Mutagenetix > Incidental Mutations

Incidental Mutation 'R0331:Pdgfra'

26042

Institutional Source

Beutler Lab

Gene Symbol

Pdgfra

Ensembl Gene

ENSMUSG00000029231

Gene Name

platelet derived growth factor receptor, alpha polypeptide

Synonyms

Pdgfr-2, CD140a

MMRRC Submission

038540-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0331 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75152292-75198215 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75195052 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1074 (D1074E)

Ref Sequence

ENSEMBL: ENSMUSP00000127173 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000476] [ENSMUST00000168162]

Predicted Effect

probably damaging
Transcript: ENSMUST00000000476
AA Change: D1074E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000476
Gene: ENSMUSG00000029231
AA Change: D1074E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
IG	34	122	6.07e-3	SMART
IG_like	135	206	1.7e1	SMART
IGc2	226	297	8.72e-4	SMART
IG	322	414	2.86e0	SMART
transmembrane domain	527	549	N/A	INTRINSIC
TyrKc	593	950	8.51e-141	SMART
Blast:TyrKc	960	991	3e-8	BLAST
low complexity region	1063	1082	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000168162
AA Change: D1074E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127173
Gene: ENSMUSG00000029231
AA Change: D1074E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
IG	34	122	6.07e-3	SMART
IG_like	135	206	1.7e1	SMART
IGc2	226	297	8.72e-4	SMART
IG	322	414	2.86e0	SMART
transmembrane domain	527	549	N/A	INTRINSIC
TyrKc	593	950	8.51e-141	SMART
Blast:TyrKc	960	991	3e-8	BLAST
low complexity region	1063	1082	N/A	INTRINSIC

Meta Mutation Damage Score

0.0883

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.8%
20x: 91.7%

Validation Efficiency

100% (81/81)

MGI Phenotype

FUNCTION: This gene encodes a member of the receptor tyrosine kinase family of proteins. Binding of platelet-derived growth factor protein ligands to this receptor triggers receptor dimerization and autophosphorylation, resulting in the activation of several downstream signaling pathways. Signaling through the encoded receptor plays a role in gastrulation and the development of nearly all organ systems. Mice lacking a functional copy of this gene reportedly exhibit defects in lung, skeleton, testis and the central nervous system, and die soon after birth. Alternative splicing and intronic polyadenylation of gene transcripts have been implicated in muscle regeneration and fibrosis in adult mice. [provided by RefSeq, Jan 2017]
PHENOTYPE: Homozygotes for targeted null mutations exhibit incomplete cephalic closure, increased apoptosis of neural crest cells, impaired myotome and testis formation, abnormal mucosal linings, thoracic skeletal defects, and midgestational lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	A	8: 79,229,392	T79S	probably benign	Het
Abtb1	T	C	6: 88,840,702		probably benign	Het
Acot12	G	A	13: 91,760,064		probably null	Het
Adamts4	T	A	1: 171,250,972	S54T	probably benign	Het
Adgrl4	T	C	3: 151,497,940	S96P	probably benign	Het
Aip	G	T	19: 4,118,247	T40K	probably damaging	Het
Anapc4	A	G	5: 52,855,642		probably benign	Het
Asz1	A	G	6: 18,103,619		probably benign	Het
Atf7ip	A	G	6: 136,561,163	T465A	possibly damaging	Het
Atp11a	C	T	8: 12,816,953	Q127*	probably null	Het
Axin1	A	G	17: 26,143,107	R142G	probably damaging	Het
B230359F08Rik	A	G	14: 53,795,748	N38S	probably benign	Het
Bcat1	T	A	6: 145,047,314	E86V	probably benign	Het
Brd4	G	A	17: 32,202,515	P749L	probably benign	Het
C1ra	G	A	6: 124,519,435		probably null	Het
Capza2	A	T	6: 17,665,103	N237I	probably benign	Het
Cd2ap	A	T	17: 42,805,301	V556E	probably benign	Het
Cfap65	G	A	1: 74,929,301	P124L	probably damaging	Het
Cfap65	G	T	1: 74,929,302	P124T	probably damaging	Het
Cftr	T	C	6: 18,235,226	V488A	possibly damaging	Het
Ckmt1	A	T	2: 121,362,856		probably null	Het
Cmya5	T	G	13: 93,144,403	E35A	possibly damaging	Het
Col7a1	A	G	9: 108,967,502		probably benign	Het
Crmp1	C	T	5: 37,265,313	L155F	possibly damaging	Het
Cyp2d10	T	A	15: 82,407,026	T33S	probably benign	Het
Dhdh	T	C	7: 45,488,120	K48E	probably benign	Het
Dlst	T	C	12: 85,118,812	V103A	probably damaging	Het
Dohh	C	T	10: 81,387,812	T233I	probably benign	Het
Dvl2	C	A	11: 70,006,217		probably benign	Het
Eipr1	C	T	12: 28,864,704	Q286*	probably null	Het
Enpp6	C	A	8: 47,082,449	T343K	probably damaging	Het
Fbxw11	T	A	11: 32,711,895	F112I	probably damaging	Het
Gdpd4	T	A	7: 97,973,008	N231K	probably benign	Het
Gm6370	A	T	5: 146,493,766	T254S	probably benign	Het
Hapln4	G	T	8: 70,084,509	Q31H	probably damaging	Het
Hic1	T	A	11: 75,165,490	T858S	possibly damaging	Het
Isg20l2	T	C	3: 87,931,785	L101P	probably damaging	Het
Itga10	T	C	3: 96,652,483	Y485H	probably damaging	Het
Itgal	T	A	7: 127,306,681		probably null	Het
Itln1	T	C	1: 171,531,549	N62S	probably damaging	Het
Kdm4b	T	C	17: 56,386,289		probably benign	Het
Lct	T	C	1: 128,298,742		probably benign	Het
Lman2	A	T	13: 55,353,016	H123Q	probably damaging	Het
Lztr1	T	A	16: 17,524,237		probably benign	Het
Myo3b	G	T	2: 70,095,261	G24V	probably damaging	Het
Nacad	T	A	11: 6,599,441	Q1250L	possibly damaging	Het
Ncor2	A	T	5: 125,084,917	M431K	unknown	Het
Nek9	T	A	12: 85,327,375		probably benign	Het
Neu1	C	A	17: 34,934,170	N255K	possibly damaging	Het
Nf2	T	A	11: 4,794,914	T75S	probably benign	Het
Nipal4	T	A	11: 46,150,213	D385V	probably damaging	Het
Olah	T	A	2: 3,342,474	N245I	probably damaging	Het
Olfr474	G	T	7: 107,954,870	L76F	probably benign	Het
Pag1	T	A	3: 9,701,970	T90S	probably benign	Het
Pald1	A	G	10: 61,340,929		probably null	Het
Parva	A	G	7: 112,544,798	M98V	probably benign	Het
Paxbp1	T	A	16: 91,037,367	D177V	possibly damaging	Het
Paxip1	A	G	5: 27,765,232	I587T	probably damaging	Het
Pclo	T	C	5: 14,680,376		probably benign	Het
Pef1	A	T	4: 130,127,448	D265V	probably damaging	Het
Plekhh2	G	A	17: 84,586,366	E870K	possibly damaging	Het
Plscr4	G	A	9: 92,482,642	G40D	probably damaging	Het
Psg18	A	G	7: 18,353,308	Y142H	probably benign	Het
Ptchd3	A	T	11: 121,842,191	M636L	probably benign	Het
Rab2a	A	G	4: 8,572,559	D51G	probably benign	Het
Rnf139	T	A	15: 58,899,906	D593E	probably benign	Het
Sept7	A	G	9: 25,306,256	N422S	probably benign	Het
Shprh	T	C	10: 11,194,170		probably benign	Het
Slc7a6os	A	G	8: 106,210,567	I87T	probably damaging	Het
Slc7a7	A	G	14: 54,377,924		probably benign	Het
Spc24	G	T	9: 21,757,313	N129K	possibly damaging	Het
Strip2	C	T	6: 29,926,560	T148I	probably benign	Het
Tmem150c	A	C	5: 100,086,273		probably null	Het
Ttn	G	T	2: 76,811,020	Y11801*	probably null	Het
Usp37	A	T	1: 74,454,064	L688*	probably null	Het
Usp38	T	C	8: 80,995,840	I351V	probably benign	Het
Vav2	T	A	2: 27,296,175	M223L	probably benign	Het
Wdr36	A	G	18: 32,852,915	I557M	possibly damaging	Het
Wwc2	A	T	8: 47,880,204	M259K	probably benign	Het
Znfx1	G	A	2: 167,046,978	S770L	probably benign	Het

Other mutations in Pdgfra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Pdgfra	APN	5	75163679	missense	probably benign	0.40
IGL00574:Pdgfra	APN	5	75181047	missense	probably damaging	1.00
IGL00906:Pdgfra	APN	5	75180173	missense	probably benign	0.00
IGL00964:Pdgfra	APN	5	75175065	missense	probably damaging	1.00
IGL01467:Pdgfra	APN	5	75185631	critical splice donor site	probably null
IGL01485:Pdgfra	APN	5	75163652	missense	probably benign	0.02
IGL01556:Pdgfra	APN	5	75177691	missense	probably damaging	1.00
IGL01949:Pdgfra	APN	5	75170665	missense	probably damaging	0.98
IGL02066:Pdgfra	APN	5	75170580	missense	possibly damaging	0.55
IGL02271:Pdgfra	APN	5	75187906	missense	probably damaging	1.00
IGL02726:Pdgfra	APN	5	75194957	nonsense	probably null
IGL02858:Pdgfra	APN	5	75194974	missense	probably damaging	1.00
IGL03306:Pdgfra	APN	5	75192533	missense	possibly damaging	0.49
Pony_express	UTSW	5	75189234	nonsense	probably null
P0033:Pdgfra	UTSW	5	75192561	missense	probably damaging	1.00
PIT4472001:Pdgfra	UTSW	5	75180246	missense	probably damaging	1.00
R0134:Pdgfra	UTSW	5	75166511	missense	probably damaging	1.00
R0200:Pdgfra	UTSW	5	75163777	missense	probably damaging	1.00
R0254:Pdgfra	UTSW	5	75167935	missense	probably damaging	1.00
R0467:Pdgfra	UTSW	5	75195036	missense	probably damaging	1.00
R0532:Pdgfra	UTSW	5	75170773	missense	probably benign	0.00
R0608:Pdgfra	UTSW	5	75163777	missense	probably damaging	1.00
R0765:Pdgfra	UTSW	5	75187987	unclassified	probably benign
R1171:Pdgfra	UTSW	5	75173447	missense	probably damaging	0.98
R1372:Pdgfra	UTSW	5	75189263	missense	probably damaging	0.96
R1530:Pdgfra	UTSW	5	75189010	splice site	probably null
R1585:Pdgfra	UTSW	5	75192603	missense	probably damaging	1.00
R1666:Pdgfra	UTSW	5	75189020	missense	possibly damaging	0.94
R1836:Pdgfra	UTSW	5	75183014	missense	possibly damaging	0.95
R1868:Pdgfra	UTSW	5	75170873	missense	probably benign	0.43
R1923:Pdgfra	UTSW	5	75163733	missense	probably benign	0.03
R2075:Pdgfra	UTSW	5	75187948	missense	probably damaging	1.00
R2261:Pdgfra	UTSW	5	75185523	missense	probably benign	0.03
R2262:Pdgfra	UTSW	5	75185523	missense	probably benign	0.03
R3028:Pdgfra	UTSW	5	75174981	missense	probably damaging	1.00
R3236:Pdgfra	UTSW	5	75167936	missense	probably damaging	1.00
R3692:Pdgfra	UTSW	5	75189287	missense	possibly damaging	0.54
R3701:Pdgfra	UTSW	5	75180220	nonsense	probably null
R3890:Pdgfra	UTSW	5	75167927	missense	probably null	0.57
R3901:Pdgfra	UTSW	5	75192508	missense	probably benign	0.10
R3902:Pdgfra	UTSW	5	75192508	missense	probably benign	0.10
R4272:Pdgfra	UTSW	5	75183070	missense	probably benign	0.05
R4532:Pdgfra	UTSW	5	75181083	missense	probably damaging	1.00
R4660:Pdgfra	UTSW	5	75162271	missense	possibly damaging	0.82
R4753:Pdgfra	UTSW	5	75181524	missense	probably damaging	1.00
R4795:Pdgfra	UTSW	5	75189311	missense	probably benign
R4796:Pdgfra	UTSW	5	75189311	missense	probably benign
R4884:Pdgfra	UTSW	5	75189312	missense	probably benign	0.07
R4936:Pdgfra	UTSW	5	75195026	missense	probably damaging	1.00
R5625:Pdgfra	UTSW	5	75189337	critical splice donor site	probably null
R5666:Pdgfra	UTSW	5	75173495	missense	probably benign	0.00
R5670:Pdgfra	UTSW	5	75173495	missense	probably benign	0.00
R5714:Pdgfra	UTSW	5	75186012	missense	probably damaging	1.00
R5836:Pdgfra	UTSW	5	75163774	missense	possibly damaging	0.52
R6126:Pdgfra	UTSW	5	75170529	missense	probably benign	0.09
R6141:Pdgfra	UTSW	5	75173396	missense	probably damaging	0.98
R6297:Pdgfra	UTSW	5	75173474	missense	possibly damaging	0.88
R6363:Pdgfra	UTSW	5	75170836	missense	possibly damaging	0.91
R6376:Pdgfra	UTSW	5	75166519	missense	probably benign	0.02
R6485:Pdgfra	UTSW	5	75175074	splice site	probably null
R6612:Pdgfra	UTSW	5	75167842	missense	probably benign	0.01
R6641:Pdgfra	UTSW	5	75162101	intron	probably benign
R6954:Pdgfra	UTSW	5	75173394	missense	possibly damaging	0.82
R7110:Pdgfra	UTSW	5	75189234	nonsense	probably null
R7192:Pdgfra	UTSW	5	75183106	missense	probably damaging	1.00
R7294:Pdgfra	UTSW	5	75181651	missense	probably benign	0.05
R7347:Pdgfra	UTSW	5	75183098	missense	possibly damaging	0.91
R7476:Pdgfra	UTSW	5	75170603	missense	probably damaging	1.00
R7512:Pdgfra	UTSW	5	75195014	nonsense	probably null
R7609:Pdgfra	UTSW	5	75166721	missense	probably benign	0.10
Z1088:Pdgfra	UTSW	5	75166577	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GCCACTCATGCTTCAACAGGAAAGG -3'
(R):5'- GTCATCCACACAGGCTTACCAAGG -3'

Sequencing Primer
(F):5'- AAAGAGTCCCGCTGCTTCAG -3'
(R):5'- AGGCTTACCAAGGCCCTC -3'

Posted On

2013-04-16