Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02388:Pdgfrl'

291650

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdgfrl

Ensembl Gene

ENSMUSG00000031595

Gene Name

platelet-derived growth factor receptor-like

Synonyms

1110039P19Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02388

Quality Score

Status

Chromosome

Chromosomal Location

41379270-41443819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41430094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 154 (R154G)

Ref Sequence

ENSEMBL: ENSMUSP00000034004 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034004]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034004
AA Change: R154G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034004
Gene: ENSMUSG00000031595
AA Change: R154G

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	39	53	N/A	INTRINSIC
IG_like	81	168	5.41e0	SMART
SCOP:d1fltx_	171	260	4e-23	SMART
IG	278	375	2.75e-1	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with significant sequence similarity to the ligand binding domain of platelet-derived growth factor receptor beta. Mutations in this gene, or deletion of a chromosomal segment containing this gene, are associated with sporadic hepatocellular carcinomas, colorectal cancers, and non-small cell lung cancers. This suggests this gene product may function as a tumor suppressor. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930597O21Rik	A	T	6: 66,873,097 (GRCm39)		probably benign	Het
Abca8a	A	G	11: 109,969,641 (GRCm39)		probably benign	Het
Asphd1	A	T	7: 126,545,884 (GRCm39)		probably benign	Het
Ccdc77	G	A	6: 120,308,858 (GRCm39)	A301V	probably benign	Het
Cep350	G	T	1: 155,829,499 (GRCm39)	T135K	probably benign	Het
Chrna7	A	T	7: 62,757,439 (GRCm39)	D153E	probably damaging	Het
Clec4b2	G	T	6: 123,179,187 (GRCm39)		probably null	Het
Cyp2c67	T	C	19: 39,631,799 (GRCm39)	N133D	probably benign	Het
Dglucy	T	C	12: 100,823,257 (GRCm39)	I484T	probably damaging	Het
Dtna	G	T	18: 23,730,571 (GRCm39)	M319I	probably benign	Het
E2f5	T	A	3: 14,653,340 (GRCm39)	M152K	probably benign	Het
Emsy	A	T	7: 98,290,873 (GRCm39)	M58K	probably damaging	Het
Epha1	A	G	6: 42,341,950 (GRCm39)	Y367H	probably damaging	Het
Etv1	A	G	12: 38,831,798 (GRCm39)	S32G	possibly damaging	Het
Fam114a1	A	T	5: 65,166,323 (GRCm39)		probably benign	Het
Fbxo30	T	A	10: 11,166,122 (GRCm39)	N281K	probably benign	Het
Galnt12	G	T	4: 47,117,941 (GRCm39)	R412L	probably damaging	Het
Gm5786	T	A	12: 59,128,382 (GRCm39)		noncoding transcript	Het
Gm9845	T	C	3: 39,412,616 (GRCm39)		noncoding transcript	Het
Hecw2	A	G	1: 53,964,858 (GRCm39)	V656A	probably benign	Het
Hpse2	A	T	19: 43,282,692 (GRCm39)	V187D	probably damaging	Het
Itsn2	T	A	12: 4,679,557 (GRCm39)	M122K	possibly damaging	Het
Kcnj11	A	G	7: 45,749,213 (GRCm39)	S37P	probably benign	Het
Kif13b	T	C	14: 65,037,807 (GRCm39)	I1491T	probably damaging	Het
Krt36	T	A	11: 99,995,990 (GRCm39)	K145*	probably null	Het
Loxhd1	A	G	18: 77,456,833 (GRCm39)	I499V	probably benign	Het
Map3k4	G	T	17: 12,490,497 (GRCm39)	N311K	probably damaging	Het
Mical2	C	A	7: 111,934,620 (GRCm39)	H880N	probably benign	Het
Myo1d	A	T	11: 80,528,823 (GRCm39)	C666*	probably null	Het
Nlrx1	C	T	9: 44,175,302 (GRCm39)	R158H	probably benign	Het
Or10ag53	T	A	2: 87,082,295 (GRCm39)	Y5N	probably benign	Het
Or10q1	C	A	19: 13,726,994 (GRCm39)	H175N	possibly damaging	Het
Or13a17	A	G	7: 140,271,024 (GRCm39)	T69A	probably benign	Het
Or1e21	A	T	11: 73,344,106 (GRCm39)	L311I	probably benign	Het
Or4a78	T	C	2: 89,497,316 (GRCm39)	S305G	probably benign	Het
Pitpnb	T	C	5: 111,478,699 (GRCm39)	F7S	possibly damaging	Het
Ppm1n	G	A	7: 19,013,097 (GRCm39)	R285C	probably damaging	Het
Prdm11	A	T	2: 92,805,957 (GRCm39)	I331N	possibly damaging	Het
Ptprb	C	T	10: 116,203,426 (GRCm39)	P2066L	probably damaging	Het
Ric8b	T	C	10: 84,828,135 (GRCm39)		probably benign	Het
Setx	A	G	2: 29,063,665 (GRCm39)	I2320M	probably damaging	Het
Skil	C	A	3: 31,165,787 (GRCm39)	S368*	probably null	Het
Slc1a5	G	T	7: 16,519,644 (GRCm39)		probably null	Het
Trpm7	A	C	2: 126,661,811 (GRCm39)	V1079G	possibly damaging	Het
Tulp1	A	G	17: 28,577,633 (GRCm39)	F2L	probably damaging	Het
Ulbp3	A	T	10: 3,075,050 (GRCm39)		noncoding transcript	Het
Zbtb17	A	G	4: 141,189,224 (GRCm39)	Y48C	probably damaging	Het
Zfp605	T	A	5: 110,275,506 (GRCm39)	I208N	possibly damaging	Het

Other mutations in Pdgfrl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Pdgfrl	APN	8	41,438,660 (GRCm39)	missense	probably damaging	1.00
IGL00863:Pdgfrl	APN	8	41,438,571 (GRCm39)	missense	probably damaging	1.00
IGL02811:Pdgfrl	APN	8	41,430,005 (GRCm39)	missense	probably damaging	0.99
IGL02973:Pdgfrl	APN	8	41,438,631 (GRCm39)	missense	probably damaging	1.00
R1711:Pdgfrl	UTSW	8	41,438,831 (GRCm39)	missense	probably benign	0.25
R3802:Pdgfrl	UTSW	8	41,438,594 (GRCm39)	missense	probably damaging	1.00
R9182:Pdgfrl	UTSW	8	41,429,996 (GRCm39)	missense	probably damaging	0.99
R9297:Pdgfrl	UTSW	8	41,391,268 (GRCm39)	missense	probably damaging	1.00
R9757:Pdgfrl	UTSW	8	41,379,454 (GRCm39)	missense	possibly damaging	0.63

Posted On

2015-04-16