Mutagenetix > Incidental Mutations

Incidental Mutation 'R0036:Ppic'

15433

Institutional Source

Beutler Lab

Gene Symbol

Ppic

Ensembl Gene

ENSMUSG00000024538

Gene Name

peptidylprolyl isomerase C

Synonyms

CyP-20c, cyclophilin C

MMRRC Submission

038330-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R0036 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

53406341-53418007 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53409192 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 148 (I148N)

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

probably damaging
Transcript: ENSMUST00000025419
AA Change: I148N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025419
Gene: ENSMUSG00000024538
AA Change: I148N

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

Meta Mutation Damage Score

0.9573

Coding Region Coverage

1x: 79.1%
3x: 69.3%
10x: 43.3%
20x: 23.5%

Validation Efficiency

91% (49/54)

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028P14Rik	A	T	19: 23,616,568		probably benign	Het
Cfap44	A	G	16: 44,439,069	E1098G	possibly damaging	Het
Ctsq	C	T	13: 61,037,671		probably null	Het
Dock9	C	T	14: 121,622,853	V886M	probably damaging	Het
Eaf2	T	C	16: 36,800,658	Y224C	probably benign	Het
Eif5b	T	A	1: 38,019,111	S165T	probably benign	Het
Eln	A	G	5: 134,711,060		probably null	Het
Jakmip1	A	G	5: 37,134,304	K514R	probably null	Het
Myo1e	T	A	9: 70,341,308	W435R	probably damaging	Het
Nadsyn1	T	C	7: 143,811,291	I226V	probably benign	Het
Nedd4l	T	C	18: 65,051,123		probably benign	Het
Phrf1	T	C	7: 141,261,780	M1435T	probably damaging	Het
Sdr16c6	C	A	4: 4,063,335		probably benign	Het
Sgo2a	T	C	1: 58,015,628	S324P	probably benign	Het
Slf1	G	T	13: 77,100,951	Q373K	probably benign	Het
Tfg	G	T	16: 56,690,995	Q324K	probably benign	Het
Wdr64	G	T	1: 175,728,930	G248*	probably null	Het

Other mutations in Ppic

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Ppic	APN	18	53409294	missense	probably damaging	1.00
IGL01578:Ppic	APN	18	53417929	missense	unknown
R0403:Ppic	UTSW	18	53411071	missense	probably damaging	1.00
R1642:Ppic	UTSW	18	53407062	missense	probably damaging	1.00
R2394:Ppic	UTSW	18	53411047	missense	probably damaging	1.00
R5273:Ppic	UTSW	18	53409258	missense	probably damaging	1.00
R5870:Ppic	UTSW	18	53409261	missense	probably benign	0.00
R6770:Ppic	UTSW	18	53411585	missense	probably benign	0.18
R7357:Ppic	UTSW	18	53411067	missense	probably damaging	1.00
R8544:Ppic	UTSW	18	53411540	missense	probably damaging	1.00
R8825:Ppic	UTSW	18	53409150	missense	probably damaging	1.00

Posted On

2012-12-21