Mutagenetix > Incidental Mutation

Incidental Mutation 'R1342:Ppil3'

156383

Institutional Source

Beutler Lab

Gene Symbol

Ppil3

Ensembl Gene

ENSMUSG00000026035

Gene Name

peptidylprolyl isomerase (cyclophilin)-like 3

Synonyms

2310076N22Rik, 2510026K04Rik, Cyp10l

MMRRC Submission

039407-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R1342 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58470153-58484645 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58480037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 46 (I46N)

Ref Sequence

ENSEMBL: ENSMUSP00000139617 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081677] [ENSMUST00000087521] [ENSMUST00000114337] [ENSMUST00000114345] [ENSMUST00000114348] [ENSMUST00000117069] [ENSMUST00000185990] [ENSMUST00000190048] [ENSMUST00000129759] [ENSMUST00000151272]

AlphaFold

Q9D6L8

Predicted Effect

probably damaging
Transcript: ENSMUST00000081677
AA Change: I46N

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

SMART Domains

Protein: ENSMUSP00000080378
Gene: ENSMUSG00000026035
AA Change: I46N

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	2	154	3.9e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000087521

SMART Domains

Protein: ENSMUSP00000084799
Gene: ENSMUSG00000026036

Domain	Start	End	E-Value	Type
Pfam:NIF3	31	363	1.9e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114337

SMART Domains

Protein: ENSMUSP00000109976
Gene: ENSMUSG00000026036

Domain	Start	End	E-Value	Type
Pfam:NIF3	31	324	4e-61	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114345
AA Change: I46N

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

SMART Domains

Protein: ENSMUSP00000109984
Gene: ENSMUSG00000026035
AA Change: I46N

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	2	120	8.5e-45	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114348
AA Change: I46N

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

SMART Domains

Protein: ENSMUSP00000109988
Gene: ENSMUSG00000026035
AA Change: I46N

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	2	154	3.9e-53	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000117069
AA Change: I46N

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

SMART Domains

Protein: ENSMUSP00000112947
Gene: ENSMUSG00000026035
AA Change: I46N

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	2	154	5.2e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124550

Predicted Effect

probably damaging
Transcript: ENSMUST00000185990
AA Change: I46N

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

SMART Domains

Protein: ENSMUSP00000139979
Gene: ENSMUSG00000026035
AA Change: I46N

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	2	90	1.1e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000190048
AA Change: I46N

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

SMART Domains

Protein: ENSMUSP00000139617
Gene: ENSMUSG00000026035
AA Change: I46N

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	2	91	3.1e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188896

Predicted Effect

probably benign
Transcript: ENSMUST00000129759

SMART Domains

Protein: ENSMUSP00000124713
Gene: ENSMUSG00000026036

Domain	Start	End	E-Value	Type
Pfam:NIF3	31	154	2e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151272

SMART Domains

Protein: ENSMUSP00000123553
Gene: ENSMUSG00000026036

Domain	Start	End	E-Value	Type
Pfam:NIF3	31	131	3.1e-34	PFAM

Meta Mutation Damage Score

0.9450

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.6%

Validation Efficiency

100% (43/43)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cyclophilin family. Cyclophilins catalyze the cis-trans isomerization of peptidylprolyl imide bonds in oligopeptides. They have been proposed to act either as catalysts or as molecular chaperones in protein-folding events. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2008]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp10a	G	T	7: 58,465,894 (GRCm39)		probably benign	Het
B3gnt9	T	C	8: 105,980,956 (GRCm39)	E144G	probably null	Het
Bcl9	G	T	3: 97,113,042 (GRCm39)	Q1138K	possibly damaging	Het
C6	T	C	15: 4,769,231 (GRCm39)		probably benign	Het
Ccl4	A	G	11: 83,554,402 (GRCm39)		probably benign	Het
Cdc73	A	G	1: 143,578,230 (GRCm39)		probably null	Het
Cemip	A	T	7: 83,593,283 (GRCm39)	L1140*	probably null	Het
Chd4	C	A	6: 125,074,151 (GRCm39)	P8Q	probably benign	Het
Col27a1	G	A	4: 63,175,351 (GRCm39)		probably null	Het
Col9a1	G	A	1: 24,262,701 (GRCm39)		probably null	Het
Colgalt1	C	T	8: 72,070,804 (GRCm39)	T232I	probably damaging	Het
Dnah8	A	G	17: 30,939,974 (GRCm39)	D1640G	probably damaging	Het
Dot1l	T	G	10: 80,621,859 (GRCm39)	C504G	probably benign	Het
Gm9892	T	C	8: 52,649,458 (GRCm39)	T212A	probably benign	Het
Hjurp	G	A	1: 88,205,090 (GRCm39)		probably benign	Het
Ifnar2	A	G	16: 91,200,809 (GRCm39)	D350G	possibly damaging	Het
Ift172	T	C	5: 31,419,210 (GRCm39)	I1144V	probably benign	Het
Ipo7	A	T	7: 109,629,011 (GRCm39)	N94Y	possibly damaging	Het
Irag1	T	A	7: 110,487,252 (GRCm39)	M699L	probably benign	Het
Mapkbp1	C	A	2: 119,829,015 (GRCm39)	A57D	possibly damaging	Het
Mmd	T	A	11: 90,167,676 (GRCm39)	I235N	probably benign	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Palld	A	G	8: 61,975,916 (GRCm39)		probably null	Het
Parp4	G	A	14: 56,827,854 (GRCm39)	E202K	probably damaging	Het
Pclo	C	A	5: 14,732,191 (GRCm39)		probably benign	Het
Pde8a	T	C	7: 80,952,042 (GRCm39)		probably null	Het
Pdgfrb	T	A	18: 61,198,952 (GRCm39)	L370*	probably null	Het
Phf2	A	T	13: 48,957,953 (GRCm39)	S1020R	unknown	Het
Pik3r4	T	A	9: 105,528,100 (GRCm39)		probably null	Het
Plxnb1	C	A	9: 108,929,720 (GRCm39)	P192Q	possibly damaging	Het
Prr14l	A	C	5: 32,987,604 (GRCm39)	C630W	probably damaging	Het
Rfx5	A	G	3: 94,865,723 (GRCm39)	I341V	probably benign	Het
Ryr3	T	C	2: 112,581,148 (GRCm39)	K2895E	probably damaging	Het
Slc5a12	T	C	2: 110,447,435 (GRCm39)		probably null	Het
Slc8a3	T	C	12: 81,362,790 (GRCm39)	T10A	probably damaging	Het
Ss18	A	G	18: 14,769,595 (GRCm39)	Y321H	unknown	Het
Sspo	A	G	6: 48,438,569 (GRCm39)	N1546D	probably benign	Het
Thbs4	G	A	13: 92,888,925 (GRCm39)	L923F	probably damaging	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het

Other mutations in Ppil3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01536:Ppil3	APN	1	58,483,750 (GRCm39)	start codon destroyed	probably null	0.01
IGL02192:Ppil3	APN	1	58,477,547 (GRCm39)	missense	probably damaging	0.97
R3161:Ppil3	UTSW	1	58,473,573 (GRCm39)	missense	probably benign	0.01
R4564:Ppil3	UTSW	1	58,470,481 (GRCm39)	missense	probably damaging	0.96
R4734:Ppil3	UTSW	1	58,470,428 (GRCm39)	missense	probably benign	0.00
R5129:Ppil3	UTSW	1	58,479,992 (GRCm39)	splice site	probably benign
R7782:Ppil3	UTSW	1	58,473,574 (GRCm39)	missense	probably benign	0.00
R7789:Ppil3	UTSW	1	58,473,538 (GRCm39)	missense	possibly damaging	0.93
R8176:Ppil3	UTSW	1	58,480,078 (GRCm39)	nonsense	probably null
R9449:Ppil3	UTSW	1	58,470,397 (GRCm39)	missense	probably benign
Z1177:Ppil3	UTSW	1	58,480,053 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTCCTTGCACACATGCAGGTAAAAC -3'
(R):5'- TCCCAAGAGCTGATCCTAACAGTCG -3'

Sequencing Primer
(F):5'- CACATGCAGGTAAAACTCTTAAAAG -3'
(R):5'- CCTAACAGTCGTAGTTAAATGTGC -3'

Posted On

2014-02-11