Mutagenetix > Incidental Mutation

Incidental Mutation 'R9717:Pdgfrb'

730572

Institutional Source

Beutler Lab

Gene Symbol

Pdgfrb

Ensembl Gene

ENSMUSG00000024620

Gene Name

platelet derived growth factor receptor, beta polypeptide

Synonyms

CD140b, Pdgfr

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_001146268.1, NM_008809.2; MGI:97531

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61045150-61085061 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 61072715 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 591 (L591*)

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: L587*

SMART Domains

Protein: ENSMUSP00000025522
Gene: ENSMUSG00000024620
AA Change: L587*

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: L591*

SMART Domains

Protein: ENSMUSP00000110929
Gene: ENSMUSG00000024620
AA Change: L591*

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: 99.7%
20x: 99.0%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,520,781	N2552I	probably damaging	Het
Amph	G	T	13: 19,125,083	A444S	probably benign	Het
Ankrd52	A	G	10: 128,380,588	N157S	probably benign	Het
Arhgap29	T	C	3: 122,004,271	F537L	probably benign	Het
Asic1	A	C	15: 99,692,776	T136P	probably damaging	Het
Atg2b	T	C	12: 105,639,302	Y1468C	probably benign	Het
Atm	A	G	9: 53,516,517	L431P	probably damaging	Het
Btaf1	A	G	19: 36,945,246	T17A	probably benign	Het
Car10	A	G	11: 93,304,541	N58S	probably benign	Het
Cd79b	A	T	11: 106,312,019	D252E	probably damaging	Het
Cdipt	C	T	7: 126,977,030		probably benign	Het
Cebpe	T	C	14: 54,711,708	D84G	probably damaging	Het
Cenpj	T	C	14: 56,552,996	E532G	probably benign	Het
Cherp	A	G	8: 72,463,076		probably null	Het
Chuk	T	C	19: 44,082,670	D532G	possibly damaging	Het
Clec1b	C	T	6: 129,397,640	T9I	probably benign	Het
Clspn	G	T	4: 126,564,963	A280S	possibly damaging	Het
Cts3	T	G	13: 61,564,985	Y307S	probably benign	Het
Cyp2c39	T	C	19: 39,568,049	M443T	possibly damaging	Het
Dhx57	C	T	17: 80,275,018	R386H	probably damaging	Het
Dhx58	A	T	11: 100,701,307	M305K	probably benign	Het
Dlgap3	T	C	4: 127,235,494	L894P	probably damaging	Het
Dnah3	A	T	7: 119,975,076	N2164K	probably damaging	Het
Dnajb14	A	G	3: 137,902,283	N183S	probably benign	Het
Drd5	G	T	5: 38,320,747	R361L	probably damaging	Het
Duoxa1	T	C	2: 122,305,141	E159G	probably damaging	Het
Exoc1	T	A	5: 76,563,232	S659R	probably benign	Het
Fam214b	T	C	4: 43,036,050	H227R	probably damaging	Het
Fbln7	T	C	2: 128,877,394	I37T	probably benign	Het
Fcgrt	T	G	7: 45,095,429	E205A	possibly damaging	Het
Fcho2	A	T	13: 98,763,694	S304T	probably damaging	Het
Gbp9	C	A	5: 105,105,721	G43*	probably null	Het
Gm21671	T	C	5: 25,949,831	E257G	probably damaging	Het
Gucy2d	A	G	7: 98,474,661	K151R	probably benign	Het
Heatr4	T	A	12: 83,978,055	I331F	probably damaging	Het
Hmcn1	G	A	1: 150,609,627	T4408I	probably damaging	Het
Hoxc9	C	T	15: 102,982,119	T156M	probably benign	Het
Hrnr	A	T	3: 93,320,680	E35V	probably damaging	Het
Idua	C	T	5: 108,670,171	Q70*	probably null	Het
Klf5	A	T	14: 99,301,753	I201F	probably damaging	Het
Lonrf1	T	C	8: 36,234,010	K349E	probably damaging	Het
Lrp1b	A	T	2: 41,268,383	D1721E		Het
Mdh1	T	A	11: 21,571,870		probably benign	Het
Mllt11	T	C	3: 95,220,210	H83R	probably benign	Het
Mrgprb4	A	C	7: 48,198,835	I115S	possibly damaging	Het
Mrpl38	A	G	11: 116,132,470	F319S	probably damaging	Het
Naif1	A	T	2: 32,454,895	M204L	probably benign	Het
Ncan	T	A	8: 70,101,978	D1063V	probably damaging	Het
Noto	A	T	6: 85,424,345	R119W	possibly damaging	Het
Olfr1220	G	A	2: 89,097,229	L233F	probably benign	Het
Olfr147	A	T	9: 38,403,545	I224F	probably damaging	Het
Olfr573-ps1	A	T	7: 102,941,958	D206E	probably damaging	Het
Olfr816	T	A	10: 129,912,179	Y33F	probably damaging	Het
Ovch2	A	G	7: 107,794,377	W181R	probably damaging	Het
Palm	G	C	10: 79,819,283	G292R	probably damaging	Het
Pik3c2g	T	C	6: 139,896,184	S772P		Het
Prx	C	A	7: 27,517,986	D776E	probably benign	Het
Ptpra	A	G	2: 130,542,446	E562G	possibly damaging	Het
Rbm4b	A	G	19: 4,757,331	Y25C	probably damaging	Het
Reln	T	C	5: 21,931,429	T2534A	probably benign	Het
Rnf123	T	C	9: 108,077,764	S14G	probably benign	Het
Rock2	A	G	12: 16,965,601	H833R	probably benign	Het
Rxfp3	A	G	15: 11,037,025	V87A	possibly damaging	Het
S100b	G	A	10: 76,257,102	G23D	probably damaging	Het
Scn9a	T	A	2: 66,526,658	M1100L	probably benign	Het
Sept11	T	A	5: 93,148,407	S55T	possibly damaging	Het
Sv2b	T	A	7: 75,119,928	Q622L	probably benign	Het
Taar7a	T	C	10: 23,992,901	D194G	probably benign	Het
Trappc3	T	C	4: 126,275,221	I168T	probably benign	Het
Trim27	T	C	13: 21,190,126		probably null	Het
Wdr49	G	A	3: 75,397,052	T109I	probably benign	Het
Wdr64	T	C	1: 175,717,288	Y96H	probably damaging	Het
Zfp219	A	T	14: 52,009,592	L26Q	probably damaging	Het
Zfp758	T	A	17: 22,374,848	V105D	possibly damaging	Het
Zfp975	C	G	7: 42,662,908	E94Q	possibly damaging	Het
Zfyve9	C	T	4: 108,682,137	A289T	probably benign	Het
Zscan5b	T	C	7: 6,231,526	S184P	possibly damaging	Het

Other mutations in Pdgfrb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00553:Pdgfrb	APN	18	61068936	missense	probably benign	0.20
IGL01396:Pdgfrb	APN	18	61072664	missense	probably damaging	1.00
IGL02377:Pdgfrb	APN	18	61080332	missense	probably damaging	1.00
IGL02435:Pdgfrb	APN	18	61064926	critical splice donor site	probably null
IGL03397:Pdgfrb	APN	18	61079681	missense	probably benign	0.28
R0021:Pdgfrb	UTSW	18	61064926	critical splice donor site	probably benign
R0021:Pdgfrb	UTSW	18	61064926	critical splice donor site	probably benign
R0087:Pdgfrb	UTSW	18	61061513	missense	probably damaging	1.00
R0119:Pdgfrb	UTSW	18	61068852	missense	probably benign	0.06
R0299:Pdgfrb	UTSW	18	61068852	missense	probably benign	0.06
R0532:Pdgfrb	UTSW	18	61083265	missense	probably damaging	1.00
R0570:Pdgfrb	UTSW	18	61077703	missense	probably benign	0.00
R0629:Pdgfrb	UTSW	18	61078648	critical splice donor site	probably null
R0650:Pdgfrb	UTSW	18	61079708	missense	probably benign	0.00
R0853:Pdgfrb	UTSW	18	61080327	missense	probably damaging	1.00
R1165:Pdgfrb	UTSW	18	61064002	missense	probably benign	0.01
R1342:Pdgfrb	UTSW	18	61065880	nonsense	probably null
R1740:Pdgfrb	UTSW	18	61081833	missense	possibly damaging	0.93
R1808:Pdgfrb	UTSW	18	61068102	missense	probably benign
R1864:Pdgfrb	UTSW	18	61071717	missense	probably benign	0.00
R1960:Pdgfrb	UTSW	18	61065783	missense	probably benign	0.05
R1961:Pdgfrb	UTSW	18	61061505	missense	possibly damaging	0.49
R1970:Pdgfrb	UTSW	18	61066494	splice site	probably benign
R2011:Pdgfrb	UTSW	18	61061494	missense	probably benign	0.01
R2012:Pdgfrb	UTSW	18	61061494	missense	probably benign	0.01
R2018:Pdgfrb	UTSW	18	61083334	missense	possibly damaging	0.84
R2153:Pdgfrb	UTSW	18	61072756	missense	probably damaging	1.00
R2497:Pdgfrb	UTSW	18	61078628	missense	possibly damaging	0.58
R2846:Pdgfrb	UTSW	18	61064016	missense	probably benign	0.00
R3776:Pdgfrb	UTSW	18	61081920	missense	probably benign	0.00
R3779:Pdgfrb	UTSW	18	61072666	missense	probably damaging	1.00
R3816:Pdgfrb	UTSW	18	61078945	missense	probably damaging	1.00
R3978:Pdgfrb	UTSW	18	61073685	missense	probably damaging	1.00
R4259:Pdgfrb	UTSW	18	61077631	missense	probably benign	0.00
R4261:Pdgfrb	UTSW	18	61077631	missense	probably benign	0.00
R4327:Pdgfrb	UTSW	18	61071720	missense	possibly damaging	0.83
R4329:Pdgfrb	UTSW	18	61071720	missense	possibly damaging	0.83
R4598:Pdgfrb	UTSW	18	61068757	missense	probably benign	0.03
R4668:Pdgfrb	UTSW	18	61064113	missense	probably damaging	1.00
R4761:Pdgfrb	UTSW	18	61079700	missense	probably damaging	1.00
R4787:Pdgfrb	UTSW	18	61079687	missense	probably damaging	1.00
R4828:Pdgfrb	UTSW	18	61073243	missense	probably damaging	0.98
R5030:Pdgfrb	UTSW	18	61065135	missense	probably benign	0.13
R5033:Pdgfrb	UTSW	18	61077668	missense	probably damaging	1.00
R5447:Pdgfrb	UTSW	18	61068108	missense	probably damaging	1.00
R6224:Pdgfrb	UTSW	18	61081939	nonsense	probably null
R6807:Pdgfrb	UTSW	18	61078649	critical splice donor site	probably null
R6858:Pdgfrb	UTSW	18	61065147	missense	probably benign	0.01
R7017:Pdgfrb	UTSW	18	61081004	missense	probably benign	0.00
R7089:Pdgfrb	UTSW	18	61073243	missense	probably damaging	1.00
R7174:Pdgfrb	UTSW	18	61066515	missense	probably benign
R7374:Pdgfrb	UTSW	18	61071708	missense	possibly damaging	0.64
R7496:Pdgfrb	UTSW	18	61078932	missense	possibly damaging	0.71
R7565:Pdgfrb	UTSW	18	61083264	missense	probably damaging	1.00
R7615:Pdgfrb	UTSW	18	61064046	missense	probably benign	0.00
R7691:Pdgfrb	UTSW	18	61061268	missense	probably benign	0.05
R7884:Pdgfrb	UTSW	18	61072658	missense	probably damaging	1.00
R8481:Pdgfrb	UTSW	18	61065742	missense	probably benign	0.03
R8735:Pdgfrb	UTSW	18	61063977	missense	probably benign	0.26
R8737:Pdgfrb	UTSW	18	61081001	missense	probably damaging	1.00
R9067:Pdgfrb	UTSW	18	61068219	missense	probably null	0.93
R9106:Pdgfrb	UTSW	18	61046028	critical splice acceptor site	probably null
R9161:Pdgfrb	UTSW	18	61063981	missense	probably damaging	1.00
R9234:Pdgfrb	UTSW	18	61061228	missense	probably null	0.00
R9380:Pdgfrb	UTSW	18	61064848	missense	probably damaging	1.00
R9452:Pdgfrb	UTSW	18	61065726	missense	possibly damaging	0.77
R9491:Pdgfrb	UTSW	18	61078984	missense	probably damaging	1.00
R9646:Pdgfrb	UTSW	18	61078649	critical splice donor site	probably null
X0060:Pdgfrb	UTSW	18	61081976	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGCCATCTAAAGGTCTGGAC -3'
(R):5'- GGGTCCCATATCAGTCTTGG -3'

Sequencing Primer
(F):5'- TCTGGACCTGATAGGCTCAAG -3'
(R):5'- CATATCAGTCTTGGGATCCCTGAG -3'

Posted On

2022-10-06