Mutagenetix > Incidental Mutation

Incidental Mutation 'R1970:Pdgfrb'

219841

Institutional Source

Beutler Lab

Gene Symbol

Pdgfrb

Ensembl Gene

ENSMUSG00000024620

Gene Name

platelet derived growth factor receptor, beta polypeptide

Synonyms

CD140b, Pdgfr

MMRRC Submission

039983-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1970 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61178222-61218133 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 61199566 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 benign
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 benign
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

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

97% (121/125)

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: 121 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,526,549 (GRCm39)	H578Q	probably benign	Het
Abcc12	A	G	8: 87,253,910 (GRCm39)	I958T	probably benign	Het
Abcg5	AATCATTTG	AG	17: 84,981,030 (GRCm39)		probably null	Het
Acap2	A	G	16: 30,952,345 (GRCm39)		probably null	Het
Adgrb1	T	C	15: 74,411,726 (GRCm39)		probably benign	Het
Akap6	T	A	12: 52,985,258 (GRCm39)	V897E	probably damaging	Het
Als2	A	T	1: 59,254,328 (GRCm39)	L343Q	probably benign	Het
Arhgap5	A	G	12: 52,589,376 (GRCm39)	I1275M	probably damaging	Het
Arnt	C	T	3: 95,355,704 (GRCm39)	S16L	possibly damaging	Het
Bglap3	C	T	3: 88,284,300 (GRCm39)		probably benign	Het
Blnk	T	C	19: 40,928,609 (GRCm39)		probably benign	Het
C1qtnf4	T	C	2: 90,720,003 (GRCm39)	M92T	probably damaging	Het
Ccdc177	G	A	12: 80,805,486 (GRCm39)	R263C	unknown	Het
Ccdc83	T	A	7: 89,893,362 (GRCm39)	S132C	probably damaging	Het
Cdc7	A	G	5: 107,120,940 (GRCm39)		probably benign	Het
Cgnl1	T	A	9: 71,632,817 (GRCm39)	N178I	probably benign	Het
Col27a1	C	T	4: 63,191,354 (GRCm39)		probably benign	Het
Col5a1	A	T	2: 27,876,766 (GRCm39)	M822L	unknown	Het
Coro7	T	C	16: 4,451,620 (GRCm39)	I451V	probably benign	Het
Csmd3	T	C	15: 48,536,927 (GRCm39)	T92A	probably damaging	Het
Ddc	A	G	11: 11,765,292 (GRCm39)	V460A	possibly damaging	Het
Ddx4	C	T	13: 112,736,547 (GRCm39)	V608I	probably damaging	Het
Ddx60	A	T	8: 62,425,240 (GRCm39)	H676L	possibly damaging	Het
Dmtf1	T	C	5: 9,198,989 (GRCm39)	E48G	probably benign	Het
Dpf3	T	A	12: 83,371,809 (GRCm39)		probably null	Het
Dydc2	A	G	14: 40,783,860 (GRCm39)	C88R	probably benign	Het
Elovl4	A	G	9: 83,662,772 (GRCm39)	Y163H	probably damaging	Het
Enpp2	T	C	15: 54,746,378 (GRCm39)	D296G	probably damaging	Het
Fam83h	G	T	15: 75,878,419 (GRCm39)		probably benign	Het
Fbf1	T	A	11: 116,042,317 (GRCm39)	Q511L	possibly damaging	Het
Fhdc1	A	T	3: 84,362,158 (GRCm39)	L323Q	probably damaging	Het
Fmnl2	T	A	2: 52,995,588 (GRCm39)	V437D	possibly damaging	Het
Foxo3	A	G	10: 42,073,258 (GRCm39)	S420P	probably benign	Het
Foxp4	C	T	17: 48,186,796 (GRCm39)	R378Q	unknown	Het
Garem2	G	T	5: 30,322,172 (GRCm39)	G844*	probably null	Het
Glmp	T	C	3: 88,235,177 (GRCm39)	L269S	probably damaging	Het
Gm9915	T	C	1: 42,269,881 (GRCm39)		noncoding transcript	Het
Gnb4	A	T	3: 32,652,290 (GRCm39)	D27E	probably damaging	Het
Gnb5	A	G	9: 75,251,932 (GRCm39)		probably null	Het
Gpr161	T	G	1: 165,133,927 (GRCm39)	V63G	probably damaging	Het
Gsk3a	T	A	7: 24,929,146 (GRCm39)		probably benign	Het
Hapln2	T	C	3: 87,931,427 (GRCm39)		probably null	Het
Incenp	G	T	19: 9,862,851 (GRCm39)	T401N	unknown	Het
Kalrn	A	G	16: 33,797,894 (GRCm39)		probably null	Het
Kcnq3	A	G	15: 65,900,472 (GRCm39)		probably null	Het
Kif21b	T	C	1: 136,098,894 (GRCm39)	V1394A	probably damaging	Het
Klhl23	T	C	2: 69,664,030 (GRCm39)	C460R	probably damaging	Het
L3mbtl1	G	A	2: 162,801,492 (GRCm39)	A291T	probably damaging	Het
Lcp1	T	C	14: 75,437,946 (GRCm39)	S119P	probably damaging	Het
Ldhc	A	G	7: 46,519,175 (GRCm39)	I133V	probably benign	Het
Lmntd2	G	A	7: 140,791,972 (GRCm39)		probably benign	Het
Lpl	A	T	8: 69,349,454 (GRCm39)	K327*	probably null	Het
Lrp1b	T	C	2: 40,765,081 (GRCm39)	D2801G	probably damaging	Het
Mppe1	C	A	18: 67,362,843 (GRCm39)	A131S	probably benign	Het
Msh3	T	A	13: 92,386,328 (GRCm39)		probably benign	Het
Msh5	A	G	17: 35,252,576 (GRCm39)	I377T	probably damaging	Het
Myo1e	T	C	9: 70,276,055 (GRCm39)	F757L	probably benign	Het
Myof	A	T	19: 37,934,082 (GRCm39)	D955E	probably damaging	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Ncor2	T	C	5: 125,115,982 (GRCm39)	D858G	probably damaging	Het
Neb	A	T	2: 52,153,917 (GRCm39)	V2398D	possibly damaging	Het
Nefl	C	G	14: 68,324,121 (GRCm39)	T453R	probably benign	Het
Nf1	A	G	11: 79,444,787 (GRCm39)	N371D	probably benign	Het
Nhsl3	A	G	4: 129,119,810 (GRCm39)		probably benign	Het
Nlrp4f	T	C	13: 65,341,905 (GRCm39)	Y580C	probably damaging	Het
Nme8	A	C	13: 19,836,492 (GRCm39)	L228R	probably damaging	Het
Numa1	C	T	7: 101,658,529 (GRCm39)	A1605V	probably damaging	Het
Ofd1	T	C	X: 165,210,210 (GRCm39)	Y205C	probably benign	Het
Or2ag12	T	A	7: 106,276,877 (GRCm39)	N272I	probably damaging	Het
Or2d3b	G	A	7: 106,513,453 (GRCm39)	G16D	probably damaging	Het
Or4k77	C	T	2: 111,199,421 (GRCm39)	S148L	probably benign	Het
Or8g55	T	A	9: 39,785,234 (GRCm39)	I221N	probably damaging	Het
Or8k3	T	A	2: 86,058,596 (GRCm39)	T240S	probably damaging	Het
Pclo	A	G	5: 14,763,487 (GRCm39)	T3987A	unknown	Het
Pdxk	G	A	10: 78,276,988 (GRCm39)	T270I	probably damaging	Het
Pex5	T	C	6: 124,391,364 (GRCm39)	E10G	probably damaging	Het
Pik3c2g	T	A	6: 139,846,112 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,451,747 (GRCm39)	I2183F	probably damaging	Het
Plppr2	T	C	9: 21,852,422 (GRCm39)	V102A	probably damaging	Het
Plxnd1	T	C	6: 115,939,478 (GRCm39)	T1449A	probably damaging	Het
Pnkd	T	A	1: 74,325,069 (GRCm39)		probably null	Het
Pom121l2	A	G	13: 22,167,642 (GRCm39)	I638V	probably damaging	Het
Prag1	A	G	8: 36,596,314 (GRCm39)		probably null	Het
Ranbp10	A	G	8: 106,513,340 (GRCm39)	F191L	probably damaging	Het
Rapgef1	T	C	2: 29,623,723 (GRCm39)	L824P	probably damaging	Het
Rec8	T	C	14: 55,861,599 (GRCm39)	L418P	probably damaging	Het
Rimbp2	T	A	5: 128,874,305 (GRCm39)	N429Y	probably damaging	Het
Rpe65	C	A	3: 159,321,307 (GRCm39)	T373K	probably benign	Het
Rpl35rt	T	G	1: 156,194,017 (GRCm39)	*124G	probably null	Het
Rrn3	T	C	16: 13,606,938 (GRCm39)	S151P	probably damaging	Het
Scn7a	A	G	2: 66,514,633 (GRCm39)	V1047A	possibly damaging	Het
Scn9a	G	T	2: 66,345,724 (GRCm39)	P1123Q	probably damaging	Het
Secisbp2l	T	C	2: 125,589,430 (GRCm39)	D706G	probably damaging	Het
Serpina5	A	T	12: 104,070,116 (GRCm39)	T338S	probably benign	Het
Sez6	G	A	11: 77,844,894 (GRCm39)		probably null	Het
Shisa4	C	T	1: 135,300,012 (GRCm39)	G157D	probably damaging	Het
Slc1a7	G	T	4: 107,825,782 (GRCm39)	D14Y	probably benign	Het
Slc25a11	A	C	11: 70,536,999 (GRCm39)	L51V	probably benign	Het
Slit3	A	G	11: 35,521,668 (GRCm39)		probably null	Het
Spata13	G	T	14: 60,928,912 (GRCm39)	G157W	probably damaging	Het
Spta1	T	C	1: 174,067,933 (GRCm39)	V2120A	possibly damaging	Het
Srpra	T	C	9: 35,124,834 (GRCm39)		probably null	Het
Syt6	A	G	3: 103,494,736 (GRCm39)	I234V	probably benign	Het
Thada	G	T	17: 84,617,470 (GRCm39)	P1349T	probably damaging	Het
Tmem161a	C	T	8: 70,629,559 (GRCm39)	R58W	probably damaging	Het
Top3b	A	G	16: 16,701,383 (GRCm39)	I232V	probably damaging	Het
Tspan1	T	A	4: 116,020,826 (GRCm39)	Q197L	possibly damaging	Het
Ttc28	A	C	5: 111,383,501 (GRCm39)	Y1334S	probably benign	Het
Ubxn6	G	T	17: 56,380,077 (GRCm39)	N28K	possibly damaging	Het
Uggt1	T	C	1: 36,190,862 (GRCm39)	D1366G	probably damaging	Het
Ugp2	A	G	11: 21,278,942 (GRCm39)	S415P	probably damaging	Het
Vcan	A	T	13: 89,837,157 (GRCm39)	S2796T	probably damaging	Het
Vipr2	T	C	12: 116,099,826 (GRCm39)	V231A	probably benign	Het
Vmn1r176	T	C	7: 23,534,373 (GRCm39)	N260S	probably benign	Het
Vmn1r59	A	T	7: 5,457,038 (GRCm39)	Y241N	probably damaging	Het
Vmn2r67	A	T	7: 84,801,013 (GRCm39)	Y308N	probably benign	Het
Vmn2r75	A	T	7: 85,797,470 (GRCm39)	M781K	probably damaging	Het
Vwa3a	A	T	7: 120,379,394 (GRCm39)	I500F	probably damaging	Het
Zfp609	A	G	9: 65,702,559 (GRCm39)	V31A	probably damaging	Het
Zfp689	G	T	7: 127,043,959 (GRCm39)	Q224K	probably damaging	Het
Zfp81	A	T	17: 33,554,475 (GRCm39)	L113H	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GTAGTTTAGGGGAACTGGCC -3'
(R):5'- AAATGTAGCCTCGTGGGTTCC -3'

Sequencing Primer
(F):5'- AACTGGCCGTGGCTGAG -3'
(R):5'- GGTTCCGGGCCCTTTGTC -3'

Posted On

2014-08-25