Mutagenetix > Incidental Mutation

Incidental Mutation 'R7394:Ppia'

573679

Institutional Source

Beutler Lab

Gene Symbol

Ppia

Ensembl Gene

ENSMUSG00000071866

Gene Name

peptidylprolyl isomerase A

Synonyms

CypA, CyP-18, cyclophilin A, Cphn

MMRRC Submission

045476-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.619) question?

Stock #

R7394 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6365867-6369817 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6369218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 99 (S99P)

Ref Sequence

ENSEMBL: ENSMUSP00000117987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090749] [ENSMUST00000132846] [ENSMUST00000213200]

AlphaFold

P17742

Predicted Effect

probably benign
Transcript: ENSMUST00000090749

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132846
AA Change: S99P

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000117987
Gene: ENSMUSG00000071866
AA Change: S99P

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	7	163	1.7e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213200
AA Change: S91P

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (66/67)

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 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. The encoded protein is a cyclosporin binding-protein and may play a role in cyclosporin A-mediated immunosuppression. The protein can also interact with several HIV proteins, including p55 gag, Vpr, and capsid protein, and has been shown to be necessary for the formation of infectious HIV virions. Multiple pseudogenes that map to different chromosomes have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene tend to develop blepharitis (about 30% of mice) as well as inflammation in other organs. Some background dependent embryonic lethality occurs but adults are robust and live normal life spans. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	G	10: 100,445,038 (GRCm39)	I208V	probably benign	Het
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Aldh1l2	T	A	10: 83,338,321 (GRCm39)	I646F	probably damaging	Het
Alms1	C	T	6: 85,599,205 (GRCm39)	P1344S	possibly damaging	Het
Ank2	T	A	3: 126,730,302 (GRCm39)	I711L	possibly damaging	Het
Ankrd6	T	C	4: 32,821,298 (GRCm39)	N251D	probably damaging	Het
Ap3m1	T	C	14: 21,088,147 (GRCm39)	T304A	probably benign	Het
Arhgef39	T	C	4: 43,499,532 (GRCm39)	T26A	possibly damaging	Het
Carnmt1	G	T	19: 18,648,201 (GRCm39)		probably benign	Het
Ccr4	C	T	9: 114,320,994 (GRCm39)	R357H	probably benign	Het
Cd4	T	A	6: 124,850,004 (GRCm39)	M104L	probably benign	Het
Cd74	A	T	18: 60,936,965 (GRCm39)		probably benign	Het
Cdcp1	T	C	9: 123,002,878 (GRCm39)	Y731C	probably damaging	Het
Cdyl2	A	G	8: 117,350,790 (GRCm39)	S114P	not run	Het
Cenpv	T	C	11: 62,427,114 (GRCm39)	D148G	probably damaging	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cfap57	T	A	4: 118,450,334 (GRCm39)	Y596F	probably benign	Het
Clec4a2	C	A	6: 123,116,079 (GRCm39)	A122E	unknown	Het
Col4a2	A	G	8: 11,496,184 (GRCm39)	T1602A	probably benign	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Cyp2j11	A	T	4: 96,204,677 (GRCm39)	Y290N	probably benign	Het
Dhx38	A	T	8: 110,283,155 (GRCm39)	V554E	probably damaging	Het
Ebf2	T	C	14: 67,474,975 (GRCm39)	V70A	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fam217a	A	T	13: 35,094,262 (GRCm39)	I499K	possibly damaging	Het
Fras1	C	A	5: 96,860,309 (GRCm39)	Y2118*	probably null	Het
Gm3248	A	T	14: 5,945,781 (GRCm38)		probably null	Het
Gm5460	T	G	14: 33,765,879 (GRCm39)	D165E	possibly damaging	Het
Grk4	A	T	5: 34,908,962 (GRCm39)	N490Y	probably benign	Het
Iglc2	T	A	16: 19,013,886 (GRCm39)	K59*	probably null	Het
Iqsec3	T	A	6: 121,363,569 (GRCm39)	H895L	possibly damaging	Het
Itgb7	A	G	15: 102,127,689 (GRCm39)	S410P	probably damaging	Het
Kmt2d	C	A	15: 98,754,265 (GRCm39)	V1613F	unknown	Het
Lama1	T	C	17: 68,024,256 (GRCm39)	L118P		Het
Lrrc25	A	T	8: 71,070,830 (GRCm39)	S204C	possibly damaging	Het
Malrd1	A	G	2: 15,700,010 (GRCm39)	D619G	unknown	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Mup17	G	A	4: 61,512,635 (GRCm39)	S86F	probably benign	Het
Nbeal2	C	T	9: 110,459,257 (GRCm39)		probably null	Het
Nfkb1	A	C	3: 135,319,458 (GRCm39)	V291G	possibly damaging	Het
Nomo1	G	T	7: 45,715,903 (GRCm39)	V757F	probably benign	Het
Nutm2	T	A	13: 50,624,043 (GRCm39)	S247T	probably damaging	Het
Or2at1	C	A	7: 99,416,553 (GRCm39)	H61Q	probably damaging	Het
Or4c120	C	T	2: 89,000,705 (GRCm39)	V284I	probably benign	Het
Or4f4-ps1	G	T	2: 111,330,241 (GRCm39)	A215S	probably damaging	Het
Or7g12	T	A	9: 18,900,006 (GRCm39)	C241S	probably damaging	Het
Or9k2b	T	A	10: 130,016,123 (GRCm39)	I209F	probably damaging	Het
Pcdhb14	A	G	18: 37,581,961 (GRCm39)	I356V	probably benign	Het
Pnkp	T	A	7: 44,508,102 (GRCm39)	S142T	probably damaging	Het
Prss47	C	T	13: 65,192,807 (GRCm39)	V325I	probably benign	Het
Ptgr3	C	T	18: 84,106,315 (GRCm39)	A9V	probably benign	Het
Ptk7	T	C	17: 46,902,683 (GRCm39)	D34G	probably damaging	Het
Pwp2	C	T	10: 78,018,314 (GRCm39)	G126R	probably damaging	Het
Rasa3	G	T	8: 13,645,353 (GRCm39)	D195E	probably benign	Het
Rnf150	T	A	8: 83,717,100 (GRCm39)	Y202*	probably null	Het
Sh2d1b2	T	C	1: 170,075,716 (GRCm39)	V50A	probably damaging	Het
Slc30a4	C	T	2: 122,527,224 (GRCm39)	V390I	possibly damaging	Het
Slc30a9	G	T	5: 67,510,109 (GRCm39)		probably null	Het
Slc8a3	T	A	12: 81,260,832 (GRCm39)		probably null	Het
Smpd3	G	A	8: 106,991,642 (GRCm39)	R304W	probably damaging	Het
Snta1	A	G	2: 154,218,780 (GRCm39)	S490P	probably damaging	Het
Srcap	T	G	7: 127,134,000 (GRCm39)	M887R	probably damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Sult2a3	T	C	7: 13,845,449 (GRCm39)	T137A	probably benign	Het
Tspoap1	C	T	11: 87,656,945 (GRCm39)	Q367*	probably null	Het
Uroc1	C	T	6: 90,322,315 (GRCm39)	R280C	probably damaging	Het
Ush2a	T	C	1: 188,643,613 (GRCm39)	I4325T	possibly damaging	Het
Vmn1r32	A	G	6: 66,530,173 (GRCm39)	I201T	probably benign	Het
Zbtb47	T	A	9: 121,596,411 (GRCm39)	M626K	probably damaging	Het

Other mutations in Ppia

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6371:Ppia	UTSW	11	6,368,230 (GRCm39)	missense	probably benign	0.31
R7749:Ppia	UTSW	11	6,369,569 (GRCm39)	missense	probably benign	0.01
Z1176:Ppia	UTSW	11	6,369,600 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TTGGAGAGCAGTGCAGATATAC -3'
(R):5'- GACACAGCACTCTTACTGGC -3'

Sequencing Primer
(F):5'- CTGTGCCATATGTATATACACAGC -3'
(R):5'- GGCTCAATTTCCACTATCTTGAGAGG -3'

Posted On

2019-09-13