Mutagenetix > Incidental Mutation

Incidental Mutation 'R4539:Ppih'

333439

Institutional Source

Beutler Lab

Gene Symbol

Ppih

Ensembl Gene

ENSMUSG00000060288

Gene Name

peptidyl prolyl isomerase H

Synonyms

D4Wsu43e, 4833408F11Rik, rotamase H, 2010111B15Rik, cyclophilin H, 1100001J08Rik, CYP-20

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

R4539 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119157207-119177720 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119177656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 6 (S6P)

Ref Sequence

ENSEMBL: ENSMUSP00000101928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056458] [ENSMUST00000063642] [ENSMUST00000106317] [ENSMUST00000106318] [ENSMUST00000106319] [ENSMUST00000106321] [ENSMUST00000147077]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000056458
AA Change: S6P

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000051221
Gene: ENSMUSG00000060288
AA Change: S6P

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	14	176	5.8e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000063642

SMART Domains

Protein: ENSMUSP00000070621
Gene: ENSMUSG00000028637

Domain	Start	End	E-Value	Type
Pfam:DUF4686	170	547	5.1e-155	PFAM
low complexity region	555	568	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106317
AA Change: S6P

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101924
Gene: ENSMUSG00000060288
AA Change: S6P

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	14	170	2.4e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106318
AA Change: S6P

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101925
Gene: ENSMUSG00000060288
AA Change: S6P

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	14	176	5.8e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106319
AA Change: S6P

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000101926
Gene: ENSMUSG00000060288
AA Change: S6P

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	14	132	8.3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106321
AA Change: S6P

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101928
Gene: ENSMUSG00000060288
AA Change: S6P

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	14	176	5.8e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147077

SMART Domains

Protein: ENSMUSP00000118407
Gene: ENSMUSG00000060288

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	2	157	2.9e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154606

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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. This protein is a specific component of the complex that includes pre-mRNA processing factors PRPF3, PRPF4, and PRPF18, as well as U4/U5/U6 tri-snRNP. This protein has been shown to possess PPIase activity and may act as a protein chaperone that mediates the interactions between different proteins inside the spliceosome. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,765,793 (GRCm39)	T702A	probably benign	Het
Alms1	C	T	6: 85,597,460 (GRCm39)	T762I	possibly damaging	Het
Arhgef18	T	C	8: 3,497,070 (GRCm39)	M465T	probably benign	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Camta1	T	C	4: 151,169,269 (GRCm39)	I161V	probably benign	Het
Cpeb4	G	A	11: 31,823,206 (GRCm39)	G307S	probably damaging	Het
Eps8l1	T	C	7: 4,481,623 (GRCm39)	V707A	probably damaging	Het
Espn	G	A	4: 152,218,665 (GRCm39)	Q473*	probably null	Het
Fut9	A	T	4: 25,619,793 (GRCm39)	H340Q	probably damaging	Het
Gm11554	A	T	11: 99,695,186 (GRCm39)		probably benign	Het
Hcar2	A	G	5: 124,002,793 (GRCm39)	F237L	probably damaging	Het
Hectd4	T	A	5: 121,452,970 (GRCm39)	C492*	probably null	Het
Lrrk2	C	T	15: 91,613,345 (GRCm39)	P823L	possibly damaging	Het
Luzp2	A	T	7: 54,713,037 (GRCm39)	Q91L	probably damaging	Het
Mapkapk5	T	A	5: 121,675,218 (GRCm39)	H117L	possibly damaging	Het
Myh14	A	G	7: 44,276,478 (GRCm39)	L1209P	probably damaging	Het
Myo3b	T	G	2: 69,869,491 (GRCm39)	M1R	probably null	Het
Nacad	A	T	11: 6,550,677 (GRCm39)	V838E	possibly damaging	Het
Neurl1a	T	A	19: 47,245,183 (GRCm39)	S458T	probably damaging	Het
Pdzrn4	A	G	15: 92,668,470 (GRCm39)	D874G	probably damaging	Het
Phykpl	A	G	11: 51,484,915 (GRCm39)	T292A	probably damaging	Het
Piezo2	A	G	18: 63,219,699 (GRCm39)	Y1003H	probably damaging	Het
Qrich1	A	G	9: 108,411,399 (GRCm39)	E308G	probably damaging	Het
Setx	A	G	2: 29,069,760 (GRCm39)	T2522A	probably benign	Het
Slc26a8	A	T	17: 28,878,591 (GRCm39)	M332K	probably benign	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Sphkap	A	G	1: 83,255,514 (GRCm39)	V745A	probably benign	Het
Swi5	T	C	2: 32,169,092 (GRCm39)	N118S	possibly damaging	Het
Tenm2	T	C	11: 35,937,607 (GRCm39)	T1689A	probably damaging	Het
Ttll9	C	T	2: 152,836,011 (GRCm39)	R252C	probably damaging	Het
Vars2	T	A	17: 35,977,780 (GRCm39)	E80V	probably damaging	Het
Zbtb39	G	A	10: 127,578,061 (GRCm39)	D212N	possibly damaging	Het
Zfp418	C	A	7: 7,184,276 (GRCm39)	Q80K	probably benign	Het
Zscan25	A	G	5: 145,225,201 (GRCm39)	D259G	probably benign	Het

Other mutations in Ppih

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02006:Ppih	APN	4	119,168,779 (GRCm39)	splice site	probably benign
R0005:Ppih	UTSW	4	119,175,798 (GRCm39)	splice site	probably benign
R1625:Ppih	UTSW	4	119,175,779 (GRCm39)	missense	probably damaging	1.00
R4493:Ppih	UTSW	4	119,168,042 (GRCm39)	missense	probably damaging	0.99
R7883:Ppih	UTSW	4	119,167,987 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTCCACGAAGCTCGAAAG -3'
(R):5'- CAGACTTTGACAAAGATGCCTG -3'

Sequencing Primer
(F):5'- GCTCGAAAGCTCCCACCTC -3'
(R):5'- GACAAAGATGCCTGCGTTTC -3'

Posted On

2015-08-18