Mutagenetix > Incidental Mutation

Incidental Mutation 'R1109:Ppid'

98605

Institutional Source

Beutler Lab

Gene Symbol

Ppid

Ensembl Gene

ENSMUSG00000027804

Gene Name

peptidylprolyl isomerase D (cyclophilin D)

Synonyms

CYP-40, cytoplasmic cyclophilin D, Ppidl, 4930564J03Rik, cyclophilin 40

MMRRC Submission

039182-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.785) question?

Stock #

R1109 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79498649-79510957 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79506168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 198 (S198P)

Ref Sequence

ENSEMBL: ENSMUSP00000029382 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029382] [ENSMUST00000029386] [ENSMUST00000120992]

AlphaFold

Q9CR16

Predicted Effect

probably benign
Transcript: ENSMUST00000029382
AA Change: S198P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000029382
Gene: ENSMUSG00000027804
AA Change: S198P

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	19	183	1.5e-49	PFAM
low complexity region	208	222	N/A	INTRINSIC
TPR	223	256	1.78e-1	SMART
TPR	273	306	2.59e-3	SMART
TPR	307	340	2.82e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000029386

SMART Domains

Protein: ENSMUSP00000029386
Gene: ENSMUSG00000027809

Domain	Start	End	E-Value	Type
Pfam:Thi4	57	123	5.3e-9	PFAM
Pfam:FAD_binding_2	69	120	1.7e-7	PFAM
Pfam:Lycopene_cycl	69	125	5.7e-8	PFAM
Pfam:NAD_binding_8	72	122	9.7e-8	PFAM
Pfam:ETF_QO	511	614	1.1e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120992

SMART Domains

Protein: ENSMUSP00000113888
Gene: ENSMUSG00000027809

Domain	Start	End	E-Value	Type
Pfam:Thi4	1	63	2e-8	PFAM
Pfam:FAD_binding_2	9	59	4.7e-8	PFAM
Pfam:Pyr_redox_2	9	209	1.7e-7	PFAM
Pfam:NAD_binding_9	11	56	2.1e-7	PFAM
Pfam:NAD_binding_8	12	61	2.8e-8	PFAM
Pfam:ETF_QO	402	511	3e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159505

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160799

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161460

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161876

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162690

Meta Mutation Damage Score

0.0807

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 88.9%

Validation Efficiency

100% (80/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is 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. This protein has been shown to possess PPIase activity and, similar to other family members, can bind to the immunosuppressant cyclosporin A. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	T	G	3: 121,573,245 (GRCm39)	E262D	probably damaging	Het
Abcg1	G	A	17: 31,330,210 (GRCm39)	A504T	probably benign	Het
Acot11	T	C	4: 106,606,545 (GRCm39)	T515A	probably benign	Het
Alg8	A	T	7: 97,032,891 (GRCm39)		probably null	Het
Arhgap44	T	A	11: 64,917,642 (GRCm39)	H375L	probably benign	Het
Aspm	A	T	1: 139,384,496 (GRCm39)	I98F	probably damaging	Het
Atp8b5	T	C	4: 43,305,719 (GRCm39)		probably benign	Het
Coa3	T	C	11: 101,169,611 (GRCm39)	K48R	probably damaging	Het
Col12a1	A	G	9: 79,607,005 (GRCm39)	S473P	probably damaging	Het
Dnmt1	A	T	9: 20,833,684 (GRCm39)	Y451N	probably damaging	Het
Dock5	A	G	14: 68,043,927 (GRCm39)	Y819H	possibly damaging	Het
Dtx1	G	A	5: 120,848,484 (GRCm39)		probably benign	Het
Dus2	T	A	8: 106,780,114 (GRCm39)	F479I	probably benign	Het
Elp1	T	C	4: 56,786,723 (GRCm39)	T407A	probably benign	Het
Esrp1	T	C	4: 11,365,205 (GRCm39)	E262G	probably damaging	Het
Exoc4	A	G	6: 33,418,951 (GRCm39)	Y466C	probably damaging	Het
Fasn	A	G	11: 120,703,150 (GRCm39)	F1625S	possibly damaging	Het
Fbxw25	A	T	9: 109,479,128 (GRCm39)	H374Q	probably benign	Het
Focad	T	C	4: 88,114,984 (GRCm39)		probably benign	Het
Gad2	G	T	2: 22,571,406 (GRCm39)	R448L	probably damaging	Het
Gad2	G	A	2: 22,580,171 (GRCm39)		probably benign	Het
Galnt16	G	T	12: 80,637,405 (GRCm39)	E377D	probably benign	Het
Gcc1	A	C	6: 28,419,166 (GRCm39)	L389R	probably damaging	Het
Ggct	A	T	6: 54,966,554 (GRCm39)		probably benign	Het
Gm7052	G	A	17: 22,259,133 (GRCm39)		probably benign	Het
Gps2	T	A	11: 69,806,507 (GRCm39)	H177Q	possibly damaging	Het
Heg1	T	A	16: 33,583,961 (GRCm39)	L1256Q	probably damaging	Het
Il36a	G	A	2: 24,106,602 (GRCm39)	G62E	probably damaging	Het
Il3ra	C	T	14: 14,349,317 (GRCm38)	R138W	probably damaging	Het
Itprid1	G	T	6: 55,945,245 (GRCm39)	K655N	probably damaging	Het
Kdm4b	T	A	17: 56,706,430 (GRCm39)	I848N	probably damaging	Het
L3hypdh	A	G	12: 72,120,770 (GRCm39)	V327A	possibly damaging	Het
Lepr	G	T	4: 101,628,552 (GRCm39)	L552F	probably damaging	Het
Lpin3	T	C	2: 160,740,941 (GRCm39)	I449T	probably damaging	Het
Lrrn1	A	G	6: 107,544,225 (GRCm39)	K8E	probably benign	Het
Mex3a	G	T	3: 88,443,967 (GRCm39)	D348Y	possibly damaging	Het
Mindy2	G	A	9: 70,538,361 (GRCm39)	R325*	probably null	Het
Mkrn1	A	T	6: 39,376,268 (GRCm39)	M382K	probably damaging	Het
Mroh1	G	T	15: 76,330,709 (GRCm39)		probably benign	Het
Myo15a	T	A	11: 60,383,892 (GRCm39)	D1646E	probably damaging	Het
Neu2	A	G	1: 87,524,450 (GRCm39)	D145G	probably damaging	Het
Obi1	A	T	14: 104,717,200 (GRCm39)	L391*	probably null	Het
Or10ah1-ps1	A	T	5: 143,123,374 (GRCm39)	N216K	probably benign	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or2w3b	T	C	11: 58,623,742 (GRCm39)	Y83C	probably benign	Het
Plekhm2	T	A	4: 141,355,295 (GRCm39)	I938F	probably benign	Het
Pnma8a	A	T	7: 16,695,392 (GRCm39)	K416*	probably null	Het
Rabl6	G	T	2: 25,477,538 (GRCm39)	P304Q	probably damaging	Het
Rasal2	A	T	1: 157,005,208 (GRCm39)		probably benign	Het
Ripor1	G	T	8: 106,345,560 (GRCm39)		probably benign	Het
Rnf216	A	T	5: 143,054,124 (GRCm39)	L658Q	probably damaging	Het
Safb	T	A	17: 56,908,228 (GRCm39)		probably benign	Het
Sf3b5	T	C	10: 12,884,497 (GRCm39)	M44T	probably benign	Het
Slc26a9	A	T	1: 131,686,536 (GRCm39)	M419L	probably benign	Het
Slc38a8	T	C	8: 120,209,394 (GRCm39)	D393G	probably benign	Het
Slc6a3	A	G	13: 73,705,199 (GRCm39)	D230G	probably benign	Het
Smc1b	T	C	15: 84,997,016 (GRCm39)	T535A	probably damaging	Het
Smg7	G	C	1: 152,721,334 (GRCm39)	P626R	probably damaging	Het
Smu1	C	T	4: 40,755,722 (GRCm39)	V48M	probably benign	Het
Spag17	T	C	3: 99,934,667 (GRCm39)	Y650H	possibly damaging	Het
Spata1	C	T	3: 146,181,053 (GRCm39)	V302I	possibly damaging	Het
Sptb	G	A	12: 76,650,377 (GRCm39)	A1780V	probably damaging	Het
Srrm2	G	A	17: 24,038,591 (GRCm39)		probably benign	Het
Sspo	A	C	6: 48,474,377 (GRCm39)	N4933H	probably damaging	Het
Sult2a2	T	C	7: 13,468,798 (GRCm39)	I88T	probably benign	Het
Tgfa	G	T	6: 86,247,072 (GRCm39)		probably benign	Het
Thsd1	T	A	8: 22,733,708 (GRCm39)	C252S	possibly damaging	Het
Tmem102	T	A	11: 69,695,630 (GRCm39)	H114L	probably damaging	Het
Tnni3k	T	A	3: 154,498,414 (GRCm39)	K808N	possibly damaging	Het
Trpm7	G	T	2: 126,639,713 (GRCm39)	L1628M	probably benign	Het
Ttn	A	G	2: 76,561,081 (GRCm39)	Y29107H	probably damaging	Het
Upb1	T	C	10: 75,273,999 (GRCm39)	L342P	probably damaging	Het
Vmn2r120	T	C	17: 57,832,829 (GRCm39)	T117A	probably benign	Het
Vmn2r16	A	G	5: 109,487,652 (GRCm39)	D175G	probably damaging	Het
Vps35l	A	T	7: 118,374,552 (GRCm39)	I351F	probably damaging	Het
Zfhx4	T	G	3: 5,464,930 (GRCm39)	M1696R	possibly damaging	Het
Zfp746	A	G	6: 48,041,856 (GRCm39)	V289A	possibly damaging	Het
Zfyve26	A	C	12: 79,318,901 (GRCm39)	F1146V	probably damaging	Het

Other mutations in Ppid

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01320:Ppid	APN	3	79,502,584 (GRCm39)	missense	probably damaging	1.00
IGL01718:Ppid	APN	3	79,500,986 (GRCm39)	missense	probably damaging	1.00
IGL02347:Ppid	APN	3	79,502,526 (GRCm39)	missense	probably benign	0.00
R1965:Ppid	UTSW	3	79,509,606 (GRCm39)	nonsense	probably null
R1966:Ppid	UTSW	3	79,509,606 (GRCm39)	nonsense	probably null
R1980:Ppid	UTSW	3	79,500,925 (GRCm39)	missense	probably damaging	0.96
R4706:Ppid	UTSW	3	79,506,359 (GRCm39)	missense	probably benign
R4820:Ppid	UTSW	3	79,502,504 (GRCm39)	splice site	probably null
R5969:Ppid	UTSW	3	79,505,024 (GRCm39)	missense	probably damaging	1.00
R6243:Ppid	UTSW	3	79,510,373 (GRCm39)	missense	probably benign	0.01
R7246:Ppid	UTSW	3	79,498,740 (GRCm39)	unclassified	probably benign
R7341:Ppid	UTSW	3	79,507,604 (GRCm39)	missense	probably benign
R7576:Ppid	UTSW	3	79,507,698 (GRCm39)	missense	probably damaging	1.00
R8696:Ppid	UTSW	3	79,498,689 (GRCm39)	unclassified	probably benign
R9328:Ppid	UTSW	3	79,505,059 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAAGTCTGCCAACCAGTACTACAC -3'
(R):5'- GCCATCTCCCAGTTCTGAGACTTG -3'

Sequencing Primer
(F):5'- TCATAGCAGATGGCTGCATCC -3'
(R):5'- CTCCCAGTTCTGAGACTTGAAAAAAG -3'

Posted On

2014-01-05