Incidental Mutation 'R5625:Pdgfra'
| ID |
441787 |
| 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 |
043164-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5625 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
75312953-75358876 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 75349998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000476]
[ENSMUST00000168162]
|
| AlphaFold |
P26618 |
| 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 |
|
| Meta Mutation Damage Score |
0.9492 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (61/61) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
T |
G |
9: 44,189,333 (GRCm39) |
D388A |
probably benign |
Het |
| Ampd3 |
A |
C |
7: 110,401,730 (GRCm39) |
E408A |
probably damaging |
Het |
| Bmp1 |
G |
T |
14: 70,723,606 (GRCm39) |
N743K |
probably benign |
Het |
| Brsk1 |
A |
G |
7: 4,709,399 (GRCm39) |
K398E |
probably damaging |
Het |
| Ccdc157 |
A |
T |
11: 4,101,888 (GRCm39) |
M11K |
probably damaging |
Het |
| Cep295 |
A |
C |
9: 15,252,187 (GRCm39) |
M394R |
probably damaging |
Het |
| Cfap44 |
G |
T |
16: 44,280,710 (GRCm39) |
|
probably null |
Het |
| Col13a1 |
C |
T |
10: 61,679,388 (GRCm39) |
G713R |
unknown |
Het |
| Cxcr2 |
A |
T |
1: 74,197,991 (GRCm39) |
K162* |
probably null |
Het |
| Cyp3a44 |
C |
T |
5: 145,716,376 (GRCm39) |
D405N |
possibly damaging |
Het |
| Exo1 |
G |
T |
1: 175,721,380 (GRCm39) |
D340Y |
possibly damaging |
Het |
| Farp2 |
T |
G |
1: 93,456,470 (GRCm39) |
L51R |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,943,083 (GRCm39) |
I659F |
possibly damaging |
Het |
| Gbp2b |
T |
A |
3: 142,304,806 (GRCm39) |
W81R |
probably damaging |
Het |
| Gipc2 |
C |
T |
3: 151,871,541 (GRCm39) |
|
probably benign |
Het |
| Gm10941 |
G |
T |
10: 77,094,670 (GRCm39) |
|
probably benign |
Het |
| Gm1988 |
A |
T |
7: 38,823,229 (GRCm39) |
|
noncoding transcript |
Het |
| Hapln3 |
G |
T |
7: 78,767,006 (GRCm39) |
|
probably null |
Het |
| Ifi213 |
A |
G |
1: 173,396,629 (GRCm39) |
S482P |
possibly damaging |
Het |
| Insc |
A |
G |
7: 114,428,302 (GRCm39) |
T92A |
probably damaging |
Het |
| Lrrn1 |
T |
A |
6: 107,544,315 (GRCm39) |
C38S |
probably damaging |
Het |
| Mycbpap |
T |
C |
11: 94,396,519 (GRCm39) |
E107G |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,067,547 (GRCm39) |
L5848* |
probably null |
Het |
| Nrg3 |
A |
T |
14: 38,092,950 (GRCm39) |
M545K |
probably damaging |
Het |
| Nudt3 |
A |
G |
17: 27,802,202 (GRCm39) |
L28P |
probably damaging |
Het |
| Or8g35 |
T |
A |
9: 39,381,099 (GRCm39) |
M308L |
probably benign |
Het |
| Otop1 |
A |
T |
5: 38,460,104 (GRCm39) |
Y557F |
probably damaging |
Het |
| Pcare |
T |
A |
17: 72,058,321 (GRCm39) |
D452V |
probably damaging |
Het |
| Pi4kb |
A |
G |
3: 94,891,988 (GRCm39) |
M223V |
probably benign |
Het |
| Piezo1 |
T |
C |
8: 123,209,699 (GRCm39) |
T2335A |
probably benign |
Het |
| Ppp6c |
A |
G |
2: 39,087,453 (GRCm39) |
V251A |
probably benign |
Het |
| Prkg1 |
C |
T |
19: 31,742,162 (GRCm39) |
E21K |
possibly damaging |
Het |
| Ptpru |
T |
C |
4: 131,530,691 (GRCm39) |
E521G |
probably null |
Het |
| Rasl10b |
G |
T |
11: 83,309,640 (GRCm39) |
R199L |
probably damaging |
Het |
| Rhbdf2 |
G |
A |
11: 116,496,203 (GRCm39) |
R111C |
probably damaging |
Het |
| Sec23ip |
G |
T |
7: 128,346,707 (GRCm39) |
|
probably benign |
Het |
| Sptbn5 |
A |
T |
2: 119,910,273 (GRCm39) |
|
noncoding transcript |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,141,886 (GRCm39) |
S6141P |
probably benign |
Het |
| Szt2 |
A |
G |
4: 118,230,414 (GRCm39) |
V2653A |
unknown |
Het |
| Tex46 |
T |
C |
4: 136,337,925 (GRCm39) |
F39S |
probably damaging |
Het |
| Tmem50a |
AACCA |
AA |
4: 134,625,778 (GRCm39) |
|
probably benign |
Het |
| Tmem62 |
G |
T |
2: 120,820,874 (GRCm39) |
W180L |
probably damaging |
Het |
| Tnxb |
G |
A |
17: 34,904,185 (GRCm39) |
A1232T |
probably benign |
Het |
| Tubgcp3 |
T |
C |
8: 12,674,888 (GRCm39) |
H744R |
possibly damaging |
Het |
| Uggt2 |
A |
G |
14: 119,315,136 (GRCm39) |
I311T |
probably damaging |
Het |
| Usp8 |
C |
T |
2: 126,584,197 (GRCm39) |
R469C |
probably damaging |
Het |
| Vmn1r19 |
T |
C |
6: 57,382,281 (GRCm39) |
L278S |
probably damaging |
Het |
| Vmn2r129 |
A |
T |
4: 156,686,505 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,884 (GRCm39) |
I176N |
probably benign |
Het |
| Wdr93 |
A |
G |
7: 79,420,766 (GRCm39) |
T376A |
probably benign |
Het |
| Zfp575 |
G |
A |
7: 24,285,077 (GRCm39) |
A188V |
possibly damaging |
Het |
|
| Other mutations in Pdgfra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- GTGAAGTGTGAGCTTCCTCC -3'
(R):5'- TGCTACTGGGGTCCTATAGAG -3'
Sequencing Primer
(F):5'- GCCCATGTCCACACTTGG -3'
(R):5'- GGGGTCCTATAGAGCACTCC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation