Mutagenetix > Incidental Mutation

Incidental Mutation 'R2018:Pdgfrb'

223567

Institutional Source

Beutler Lab

Gene Symbol

Pdgfrb

Ensembl Gene

ENSMUSG00000024620

Gene Name

platelet derived growth factor receptor, beta polypeptide

Synonyms

CD140b, Pdgfr

MMRRC Submission

040027-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2018 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61178222-61218133 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61216406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1088 (D1088V)

Ref Sequence

ENSEMBL: ENSMUSP00000110929 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025522
AA Change: D1084V

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025522
Gene: ENSMUSG00000024620
AA Change: D1084V

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

possibly damaging
Transcript: ENSMUST00000115274
AA Change: D1088V

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110929
Gene: ENSMUSG00000024620
AA Change: D1088V

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.9%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	A	10: 76,293,899 (GRCm39)	F252L	possibly damaging	Het
4930447A16Rik	T	G	15: 37,440,742 (GRCm39)		probably benign	Het
Abca14	A	T	7: 119,815,408 (GRCm39)	M219L	probably benign	Het
Abi3bp	A	G	16: 56,498,159 (GRCm39)	T918A	probably damaging	Het
Acss3	C	T	10: 106,772,068 (GRCm39)	S669N	probably benign	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adamtsl4	A	G	3: 95,588,412 (GRCm39)	Y559H	probably damaging	Het
Adgrg5	T	A	8: 95,661,108 (GRCm39)	M106K	probably damaging	Het
Akt1	T	C	12: 112,626,059 (GRCm39)	N71S	probably damaging	Het
Amer2	A	C	14: 60,615,894 (GRCm39)	K30Q	probably damaging	Het
Anapc5	T	C	5: 122,938,587 (GRCm39)	K383E	probably damaging	Het
Ano1	A	G	7: 144,207,987 (GRCm39)	L258P	probably damaging	Het
Arb2a	A	G	13: 78,147,756 (GRCm39)	T321A	possibly damaging	Het
Arhgef10l	A	G	4: 140,271,695 (GRCm39)	S560P	probably damaging	Het
Arhgef40	T	A	14: 52,241,162 (GRCm39)	L1395Q	probably damaging	Het
Arid1a	A	T	4: 133,409,145 (GRCm39)	D1787E	unknown	Het
Ces2h	T	C	8: 105,745,030 (GRCm39)	L388P	probably damaging	Het
Cfap54	T	A	10: 92,852,466 (GRCm39)	N880I	probably benign	Het
Cryz	T	C	3: 154,327,320 (GRCm39)	V116A	probably damaging	Het
Csrp1	G	A	1: 135,678,366 (GRCm39)	A159T	probably damaging	Het
Cttnbp2	A	G	6: 18,434,517 (GRCm39)	F447S	probably damaging	Het
Cyp4a12a	A	T	4: 115,184,702 (GRCm39)	I328F	probably damaging	Het
Cyth4	T	G	15: 78,492,371 (GRCm39)	H133Q	probably damaging	Het
Ddah2	A	G	17: 35,279,402 (GRCm39)	I88V	possibly damaging	Het
Dmbt1	T	G	7: 130,712,718 (GRCm39)	I1563S	possibly damaging	Het
Dnajc22	T	C	15: 98,999,114 (GRCm39)	S100P	probably benign	Het
Fancl	T	A	11: 26,372,459 (GRCm39)	D123E	probably damaging	Het
Fbxo30	A	G	10: 11,166,772 (GRCm39)	Q498R	probably damaging	Het
Fgd4	T	C	16: 16,253,824 (GRCm39)	H581R	probably benign	Het
Gm2663	T	C	6: 40,974,900 (GRCm39)	Q57R	probably benign	Het
Gm7247	A	T	14: 51,602,804 (GRCm39)	M47L	possibly damaging	Het
Gsdmc2	T	A	15: 63,699,975 (GRCm39)		probably null	Het
Hc	A	C	2: 34,903,540 (GRCm39)	F1038C	probably damaging	Het
Heatr1	C	A	13: 12,429,359 (GRCm39)	Q890K	possibly damaging	Het
Hipk4	C	A	7: 27,228,429 (GRCm39)	T293K	probably damaging	Het
Hp1bp3	C	A	4: 137,948,943 (GRCm39)	A2E	probably damaging	Het
Il6	T	C	5: 30,219,945 (GRCm39)		probably null	Het
Itga6	A	G	2: 71,648,828 (GRCm39)	D104G	probably benign	Het
Krt24	A	G	11: 99,173,277 (GRCm39)	S293P	probably damaging	Het
Krt4	C	T	15: 101,829,086 (GRCm39)	R309Q	probably damaging	Het
Krt40	A	T	11: 99,430,913 (GRCm39)	W199R	probably damaging	Het
Lamc1	T	C	1: 153,118,378 (GRCm39)	E931G	probably benign	Het
Lamp3	A	T	16: 19,519,961 (GRCm39)	M74K	probably benign	Het
Lgalsl2	A	G	7: 5,362,573 (GRCm39)	D68G	probably benign	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Marchf7	T	A	2: 60,059,384 (GRCm39)	Y37*	probably null	Het
Mrpl36	A	G	13: 73,479,687 (GRCm39)	K66E	probably damaging	Het
Mrps35	G	T	6: 146,962,982 (GRCm39)	E229*	probably null	Het
Mtmr6	T	C	14: 60,536,441 (GRCm39)	M557T	probably benign	Het
Myocd	A	T	11: 65,077,854 (GRCm39)	I647N	probably damaging	Het
Myom2	A	C	8: 15,181,151 (GRCm39)	L1350F	probably damaging	Het
Nhsl3	A	G	4: 129,116,148 (GRCm39)	S884P	probably damaging	Het
Nosip	T	A	7: 44,726,033 (GRCm39)	S197T	probably benign	Het
Npat	A	G	9: 53,473,791 (GRCm39)	K528E	probably benign	Het
Nyap2	A	G	1: 81,169,587 (GRCm39)	T115A	probably benign	Het
Obi1	T	A	14: 104,759,978 (GRCm39)	K24M	probably damaging	Het
Or10al6	A	G	17: 38,083,467 (GRCm39)	R317G	probably benign	Het
Or4a72	A	G	2: 89,405,737 (GRCm39)	V111A	probably damaging	Het
Or4c109	G	T	2: 88,818,489 (GRCm39)	P19Q	probably benign	Het
Or51b6	T	A	7: 103,556,249 (GRCm39)	V201D	possibly damaging	Het
Or5m3	A	T	2: 85,838,567 (GRCm39)	Y149F	probably damaging	Het
Or8g55	A	G	9: 39,785,354 (GRCm39)	Q261R	probably benign	Het
Orc1	T	C	4: 108,447,897 (GRCm39)	V48A	possibly damaging	Het
Pde6d	T	C	1: 86,474,438 (GRCm39)	E69G	probably damaging	Het
Peg12	A	G	7: 62,113,386 (GRCm39)	V237A	probably benign	Het
Phf8-ps	T	C	17: 33,285,941 (GRCm39)	N287S	probably benign	Het
Piezo1	A	G	8: 123,209,451 (GRCm39)	F2371L	probably benign	Het
Podn	T	A	4: 107,880,570 (GRCm39)	S27C	probably damaging	Het
Pom121l2	A	G	13: 22,166,904 (GRCm39)	M392V	possibly damaging	Het
Ppm1b	A	G	17: 85,301,630 (GRCm39)	K170R	probably damaging	Het
Rab18	A	T	18: 6,770,113 (GRCm39)		probably null	Het
Raet1d	G	A	10: 22,246,911 (GRCm39)	A80T	probably damaging	Het
Rfx7	T	A	9: 72,524,967 (GRCm39)	V719E	probably benign	Het
Ror1	C	T	4: 100,265,038 (GRCm39)	Q171*	probably null	Het
Rufy4	G	A	1: 74,180,106 (GRCm39)	V454M	possibly damaging	Het
Ryr2	C	T	13: 11,866,074 (GRCm39)	G292D	possibly damaging	Het
Ryr3	G	T	2: 112,611,410 (GRCm39)	N2257K	probably benign	Het
Saal1	A	G	7: 46,348,913 (GRCm39)	F306S	possibly damaging	Het
Sap18	A	G	14: 58,036,021 (GRCm39)	N69S	probably damaging	Het
Sar1b	A	T	11: 51,670,514 (GRCm39)		probably null	Het
Serpina3n	G	T	12: 104,375,473 (GRCm39)	V182L	probably damaging	Het
Setd3	A	T	12: 108,084,513 (GRCm39)	H279Q	probably damaging	Het
Slc18a2	C	A	19: 59,264,937 (GRCm39)	A307E	possibly damaging	Het
Slc4a10	A	T	2: 62,064,725 (GRCm39)	D193V	probably damaging	Het
Spire2	T	C	8: 124,059,657 (GRCm39)	C52R	probably damaging	Het
Syne2	A	T	12: 76,121,353 (GRCm39)	I5940F	probably damaging	Het
Sytl1	C	T	4: 132,983,471 (GRCm39)	S355N	probably damaging	Het
Tarbp1	C	T	8: 127,154,853 (GRCm39)	V1424I	probably damaging	Het
Tatdn3	A	T	1: 190,781,477 (GRCm39)		probably null	Het
Tbpl1	T	A	10: 22,583,576 (GRCm39)	E131D	probably damaging	Het
Telo2	A	T	17: 25,324,382 (GRCm39)	M501K	probably damaging	Het
Terb1	A	G	8: 105,179,331 (GRCm39)	V619A	probably benign	Het
Tmem132e	A	G	11: 82,335,989 (GRCm39)	T1024A	probably benign	Het
Tmem30a	T	C	9: 79,681,500 (GRCm39)	D223G	probably damaging	Het
Tmprss11d	A	G	5: 86,487,413 (GRCm39)	V19A	probably damaging	Het
Tnks	A	T	8: 35,318,260 (GRCm39)	S872T	probably damaging	Het
Tnxb	A	G	17: 34,890,724 (GRCm39)	S356G	probably benign	Het
Tob2	T	C	15: 81,735,400 (GRCm39)	K190E	probably damaging	Het
Togaram1	T	C	12: 65,049,433 (GRCm39)	V1240A	possibly damaging	Het
Trim13	T	A	14: 61,842,335 (GRCm39)	C117*	probably null	Het
Trpv4	G	A	5: 114,772,666 (GRCm39)	R308C	probably damaging	Het
Ttn	C	G	2: 76,585,676 (GRCm39)	D21987H	probably damaging	Het
Ttn	C	A	2: 76,656,418 (GRCm39)		probably null	Het
Upp1	A	T	11: 9,083,240 (GRCm39)	M111L	possibly damaging	Het
Vmn1r206	A	T	13: 22,804,358 (GRCm39)	V283E	probably damaging	Het
Vmn2r79	G	T	7: 86,651,634 (GRCm39)	L344F	probably benign	Het
Vmn2r93	T	G	17: 18,546,324 (GRCm39)	I732S	probably damaging	Het
Vmn2r96	G	T	17: 18,804,263 (GRCm39)	M504I	probably benign	Het
Vps39	T	C	2: 120,173,708 (GRCm39)	Y147C	probably damaging	Het
Zbtb20	T	A	16: 43,398,015 (GRCm39)	C35S	possibly damaging	Het
Zfp871	A	T	17: 32,993,751 (GRCm39)	C475S	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
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'- GGCCTCTCAGTGTGTAAAGACAAC -3'
(R):5'- CTGCAAACCAAGGGCTTTCC -3'

Sequencing Primer
(F):5'- CACGGAAACCTCTTAGATAATGCTG -3'
(R):5'- CTTTCCTCGAGGGGACAGCTTG -3'

Posted On

2014-08-25