Mutagenetix > Incidental Mutation

Incidental Mutation 'R7749:Ppia'

597102

Institutional Source

Beutler Lab

Gene Symbol

Ppia

Ensembl Gene

ENSMUSG00000071866

Gene Name

peptidylprolyl isomerase A

Synonyms

CypA, CyP-18, cyclophilin A, Cphn

MMRRC Submission

045805-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.619) question?

Stock #

R7749 (G1)

Quality Score

171.009

Status

Validated

Chromosome

Chromosomal Location

6365867-6369817 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6369569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 152 (T152A)

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

probably benign
Transcript: ENSMUST00000132846
AA Change: T152A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000117987
Gene: ENSMUSG00000071866
AA Change: T152A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000213200
AA Change: T144A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr1a	A	T	19: 46,368,186 (GRCm39)	S254T	probably benign	Het
Adam12	G	A	7: 133,826,542 (GRCm39)	A22V	unknown	Het
Adarb2	A	G	13: 8,619,775 (GRCm39)	D87G	possibly damaging	Het
Aldh6a1	A	T	12: 84,488,855 (GRCm39)	I59N	probably benign	Het
Ankrd50	C	T	3: 38,536,870 (GRCm39)	C161Y	probably damaging	Het
Ankrd7	A	G	6: 18,879,515 (GRCm39)		probably null	Het
Anks1	T	A	17: 28,257,115 (GRCm39)	I707N	probably damaging	Het
Atoh1	A	T	6: 64,706,904 (GRCm39)	M200L	possibly damaging	Het
Bmp1	C	T	14: 70,730,284 (GRCm39)	R416H	probably damaging	Het
Caprin1	A	G	2: 103,602,099 (GRCm39)	S548P	probably benign	Het
Ccdc167	T	A	17: 29,924,247 (GRCm39)	Y63F	possibly damaging	Het
Cfap99	T	A	5: 34,465,284 (GRCm39)	D174E	probably benign	Het
Chil3	T	G	3: 106,056,161 (GRCm39)	N331T	probably benign	Het
Chmp5	T	A	4: 40,949,488 (GRCm39)	I35N	probably damaging	Het
Cpt1c	A	T	7: 44,611,689 (GRCm39)	S537T	probably benign	Het
Dctn1	A	T	6: 83,163,123 (GRCm39)		probably benign	Het
Dhx57	T	A	17: 80,546,287 (GRCm39)	M1366L	probably benign	Het
Dnah9	T	A	11: 65,802,656 (GRCm39)	Y3478F	probably damaging	Het
Efna3	A	G	3: 89,223,947 (GRCm39)	Y81H	probably damaging	Het
Eif4enif1	T	C	11: 3,192,608 (GRCm39)	V812A	probably damaging	Het
Erg	A	T	16: 95,178,216 (GRCm39)	I237N	probably benign	Het
Fem1c	G	T	18: 46,657,185 (GRCm39)	N176K	probably damaging	Het
Fgd4	T	C	16: 16,293,018 (GRCm39)	Y233C	probably benign	Het
Foxd2	G	A	4: 114,765,009 (GRCm39)	A337V	unknown	Het
Gsdma2	T	C	11: 98,548,547 (GRCm39)	L433P	unknown	Het
Hmcn2	C	A	2: 31,343,045 (GRCm39)		probably null	Het
Hnrnpul2	T	C	19: 8,797,788 (GRCm39)	V48A	probably benign	Het
Hsf1	T	A	15: 76,383,387 (GRCm39)	S396T	probably benign	Het
Htr5b	G	T	1: 121,455,487 (GRCm39)	N144K	probably damaging	Het
Igkv9-120	T	C	6: 68,027,172 (GRCm39)	S29P	probably damaging	Het
Igsf10	T	A	3: 59,236,549 (GRCm39)	N1211Y	possibly damaging	Het
Kcnh1	A	C	1: 191,959,447 (GRCm39)	I334L	probably benign	Het
Laptm4b	T	C	15: 34,276,346 (GRCm39)	I158T	probably benign	Het
Mgat4f	A	T	1: 134,318,250 (GRCm39)	M341L	probably benign	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Nav3	T	C	10: 109,539,213 (GRCm39)	T2063A	probably damaging	Het
Nceh1	T	A	3: 27,261,531 (GRCm39)	D47E	probably benign	Het
Nckap5	A	G	1: 125,952,383 (GRCm39)	S1390P	probably damaging	Het
Npepps	T	G	11: 97,158,454 (GRCm39)	I104L	probably benign	Het
Numb	A	G	12: 83,848,051 (GRCm39)	S229P	not run	Het
Opn1sw	T	A	6: 29,380,168 (GRCm39)	I83F	probably benign	Het
Or13p4	T	C	4: 118,547,425 (GRCm39)	S75G	probably damaging	Het
Or5b95	A	T	19: 12,657,576 (GRCm39)	I35F	probably benign	Het
Or5l13	G	A	2: 87,779,822 (GRCm39)	H252Y	probably damaging	Het
Pigg	T	G	5: 108,484,162 (GRCm39)	C603G	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pkhd1l1	C	A	15: 44,391,133 (GRCm39)	H1504N	probably benign	Het
Plcd4	A	G	1: 74,604,292 (GRCm39)	N757D	possibly damaging	Het
Psmd8	G	A	7: 28,878,346 (GRCm39)		probably null	Het
Pxn	T	A	5: 115,686,575 (GRCm39)	Y356N	probably benign	Het
Rhoa	G	C	9: 108,213,914 (GRCm39)	C159S	probably damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rita1	C	T	5: 120,749,506 (GRCm39)	C69Y	probably benign	Het
Satb1	A	G	17: 52,074,961 (GRCm39)	S512P	possibly damaging	Het
Sectm1b	A	G	11: 120,945,768 (GRCm39)	I191T	possibly damaging	Het
Slc22a6	A	G	19: 8,599,260 (GRCm39)	K297R	possibly damaging	Het
Snrnp48	T	C	13: 38,405,263 (GRCm39)	Y287H	probably benign	Het
Sntg2	A	T	12: 30,276,910 (GRCm39)	C381S	probably benign	Het
Syngap1	T	A	17: 27,178,938 (GRCm39)	M649K	probably damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Thap2	T	C	10: 115,212,289 (GRCm39)	I79V	probably damaging	Het
Thap7	T	C	16: 17,346,467 (GRCm39)	N172S	probably benign	Het
Ticrr	A	G	7: 79,328,844 (GRCm39)	Y661C	possibly damaging	Het
Ttn	T	C	2: 76,606,659 (GRCm39)	N18084D	probably damaging	Het
Usp48	A	T	4: 137,377,728 (GRCm39)	K1020M	probably damaging	Het
Vmn2r12	T	C	5: 109,233,920 (GRCm39)	N764S	probably damaging	Het
Vmn2r91	A	G	17: 18,356,540 (GRCm39)	I736V	possibly damaging	Het
Wfdc6b	T	A	2: 164,459,339 (GRCm39)	C134S	probably damaging	Het
Zcchc2	A	T	1: 105,946,003 (GRCm39)	D481V	probably damaging	Het
Zfp949	G	A	9: 88,451,923 (GRCm39)	G498R	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
R7394:Ppia	UTSW	11	6,369,218 (GRCm39)	missense	possibly damaging	0.77
Z1176:Ppia	UTSW	11	6,369,600 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CTCTCAAGATAGTGGAAATTGAGCC -3'
(R):5'- ATCCAGCTAGACTTGAAGGGG -3'

Sequencing Primer
(F):5'- AGCCAGTAAGAGTGCTGTGTC -3'
(R):5'- CCAGCTAGACTTGAAGGGGAATGAG -3'

Posted On

2019-11-26