Incidental Mutation 'R8141:Pdgfra'
ID 632530
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 067569-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8141 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 75312953-75358876 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75338387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 547 (V547A)
Ref Sequence ENSEMBL: ENSMUSP00000000476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000476] [ENSMUST00000168162] [ENSMUST00000201711] [ENSMUST00000202186] [ENSMUST00000202681]
AlphaFold P26618
Predicted Effect possibly damaging
Transcript: ENSMUST00000000476
AA Change: V547A

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000000476
Gene: ENSMUSG00000029231
AA Change: V547A

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 possibly damaging
Transcript: ENSMUST00000168162
AA Change: V547A

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127173
Gene: ENSMUSG00000029231
AA Change: V547A

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 benign
Transcript: ENSMUST00000201711
AA Change: V547A

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143891
Gene: ENSMUSG00000029231
AA Change: V547A

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
Pfam:Pkinase 593 701 9.9e-14 PFAM
Pfam:Pkinase_Tyr 593 750 5.2e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000202186
SMART Domains Protein: ENSMUSP00000144543
Gene: ENSMUSG00000029231

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IG 34 122 2.6e-5 SMART
IG_like 135 206 7e-2 SMART
IGc2 226 297 3.6e-6 SMART
IG 322 414 1.2e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202681
AA Change: V547A

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143906
Gene: ENSMUSG00000029231
AA Change: V547A

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
Pfam:Pkinase 593 701 9.9e-14 PFAM
Pfam:Pkinase_Tyr 593 750 5.2e-32 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 90.7%
Validation Efficiency 100% (59/59)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,165,688 (GRCm39) T229A probably benign Het
4930438A08Rik A G 11: 58,177,411 (GRCm39) E40G Het
Actn2 T C 13: 12,303,516 (GRCm39) D428G probably damaging Het
Arl14epl C A 18: 47,059,410 (GRCm39) N8K probably benign Het
Bend7 T C 2: 4,757,636 (GRCm39) V226A probably benign Het
C1s1 A T 6: 124,508,321 (GRCm39) L556Q probably damaging Het
Casr T C 16: 36,315,173 (GRCm39) K966E probably damaging Het
Ccm2l T C 2: 152,912,791 (GRCm39) L110P probably damaging Het
Cdhr4 G A 9: 107,873,991 (GRCm39) R59H Het
Celf3 C A 3: 94,395,850 (GRCm39) N410K probably damaging Het
Cfap251 T G 5: 123,424,493 (GRCm39) V726G possibly damaging Het
Cpne6 T C 14: 55,750,066 (GRCm39) C66R possibly damaging Het
Cyp2f2 G A 7: 26,828,678 (GRCm39) V183I probably benign Het
Eln CTCCAGCTCCGAT C 5: 134,758,003 (GRCm39) probably benign Het
Fam53b A C 7: 132,361,758 (GRCm39) V90G probably damaging Het
Fat3 T A 9: 15,908,362 (GRCm39) I2547F possibly damaging Het
Foxk1 A G 5: 142,439,716 (GRCm39) Y524C probably damaging Het
Gpr87 A G 3: 59,087,020 (GRCm39) S162P probably damaging Het
Ifi204 A G 1: 173,583,189 (GRCm39) V343A possibly damaging Het
Igsf10 A G 3: 59,237,949 (GRCm39) L744P probably damaging Het
Iqub T A 6: 24,491,608 (GRCm39) K359N probably benign Het
Kdm3b A T 18: 34,961,599 (GRCm39) K1459* probably null Het
Kirrel1 C T 3: 86,993,735 (GRCm39) W507* probably null Het
Klra17 T C 6: 129,849,292 (GRCm39) D94G probably damaging Het
Llgl1 G C 11: 60,601,142 (GRCm39) E693D probably benign Het
Lrrc37 T C 11: 103,511,855 (GRCm39) T38A unknown Het
Lypd4 A T 7: 24,564,254 (GRCm39) D201E possibly damaging Het
Nin A G 12: 70,076,795 (GRCm39) S1794P Het
Oog2 T C 4: 143,920,777 (GRCm39) L70P probably damaging Het
Or6n2 T C 1: 173,897,488 (GRCm39) L208P probably damaging Het
Pacsin1 G T 17: 27,926,034 (GRCm39) R282S possibly damaging Het
Pcdhb9 T A 18: 37,535,361 (GRCm39) Y452N probably damaging Het
Plcb4 T C 2: 135,781,169 (GRCm39) F209L probably damaging Het
Pnpla6 T C 8: 3,571,384 (GRCm39) S158P probably benign Het
Prlhr C G 19: 60,455,747 (GRCm39) R273P probably damaging Het
Prss41 G A 17: 24,056,607 (GRCm39) P196L probably damaging Het
Ptgr3 T C 18: 84,112,651 (GRCm39) L109P probably benign Het
Ptpn22 A G 3: 103,793,643 (GRCm39) E598G possibly damaging Het
Rasal2 T C 1: 156,992,240 (GRCm39) D569G possibly damaging Het
Sf3b3 A C 8: 111,547,483 (GRCm39) M715R possibly damaging Het
Ska1 T C 18: 74,339,907 (GRCm39) N13S probably benign Het
Spocd1 A C 4: 129,823,497 (GRCm39) E98A Het
Sycp1 G T 3: 102,842,885 (GRCm39) A28E possibly damaging Het
Syf2 C T 4: 134,664,182 (GRCm39) R199C probably damaging Het
Syne2 A G 12: 76,108,442 (GRCm39) D942G possibly damaging Het
Tamalin T A 15: 101,129,790 (GRCm39) C358S possibly damaging Het
Tmem63a A G 1: 180,801,776 (GRCm39) T764A probably benign Het
Ttf1 C T 2: 28,957,238 (GRCm39) Q503* probably null Het
Usp13 T C 3: 32,949,025 (GRCm39) V454A possibly damaging Het
Usp47 A G 7: 111,652,472 (GRCm39) T50A possibly damaging Het
Zfyve26 A T 12: 79,315,331 (GRCm39) C1382S possibly damaging 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
R0331:Pdgfra UTSW 5 75,355,713 (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
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'- TAGGCCACCCCTAAAGTGAC -3'
(R):5'- TCCCAGAGTTCAAGGCAAC -3'

Sequencing Primer
(F):5'- TAAAGTGACCTGGGATCCCC -3'
(R):5'- GGCAACTGAGCTTCACTACAG -3'
Posted On 2020-06-30