Mutagenetix > Incidental Mutation

Incidental Mutation 'R1056:Ppil4'

94382

Institutional Source

Beutler Lab

Gene Symbol

Ppil4

Ensembl Gene

ENSMUSG00000015757

Gene Name

peptidylprolyl isomerase (cyclophilin)-like 4

Synonyms

3732410E19Rik, 3830425H19Rik, PPIase

MMRRC Submission

039146-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.902) question?

Stock #

R1056 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7668653-7698329 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7675396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 182 (T182A)

Ref Sequence

ENSEMBL: ENSMUSP00000015901 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015901] [ENSMUST00000143214]

AlphaFold

Q9CXG3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015901
AA Change: T182A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000015901
Gene: ENSMUSG00000015757
AA Change: T182A

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	2	161	6.4e-40	PFAM
low complexity region	205	218	N/A	INTRINSIC
RRM	241	314	1.49e-22	SMART
low complexity region	321	333	N/A	INTRINSIC
low complexity region	374	389	N/A	INTRINSIC
low complexity region	435	449	N/A	INTRINSIC
low complexity region	467	492	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138151

Predicted Effect

probably benign
Transcript: ENSMUST00000143214

SMART Domains

Protein: ENSMUSP00000119332
Gene: ENSMUSG00000015757

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	2	67	1.8e-18	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,924,295 (GRCm39)	Y1649C	probably damaging	Het
Abcc10	A	C	17: 46,614,880 (GRCm39)	C1459W	possibly damaging	Het
Amfr	A	T	8: 94,712,097 (GRCm39)	F278I	probably benign	Het
Anks1b	G	T	10: 90,757,291 (GRCm39)		probably null	Het
Bak1	A	G	17: 27,240,247 (GRCm39)	S147P	possibly damaging	Het
Bltp1	C	A	3: 37,037,602 (GRCm39)	H2469N	possibly damaging	Het
Bltp1	T	A	3: 37,098,829 (GRCm39)	M1152K	probably benign	Het
C7	T	C	15: 5,075,260 (GRCm39)	N144S	possibly damaging	Het
Casd1	T	C	6: 4,641,967 (GRCm39)	V748A	probably benign	Het
Ccdc168	C	T	1: 44,100,087 (GRCm39)	G337D	probably damaging	Het
Ccdc180	T	C	4: 45,916,375 (GRCm39)	S859P	probably benign	Het
Ccne2	T	C	4: 11,192,707 (GRCm39)	S2P	probably damaging	Het
Cdc42bpg	T	A	19: 6,364,051 (GRCm39)	I541N	probably benign	Het
Cgnl1	T	A	9: 71,633,177 (GRCm39)	N58I	probably damaging	Het
Chd7	T	C	4: 8,822,402 (GRCm39)	S832P	possibly damaging	Het
Chl1	A	T	6: 103,652,038 (GRCm39)	Y318F	possibly damaging	Het
Coq2	G	T	5: 100,805,813 (GRCm39)	N274K	probably benign	Het
Crhr2	A	T	6: 55,077,720 (GRCm39)	V214E	probably damaging	Het
Dgkg	G	C	16: 22,419,291 (GRCm39)	P70A	probably damaging	Het
Dync2h1	T	C	9: 7,147,731 (GRCm39)	I966M	probably benign	Het
Eif5b	C	G	1: 38,061,248 (GRCm39)	R380G	unknown	Het
Fat4	T	A	3: 38,945,541 (GRCm39)	I1478N	probably damaging	Het
Impact	A	T	18: 13,109,581 (GRCm39)	I92L	probably benign	Het
Ly6c2	A	G	15: 74,983,445 (GRCm39)		probably null	Het
Lypd6b	G	A	2: 49,837,468 (GRCm39)	V147I	possibly damaging	Het
Mdga2	T	C	12: 66,769,894 (GRCm39)	D192G	probably damaging	Het
Mms22l	T	C	4: 24,586,344 (GRCm39)		probably null	Het
Myo9a	C	T	9: 59,739,484 (GRCm39)	T732I	possibly damaging	Het
Myrf	C	T	19: 10,200,850 (GRCm39)	M274I	probably benign	Het
Nfx1	G	A	4: 41,003,057 (GRCm39)	R686Q	probably damaging	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Oog4	T	C	4: 143,164,581 (GRCm39)	T245A	possibly damaging	Het
Or1a1b	C	T	11: 74,097,608 (GRCm39)	V145I	probably benign	Het
Or52e3	A	T	7: 102,869,625 (GRCm39)	E233D	probably benign	Het
Pclo	A	T	5: 14,590,069 (GRCm39)	K790*	probably null	Het
Pcm1	A	G	8: 41,774,937 (GRCm39)	E1668G	probably damaging	Het
Pkhd1l1	T	A	15: 44,455,360 (GRCm39)	N4040K	probably damaging	Het
Podnl1	T	A	8: 84,855,905 (GRCm39)	S222T	probably benign	Het
Prdm13	T	C	4: 21,678,544 (GRCm39)	K649E	probably damaging	Het
Prob1	A	T	18: 35,786,663 (GRCm39)	H530Q	probably benign	Het
Rbbp4	A	T	4: 129,211,442 (GRCm39)	M404K	probably damaging	Het
Rilpl1	A	T	5: 124,631,900 (GRCm39)	F149I	probably damaging	Het
Sema6c	T	A	3: 95,078,527 (GRCm39)	S543T	probably benign	Het
Sh3rf3	G	T	10: 58,842,904 (GRCm39)	W290L	probably damaging	Het
Slc2a12	T	G	10: 22,541,350 (GRCm39)	S402A	probably benign	Het
Tas2r131	T	A	6: 132,934,030 (GRCm39)	I260F	possibly damaging	Het
Tasp1	A	G	2: 139,850,684 (GRCm39)	I113T	possibly damaging	Het
Tnrc18	G	A	5: 142,759,614 (GRCm39)	R741*	probably null	Het
Ube2o	G	T	11: 116,437,290 (GRCm39)	D244E	probably damaging	Het
Vmn1r206	A	T	13: 22,804,784 (GRCm39)	M141K	probably benign	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp747	A	G	7: 126,973,760 (GRCm39)	S137P	probably benign	Het
Zfp951	A	T	5: 104,963,151 (GRCm39)	H138Q	possibly damaging	Het

Other mutations in Ppil4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02409:Ppil4	APN	10	7,674,328 (GRCm39)	intron	probably benign
IGL02504:Ppil4	APN	10	7,696,748 (GRCm39)	nonsense	probably null
R0105:Ppil4	UTSW	10	7,674,210 (GRCm39)	missense	probably damaging	1.00
R0105:Ppil4	UTSW	10	7,674,210 (GRCm39)	missense	probably damaging	1.00
R1743:Ppil4	UTSW	10	7,683,145 (GRCm39)	missense	probably damaging	1.00
R1776:Ppil4	UTSW	10	7,686,201 (GRCm39)	missense	probably benign	0.25
R3743:Ppil4	UTSW	10	7,696,935 (GRCm39)	missense	unknown
R3747:Ppil4	UTSW	10	7,690,457 (GRCm39)	missense	probably benign	0.07
R5634:Ppil4	UTSW	10	7,690,542 (GRCm39)	missense	probably benign
R5685:Ppil4	UTSW	10	7,674,186 (GRCm39)	missense	probably damaging	1.00
R5820:Ppil4	UTSW	10	7,686,174 (GRCm39)	missense	probably null	0.13
R6546:Ppil4	UTSW	10	7,674,186 (GRCm39)	missense	probably damaging	1.00
R8221:Ppil4	UTSW	10	7,671,444 (GRCm39)	missense	probably benign	0.32
R9495:Ppil4	UTSW	10	7,675,355 (GRCm39)	missense	probably damaging	1.00
R9698:Ppil4	UTSW	10	7,683,033 (GRCm39)	critical splice acceptor site	probably null
R9709:Ppil4	UTSW	10	7,675,341 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- AGGTCAGGGAATACTGTGCTGCTC -3'
(R):5'- GGTGCTAAAGAAACTTCCAAAGCACTG -3'

Sequencing Primer
(F):5'- CAAACCCTGTAGAGTCTTTGGGTAG -3'
(R):5'- gggggggaggTGAactc -3'

Posted On

2014-01-05