Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01578:Ppic'

91342

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppic

Ensembl Gene

ENSMUSG00000024538

Gene Name

peptidylprolyl isomerase C

Synonyms

CyP-20c, cyclophilin C

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

IGL01578

Quality Score

Status

Chromosome

Chromosomal Location

53539413-53551079 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 53551001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 10 (P10S)

Ref Sequence

ENSEMBL: ENSMUSP00000025419 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025419]

AlphaFold

P30412

PDB Structure

Crystal structure of murine cyclophilin C complexed with immunosuppressive drug cyclosporin A [X-RAY DIFFRACTION]

Predicted Effect

unknown
Transcript: ENSMUST00000025419
AA Change: P10S

SMART Domains

Protein: ENSMUSP00000025419
Gene: ENSMUSG00000024538
AA Change: P10S

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Pro_isomerase	41	198	2e-49	PFAM

Coding Region Coverage

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 peptidyl-prolyl cis-trans isomerase (PPIase)) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. Similar to other PPIases, this protein can bind immunosuppressant cyclosporin A. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap28	G	A	17: 68,165,195 (GRCm39)	T516I	probably benign	Het
Birc6	T	C	17: 74,955,192 (GRCm39)	C3486R	probably benign	Het
Camk2g	G	A	14: 20,797,922 (GRCm39)		probably benign	Het
Cplane1	A	G	15: 8,300,194 (GRCm39)	E3167G	unknown	Het
Dmxl1	T	A	18: 50,095,272 (GRCm39)	H2950Q	probably damaging	Het
Eml6	A	T	11: 29,800,870 (GRCm39)	S379T	probably benign	Het
Epb41l3	C	T	17: 69,555,704 (GRCm39)	H13Y	probably damaging	Het
Fam149a	A	T	8: 45,803,479 (GRCm39)	D337E	probably damaging	Het
Galnt14	T	A	17: 73,842,361 (GRCm39)		probably benign	Het
Gm6489	G	T	1: 31,326,416 (GRCm39)		noncoding transcript	Het
Hspg2	G	A	4: 137,266,494 (GRCm39)	R1885H	probably damaging	Het
Jag1	T	A	2: 136,941,971 (GRCm39)		probably benign	Het
Nalcn	A	T	14: 123,809,503 (GRCm39)	N216K	probably benign	Het
Ndst1	T	C	18: 60,846,198 (GRCm39)	Y37C	probably damaging	Het
Nr2c2	A	G	6: 92,139,019 (GRCm39)	N486S	probably benign	Het
Obscn	A	T	11: 58,890,506 (GRCm39)	L7342Q	unknown	Het
Or13l2	A	T	3: 97,318,036 (GRCm39)	C154S	probably damaging	Het
Or56b2	A	G	7: 104,338,052 (GRCm39)	I277V	probably benign	Het
Or8k20	C	A	2: 86,106,085 (GRCm39)	V249F	probably damaging	Het
Pou4f2	A	C	8: 79,162,284 (GRCm39)	D106E	probably damaging	Het
Psd2	A	G	18: 36,112,838 (GRCm39)	T178A	probably damaging	Het
Ro60	A	T	1: 143,637,038 (GRCm39)	N391K	probably damaging	Het
Slc25a34	G	T	4: 141,349,821 (GRCm39)		probably null	Het
Stap2	A	G	17: 56,304,623 (GRCm39)	S360P	probably benign	Het
Stx3	T	C	19: 11,763,969 (GRCm39)	E129G	probably damaging	Het
Sun3	T	A	11: 8,979,436 (GRCm39)	E28D	probably damaging	Het
Tmem126a	C	T	7: 90,100,750 (GRCm39)		probably null	Het
Trpc6	A	T	9: 8,634,058 (GRCm39)	H379L	probably damaging	Het
Ttf2	A	G	3: 100,863,511 (GRCm39)	S608P	possibly damaging	Het
Tubgcp3	T	C	8: 12,711,297 (GRCm39)		probably benign	Het

Other mutations in Ppic

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Ppic	APN	18	53,542,366 (GRCm39)	missense	probably damaging	1.00
R0036:Ppic	UTSW	18	53,542,264 (GRCm39)	missense	probably damaging	1.00
R0403:Ppic	UTSW	18	53,544,143 (GRCm39)	missense	probably damaging	1.00
R1642:Ppic	UTSW	18	53,540,134 (GRCm39)	missense	probably damaging	1.00
R2394:Ppic	UTSW	18	53,544,119 (GRCm39)	missense	probably damaging	1.00
R5273:Ppic	UTSW	18	53,542,330 (GRCm39)	missense	probably damaging	1.00
R5870:Ppic	UTSW	18	53,542,333 (GRCm39)	missense	probably benign	0.00
R6770:Ppic	UTSW	18	53,544,657 (GRCm39)	missense	probably benign	0.18
R7357:Ppic	UTSW	18	53,544,139 (GRCm39)	missense	probably damaging	1.00
R8544:Ppic	UTSW	18	53,544,612 (GRCm39)	missense	probably damaging	1.00
R8825:Ppic	UTSW	18	53,542,222 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09