Mutagenetix > Incidental Mutation

Incidental Mutation 'R4259:Pdgfrb'

322587

Institutional Source

Beutler Lab

Gene Symbol

Pdgfrb

Ensembl Gene

ENSMUSG00000024620

Gene Name

platelet derived growth factor receptor, beta polypeptide

Synonyms

CD140b, Pdgfr

MMRRC Submission

041072-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4259 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61178222-61218133 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 61210703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 737 (T737P)

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: T733P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000025522
Gene: ENSMUSG00000024620
AA Change: T733P

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: T737P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110929
Gene: ENSMUSG00000024620
AA Change: T737P

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

0.0645

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (40/41)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,214,066 (GRCm39)	S298P	probably damaging	Het
4930407I10Rik	A	G	15: 81,947,927 (GRCm39)	D608G	possibly damaging	Het
Actr10	T	C	12: 70,999,759 (GRCm39)	V185A	probably benign	Het
Cd248	A	G	19: 5,118,866 (GRCm39)	D238G	probably damaging	Het
Cep290	A	C	10: 100,350,354 (GRCm39)	E649D	probably damaging	Het
Cyp2b19	G	A	7: 26,462,807 (GRCm39)	G230S	probably damaging	Het
Dnah12	A	G	14: 26,520,883 (GRCm39)	I1901V	probably benign	Het
Garin1b	C	G	6: 29,320,800 (GRCm39)	I141M	probably damaging	Het
Gpr171	A	G	3: 59,004,948 (GRCm39)	S276P	probably damaging	Het
Hap1	C	A	11: 100,242,668 (GRCm39)		probably null	Het
Hcn1	A	T	13: 118,111,884 (GRCm39)	K616M	unknown	Het
Igkv4-90	T	C	6: 68,784,461 (GRCm39)	I18M	possibly damaging	Het
Itpr3	T	A	17: 27,325,298 (GRCm39)	V1297E	probably damaging	Het
Kmt2b	T	C	7: 30,280,506 (GRCm39)	N1319D	probably damaging	Het
Krt72	T	C	15: 101,686,692 (GRCm39)	E418G	probably damaging	Het
Lama1	T	C	17: 68,059,413 (GRCm39)	S599P	possibly damaging	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Lrrk1	A	T	7: 65,980,512 (GRCm39)	Y223N	probably damaging	Het
Or5p57	T	A	7: 107,665,100 (GRCm39)	K272*	probably null	Het
Or8g50	A	T	9: 39,648,999 (GRCm39)	D296V	probably damaging	Het
Or8k30	A	G	2: 86,339,343 (GRCm39)	D180G	probably damaging	Het
Pde6c	G	A	19: 38,151,293 (GRCm39)	G608S	probably damaging	Het
Pdk2	T	C	11: 94,931,970 (GRCm39)	D38G	probably benign	Het
Pgk2	T	G	17: 40,518,274 (GRCm39)	T385P	probably benign	Het
Prl3b1	T	C	13: 27,427,889 (GRCm39)		probably null	Het
Sat1	T	C	X: 153,998,182 (GRCm39)		probably benign	Het
Sgo2b	A	T	8: 64,381,330 (GRCm39)	F501I	probably benign	Het
Sgsm2	T	A	11: 74,782,854 (GRCm39)	H34L	probably damaging	Het
Slc26a1	T	A	5: 108,820,496 (GRCm39)	K250N	probably damaging	Het
Slc38a4	A	G	15: 96,896,374 (GRCm39)	Y498H	probably damaging	Het
Slc5a4b	A	G	10: 75,939,686 (GRCm39)	L150P	probably damaging	Het
Tbc1d32	A	G	10: 55,925,867 (GRCm39)	S1093P	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
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

Predicted Primers

PCR Primer
(F):5'- GCCACACAGGTTAGTTGAAGGG -3'
(R):5'- AAGGAAGACATTGCTGTGCG -3'

Sequencing Primer
(F):5'- GGGTTTGGTTCACAGTCATTCACAC -3'
(R):5'- AAGGAAGACATTGCTGTGCGTATTG -3'

Posted On

2015-06-20