Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01819:Ptcd2'

154469

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptcd2

Ensembl Gene

ENSMUSG00000021650

Gene Name

pentatricopeptide repeat domain 2

Synonyms

1190005P08Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.267) question?

Stock #

IGL01819

Quality Score

Status

Chromosome

Chromosomal Location

99456157-99481215 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99463219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 245 (N245S)

Ref Sequence

ENSEMBL: ENSMUSP00000022153 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022153]

AlphaFold

Q8R3K3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022153
AA Change: N245S

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022153
Gene: ENSMUSG00000021650
AA Change: N245S

Domain	Start	End	E-Value	Type
Pfam:MRP-S27	20	228	1.2e-15	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trapped allele exhibit abnormal mitochondrial morphology and physiology, especially in the heart, liver, skeletal muscle and kidney. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora2b	A	G	11: 62,156,010 (GRCm39)	N153S	possibly damaging	Het
Afm	C	T	5: 90,672,765 (GRCm39)	T200I	probably benign	Het
Cyp2c67	T	C	19: 39,604,165 (GRCm39)	D397G	probably damaging	Het
Dnah9	A	G	11: 65,998,952 (GRCm39)	V1032A	probably benign	Het
Elovl7	T	G	13: 108,410,854 (GRCm39)	V143G	probably damaging	Het
Fhl4	T	C	10: 84,934,734 (GRCm39)	K16E	probably damaging	Het
Golga1	C	T	2: 38,924,161 (GRCm39)	C383Y	probably benign	Het
Gucy1a2	C	T	9: 3,865,409 (GRCm39)	R628*	probably null	Het
Hectd4	A	G	5: 121,466,481 (GRCm39)	D2432G	possibly damaging	Het
Iqcf5	T	A	9: 106,393,189 (GRCm39)	*149R	probably null	Het
Kcnab1	T	A	3: 65,226,875 (GRCm39)	Y185N	probably damaging	Het
Lars1	G	T	18: 42,335,615 (GRCm39)	T1167K	probably benign	Het
Mib2	A	T	4: 155,739,715 (GRCm39)		probably null	Het
Mrps2	T	C	2: 28,358,348 (GRCm39)	V46A	probably benign	Het
Myo18b	T	C	5: 113,025,916 (GRCm39)	T45A	unknown	Het
Myo1e	C	T	9: 70,250,322 (GRCm39)		probably benign	Het
Or10ag59	A	G	2: 87,405,823 (GRCm39)	I132V	probably damaging	Het
Or4k39	T	A	2: 111,239,078 (GRCm39)	V106E	probably damaging	Het
Osbp2	A	T	11: 3,667,127 (GRCm39)	I8N	probably damaging	Het
Pcdhb22	A	T	18: 37,652,974 (GRCm39)	N481Y	probably damaging	Het
Pde3a	T	C	6: 141,433,263 (GRCm39)	W765R	probably damaging	Het
Phf11c	T	C	14: 59,630,586 (GRCm39)	T40A	probably benign	Het
Pih1d2	T	A	9: 50,533,177 (GRCm39)	S268R	probably benign	Het
Pkd1l2	T	C	8: 117,724,913 (GRCm39)	N2333D	probably damaging	Het
Prex1	A	G	2: 166,463,165 (GRCm39)	I62T	probably damaging	Het
Ripor3	C	A	2: 167,822,763 (GRCm39)	V933F	probably damaging	Het
Sanbr	A	G	11: 23,534,561 (GRCm39)	S105P	probably benign	Het
Sphk2	A	G	7: 45,360,480 (GRCm39)		probably null	Het
Tfcp2	T	G	15: 100,402,320 (GRCm39)	E492D	probably benign	Het
Ttn	C	T	2: 76,629,106 (GRCm39)	V14411I	possibly damaging	Het
Utp20	T	C	10: 88,628,549 (GRCm39)	Q915R	probably damaging	Het
Vmn2r45	C	A	7: 8,488,556 (GRCm39)	S158I	probably benign	Het

Other mutations in Ptcd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Ptcd2	APN	13	99,466,573 (GRCm39)	missense	probably benign	0.11
IGL01537:Ptcd2	APN	13	99,466,521 (GRCm39)	missense	possibly damaging	0.95
IGL03368:Ptcd2	APN	13	99,466,577 (GRCm39)	splice site	probably benign
PIT4431001:Ptcd2	UTSW	13	99,476,527 (GRCm39)	nonsense	probably null
R0276:Ptcd2	UTSW	13	99,458,104 (GRCm39)	missense	probably benign	0.16
R0411:Ptcd2	UTSW	13	99,479,899 (GRCm39)	missense	probably damaging	1.00
R1381:Ptcd2	UTSW	13	99,481,105 (GRCm39)	missense	probably benign	0.01
R2007:Ptcd2	UTSW	13	99,456,744 (GRCm39)	missense	probably damaging	0.99
R4059:Ptcd2	UTSW	13	99,481,084 (GRCm39)	missense	probably damaging	0.99
R4094:Ptcd2	UTSW	13	99,468,957 (GRCm39)	missense	probably damaging	0.99
R7594:Ptcd2	UTSW	13	99,456,790 (GRCm39)	missense	possibly damaging	0.81
R7616:Ptcd2	UTSW	13	99,481,207 (GRCm39)	unclassified	probably benign
R8547:Ptcd2	UTSW	13	99,469,462 (GRCm39)	missense	probably damaging	1.00
R8928:Ptcd2	UTSW	13	99,476,505 (GRCm39)	missense	probably damaging	0.97

Posted On

2014-02-04