Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01467:Pdgfra'

88155

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdgfra

Ensembl Gene

ENSMUSG00000029231

Gene Name

platelet derived growth factor receptor, alpha polypeptide

Synonyms

Pdgfr-2, CD140a

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01467

Quality Score

Status

Chromosome

Chromosomal Location

75152292-75198215 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 75185631 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127173 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000476] [ENSMUST00000168162] [ENSMUST00000201711] [ENSMUST00000202681]

Predicted Effect

probably null
Transcript: ENSMUST00000000476

SMART Domains

Protein: ENSMUSP00000000476
Gene: ENSMUSG00000029231

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 null
Transcript: ENSMUST00000168162

SMART Domains

Protein: ENSMUSP00000127173
Gene: ENSMUSG00000029231

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 benign
Transcript: ENSMUST00000201711

SMART Domains

Protein: ENSMUSP00000143891
Gene: ENSMUSG00000029231

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
Pfam:Pkinase	593	701	9.9e-14	PFAM
Pfam:Pkinase_Tyr	593	750	5.2e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202681

SMART Domains

Protein: ENSMUSP00000143906
Gene: ENSMUSG00000029231

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
Pfam:Pkinase	593	701	9.9e-14	PFAM
Pfam:Pkinase_Tyr	593	750	5.2e-32	PFAM

Coding Region Coverage

Validation Efficiency

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	A	G	5: 121,519,728	C501R	probably damaging	Het
Atxn1	C	T	13: 45,567,193	V409I	probably damaging	Het
Cdkn2aip	T	C	8: 47,711,212	R489G	probably damaging	Het
Cgn	A	G	3: 94,779,588	S135P	probably damaging	Het
Cpne3	C	A	4: 19,553,737	C98F	probably benign	Het
Cyp2c23	T	C	19: 44,015,073	N221S	possibly damaging	Het
Dnah8	A	G	17: 30,779,916	N3525S	probably damaging	Het
Efr3b	T	C	12: 3,969,597	E560G	probably damaging	Het
Eif2b5	C	A	16: 20,508,964	C154*	probably null	Het
Eps8l2	A	G	7: 141,361,601	E595G	probably damaging	Het
Gm8394	A	G	10: 85,314,122		noncoding transcript	Het
Gm9839	A	T	1: 32,519,951	I350N	probably damaging	Het
Hdlbp	A	T	1: 93,417,698		probably benign	Het
Il18rap	A	T	1: 40,548,639	I466F	probably damaging	Het
Itpr1	T	A	6: 108,488,496	I2123N	probably damaging	Het
Jakmip2	A	G	18: 43,582,287	I58T	probably benign	Het
Kdm2a	A	G	19: 4,324,407	S899P	probably damaging	Het
Mmp15	T	A	8: 95,366,331	F113I	probably benign	Het
Neb	T	C	2: 52,159,487	H6448R	possibly damaging	Het
Olfr165	T	C	16: 19,407,789	T77A	probably benign	Het
Olfr340	C	T	2: 36,452,644	R20*	probably null	Het
Pdgfc	A	G	3: 81,209,091	T251A	probably damaging	Het
Pdpk1	A	G	17: 24,088,170	S269P	probably damaging	Het
Pip4k2c	A	T	10: 127,199,629	F347L	probably benign	Het
Platr26	T	C	2: 71,723,312		noncoding transcript	Het
Pnisr	C	T	4: 21,874,650		probably benign	Het
Rab3gap1	T	A	1: 127,930,384		probably null	Het
Scn10a	C	T	9: 119,658,412	V619I	probably benign	Het
Slc38a11	T	A	2: 65,316,856	T426S	probably benign	Het
Son	T	C	16: 91,657,277	S971P	possibly damaging	Het
Stk33	T	A	7: 109,329,589	I239L	probably damaging	Het
Tiparp	G	T	3: 65,552,609	G442*	probably null	Het
Tmem270	G	T	5: 134,901,961		probably benign	Het
Vmn2r4	A	T	3: 64,406,395	N388K	probably damaging	Het
Zfp750	A	T	11: 121,512,941	C369*	probably null	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
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
R0331:Pdgfra	UTSW	5	75195052	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

Posted On

2013-11-18