Mutagenetix > Incidental Mutation

Incidental Mutation 'R0068:Ppil1'

16302

Institutional Source

Beutler Lab

Gene Symbol

Ppil1

Ensembl Gene

ENSMUSG00000024007

Gene Name

peptidylprolyl isomerase (cyclophilin)-like 1

Synonyms

Cypl1, 1110060O10Rik

MMRRC Submission

038359-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.798) question?

Stock #

R0068 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

29469809-29482945 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29471230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 92 (F92I)

Ref Sequence

ENSEMBL: ENSMUSP00000024802 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024802] [ENSMUST00000135123]

AlphaFold

Q9D0W5

Predicted Effect

probably damaging
Transcript: ENSMUST00000024802
AA Change: F92I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000024802
Gene: ENSMUSG00000024007
AA Change: F92I

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	13	163	5.8e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135123

SMART Domains

Protein: ENSMUSP00000115705
Gene: ENSMUSG00000024007

Domain	Start	End	E-Value	Type
transmembrane domain	32	54	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136811

Meta Mutation Damage Score

0.5652

Coding Region Coverage

1x: 89.9%
3x: 97.6%
10x: 82.1%
20x: 74.0%

Validation Efficiency

94% (83/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cyclophilin family of peptidylprolyl isomerases (PPIases). The cyclophilins are a highly conserved, ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. Based on similarity to other PPIases, this protein could accelerate the folding of proteins and might catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,036,405 (GRCm39)	N568S	probably damaging	Het
Aldoart2	G	T	12: 55,612,233 (GRCm39)	E53*	probably null	Het
Ankra2	C	T	13: 98,409,891 (GRCm39)	Q137*	probably null	Het
Arpc1a	C	T	5: 145,028,054 (GRCm39)	T21I	possibly damaging	Het
Arvcf	T	C	16: 18,214,819 (GRCm39)		probably benign	Het
Ash1l	C	A	3: 88,914,624 (GRCm39)	S1751R	probably benign	Het
Bltp1	A	G	3: 37,006,370 (GRCm39)	T1675A	probably benign	Het
Bsn	C	A	9: 107,989,336 (GRCm39)	G2139C	probably damaging	Het
Cbl	A	T	9: 44,065,491 (GRCm39)	S22T	probably damaging	Het
Ccdc148	T	C	2: 58,717,629 (GRCm39)	E530G	probably benign	Het
Cct3	A	G	3: 88,225,772 (GRCm39)	D365G	probably benign	Het
Cep85	A	T	4: 133,881,606 (GRCm39)	H332Q	probably benign	Het
Cwf19l1	A	T	19: 44,119,938 (GRCm39)	Y68N	probably damaging	Het
Dlc1	T	A	8: 37,404,875 (GRCm39)	M305L	probably benign	Het
Dnm1l	C	A	16: 16,141,883 (GRCm39)	G288C	probably damaging	Het
Exoc7	T	C	11: 116,195,732 (GRCm39)	Y83C	probably damaging	Het
Fignl2	A	T	15: 100,952,129 (GRCm39)	I51N	probably damaging	Het
Flnb	A	G	14: 7,915,290 (GRCm38)	N1474D	possibly damaging	Het
Ghrhr	C	T	6: 55,357,849 (GRCm39)		probably benign	Het
Gucy1b1	T	C	3: 81,942,185 (GRCm39)	T525A	probably benign	Het
Hhip	T	G	8: 80,715,885 (GRCm39)	D557A	probably damaging	Het
Hps5	A	G	7: 46,426,466 (GRCm39)		probably benign	Het
Igsf10	A	T	3: 59,238,045 (GRCm39)	V712D	probably damaging	Het
Irf6	G	T	1: 192,848,067 (GRCm39)		probably benign	Het
Itpr3	T	C	17: 27,323,034 (GRCm39)		probably benign	Het
Jag2	A	G	12: 112,878,813 (GRCm39)		probably benign	Het
Kansl1l	A	G	1: 66,760,047 (GRCm39)	V911A	probably benign	Het
Kdm3b	C	T	18: 34,957,827 (GRCm39)	T1064I	probably benign	Het
Lrriq1	T	A	10: 102,899,279 (GRCm39)	Q1654L	probably benign	Het
Ltbp1	A	G	17: 75,666,404 (GRCm39)	T1366A	probably damaging	Het
Mroh1	A	G	15: 76,330,892 (GRCm39)		probably benign	Het
Napb	G	A	2: 148,540,843 (GRCm39)		probably benign	Het
Nebl	T	A	2: 17,439,782 (GRCm39)	R164*	probably null	Het
Npc1	G	C	18: 12,341,424 (GRCm39)	P532A	probably benign	Het
Nrp2	G	T	1: 62,784,536 (GRCm39)	K228N	possibly damaging	Het
Or13f5	T	A	4: 52,825,503 (GRCm39)	Y35*	probably null	Het
Plekhg1	A	T	10: 3,890,502 (GRCm39)	Y386F	probably damaging	Het
Pmfbp1	G	C	8: 110,269,011 (GRCm39)		probably benign	Het
Poln	T	C	5: 34,234,432 (GRCm39)		probably benign	Het
Polr1c	A	G	17: 46,555,829 (GRCm39)	V200A	probably benign	Het
Ptchd3	T	G	11: 121,733,798 (GRCm39)	L896R	probably damaging	Het
Rev3l	A	G	10: 39,700,827 (GRCm39)	N1775D	possibly damaging	Het
Robo4	G	A	9: 37,315,773 (GRCm39)	R342Q	probably benign	Het
Rusc2	T	C	4: 43,424,100 (GRCm39)		probably benign	Het
S100pbp	T	C	4: 129,038,249 (GRCm39)		probably benign	Het
Slc25a48	T	C	13: 56,599,024 (GRCm39)	V118A	probably damaging	Het
Slc38a10	T	C	11: 120,025,679 (GRCm39)	D219G	probably damaging	Het
Slc38a2	C	T	15: 96,589,173 (GRCm39)		probably null	Het
Slc39a12	A	G	2: 14,440,489 (GRCm39)	E480G	probably benign	Het
Tab2	C	A	10: 7,795,441 (GRCm39)	R347L	probably damaging	Het
Tas2r123	T	C	6: 132,824,955 (GRCm39)	I284T	possibly damaging	Het
Tex9	A	G	9: 72,394,051 (GRCm39)		probably benign	Het
Tifab	A	G	13: 56,324,218 (GRCm39)	L75P	probably damaging	Het
Tmc5	T	A	7: 118,233,460 (GRCm39)	D91E	probably benign	Het
Tnks1bp1	T	A	2: 84,892,696 (GRCm39)	D212E	probably benign	Het
Ugcg	A	G	4: 59,217,130 (GRCm39)	D218G	probably benign	Het
Zfp451	A	T	1: 33,816,706 (GRCm39)	L198I	probably damaging	Het

Other mutations in Ppil1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Ppil1	APN	17	29,470,675 (GRCm39)	missense	probably damaging	1.00
IGL01305:Ppil1	APN	17	29,482,862 (GRCm39)	missense	possibly damaging	0.55
IGL01638:Ppil1	APN	17	29,480,766 (GRCm39)	missense	probably benign	0.09
IGL01854:Ppil1	APN	17	29,482,862 (GRCm39)	missense	possibly damaging	0.55
IGL03367:Ppil1	APN	17	29,471,218 (GRCm39)	splice site	probably benign
ANU22:Ppil1	UTSW	17	29,482,862 (GRCm39)	missense	possibly damaging	0.55
R0068:Ppil1	UTSW	17	29,471,230 (GRCm39)	missense	probably damaging	0.98
R1716:Ppil1	UTSW	17	29,480,809 (GRCm39)	missense	possibly damaging	0.94
R6597:Ppil1	UTSW	17	29,480,852 (GRCm39)	missense	probably benign	0.01
R6598:Ppil1	UTSW	17	29,480,852 (GRCm39)	missense	probably benign	0.01
R7880:Ppil1	UTSW	17	29,480,762 (GRCm39)	missense	probably damaging	1.00
R8183:Ppil1	UTSW	17	29,481,053 (GRCm39)	splice site	probably null
R9607:Ppil1	UTSW	17	29,470,481 (GRCm39)	makesense	probably null

Posted On

2013-01-20