Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02435:Pdgfrb'

293264

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdgfrb

Ensembl Gene

ENSMUSG00000024620

Gene Name

platelet derived growth factor receptor, beta polypeptide

Synonyms

CD140b, Pdgfr

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02435

Quality Score

Status

Chromosome

Chromosomal Location

61178222-61218133 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 61197998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000025522
Gene: ENSMUSG00000024620

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

SMART Domains

Protein: ENSMUSP00000110929
Gene: ENSMUSG00000024620

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

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amph	A	G	13: 19,323,333 (GRCm39)		probably benign	Het
Ankrd12	G	T	17: 66,294,151 (GRCm39)	S427R	probably damaging	Het
Atp4a	A	G	7: 30,416,482 (GRCm39)	T420A	probably benign	Het
Braf	C	T	6: 39,623,700 (GRCm39)	S414N	probably benign	Het
C1rl	T	C	6: 124,485,832 (GRCm39)	L401P	probably damaging	Het
Ecpas	A	G	4: 58,830,325 (GRCm39)		probably benign	Het
Elmo1	A	T	13: 20,773,826 (GRCm39)	D612V	probably damaging	Het
Fbxo15	T	C	18: 84,977,351 (GRCm39)	S88P	probably damaging	Het
Glrx3	A	G	7: 137,063,125 (GRCm39)	N132S	possibly damaging	Het
Hamp	G	T	7: 30,643,324 (GRCm39)	Q29K	probably benign	Het
Igfbp2	G	A	1: 72,891,245 (GRCm39)	R281Q	probably damaging	Het
Itih3	C	T	14: 30,637,711 (GRCm39)	A483T	probably damaging	Het
Mrc1	C	T	2: 14,253,671 (GRCm39)	Q231*	probably null	Het
Nif3l1	A	G	1: 58,487,020 (GRCm39)	T69A	possibly damaging	Het
Ntrk1	A	G	3: 87,696,039 (GRCm39)	F157S	probably benign	Het
Or2ag1b	A	G	7: 106,288,710 (GRCm39)	V76A	probably benign	Het
Or4a72	A	G	2: 89,405,890 (GRCm39)	F60S	probably damaging	Het
Or5b97	A	T	19: 12,878,391 (GRCm39)	I251N	probably damaging	Het
Pck2	T	C	14: 55,781,847 (GRCm39)		probably benign	Het
Ric8b	A	G	10: 84,815,940 (GRCm39)	N194S	probably benign	Het
Rlbp1	A	G	7: 79,031,414 (GRCm39)	F105L	probably damaging	Het
Sde2	G	T	1: 180,693,717 (GRCm39)	K402N	probably damaging	Het
Slc13a3	T	C	2: 165,250,860 (GRCm39)	H461R	possibly damaging	Het
Spag17	A	T	3: 99,889,760 (GRCm39)	I210F	possibly damaging	Het
Szt2	G	A	4: 118,248,020 (GRCm39)	R735W	probably damaging	Het
Tspan6	T	C	X: 132,793,493 (GRCm39)	Y186C	probably benign	Het
Ugt8a	A	G	3: 125,660,969 (GRCm39)	S508P	probably benign	Het
Zfp217	T	C	2: 169,961,373 (GRCm39)	D318G	possibly 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
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
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

Posted On

2015-04-16