Incidental Mutation 'R0331:Pdgfra'
ID 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
Essential gene? Essential (E-score: 1.000) question?
Stock # R0331 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 75312953-75358876 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75355713 bp (GRCm39)
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]
AlphaFold P26618
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik T A 8: 79,956,021 (GRCm39) T79S probably benign Het
Abtb1 T C 6: 88,817,684 (GRCm39) probably benign Het
Acot12 G A 13: 91,908,183 (GRCm39) probably null Het
Adamts4 T A 1: 171,078,541 (GRCm39) S54T probably benign Het
Adgrl4 T C 3: 151,203,577 (GRCm39) S96P probably benign Het
Aip G T 19: 4,168,247 (GRCm39) T40K probably damaging Het
Anapc4 A G 5: 53,012,984 (GRCm39) probably benign Het
Asz1 A G 6: 18,103,618 (GRCm39) probably benign Het
Atf7ip A G 6: 136,538,161 (GRCm39) T465A possibly damaging Het
Atp11a C T 8: 12,866,953 (GRCm39) Q127* probably null Het
Axin1 A G 17: 26,362,081 (GRCm39) R142G probably damaging Het
Bcat1 T A 6: 144,993,040 (GRCm39) E86V probably benign Het
Brd4 G A 17: 32,421,489 (GRCm39) P749L probably benign Het
C1ra G A 6: 124,496,394 (GRCm39) probably null Het
Capza2 A T 6: 17,665,102 (GRCm39) N237I probably benign Het
Cd2ap A T 17: 43,116,192 (GRCm39) V556E probably benign Het
Cfap65 G A 1: 74,968,460 (GRCm39) P124L probably damaging Het
Cfap65 G T 1: 74,968,461 (GRCm39) P124T probably damaging Het
Cftr T C 6: 18,235,225 (GRCm39) V488A possibly damaging Het
Ckmt1 A T 2: 121,193,337 (GRCm39) probably null Het
Cmya5 T G 13: 93,280,911 (GRCm39) E35A possibly damaging Het
Col7a1 A G 9: 108,796,570 (GRCm39) probably benign Het
Crmp1 C T 5: 37,422,657 (GRCm39) L155F possibly damaging Het
Cyp2d10 T A 15: 82,291,227 (GRCm39) T33S probably benign Het
Dhdh T C 7: 45,137,544 (GRCm39) K48E probably benign Het
Dlst T C 12: 85,165,586 (GRCm39) V103A probably damaging Het
Dohh C T 10: 81,223,646 (GRCm39) T233I probably benign Het
Dvl2 C A 11: 69,897,043 (GRCm39) probably benign Het
Eipr1 C T 12: 28,914,703 (GRCm39) Q286* probably null Het
Enpp6 C A 8: 47,535,484 (GRCm39) T343K probably damaging Het
Fbxw11 T A 11: 32,661,895 (GRCm39) F112I probably damaging Het
Gdpd4 T A 7: 97,622,215 (GRCm39) N231K probably benign Het
Gm6370 A T 5: 146,430,576 (GRCm39) T254S probably benign Het
Hapln4 G T 8: 70,537,159 (GRCm39) Q31H probably damaging Het
Hic1 T A 11: 75,056,316 (GRCm39) T858S possibly damaging Het
Isg20l2 T C 3: 87,839,092 (GRCm39) L101P probably damaging Het
Itga10 T C 3: 96,559,799 (GRCm39) Y485H probably damaging Het
Itgal T A 7: 126,905,853 (GRCm39) probably null Het
Itln1 T C 1: 171,359,117 (GRCm39) N62S probably damaging Het
Kdm4b T C 17: 56,693,289 (GRCm39) probably benign Het
Lct T C 1: 128,226,479 (GRCm39) probably benign Het
Lman2 A T 13: 55,500,829 (GRCm39) H123Q probably damaging Het
Lztr1 T A 16: 17,342,101 (GRCm39) probably benign Het
Myo3b G T 2: 69,925,605 (GRCm39) G24V probably damaging Het
Nacad T A 11: 6,549,441 (GRCm39) Q1250L possibly damaging Het
Ncor2 A T 5: 125,161,981 (GRCm39) M431K unknown Het
Nek9 T A 12: 85,374,149 (GRCm39) probably benign Het
Neu1 C A 17: 35,153,146 (GRCm39) N255K possibly damaging Het
Nf2 T A 11: 4,744,914 (GRCm39) T75S probably benign Het
Nipal4 T A 11: 46,041,040 (GRCm39) D385V probably damaging Het
Olah T A 2: 3,343,511 (GRCm39) N245I probably damaging Het
Or5p54 G T 7: 107,554,077 (GRCm39) L76F probably benign Het
Pag1 T A 3: 9,767,030 (GRCm39) T90S probably benign Het
Pald1 A G 10: 61,176,708 (GRCm39) probably null Het
Parva A G 7: 112,144,005 (GRCm39) M98V probably benign Het
Paxbp1 T A 16: 90,834,255 (GRCm39) D177V possibly damaging Het
Paxip1 A G 5: 27,970,230 (GRCm39) I587T probably damaging Het
Pclo T C 5: 14,730,390 (GRCm39) probably benign Het
Pef1 A T 4: 130,021,241 (GRCm39) D265V probably damaging Het
Plekhh2 G A 17: 84,893,794 (GRCm39) E870K possibly damaging Het
Plscr4 G A 9: 92,364,695 (GRCm39) G40D probably damaging Het
Psg18 A G 7: 18,087,233 (GRCm39) Y142H probably benign Het
Ptchd3 A T 11: 121,733,017 (GRCm39) M636L probably benign Het
Rab2a A G 4: 8,572,559 (GRCm39) D51G probably benign Het
Rnf139 T A 15: 58,771,755 (GRCm39) D593E probably benign Het
Septin7 A G 9: 25,217,552 (GRCm39) N422S probably benign Het
Shprh T C 10: 11,069,914 (GRCm39) probably benign Het
Slc7a6os A G 8: 106,937,199 (GRCm39) I87T probably damaging Het
Slc7a7 A G 14: 54,615,381 (GRCm39) probably benign Het
Spc24 G T 9: 21,668,609 (GRCm39) N129K possibly damaging Het
Strip2 C T 6: 29,926,559 (GRCm39) T148I probably benign Het
Tmem150c A C 5: 100,234,132 (GRCm39) probably null Het
Trav13-5 A G 14: 54,033,205 (GRCm39) N38S probably benign Het
Ttn G T 2: 76,641,364 (GRCm39) Y11801* probably null Het
Usp37 A T 1: 74,493,223 (GRCm39) L688* probably null Het
Usp38 T C 8: 81,722,469 (GRCm39) I351V probably benign Het
Vav2 T A 2: 27,186,187 (GRCm39) M223L probably benign Het
Wdr36 A G 18: 32,985,968 (GRCm39) I557M possibly damaging Het
Wwc2 A T 8: 48,333,239 (GRCm39) M259K probably benign Het
Znfx1 G A 2: 166,888,898 (GRCm39) S770L probably benign Het
Other mutations in Pdgfra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Pdgfra APN 5 75,324,340 (GRCm39) missense probably benign 0.40
IGL00574:Pdgfra APN 5 75,341,708 (GRCm39) missense probably damaging 1.00
IGL00906:Pdgfra APN 5 75,340,834 (GRCm39) missense probably benign 0.00
IGL00964:Pdgfra APN 5 75,335,726 (GRCm39) missense probably damaging 1.00
IGL01467:Pdgfra APN 5 75,346,292 (GRCm39) critical splice donor site probably null
IGL01485:Pdgfra APN 5 75,324,313 (GRCm39) missense probably benign 0.02
IGL01556:Pdgfra APN 5 75,338,352 (GRCm39) missense probably damaging 1.00
IGL01949:Pdgfra APN 5 75,331,326 (GRCm39) missense probably damaging 0.98
IGL02066:Pdgfra APN 5 75,331,241 (GRCm39) missense possibly damaging 0.55
IGL02271:Pdgfra APN 5 75,348,567 (GRCm39) missense probably damaging 1.00
IGL02726:Pdgfra APN 5 75,355,618 (GRCm39) nonsense probably null
IGL02858:Pdgfra APN 5 75,355,635 (GRCm39) missense probably damaging 1.00
IGL03306:Pdgfra APN 5 75,353,194 (GRCm39) missense possibly damaging 0.49
Pony_express UTSW 5 75,349,895 (GRCm39) nonsense probably null
P0033:Pdgfra UTSW 5 75,353,222 (GRCm39) missense probably damaging 1.00
PIT4472001:Pdgfra UTSW 5 75,340,907 (GRCm39) missense probably damaging 1.00
R0134:Pdgfra UTSW 5 75,327,172 (GRCm39) missense probably damaging 1.00
R0200:Pdgfra UTSW 5 75,324,438 (GRCm39) missense probably damaging 1.00
R0254:Pdgfra UTSW 5 75,328,596 (GRCm39) missense probably damaging 1.00
R0467:Pdgfra UTSW 5 75,355,697 (GRCm39) missense probably damaging 1.00
R0532:Pdgfra UTSW 5 75,331,434 (GRCm39) missense probably benign 0.00
R0608:Pdgfra UTSW 5 75,324,438 (GRCm39) missense probably damaging 1.00
R0765:Pdgfra UTSW 5 75,348,648 (GRCm39) unclassified probably benign
R1171:Pdgfra UTSW 5 75,334,108 (GRCm39) missense probably damaging 0.98
R1372:Pdgfra UTSW 5 75,349,924 (GRCm39) missense probably damaging 0.96
R1530:Pdgfra UTSW 5 75,349,671 (GRCm39) splice site probably null
R1585:Pdgfra UTSW 5 75,353,264 (GRCm39) missense probably damaging 1.00
R1666:Pdgfra UTSW 5 75,349,681 (GRCm39) missense possibly damaging 0.94
R1836:Pdgfra UTSW 5 75,343,675 (GRCm39) missense possibly damaging 0.95
R1868:Pdgfra UTSW 5 75,331,534 (GRCm39) missense probably benign 0.43
R1923:Pdgfra UTSW 5 75,324,394 (GRCm39) missense probably benign 0.03
R2075:Pdgfra UTSW 5 75,348,609 (GRCm39) missense probably damaging 1.00
R2261:Pdgfra UTSW 5 75,346,184 (GRCm39) missense probably benign 0.03
R2262:Pdgfra UTSW 5 75,346,184 (GRCm39) missense probably benign 0.03
R3028:Pdgfra UTSW 5 75,335,642 (GRCm39) missense probably damaging 1.00
R3236:Pdgfra UTSW 5 75,328,597 (GRCm39) missense probably damaging 1.00
R3692:Pdgfra UTSW 5 75,349,948 (GRCm39) missense possibly damaging 0.54
R3701:Pdgfra UTSW 5 75,340,881 (GRCm39) nonsense probably null
R3890:Pdgfra UTSW 5 75,328,588 (GRCm39) missense probably null 0.57
R3901:Pdgfra UTSW 5 75,353,169 (GRCm39) missense probably benign 0.10
R3902:Pdgfra UTSW 5 75,353,169 (GRCm39) missense probably benign 0.10
R4272:Pdgfra UTSW 5 75,343,731 (GRCm39) missense probably benign 0.05
R4532:Pdgfra UTSW 5 75,341,744 (GRCm39) missense probably damaging 1.00
R4660:Pdgfra UTSW 5 75,322,932 (GRCm39) missense possibly damaging 0.82
R4753:Pdgfra UTSW 5 75,342,185 (GRCm39) missense probably damaging 1.00
R4795:Pdgfra UTSW 5 75,349,972 (GRCm39) missense probably benign
R4796:Pdgfra UTSW 5 75,349,972 (GRCm39) missense probably benign
R4884:Pdgfra UTSW 5 75,349,973 (GRCm39) missense probably benign 0.07
R4936:Pdgfra UTSW 5 75,355,687 (GRCm39) missense probably damaging 1.00
R5625:Pdgfra UTSW 5 75,349,998 (GRCm39) critical splice donor site probably null
R5666:Pdgfra UTSW 5 75,334,156 (GRCm39) missense probably benign 0.00
R5670:Pdgfra UTSW 5 75,334,156 (GRCm39) missense probably benign 0.00
R5714:Pdgfra UTSW 5 75,346,673 (GRCm39) missense probably damaging 1.00
R5836:Pdgfra UTSW 5 75,324,435 (GRCm39) missense possibly damaging 0.52
R6126:Pdgfra UTSW 5 75,331,190 (GRCm39) missense probably benign 0.09
R6141:Pdgfra UTSW 5 75,334,057 (GRCm39) missense probably damaging 0.98
R6297:Pdgfra UTSW 5 75,334,135 (GRCm39) missense possibly damaging 0.88
R6363:Pdgfra UTSW 5 75,331,497 (GRCm39) missense possibly damaging 0.91
R6376:Pdgfra UTSW 5 75,327,180 (GRCm39) missense probably benign 0.02
R6485:Pdgfra UTSW 5 75,335,735 (GRCm39) splice site probably null
R6612:Pdgfra UTSW 5 75,328,503 (GRCm39) missense probably benign 0.01
R6641:Pdgfra UTSW 5 75,322,762 (GRCm39) intron probably benign
R6954:Pdgfra UTSW 5 75,334,055 (GRCm39) missense possibly damaging 0.82
R7110:Pdgfra UTSW 5 75,349,895 (GRCm39) nonsense probably null
R7192:Pdgfra UTSW 5 75,343,767 (GRCm39) missense probably damaging 1.00
R7294:Pdgfra UTSW 5 75,342,312 (GRCm39) missense probably benign 0.05
R7347:Pdgfra UTSW 5 75,343,759 (GRCm39) missense possibly damaging 0.91
R7476:Pdgfra UTSW 5 75,331,264 (GRCm39) missense probably damaging 1.00
R7512:Pdgfra UTSW 5 75,355,675 (GRCm39) nonsense probably null
R7609:Pdgfra UTSW 5 75,327,382 (GRCm39) missense probably benign 0.10
R7925:Pdgfra UTSW 5 75,353,079 (GRCm39) splice site probably benign
R8141:Pdgfra UTSW 5 75,338,387 (GRCm39) missense possibly damaging 0.81
R8490:Pdgfra UTSW 5 75,331,329 (GRCm39) critical splice donor site probably null
R8886:Pdgfra UTSW 5 75,343,734 (GRCm39) missense probably benign 0.03
R9234:Pdgfra UTSW 5 75,324,262 (GRCm39) missense possibly damaging 0.93
R9339:Pdgfra UTSW 5 75,355,635 (GRCm39) missense probably damaging 1.00
R9459:Pdgfra UTSW 5 75,353,129 (GRCm39) missense probably damaging 1.00
R9475:Pdgfra UTSW 5 75,328,588 (GRCm39) missense possibly damaging 0.93
R9519:Pdgfra UTSW 5 75,337,350 (GRCm39) missense probably benign 0.00
Z1088:Pdgfra UTSW 5 75,327,238 (GRCm39) missense probably benign 0.03
Z1177:Pdgfra UTSW 5 75,342,335 (GRCm39) missense probably null 1.00
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