Mutagenetix > Incidental Mutation

Incidental Mutation 'R9762:Pdgfc'

733046

Institutional Source

Beutler Lab

Gene Symbol

Pdgfc

Ensembl Gene

ENSMUSG00000028019

Gene Name

platelet-derived growth factor, C polypeptide

Synonyms

PDGF-C, 1110064L01Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9762 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80943723-81121347 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80944792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 17 (R17G)

Ref Sequence

ENSEMBL: ENSMUSP00000029652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029652] [ENSMUST00000129285] [ENSMUST00000143721]

AlphaFold

Q8CI19

Predicted Effect

probably benign
Transcript: ENSMUST00000029652
AA Change: R17G

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000029652
Gene: ENSMUSG00000028019
AA Change: R17G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CUB	46	163	2.43e-23	SMART
low complexity region	172	186	N/A	INTRINSIC
low complexity region	231	242	N/A	INTRINSIC
PDGF	249	339	3.62e-3	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000129285
AA Change: R17G

SMART Domains

Protein: ENSMUSP00000118970
Gene: ENSMUSG00000028019
AA Change: R17G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000143721
AA Change: R17G

SMART Domains

Protein: ENSMUSP00000122047
Gene: ENSMUSG00000028019
AA Change: R17G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines. This gene product appears to form only homodimers. It differs from the platelet-derived growth factor alpha and beta polypeptides in having an unusual N-terminal domain, the CUB domain. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygous mutation of this gene results neonatal and postnatal lethality with cleft palate, hypoplastic palatine bones, edema, blistering, and a short nasal septum with one allele or abnormal retinal pigmentation with a second allele. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	G	T	19: 57,025,691 (GRCm39)	R851S	probably damaging	Het
Acap2	C	A	16: 30,929,763 (GRCm39)	A407S	probably damaging	Het
Adam26a	A	T	8: 44,021,635 (GRCm39)	S618R	probably benign	Het
Adamtsl5	T	C	10: 80,180,896 (GRCm39)	Y89C	probably damaging	Het
Aebp2	T	A	6: 140,588,021 (GRCm39)	S364T	probably damaging	Het
Ankfy1	A	G	11: 72,621,401 (GRCm39)	E229G	probably benign	Het
Arhgap27	G	T	11: 103,251,511 (GRCm39)	D72E	probably benign	Het
Arhgap33	T	C	7: 30,230,950 (GRCm39)	E191G	probably null	Het
Atp6v0a1	C	T	11: 100,946,427 (GRCm39)	H807Y	possibly damaging	Het
Ccdc113	A	C	8: 96,272,605 (GRCm39)	E237D	probably benign	Het
Cd200r2	T	A	16: 44,729,420 (GRCm39)	I25K	probably benign	Het
Cd300c2	A	G	11: 114,887,775 (GRCm39)	V209A	probably damaging	Het
Cdkn2d	T	A	9: 21,200,383 (GRCm39)	E129D	probably benign	Het
Cfap251	A	G	5: 123,460,533 (GRCm39)	Y1165C	probably damaging	Het
Chd9	A	T	8: 91,712,741 (GRCm39)	N855Y	unknown	Het
Cntn3	A	G	6: 102,254,196 (GRCm39)	C249R	probably damaging	Het
Col12a1	T	C	9: 79,527,266 (GRCm39)	E2688G	possibly damaging	Het
Copb2	C	T	9: 98,464,901 (GRCm39)	T612I	probably benign	Het
Cplx1	A	T	5: 108,673,378 (GRCm39)	D29E	possibly damaging	Het
Cracd	A	G	5: 77,006,555 (GRCm39)	K972R	unknown	Het
Cstf3	A	T	2: 104,494,684 (GRCm39)	R645*	probably null	Het
Ctdp1	A	T	18: 80,492,550 (GRCm39)	Y648*	probably null	Het
Daam1	T	A	12: 71,990,855 (GRCm39)	D156E	unknown	Het
Dbn1	G	A	13: 55,622,824 (GRCm39)	P599L	probably damaging	Het
Diaph1	C	A	18: 37,987,589 (GRCm39)	V1056F	probably damaging	Het
Dzip3	A	T	16: 48,748,707 (GRCm39)	D870E	probably damaging	Het
Efcab12	T	C	6: 115,800,331 (GRCm39)	T231A	possibly damaging	Het
Efl1	A	C	7: 82,412,596 (GRCm39)	D995A	probably benign	Het
Fam186a	T	C	15: 99,842,393 (GRCm39)	T1284A	possibly damaging	Het
Fbxo33	T	C	12: 59,251,708 (GRCm39)	E269G	probably benign	Het
Foxj3	T	A	4: 119,483,540 (GRCm39)	M604K	unknown	Het
Gabra4	A	G	5: 71,814,463 (GRCm39)	S86P	unknown	Het
Gnas	G	A	2: 174,140,639 (GRCm39)	W269*	probably null	Het
Gpc6	T	G	14: 118,202,258 (GRCm39)	N489K	probably damaging	Het
Gprin3	T	C	6: 59,331,236 (GRCm39)	K357R	possibly damaging	Het
Grip1	G	T	10: 119,811,906 (GRCm39)	A286S	possibly damaging	Het
Grm4	A	T	17: 27,721,688 (GRCm39)	V151E	probably damaging	Het
Gucy1b1	A	T	3: 81,942,065 (GRCm39)	S565T	possibly damaging	Het
Hace1	T	C	10: 45,525,014 (GRCm39)	V260A	probably benign	Het
Hepacam2	A	G	6: 3,486,940 (GRCm39)	I139T	probably damaging	Het
Hspa4l	T	C	3: 40,727,057 (GRCm39)	I486T	probably benign	Het
Igkv8-19	T	C	6: 70,317,866 (GRCm39)	Y120C	probably damaging	Het
Iglv2	C	T	16: 19,079,548 (GRCm39)		probably benign	Het
Igsf10	A	T	3: 59,237,106 (GRCm39)	L1025H	probably damaging	Het
Itpkb	A	G	1: 180,161,752 (GRCm39)	N626S	probably benign	Het
Jarid2	C	T	13: 45,068,253 (GRCm39)	R1092W	possibly damaging	Het
Klc3	C	T	7: 19,132,023 (GRCm39)	W118*	probably null	Het
Klhl25	C	T	7: 75,516,741 (GRCm39)	T549I	probably damaging	Het
Krtap6-2	T	A	16: 89,216,763 (GRCm39)	Y68F	unknown	Het
Mtcl1	T	C	17: 66,673,347 (GRCm39)	N1121D	probably benign	Het
Ncbp3	A	G	11: 72,961,668 (GRCm39)	K314R	probably benign	Het
Nop2	T	C	6: 125,121,272 (GRCm39)	W685R	probably benign	Het
Orc1	T	A	4: 108,447,874 (GRCm39)	D40E	probably benign	Het
Pappa2	G	T	1: 158,684,948 (GRCm39)	N730K	probably damaging	Het
Parpbp	A	G	10: 87,960,815 (GRCm39)	S224P	possibly damaging	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Pik3r6	T	A	11: 68,424,358 (GRCm39)	L321*	probably null	Het
Pnp2	T	C	14: 51,197,006 (GRCm39)	W31R	probably damaging	Het
Prr12	T	C	7: 44,696,954 (GRCm39)	Y987C	unknown	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Prss23	T	C	7: 89,159,683 (GRCm39)	I129V	probably damaging	Het
Rhno1	T	C	6: 128,336,119 (GRCm39)	T39A	probably damaging	Het
Rps2	A	T	17: 24,940,810 (GRCm39)	R279*	probably null	Het
Ski	T	C	4: 155,244,344 (GRCm39)	K427R	probably damaging	Het
Slc23a3	ATT	ATTT	1: 75,109,925 (GRCm39)		probably null	Het
Slc26a7	C	T	4: 14,546,372 (GRCm39)	G319D	probably damaging	Het
Slc7a6os	A	G	8: 106,937,523 (GRCm39)	V8A	probably damaging	Het
Smim8	A	C	4: 34,771,265 (GRCm39)	I43S	probably damaging	Het
Sox5	T	C	6: 143,819,842 (GRCm39)	K400R	probably damaging	Het
Tab1	G	A	15: 80,032,943 (GRCm39)	V76M	probably damaging	Het
Taf2	A	C	15: 54,894,440 (GRCm39)		probably null	Het
Taf5	G	A	19: 47,059,434 (GRCm39)	V193M	probably damaging	Het
Tm2d1	A	T	4: 98,246,261 (GRCm39)	S180R	probably damaging	Het
Ttc12	A	G	9: 49,368,166 (GRCm39)	F287S	probably damaging	Het
Ubqln4	G	A	3: 88,473,185 (GRCm39)		probably null	Het
Ubr3	T	C	2: 69,839,497 (GRCm39)	V1537A	probably benign	Het
Ugt8a	A	G	3: 125,708,900 (GRCm39)	L70P	probably damaging	Het
Vps26a	A	T	10: 62,316,433 (GRCm39)	N51K	probably benign	Het
Xkr5	T	A	8: 18,990,749 (GRCm39)	T173S	probably benign	Het
Zfp354c	A	G	11: 50,706,239 (GRCm39)	C279R	probably damaging	Het
Zfp65	T	A	13: 67,856,478 (GRCm39)	H267L	probably damaging	Het

Other mutations in Pdgfc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Pdgfc	APN	3	81,048,750 (GRCm39)	missense	probably benign	0.01
IGL01467:Pdgfc	APN	3	81,116,398 (GRCm39)	missense	probably damaging	1.00
IGL01897:Pdgfc	APN	3	81,111,639 (GRCm39)	missense	possibly damaging	0.71
IGL02732:Pdgfc	APN	3	80,944,864 (GRCm39)	splice site	probably benign
PIT4403001:Pdgfc	UTSW	3	81,082,268 (GRCm39)	missense	probably damaging	1.00
R1505:Pdgfc	UTSW	3	81,116,543 (GRCm39)	missense	possibly damaging	0.89
R1619:Pdgfc	UTSW	3	81,082,194 (GRCm39)	missense	probably benign	0.03
R1964:Pdgfc	UTSW	3	81,082,292 (GRCm39)	missense	probably benign	0.34
R1975:Pdgfc	UTSW	3	81,116,552 (GRCm39)	missense	probably damaging	0.99
R1977:Pdgfc	UTSW	3	81,116,552 (GRCm39)	missense	probably damaging	0.99
R3705:Pdgfc	UTSW	3	81,111,751 (GRCm39)	critical splice donor site	probably null
R3775:Pdgfc	UTSW	3	81,048,858 (GRCm39)	missense	probably damaging	1.00
R3776:Pdgfc	UTSW	3	81,048,858 (GRCm39)	missense	probably damaging	1.00
R4381:Pdgfc	UTSW	3	81,116,558 (GRCm39)	missense	probably damaging	1.00
R4504:Pdgfc	UTSW	3	81,082,298 (GRCm39)	missense	probably benign
R4583:Pdgfc	UTSW	3	81,048,835 (GRCm39)	missense	possibly damaging	0.69
R7092:Pdgfc	UTSW	3	81,111,659 (GRCm39)	missense	probably damaging	1.00
R8196:Pdgfc	UTSW	3	80,944,811 (GRCm39)	missense	possibly damaging	0.57

Predicted Primers

PCR Primer
(F):5'- ATGTGGAAACTACCCTGCG -3'
(R):5'- GACTCAGGAAACTCCCATCTG -3'

Sequencing Primer
(F):5'- GGAAACTACCCTGCGATTCTCTG -3'
(R):5'- GGAAACTCCCATCTGCAGCG -3'

Posted On

2022-11-14