Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01537:Ptcd2'

89985

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 #

IGL01537

Quality Score

Status

Chromosome

Chromosomal Location

99456157-99481215 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99466521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 224 (I224N)

Ref Sequence

ENSEMBL: ENSMUSP00000022153 (fasta)

Gene Model

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

AlphaFold

Q8R3K3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022153
AA Change: I224N

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022153
Gene: ENSMUSG00000021650
AA Change: I224N

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn1l	T	C	8: 110,459,312 (GRCm39)	R317G	probably benign	Het
B130006D01Rik	T	A	11: 95,616,992 (GRCm39)		probably benign	Het
Brinp2	T	C	1: 158,074,379 (GRCm39)	T581A	probably damaging	Het
Cacna1b	A	T	2: 24,548,540 (GRCm39)	I1179N	probably damaging	Het
Cacnb3	A	G	15: 98,541,301 (GRCm39)	D434G	probably damaging	Het
Cdh19	T	C	1: 110,847,341 (GRCm39)	T423A	possibly damaging	Het
Chkb	C	T	15: 89,311,986 (GRCm39)		probably benign	Het
Cit	T	C	5: 116,071,913 (GRCm39)	Y623H	probably benign	Het
Clstn3	G	A	6: 124,408,559 (GRCm39)	R918C	possibly damaging	Het
Dnah2	T	A	11: 69,406,906 (GRCm39)	M200L	probably benign	Het
Dnah9	T	A	11: 65,838,506 (GRCm39)	H3097L	probably benign	Het
Dst	T	A	1: 34,314,401 (GRCm39)	L4217H	probably damaging	Het
Fam107b	T	A	2: 3,779,565 (GRCm39)	L80Q	probably damaging	Het
Fgfr1	T	A	8: 26,045,595 (GRCm39)	C55S	probably damaging	Het
Igkv4-71	C	A	6: 69,220,264 (GRCm39)	G78*	probably null	Het
Igsf10	A	G	3: 59,237,452 (GRCm39)	S910P	probably benign	Het
Ikzf3	T	C	11: 98,407,718 (GRCm39)	D41G	probably damaging	Het
Larp1	T	A	11: 57,933,648 (GRCm39)	I358N	possibly damaging	Het
Marchf5	C	T	19: 37,188,067 (GRCm39)		probably benign	Het
Mpdz	T	C	4: 81,287,895 (GRCm39)	T455A	probably damaging	Het
Myo1b	A	G	1: 51,815,510 (GRCm39)	V612A	possibly damaging	Het
Nipbl	T	C	15: 8,380,023 (GRCm39)	D923G	probably benign	Het
Nlrp4b	T	C	7: 10,448,918 (GRCm39)	F7L	probably damaging	Het
Npas4	T	C	19: 5,037,355 (GRCm39)	N313S	possibly damaging	Het
Nynrin	T	A	14: 56,109,502 (GRCm39)	N1536K	possibly damaging	Het
Or10d5	T	A	9: 39,861,921 (GRCm39)	T49S	probably benign	Het
Or13a22	A	G	7: 140,072,751 (GRCm39)	N67D	probably damaging	Het
Or4c107	T	C	2: 88,788,885 (GRCm39)	V25A	probably benign	Het
Pclo	T	C	5: 14,589,647 (GRCm39)	V649A	unknown	Het
Pom121	A	G	5: 135,421,389 (GRCm39)		probably benign	Het
Rsrp1	C	T	4: 134,651,290 (GRCm39)	P18L	unknown	Het
Sash1	A	T	10: 8,605,422 (GRCm39)	N989K	probably damaging	Het
Scn2a	T	A	2: 65,546,219 (GRCm39)	H927Q	probably benign	Het
Selenoi	G	T	5: 30,461,222 (GRCm39)	V128F	probably damaging	Het
Slc25a42	T	C	8: 70,642,092 (GRCm39)	I117V	probably benign	Het
Spata1	A	G	3: 146,195,558 (GRCm39)		probably benign	Het
Sptlc3	A	T	2: 139,431,615 (GRCm39)	Y379F	possibly damaging	Het
Tent4a	A	T	13: 69,648,678 (GRCm39)	S693T	probably benign	Het
Tinag	C	T	9: 76,952,885 (GRCm39)	R33K	probably benign	Het
Trappc8	T	C	18: 20,968,061 (GRCm39)	D1092G	probably benign	Het
Xntrpc	A	G	7: 101,722,401 (GRCm39)	E22G	probably damaging	Het
Zbtb7b	A	G	3: 89,287,278 (GRCm39)	M397T	possibly damaging	Het
Zgpat	A	G	2: 181,020,682 (GRCm39)	D285G	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
IGL01819:Ptcd2	APN	13	99,463,219 (GRCm39)	missense	possibly damaging	0.78
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

2013-12-03