Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01536:Ppil3'

89965

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppil3

Ensembl Gene

ENSMUSG00000026035

Gene Name

peptidylprolyl isomerase (cyclophilin)-like 3

Synonyms

2310076N22Rik, 2510026K04Rik, Cyp10l

Accession Numbers

Essential gene?

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

Stock #

IGL01536

Quality Score

Status

Chromosome

Chromosomal Location

58470153-58484645 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 58483750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000112947 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081677] [ENSMUST00000087521] [ENSMUST00000114337] [ENSMUST00000114345] [ENSMUST00000114348] [ENSMUST00000117069] [ENSMUST00000185990] [ENSMUST00000190048] [ENSMUST00000151272] [ENSMUST00000171597] [ENSMUST00000129759]

AlphaFold

Q9D6L8

Predicted Effect

probably null
Transcript: ENSMUST00000081677
AA Change: M1V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000080378
Gene: ENSMUSG00000026035
AA Change: M1V

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 null
Transcript: ENSMUST00000114345
AA Change: M1V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000109984
Gene: ENSMUSG00000026035
AA Change: M1V

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

Predicted Effect

probably null
Transcript: ENSMUST00000114348
AA Change: M1V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000109988
Gene: ENSMUSG00000026035
AA Change: M1V

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

Predicted Effect

probably null
Transcript: ENSMUST00000117069
AA Change: M1V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000112947
Gene: ENSMUSG00000026035
AA Change: M1V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124550

Predicted Effect

probably null
Transcript: ENSMUST00000185990
AA Change: M1V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139979
Gene: ENSMUSG00000026035
AA Change: M1V

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

Predicted Effect

probably null
Transcript: ENSMUST00000190048
AA Change: M1V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139617
Gene: ENSMUSG00000026035
AA Change: M1V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188896

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140723

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171597

SMART Domains

Protein: ENSMUSP00000127501
Gene: ENSMUSG00000026036

Domain	Start	End	E-Value	Type
Pfam:NIF3	31	363	2.5e-77	PFAM

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

Coding Region Coverage

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp5f1a	T	C	18: 77,868,012 (GRCm39)		probably benign	Het
Ccnc	A	G	4: 21,732,505 (GRCm39)	I81V	probably benign	Het
Cep112	A	G	11: 108,422,237 (GRCm39)	D560G	probably null	Het
Dis3	A	G	14: 99,316,859 (GRCm39)	Y826H	probably damaging	Het
Dtx2	A	G	5: 136,038,940 (GRCm39)		probably benign	Het
Enpp4	T	C	17: 44,410,494 (GRCm39)	K361E	possibly damaging	Het
Erap1	A	T	13: 74,810,542 (GRCm39)	K294*	probably null	Het
Erbb4	T	A	1: 68,329,441 (GRCm39)	Y636F	probably benign	Het
Fads1	C	A	19: 10,171,394 (GRCm39)	Q342K	probably benign	Het
Fntb	A	T	12: 76,966,904 (GRCm39)	T447S	probably benign	Het
Hdac4	A	G	1: 91,857,868 (GRCm39)		probably benign	Het
Kcnh2	A	G	5: 24,531,522 (GRCm39)	I463T	probably damaging	Het
Kif13a	G	T	13: 46,905,765 (GRCm39)	T726K	probably damaging	Het
Lcmt1	T	C	7: 123,021,966 (GRCm39)	S275P	possibly damaging	Het
Lmnb1	T	C	18: 56,873,868 (GRCm39)	S425P	probably benign	Het
Lrp1b	T	C	2: 41,000,895 (GRCm39)	I2224V	probably benign	Het
Lrrc45	A	T	11: 120,606,410 (GRCm39)	T173S	probably benign	Het
Muc4	T	C	16: 32,584,340 (GRCm39)	Y2590H	possibly damaging	Het
Myo18a	C	T	11: 77,711,677 (GRCm39)	P676L	probably damaging	Het
Or5m10	T	C	2: 85,717,944 (GRCm39)	S267P	probably damaging	Het
Pcdhb15	T	C	18: 37,608,046 (GRCm39)	M426T	probably benign	Het
Pik3cd	A	G	4: 149,737,123 (GRCm39)	V891A	probably damaging	Het
Polr1b	A	G	2: 128,967,475 (GRCm39)	N956S	probably benign	Het
Rad1	T	A	15: 10,493,286 (GRCm39)	S238T	possibly damaging	Het
Shc3	A	C	13: 51,670,595 (GRCm39)	S51A	probably damaging	Het
Slc9c1	T	C	16: 45,409,992 (GRCm39)		probably null	Het
Smg5	A	G	3: 88,256,552 (GRCm39)	K273E	possibly damaging	Het
Sntg1	C	T	1: 8,653,424 (GRCm39)		probably null	Het
Sstr4	T	C	2: 148,237,800 (GRCm39)	L137P	probably damaging	Het
Taar8b	C	T	10: 23,967,493 (GRCm39)	V234I	probably benign	Het
Tbc1d9	A	G	8: 83,987,621 (GRCm39)	Y860C	probably damaging	Het
Tll1	A	T	8: 64,527,323 (GRCm39)	S399R	probably damaging	Het
Tns1	T	C	1: 73,958,807 (GRCm39)		probably benign	Het
Trim10	T	A	17: 37,188,180 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,562,695 (GRCm39)		probably null	Het
Usp43	T	C	11: 67,746,764 (GRCm39)	D981G	probably benign	Het
Vmn2r108	A	T	17: 20,683,543 (GRCm39)	C554S	probably damaging	Het
Vmn2r112	T	A	17: 22,824,136 (GRCm39)	Y464N	probably damaging	Het
Vmn2r31	T	C	7: 7,387,847 (GRCm39)	K575E	probably damaging	Het
Vmn2r50	C	T	7: 9,771,610 (GRCm39)	C697Y	probably damaging	Het
Zcchc8	A	C	5: 123,858,782 (GRCm39)		probably null	Het

Other mutations in Ppil3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02192:Ppil3	APN	1	58,477,547 (GRCm39)	missense	probably damaging	0.97
R1342:Ppil3	UTSW	1	58,480,037 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-12-03