4828:Pdgfrb
|
UTSW |
18 |
61,073,243 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5030:Pdgfrb
|
UTSW |
18 |
61,065,135 (GRCm38) |
missense |
probably benign |
0.13 |
|
R5033:Pdgfrb
|
UTSW |
18 |
61,077,668 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5447:Pdgfrb
|
UTSW |
18 |
61,068,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6224:Pdgfrb
|
UTSW |
18 |
61,081,939 (GRCm38) |
nonsense |
probably null |
|
|
R6807:Pdgfrb
|
UTSW |
18 |
61,078,649 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6858:Pdgfrb
|
UTSW |
18 |
61,065,147 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7017:Pdgfrb
|
UTSW |
18 |
61,081,004 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7089:Pdgfrb
|
UTSW |
18 |
61,073,243 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7174:Pdgfrb
|
UTSW |
18 |
61,066,515 (GRCm38) |
missense |
probably benign |
|
|
R7374:Pdgfrb
|
UTSW |
18 |
61,071,708 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R7496:Pdgfrb
|
UTSW |
18 |
61,078,932 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R7565:Pdgfrb
|
UTSW |
18 |
61,083,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7615:Pdgfrb
|
UTSW |
18 |
61,064,046 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7691:Pdgfrb
|
UTSW |
18 |
61,061,268 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7884:Pdgfrb
|
UTSW |
18 |
61,072,658 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8481:Pdgfrb
|
UTSW |
18 |
61,065,742 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8735:Pdgfrb
|
UTSW |
18 |
61,063,977 (GRCm38) |
missense |
probably benign |
0.26 |
|
R8737:Pdgfrb
|
UTSW |
18 |
61,081,001 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9067:Pdgfrb
|
UTSW |
18 |
61,068,219 (GRCm38) |
missense |
probably null |
0.93 |
|
R9106:Pdgfrb
|
UTSW |
18 |
61,046,028 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9161:Pdgfrb
|
UTSW |
18 |
61,063,981 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9234:Pdgfrb
|
UTSW |
18 |
61,061,228 (GRCm38) |
missense |
probably null |
0.00 |
|
R9380:Pdgfrb
|
UTSW |
18 |
61,064,848 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9452:Pdgfrb
|
UTSW |
18 |
61,065,726 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R9491:Pdgfrb
|
UTSW |
18 |
61,078,984 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9646:Pdgfrb
|
UTSW |
18 |
61,078,649 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9717:Pdgfrb
|
UTSW |
18 |
61,072,715 (GRCm38) |
nonsense |
probably null |
|
|
X0060:Pdgfrb
|
UTSW |
18 |
61,081,976 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation