Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01918:Pctp'

180026

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pctp

Ensembl Gene

ENSMUSG00000020553

Gene Name

phosphatidylcholine transfer protein

Synonyms

StarD2, PC-TP

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

IGL01918

Quality Score

Status

Chromosome

Chromosomal Location

89873491-89893720 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89878162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 124 (D124G)

Ref Sequence

ENSEMBL: ENSMUSP00000020864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020864]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020864
AA Change: D124G

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000020864
Gene: ENSMUSG00000020553
AA Change: D124G

Domain	Start	End	E-Value	Type
START	10	213	8.11e-52	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele display impaired biliary lipid secretion in response to a lithogenic diet, and show altered adaptive responses of macrophages to cholesterol loading. Mice heterozygous for a spontaneous allele show lack of phosphatidylcholine transfer protein activity. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted(3) Spontaneous(1)

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933421I07Rik	T	C	7: 42,097,098 (GRCm39)	Q71R	probably benign	Het
Ankfy1	T	C	11: 72,631,281 (GRCm39)	V409A	probably benign	Het
Ap4m1	A	G	5: 138,171,106 (GRCm39)	T69A	probably damaging	Het
B3gat2	A	T	1: 23,884,209 (GRCm39)	K306*	probably null	Het
Calr	A	G	8: 85,569,479 (GRCm39)		probably benign	Het
Ccdc54	C	T	16: 50,411,215 (GRCm39)	W17*	probably null	Het
Cd68	T	C	11: 69,555,927 (GRCm39)	S204G	possibly damaging	Het
Cep128	A	T	12: 91,200,984 (GRCm39)	I342K	probably damaging	Het
Ces1d	T	A	8: 93,904,703 (GRCm39)	I346L	probably benign	Het
Cfap70	T	A	14: 20,475,467 (GRCm39)	D418V	possibly damaging	Het
Cntnap4	A	T	8: 113,478,866 (GRCm39)	R197S	possibly damaging	Het
Ddx31	G	T	2: 28,764,176 (GRCm39)	V461F	probably damaging	Het
Eps15l1	T	C	8: 73,121,756 (GRCm39)	M714V	possibly damaging	Het
Fshb	A	T	2: 106,889,272 (GRCm39)	F11I	probably benign	Het
Fsip2	T	G	2: 82,822,482 (GRCm39)	C6072G	possibly damaging	Het
Fuz	T	G	7: 44,546,383 (GRCm39)	L93R	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm8991	G	A	5: 16,935,678 (GRCm39)		noncoding transcript	Het
Itga11	C	A	9: 62,680,278 (GRCm39)	N973K	probably benign	Het
Lca5	T	A	9: 83,305,201 (GRCm39)	T202S	probably damaging	Het
Lrp1	G	A	10: 127,390,458 (GRCm39)	L3053F	probably damaging	Het
Mapk13	T	C	17: 28,994,304 (GRCm39)	Y129H	probably damaging	Het
Mast1	T	A	8: 85,647,838 (GRCm39)	H512L	probably damaging	Het
Mlip	T	C	9: 77,081,281 (GRCm39)	N213S	probably damaging	Het
Mtcl1	C	T	17: 66,675,263 (GRCm39)	G734R	possibly damaging	Het
Myo9a	T	A	9: 59,686,985 (GRCm39)	I30N	probably damaging	Het
Or4b13	A	G	2: 90,082,675 (GRCm39)	I219T	probably damaging	Het
Phc3	A	G	3: 30,968,565 (GRCm39)		probably null	Het
Plat	T	A	8: 23,270,453 (GRCm39)	F457I	possibly damaging	Het
Snw1	T	C	12: 87,502,438 (GRCm39)	K319E	probably benign	Het
Sox8	A	G	17: 25,789,111 (GRCm39)	L129P	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Stc1	A	T	14: 69,269,103 (GRCm39)		probably benign	Het
Szt2	A	G	4: 118,241,450 (GRCm39)		probably benign	Het
Tmem81	T	A	1: 132,435,698 (GRCm39)	V168D	probably damaging	Het
Ttc41	C	A	10: 86,549,054 (GRCm39)	Q83K	probably damaging	Het
Ugt1a5	T	C	1: 88,094,267 (GRCm39)	V165A	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vps33b	A	G	7: 79,937,560 (GRCm39)		probably null	Het
Zap70	T	C	1: 36,817,868 (GRCm39)	Y290H	possibly damaging	Het

Other mutations in Pctp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01361:Pctp	APN	11	89,879,552 (GRCm39)	missense	probably damaging	1.00
IGL02799:Pctp	UTSW	11	89,881,913 (GRCm39)	missense	probably damaging	1.00
R0393:Pctp	UTSW	11	89,876,945 (GRCm39)	missense	probably benign	0.08
R1240:Pctp	UTSW	11	89,893,640 (GRCm39)	missense	probably benign	0.01
R1602:Pctp	UTSW	11	89,879,561 (GRCm39)	missense	probably damaging	1.00
R3950:Pctp	UTSW	11	89,878,144 (GRCm39)	missense	probably benign	0.26
R4563:Pctp	UTSW	11	89,879,578 (GRCm39)	missense	probably benign	0.03
R4703:Pctp	UTSW	11	89,878,099 (GRCm39)	missense	possibly damaging	0.91
R5958:Pctp	UTSW	11	89,876,945 (GRCm39)	missense	probably benign	0.08
R6218:Pctp	UTSW	11	89,878,144 (GRCm39)	missense	probably benign	0.26
R8942:Pctp	UTSW	11	89,875,554 (GRCm39)	missense	possibly damaging	0.86
R9369:Pctp	UTSW	11	89,876,938 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07