Mutagenetix > Incidental Mutation

Incidental Mutation 'R3161:Ppil3'

258140

Institutional Source

Beutler Lab

Gene Symbol

Ppil3

Ensembl Gene

ENSMUSG00000026035

Gene Name

peptidylprolyl isomerase (cyclophilin)-like 3

Synonyms

2310076N22Rik, 2510026K04Rik, Cyp10l

MMRRC Submission

040612-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R3161 (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 58473573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 92 (N92K)

Ref Sequence

ENSEMBL: ENSMUSP00000112947 (fasta)

Gene Model

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

AlphaFold

Q9D6L8

Predicted Effect

probably benign
Transcript: ENSMUST00000081677
AA Change: N92K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000080378
Gene: ENSMUSG00000026035
AA Change: N92K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114345
AA Change: N92K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000109984
Gene: ENSMUSG00000026035
AA Change: N92K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114348
AA Change: N92K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000109988
Gene: ENSMUSG00000026035
AA Change: N92K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000117069
AA Change: N92K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000112947
Gene: ENSMUSG00000026035
AA Change: N92K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124550

Predicted Effect

probably benign
Transcript: ENSMUST00000185990

SMART Domains

Protein: ENSMUSP00000139979
Gene: ENSMUSG00000026035

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188896

Predicted Effect

probably benign
Transcript: ENSMUST00000190048

SMART Domains

Protein: ENSMUSP00000139617
Gene: ENSMUSG00000026035

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

Meta Mutation Damage Score

0.1061

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

98% (54/55)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 64,053,833 (GRCm39)		probably benign	Het
1700066M21Rik	T	A	1: 57,422,234 (GRCm39)	N203K	probably benign	Het
Adcy9	A	G	16: 4,129,452 (GRCm39)	L715P	probably damaging	Het
Adgrl2	G	A	3: 148,523,187 (GRCm39)	L1354F	probably damaging	Het
Amer2	A	G	14: 60,616,000 (GRCm39)	D65G	probably damaging	Het
Aox1	G	T	1: 58,343,597 (GRCm39)	V427L	possibly damaging	Het
Atad2b	C	A	12: 4,989,689 (GRCm39)	N133K	possibly damaging	Het
Bptf	A	T	11: 106,965,302 (GRCm39)	D1182E	probably damaging	Het
Camk1g	T	C	1: 193,042,115 (GRCm39)	T45A	possibly damaging	Het
Caps2	C	A	10: 112,018,391 (GRCm39)	Y180*	probably null	Het
Cfap54	T	A	10: 92,881,140 (GRCm39)	K349N	probably damaging	Het
Chct1	A	G	11: 85,064,110 (GRCm39)	S84G	probably damaging	Het
Ciz1	A	G	2: 32,260,075 (GRCm39)	D207G	probably benign	Het
Copa	T	A	1: 171,918,800 (GRCm39)	C127S	probably damaging	Het
Crabp2	A	T	3: 87,859,484 (GRCm39)	K45*	probably null	Het
Daam1	C	A	12: 71,993,872 (GRCm39)	T425K	unknown	Het
Dapk2	T	G	9: 66,161,893 (GRCm39)	V267G	probably damaging	Het
Disp1	T	C	1: 182,868,806 (GRCm39)	K1205E	probably benign	Het
Dlg4	G	C	11: 69,908,051 (GRCm39)	R4T	probably damaging	Het
Fbf1	A	G	11: 116,039,046 (GRCm39)	I743T	probably damaging	Het
Fen1	A	G	19: 10,177,655 (GRCm39)	L263P	probably damaging	Het
G6pc2	A	G	2: 69,050,456 (GRCm39)	N27S	probably damaging	Het
Garnl3	A	T	2: 32,924,723 (GRCm39)	N246K	probably damaging	Het
Gm7337	A	C	5: 87,999,416 (GRCm39)		noncoding transcript	Het
Gpr152	A	G	19: 4,192,713 (GRCm39)	T85A	probably benign	Het
Hnrnpu	T	C	1: 178,158,690 (GRCm39)		probably benign	Het
Ighv1-81	C	G	12: 115,883,949 (GRCm39)	E101Q	probably benign	Het
Ipo9	T	C	1: 135,337,214 (GRCm39)	T174A	probably benign	Het
Myo9a	C	T	9: 59,739,598 (GRCm39)		probably benign	Het
Nup155	G	T	15: 8,177,867 (GRCm39)	R1083S	possibly damaging	Het
Or11g24	T	A	14: 50,662,488 (GRCm39)	C171S	probably damaging	Het
Or5an1c	T	C	19: 12,218,860 (GRCm39)	H55R	probably benign	Het
Or6d13	C	T	6: 116,517,807 (GRCm39)	A131V	probably damaging	Het
Or7a35	C	A	10: 78,853,438 (GRCm39)	T94N	probably benign	Het
Phyh	T	A	2: 4,942,482 (GRCm39)		probably benign	Het
Pkp4	G	T	2: 59,138,449 (GRCm39)	R233M	probably damaging	Het
Plcb1	A	T	2: 135,177,402 (GRCm39)	Q578L	probably benign	Het
Prokr1	C	T	6: 87,565,413 (GRCm39)	R144H	probably damaging	Het
Psap	T	C	10: 60,113,575 (GRCm39)	L4P	possibly damaging	Het
Rai14	T	C	15: 10,633,250 (GRCm39)	T47A	possibly damaging	Het
Rps2	G	T	17: 24,939,952 (GRCm39)	A129S	probably benign	Het
Sult2a4	T	C	7: 13,723,396 (GRCm39)	T40A	probably benign	Het
Tacr2	A	G	10: 62,101,024 (GRCm39)	D378G	probably benign	Het
Topaz1	T	C	9: 122,578,446 (GRCm39)	I452T	probably benign	Het
Ttn	A	G	2: 76,663,581 (GRCm39)		probably benign	Het
Vmn2r115	T	A	17: 23,575,998 (GRCm39)	M532K	possibly damaging	Het
Vmn2r117	A	G	17: 23,679,352 (GRCm39)	L624P	probably damaging	Het
Vstm5	T	G	9: 15,168,594 (GRCm39)	S53A	probably benign	Het
Wipf1	C	T	2: 73,265,293 (GRCm39)	E437K	probably damaging	Het
Wls	G	T	3: 159,603,073 (GRCm39)	C162F	probably damaging	Het
Yeats2	T	C	16: 20,012,395 (GRCm39)	V531A	probably damaging	Het
Zfp868	A	G	8: 70,064,736 (GRCm39)	S200P	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
R1342:Ppil3	UTSW	1	58,480,037 (GRCm39)	missense	probably damaging	1.00
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'- AACTTCCTCAGGGGCTGATG -3'
(R):5'- AAGTGTCTGTGACTGCTTCTTC -3'

Sequencing Primer
(F):5'- CCAGGGCGTTTAGTTGTGGAAC -3'
(R):5'- GTCTGTGACTGCTTCTTCAAAATG -3'

Posted On

2015-01-23