Incidental Mutation 'R6224:Pdgfrb'
ID |
504228 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdgfrb
|
Ensembl Gene |
ENSMUSG00000024620 |
Gene Name |
platelet derived growth factor receptor, beta polypeptide |
Synonyms |
CD140b, Pdgfr |
MMRRC Submission |
044355-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6224 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
61178222-61218133 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 61215011 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 1013
(Y1013*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110929
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025522]
[ENSMUST00000115274]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000025522
AA Change: Y1009*
|
SMART Domains |
Protein: ENSMUSP00000025522 Gene: ENSMUSG00000024620 AA Change: Y1009*
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
AA Change: Y1013*
|
SMART Domains |
Protein: ENSMUSP00000110929 Gene: ENSMUSG00000024620 AA Change: Y1013*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (55/55) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300003K06Rik |
A |
C |
11: 99,728,840 (GRCm39) |
M1R |
probably null |
Het |
4930505A04Rik |
A |
C |
11: 30,404,815 (GRCm39) |
N29K |
probably benign |
Het |
Adamtsl4 |
T |
C |
3: 95,589,039 (GRCm39) |
Y464C |
probably damaging |
Het |
Asgr2 |
T |
C |
11: 69,989,072 (GRCm39) |
V172A |
probably damaging |
Het |
Atad1 |
T |
C |
19: 32,676,028 (GRCm39) |
Y132C |
probably damaging |
Het |
Bpifa6 |
G |
A |
2: 153,829,073 (GRCm39) |
R200H |
probably damaging |
Het |
Brd1 |
A |
T |
15: 88,572,558 (GRCm39) |
M1171K |
possibly damaging |
Het |
Cadm2 |
A |
T |
16: 66,461,281 (GRCm39) |
L392Q |
probably damaging |
Het |
Ccdc183 |
C |
T |
2: 25,500,594 (GRCm39) |
E333K |
possibly damaging |
Het |
Cenpe |
T |
C |
3: 134,949,536 (GRCm39) |
I1335T |
possibly damaging |
Het |
Cpxm2 |
T |
C |
7: 131,745,460 (GRCm39) |
N122D |
probably benign |
Het |
Crls1 |
T |
A |
2: 132,691,770 (GRCm39) |
|
probably null |
Het |
Cyp46a1 |
T |
C |
12: 108,327,819 (GRCm39) |
F460S |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dcps |
T |
A |
9: 35,047,777 (GRCm39) |
T128S |
probably benign |
Het |
Dcun1d3 |
A |
T |
7: 119,458,714 (GRCm39) |
L107* |
probably null |
Het |
Eml1 |
T |
C |
12: 108,480,767 (GRCm39) |
F397S |
probably damaging |
Het |
Fanca |
T |
A |
8: 124,032,020 (GRCm39) |
H348L |
possibly damaging |
Het |
Foxo1 |
T |
A |
3: 52,253,093 (GRCm39) |
S419T |
probably benign |
Het |
Gli3 |
T |
C |
13: 15,899,730 (GRCm39) |
V1039A |
probably benign |
Het |
Gng14 |
A |
T |
8: 85,794,220 (GRCm39) |
*73R |
probably null |
Het |
Gp6 |
A |
T |
7: 4,397,211 (GRCm39) |
F75I |
probably benign |
Het |
Gpha2 |
T |
A |
19: 6,277,142 (GRCm39) |
I81N |
possibly damaging |
Het |
Gspt1 |
C |
A |
16: 11,042,406 (GRCm39) |
V493L |
probably benign |
Het |
Igsf10 |
C |
A |
3: 59,232,931 (GRCm39) |
C1934F |
probably damaging |
Het |
Irgm1 |
T |
C |
11: 48,757,713 (GRCm39) |
T49A |
probably benign |
Het |
Klc4 |
A |
G |
17: 46,950,988 (GRCm39) |
I207T |
possibly damaging |
Het |
Krt1 |
A |
T |
15: 101,758,702 (GRCm39) |
V154D |
possibly damaging |
Het |
Lama1 |
T |
C |
17: 68,109,982 (GRCm39) |
V2201A |
possibly damaging |
Het |
Lilrb4a |
T |
A |
10: 51,367,745 (GRCm39) |
Y96N |
probably damaging |
Het |
Lrfn2 |
A |
G |
17: 49,403,379 (GRCm39) |
T501A |
probably damaging |
Het |
Lrriq1 |
A |
G |
10: 103,051,618 (GRCm39) |
I378T |
probably damaging |
Het |
Mphosph8 |
T |
C |
14: 56,905,810 (GRCm39) |
M1T |
probably null |
Het |
Nsd1 |
T |
C |
13: 55,460,945 (GRCm39) |
S2391P |
possibly damaging |
Het |
Ogdhl |
G |
A |
14: 32,064,018 (GRCm39) |
G647D |
probably benign |
Het |
Or5p57 |
T |
C |
7: 107,665,949 (GRCm39) |
I19V |
probably benign |
Het |
Or6c76b |
A |
G |
10: 129,693,061 (GRCm39) |
K225E |
probably benign |
Het |
Pbrm1 |
T |
A |
14: 30,772,068 (GRCm39) |
H387Q |
probably benign |
Het |
Pitrm1 |
T |
C |
13: 6,615,090 (GRCm39) |
V562A |
probably damaging |
Het |
Pnpla8 |
T |
C |
12: 44,329,811 (GRCm39) |
V121A |
possibly damaging |
Het |
Psd4 |
T |
C |
2: 24,291,569 (GRCm39) |
L639P |
probably damaging |
Het |
Psmc3 |
G |
T |
2: 90,884,975 (GRCm39) |
R47L |
probably damaging |
Het |
Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
Sesn2 |
A |
G |
4: 132,229,881 (GRCm39) |
V50A |
probably benign |
Het |
Skic3 |
C |
T |
13: 76,266,410 (GRCm39) |
T219M |
probably benign |
Het |
Slc6a16 |
G |
A |
7: 44,910,572 (GRCm39) |
G377S |
probably damaging |
Het |
Slitrk1 |
A |
G |
14: 109,149,454 (GRCm39) |
F419S |
probably damaging |
Het |
Slitrk5 |
GACTAC |
GACTACTAC |
14: 111,917,248 (GRCm39) |
|
probably benign |
Het |
Spata31d1a |
T |
A |
13: 59,854,134 (GRCm39) |
|
probably benign |
Homo |
Tgoln1 |
A |
T |
6: 72,592,984 (GRCm39) |
D165E |
possibly damaging |
Het |
Tmprss15 |
T |
A |
16: 78,821,266 (GRCm39) |
T492S |
probably benign |
Het |
Zc3h13 |
T |
A |
14: 75,574,849 (GRCm39) |
M1565K |
probably damaging |
Het |
Zcwpw1 |
T |
C |
5: 137,810,298 (GRCm39) |
V358A |
possibly damaging |
Het |
Zfp607a |
A |
G |
7: 27,578,007 (GRCm39) |
H359R |
probably damaging |
Het |
Zzef1 |
T |
A |
11: 72,746,209 (GRCm39) |
V837E |
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 |
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'- TAGGGTTTCTAAGACATTGCCC -3'
(R):5'- TCTAGCTAGCTGACAGTCCTTC -3'
Sequencing Primer
(F):5'- GGTTTCTAAGACATTGCCCATCAAAC -3'
(R):5'- TGGCAAGTCTGGTTACACAC -3'
|
Posted On |
2018-02-28 |