Mutagenetix > Incidental Mutation

Incidental Mutation 'R8942:Pctp'

681056

Institutional Source

Beutler Lab

Gene Symbol

Pctp

Ensembl Gene

ENSMUSG00000020553

Gene Name

phosphatidylcholine transfer protein

Synonyms

StarD2, PC-TP

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R8942 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89873491-89893720 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89875554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 203 (M203T)

Ref Sequence

ENSEMBL: ENSMUSP00000020864 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020864
AA Change: M203T

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020864
Gene: ENSMUSG00000020553
AA Change: M203T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,790,732 (GRCm39)	D833E	probably damaging	Het
Adgrl3	A	T	5: 81,796,568 (GRCm39)	I626L	probably benign	Het
AI182371	A	C	2: 34,990,622 (GRCm39)	L25R	probably damaging	Het
Atp2b2	G	T	6: 113,790,991 (GRCm39)	Q138K	probably benign	Het
Atp8b5	T	C	4: 43,353,658 (GRCm39)	F491L	probably damaging	Het
Bcap29	T	A	12: 31,684,353 (GRCm39)	M1L	probably damaging	Het
C1qtnf7	A	G	5: 43,773,583 (GRCm39)	D294G	probably benign	Het
Ccdc170	C	T	10: 4,484,044 (GRCm39)	A290V	probably benign	Het
Cfhr2	A	T	1: 139,741,292 (GRCm39)	L228I	probably benign	Het
Clip4	T	A	17: 72,170,768 (GRCm39)	V645D	probably benign	Het
Cyp4a31	C	T	4: 115,426,918 (GRCm39)	R173W	possibly damaging	Het
Dis3l	T	C	9: 64,214,875 (GRCm39)	K898R	probably benign	Het
Efr3b	G	T	12: 4,032,091 (GRCm39)	H172Q	possibly damaging	Het
Eipr1	A	T	12: 28,917,053 (GRCm39)	N374Y	probably damaging	Het
Exoc3l4	A	T	12: 111,392,002 (GRCm39)	E414D	possibly damaging	Het
Exoc3l4	G	T	12: 111,392,003 (GRCm39)	V415L	probably benign	Het
Faap100	G	T	11: 120,267,856 (GRCm39)	H306N	possibly damaging	Het
Gapvd1	T	C	2: 34,619,134 (GRCm39)	T80A	probably benign	Het
Gen1	A	G	12: 11,292,287 (GRCm39)	S501P	probably benign	Het
Gm10643	A	G	8: 84,790,799 (GRCm39)		probably benign	Het
Hecw1	A	T	13: 14,481,395 (GRCm39)	V445D	probably benign	Het
Hells	CT	C	19: 38,942,045 (GRCm39)		probably null	Het
Hnrnpr	T	G	4: 136,059,791 (GRCm39)	D197E	possibly damaging	Het
Hspb1	G	A	5: 135,916,928 (GRCm39)	V6M	probably damaging	Het
Iglon5	A	G	7: 43,126,315 (GRCm39)	V196A	probably benign	Het
Ints2	T	C	11: 86,103,720 (GRCm39)	T1142A	probably benign	Het
Katnip	T	G	7: 125,449,975 (GRCm39)	L1013R	probably damaging	Het
Kcnq2	T	A	2: 180,724,244 (GRCm39)	D587V	probably damaging	Het
Lmln	C	T	16: 32,901,330 (GRCm39)	P242L	probably damaging	Het
Mapt	G	A	11: 104,173,307 (GRCm39)		probably null	Het
Mrgpre	T	C	7: 143,335,002 (GRCm39)	Y167C		Het
Mtx2	A	T	2: 74,699,696 (GRCm39)	I156F	probably benign	Het
Nipbl	A	T	15: 8,381,104 (GRCm39)	S563T	probably benign	Het
Nmbr	C	T	10: 14,646,197 (GRCm39)	S357L	probably benign	Het
Or10ak14	A	T	4: 118,611,594 (GRCm39)	I49N	possibly damaging	Het
Or4e1	A	C	14: 52,700,692 (GRCm39)	I258S	probably damaging	Het
Or4f14	T	A	2: 111,743,207 (GRCm39)	I23F	probably benign	Het
Or4f60	T	C	2: 111,902,802 (GRCm39)	N42S	probably damaging	Het
Or4k15b	A	C	14: 50,272,602 (GRCm39)	L86R	probably damaging	Het
Or4p4	C	T	2: 88,483,308 (GRCm39)	L271F	possibly damaging	Het
Pip4k2c	A	G	10: 127,036,084 (GRCm39)	V261A	probably benign	Het
Pm20d1	G	T	1: 131,739,785 (GRCm39)	V378F	possibly damaging	Het
Ppcdc	C	T	9: 57,342,265 (GRCm39)	R19H	probably benign	Het
Pramel26	T	C	4: 143,536,861 (GRCm39)	N490S	probably benign	Het
Sdk1	A	G	5: 142,082,598 (GRCm39)	E1332G	probably damaging	Het
Sgce	G	T	6: 4,730,027 (GRCm39)	L66M	probably benign	Het
Sycp2l	G	T	13: 41,277,522 (GRCm39)		probably null	Het
Tars1	G	T	15: 11,384,183 (GRCm39)	H695N	probably benign	Het
Tdo2	A	G	3: 81,876,851 (GRCm39)	V107A	probably benign	Het
Tmem131l	A	T	3: 83,805,793 (GRCm39)	M1550K	possibly damaging	Het
Ttf2	A	C	3: 100,869,042 (GRCm39)	S431R	probably benign	Het
Unc80	A	G	1: 66,512,468 (GRCm39)	D126G	possibly damaging	Het
Usp17lb	C	T	7: 104,490,583 (GRCm39)	V115I	possibly damaging	Het
Vezf1	A	G	11: 87,972,553 (GRCm39)	T305A	probably benign	Het
Vmn1r45	A	T	6: 89,910,876 (GRCm39)	N31K	probably benign	Het
Wdr59	T	C	8: 112,211,808 (GRCm39)	K380E	probably benign	Het
Xylt1	T	A	7: 117,233,971 (GRCm39)	Y499*	probably null	Het
Zfp777	T	C	6: 48,006,125 (GRCm39)	E467G	probably benign	Het
Zkscan4	C	A	13: 21,668,680 (GRCm39)	P406Q	probably benign	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
IGL01918:Pctp	APN	11	89,878,162 (GRCm39)	missense	probably benign	0.19
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
R9369:Pctp	UTSW	11	89,876,938 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCTGAGTATGACCATTGGG -3'
(R):5'- AAGTCTGTCTGCTCTGGGTC -3'

Sequencing Primer
(F):5'- TGGAGCCGATGGAGCTG -3'
(R):5'- GGGTCTTGCCTTCTGCCG -3'

Posted On

2021-08-31