Mutagenetix > Incidental Mutation

Incidental Mutation 'R4828:Pdgfrb'

430197

Institutional Source

Beutler Lab

Gene Symbol

Pdgfrb

Ensembl Gene

ENSMUSG00000024620

Gene Name

platelet derived growth factor receptor, beta polypeptide

Synonyms

CD140b, Pdgfr

MMRRC Submission

042444-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4828 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61178222-61218133 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 61206315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 608 (R608S)

Ref Sequence

ENSEMBL: ENSMUSP00000110929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025522] [ENSMUST00000115274]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000025522
AA Change: R604S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025522
Gene: ENSMUSG00000024620
AA Change: R604S

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 damaging
Transcript: ENSMUST00000115274
AA Change: R608S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110929
Gene: ENSMUSG00000024620
AA Change: R608S

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

0.5146

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (106/108)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,815,470 (GRCm39)	R239S	probably damaging	Het
Adat3	T	C	10: 80,442,881 (GRCm39)	S240P	probably benign	Het
Agbl5	G	A	5: 31,048,059 (GRCm39)	R111H	probably damaging	Het
Alg2	A	G	4: 47,471,563 (GRCm39)	V415A	probably benign	Het
Alpk2	T	C	18: 65,482,184 (GRCm39)	E141G	probably benign	Het
Ampd1	A	C	3: 102,988,413 (GRCm39)	T115P	probably damaging	Het
Ankrd12	A	G	17: 66,291,632 (GRCm39)	L1267P	probably damaging	Het
Arfgef3	A	T	10: 18,528,441 (GRCm39)	S315R	probably damaging	Het
Atp10d	A	C	5: 72,396,461 (GRCm39)	D222A	probably benign	Het
B9d1	A	G	11: 61,398,461 (GRCm39)	E47G	probably damaging	Het
Bag2	T	C	1: 33,785,968 (GRCm39)	D118G	probably damaging	Het
Bnip3l	G	T	14: 67,246,208 (GRCm39)	P9Q	probably damaging	Het
Casp8ap2	A	G	4: 32,639,807 (GRCm39)	N287S	probably benign	Het
Ccdc190	A	G	1: 169,761,465 (GRCm39)	D189G	probably damaging	Het
Ccdc88a	A	G	11: 29,413,210 (GRCm39)	K583E	probably damaging	Het
Cd84	A	T	1: 171,700,315 (GRCm39)	N144I	probably damaging	Het
Chrnd	A	G	1: 87,119,293 (GRCm39)		probably benign	Het
Clca3b	G	T	3: 144,550,273 (GRCm39)	T224K	probably benign	Het
Crcp	A	G	5: 130,088,603 (GRCm39)	T119A	probably damaging	Het
Cul2	T	C	18: 3,431,013 (GRCm39)	Y596H	probably damaging	Het
Dip2c	T	A	13: 9,610,715 (GRCm39)	W356R	probably damaging	Het
Dlc1	T	A	8: 37,317,400 (GRCm39)	Q425L	possibly damaging	Het
Dnah7b	T	A	1: 46,167,272 (GRCm39)	V588D	possibly damaging	Het
Dock4	G	T	12: 40,718,436 (GRCm39)	G245W	probably damaging	Het
Dpf3	A	G	12: 83,341,273 (GRCm39)	I160T	possibly damaging	Het
Dstyk	A	G	1: 132,361,875 (GRCm39)	T102A	probably benign	Het
Eif3d	A	T	15: 77,844,229 (GRCm39)	L425*	probably null	Het
Elac2	A	G	11: 64,886,153 (GRCm39)	E477G	probably damaging	Het
Ephb3	G	A	16: 21,033,745 (GRCm39)	R23H	possibly damaging	Het
Exd1	C	T	2: 119,350,807 (GRCm39)	A485T	probably benign	Het
Ext2	G	A	2: 93,626,112 (GRCm39)	T316I	probably benign	Het
Fbf1	A	G	11: 116,039,777 (GRCm39)	V694A	probably benign	Het
Fgg	G	A	3: 82,915,677 (GRCm39)		probably benign	Het
Flnb	G	A	14: 7,919,238 (GRCm38)	V1664I	probably benign	Het
Flnc	G	A	6: 29,455,166 (GRCm39)	D1932N	probably damaging	Het
Gm1818	A	T	12: 48,602,409 (GRCm39)		noncoding transcript	Het
Gnai1	G	A	5: 18,496,470 (GRCm39)	S151L	probably damaging	Het
Golph3l	G	A	3: 95,499,059 (GRCm39)	R67H	possibly damaging	Het
Grk5	T	A	19: 60,976,213 (GRCm39)	C42*	probably null	Het
Herc1	G	A	9: 66,404,625 (GRCm39)		probably null	Het
Hey2	A	T	10: 30,710,179 (GRCm39)	H191Q	possibly damaging	Het
Il11	A	G	7: 4,779,481 (GRCm39)	V8A	probably benign	Het
Il23r	G	A	6: 67,408,635 (GRCm39)	P402L	probably benign	Het
Irf5	A	G	6: 29,531,140 (GRCm39)	N2S	probably damaging	Het
Lamb1	T	C	12: 31,348,929 (GRCm39)	Y606H	probably benign	Het
Larp4b	C	T	13: 9,220,934 (GRCm39)	R650C	probably damaging	Het
Lrpap1	T	C	5: 35,259,765 (GRCm39)	E111G	possibly damaging	Het
Lrrc36	T	A	8: 106,181,862 (GRCm39)	S388T	probably benign	Het
Med27	T	C	2: 29,267,950 (GRCm39)		probably benign	Het
Mrc1	T	G	2: 14,275,017 (GRCm39)	D439E	probably damaging	Het
Notch4	A	T	17: 34,789,034 (GRCm39)	E444D	probably damaging	Het
Nrm	G	A	17: 36,175,082 (GRCm39)	V137I	possibly damaging	Het
Nxpe5	T	A	5: 138,228,795 (GRCm39)	L4Q	possibly damaging	Het
Obscn	A	G	11: 58,977,496 (GRCm39)	V2052A	possibly damaging	Het
Oc90	A	T	15: 65,753,408 (GRCm39)	Y304N	probably damaging	Het
Or13f5	T	C	4: 52,826,138 (GRCm39)	V247A	probably damaging	Het
Or52d3	T	A	7: 104,229,180 (GRCm39)	F109Y	possibly damaging	Het
Or5p1	T	C	7: 107,916,677 (GRCm39)	V192A	probably benign	Het
Or8b101	T	C	9: 38,020,036 (GRCm39)	I13T	probably damaging	Het
Or8k1	T	A	2: 86,047,877 (GRCm39)	H59L	possibly damaging	Het
Parp10	A	T	15: 76,127,281 (GRCm39)	I52N	probably benign	Het
Pecam1	A	G	11: 106,590,634 (GRCm39)	C47R	probably damaging	Het
Pirb	C	T	7: 3,720,602 (GRCm39)	G299S	probably benign	Het
Pkhd1l1	A	G	15: 44,392,801 (GRCm39)	E1712G	possibly damaging	Het
Plce1	T	C	19: 38,757,943 (GRCm39)	I1958T	probably damaging	Het
Plch2	C	T	4: 155,069,092 (GRCm39)	R1073Q	probably benign	Het
Pld5	A	C	1: 176,102,433 (GRCm39)	I3S	probably benign	Het
Polr1a	T	C	6: 71,943,385 (GRCm39)	W1207R	possibly damaging	Het
Polr2m	T	G	9: 71,391,050 (GRCm39)	I51L	possibly damaging	Het
Ppl	G	A	16: 4,922,790 (GRCm39)	R234C	probably damaging	Het
Ppp1r42	C	T	1: 10,069,636 (GRCm39)	R142H	probably benign	Het
Prokr1	A	G	6: 87,558,224 (GRCm39)	V387A	probably benign	Het
Prss23	A	T	7: 89,159,108 (GRCm39)	Y320*	probably null	Het
Ptprk	A	T	10: 28,436,050 (GRCm39)	M804L	probably damaging	Het
Rdh16f2	A	G	10: 127,710,823 (GRCm39)	S147G	probably benign	Het
Rgs7bp	T	C	13: 105,189,532 (GRCm39)	H89R	possibly damaging	Het
Rilpl2	G	T	5: 124,607,875 (GRCm39)	T115K	possibly damaging	Het
Rnf212	G	A	5: 108,877,334 (GRCm39)	S153F	probably damaging	Het
Rnf213	A	G	11: 119,307,455 (GRCm39)	D705G	possibly damaging	Het
Selenbp2	A	G	3: 94,611,426 (GRCm39)	N379S	probably benign	Het
Sema3e	G	A	5: 14,276,654 (GRCm39)	V312M	probably damaging	Het
Sh2d5	T	A	4: 137,985,566 (GRCm39)	L338Q	probably damaging	Het
Shank3	A	G	15: 89,384,402 (GRCm39)		probably benign	Het
Skor2	G	T	18: 76,948,113 (GRCm39)	G612C	probably damaging	Het
Slc22a16	A	G	10: 40,449,636 (GRCm39)	Y24C	probably damaging	Het
Slc4a1ap	T	A	5: 31,688,053 (GRCm39)	Y312*	probably null	Het
Slc5a7	A	T	17: 54,583,827 (GRCm39)	F488I	probably benign	Het
Snrnp200	A	G	2: 127,053,527 (GRCm39)	D130G	probably damaging	Het
Sorbs2	T	A	8: 46,194,652 (GRCm39)		probably benign	Het
Tmem91	T	G	7: 25,368,803 (GRCm39)	T161P	probably damaging	Het
Tpd52l1	G	A	10: 31,222,697 (GRCm39)	T99M	probably damaging	Het
Trps1	A	G	15: 50,524,073 (GRCm39)	*1036Q	probably null	Het
Tshr	A	T	12: 91,504,564 (GRCm39)	T501S	probably damaging	Het
Tubgcp3	T	C	8: 12,721,987 (GRCm39)	N15S	probably benign	Het
Unc5b	A	G	10: 60,608,127 (GRCm39)	S669P	possibly damaging	Het
Zfp970	A	G	2: 177,167,146 (GRCm39)	E240G	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
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'- ATGCAGGATCTAGAGGAGACCC -3'
(R):5'- AGGAGGAAGAAGCACCCTTC -3'

Sequencing Primer
(F):5'- CCAGAGGATGGGAAACTTCC -3'
(R):5'- TTCGGTCCCACAACCTCAGG -3'

Posted On

2016-09-16