Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02543:Ptcd1'

298310

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptcd1

Ensembl Gene

ENSMUSG00000029624

Gene Name

pentatricopeptide repeat domain 1

Synonyms

1110069M14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

IGL02543

Quality Score

Status

Chromosome

Chromosomal Location

145084324-145103918 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 145091497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 534 (L534P)

Ref Sequence

ENSEMBL: ENSMUSP00000031628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031628]

AlphaFold

Q8C2E4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031628
AA Change: L534P

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031628
Gene: ENSMUSG00000029624
AA Change: L534P

Domain	Start	End	E-Value	Type
low complexity region	48	58	N/A	INTRINSIC
low complexity region	64	74	N/A	INTRINSIC
low complexity region	110	123	N/A	INTRINSIC
Pfam:PPR_2	169	218	1.2e-16	PFAM
Pfam:PPR	172	202	1.1e-9	PFAM
Pfam:PPR_3	173	204	2.5e-5	PFAM
Pfam:PPR_3	245	278	3.2e-5	PFAM
Pfam:PPR	246	276	6.5e-4	PFAM
internal_repeat_1	437	595	1.57e-9	PROSPERO

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus represents naturally occurring read-through transcription between the ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and PTCD1 (pentatricopeptide repeat domain 1) genes on chromosome 7. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010]
PHENOTYPE: Knockout affects mitochondrial protein synthesis and RNA metabolism. Homozygous KO is embryonic lethal. Heterozygous KO causes adult onset obesity, liver fibrosis and cardiac hypertrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	G	T	19: 31,895,495 (GRCm39)	A193S	probably damaging	Het
Adcy4	T	C	14: 56,006,627 (GRCm39)	T1069A	probably benign	Het
Arg2	A	T	12: 79,197,533 (GRCm39)	I184F	probably benign	Het
Asb18	G	A	1: 89,942,113 (GRCm39)	P63S	probably damaging	Het
Cep85	T	C	4: 133,883,634 (GRCm39)	H85R	possibly damaging	Het
Chfr	A	G	5: 110,291,413 (GRCm39)		probably null	Het
Cog2	A	G	8: 125,256,698 (GRCm39)	N148S	probably benign	Het
Csgalnact1	T	C	8: 68,913,720 (GRCm39)	T162A	probably damaging	Het
Ddi1	C	T	9: 6,266,183 (GRCm39)	G62D	possibly damaging	Het
Dhx33	T	C	11: 70,878,066 (GRCm39)	Y435C	probably damaging	Het
Dsc3	A	T	18: 20,098,885 (GRCm39)	C765S	probably benign	Het
Egfem1	T	A	3: 29,722,529 (GRCm39)	D362E	probably benign	Het
Gm28040	A	T	1: 133,247,069 (GRCm39)	I26F	possibly damaging	Het
Gm28778	T	C	1: 53,338,202 (GRCm39)	M22T	probably benign	Het
Hdac1-ps	A	G	17: 78,799,303 (GRCm39)	E98G	probably damaging	Het
Hipk2	A	G	6: 38,680,436 (GRCm39)	I968T	possibly damaging	Het
Hlx	T	G	1: 184,462,948 (GRCm39)	S235R	probably damaging	Het
Jag1	T	C	2: 136,933,867 (GRCm39)		probably benign	Het
Kdr	A	G	5: 76,125,607 (GRCm39)		probably benign	Het
Klhl3	T	C	13: 58,166,685 (GRCm39)	E435G	probably damaging	Het
L3mbtl4	T	C	17: 68,768,607 (GRCm39)		probably benign	Het
Large1	T	A	8: 73,775,042 (GRCm39)	M223L	probably benign	Het
Lrp1b	T	C	2: 40,760,413 (GRCm39)	K2838E	possibly damaging	Het
Ncan	T	C	8: 70,561,221 (GRCm39)	D582G	probably benign	Het
Nedd9	T	C	13: 41,470,211 (GRCm39)	D314G	probably damaging	Het
Nip7	T	C	8: 107,784,825 (GRCm39)		probably benign	Het
Or10j27	T	G	1: 172,957,901 (GRCm39)	K294N	probably damaging	Het
Or52ae9	A	T	7: 103,389,710 (GRCm39)	C246S	possibly damaging	Het
Or7a42	C	A	10: 78,791,773 (GRCm39)	H245N	probably damaging	Het
P3h1	T	C	4: 119,095,053 (GRCm39)		probably benign	Het
Pcp4l1	C	T	1: 171,003,133 (GRCm39)		probably benign	Het
Plekhm2	C	T	4: 141,369,330 (GRCm39)	G118D	probably benign	Het
Prkg1	T	C	19: 30,602,134 (GRCm39)	D374G	possibly damaging	Het
Rnf123	A	G	9: 107,943,547 (GRCm39)	S563P	probably damaging	Het
Scart1	A	G	7: 139,800,491 (GRCm39)	M91V	probably benign	Het
Sdk2	A	T	11: 113,759,747 (GRCm39)	I418N	possibly damaging	Het
Slc26a4	A	G	12: 31,578,688 (GRCm39)	I655T	possibly damaging	Het
Syne1	T	C	10: 4,993,618 (GRCm39)	K524R	probably damaging	Het
Tanc1	G	T	2: 59,663,602 (GRCm39)	G1120C	probably damaging	Het
Tbc1d22a	C	T	15: 86,123,372 (GRCm39)	A135V	probably benign	Het
Tenm3	A	C	8: 48,751,991 (GRCm39)	W942G	probably damaging	Het
Thsd7b	G	A	1: 130,092,840 (GRCm39)	V1247I	probably benign	Het
Treml1	A	G	17: 48,667,459 (GRCm39)	T115A	possibly damaging	Het
Ttn	T	C	2: 76,540,306 (GRCm39)	T34227A	probably benign	Het
Ugt2b38	T	A	5: 87,571,342 (GRCm39)	D230V	probably benign	Het
Vmn1r203	G	A	13: 22,709,074 (GRCm39)	G285D	probably damaging	Het
Vmn2r76	A	G	7: 85,879,356 (GRCm39)	S315P	probably benign	Het
Vmn2r98	T	G	17: 19,286,083 (GRCm39)	S194A	probably benign	Het
Wdr1	G	A	5: 38,703,165 (GRCm39)	S137F	probably damaging	Het
Wnt7b	C	T	15: 85,443,097 (GRCm39)		probably benign	Het
Zfp668	A	T	7: 127,467,494 (GRCm39)	C27*	probably null	Het

Other mutations in Ptcd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00858:Ptcd1	APN	5	145,088,092 (GRCm39)	unclassified	probably benign
IGL00984:Ptcd1	APN	5	145,102,239 (GRCm39)	missense	probably benign
IGL01120:Ptcd1	APN	5	145,089,053 (GRCm39)	unclassified	probably benign
IGL01545:Ptcd1	APN	5	145,096,346 (GRCm39)	missense	probably damaging	1.00
IGL01861:Ptcd1	APN	5	145,095,587 (GRCm39)	missense	possibly damaging	0.81
IGL02835:Ptcd1	UTSW	5	145,091,500 (GRCm39)	missense	possibly damaging	0.78
PIT4366001:Ptcd1	UTSW	5	145,088,145 (GRCm39)	missense	probably benign	0.01
PIT4494001:Ptcd1	UTSW	5	145,092,168 (GRCm39)	missense	probably benign	0.01
R3001:Ptcd1	UTSW	5	145,096,386 (GRCm39)	missense	probably damaging	0.98
R3002:Ptcd1	UTSW	5	145,096,386 (GRCm39)	missense	probably damaging	0.98
R4460:Ptcd1	UTSW	5	145,096,316 (GRCm39)	missense	probably benign	0.25
R4587:Ptcd1	UTSW	5	145,091,531 (GRCm39)	missense	possibly damaging	0.47
R4652:Ptcd1	UTSW	5	145,091,985 (GRCm39)	missense	probably benign	0.01
R5059:Ptcd1	UTSW	5	145,089,034 (GRCm39)	missense	probably benign	0.07
R5364:Ptcd1	UTSW	5	145,088,241 (GRCm39)	missense	probably damaging	0.99
R5367:Ptcd1	UTSW	5	145,084,715 (GRCm39)	utr 3 prime	probably benign
R5733:Ptcd1	UTSW	5	145,091,671 (GRCm39)	missense	probably damaging	1.00
R5800:Ptcd1	UTSW	5	145,096,475 (GRCm39)	missense	probably damaging	0.99
R6281:Ptcd1	UTSW	5	145,101,881 (GRCm39)	missense	probably benign	0.10
R6931:Ptcd1	UTSW	5	145,091,885 (GRCm39)	missense	probably benign	0.00
R7472:Ptcd1	UTSW	5	145,091,540 (GRCm39)	missense	possibly damaging	0.94
R7723:Ptcd1	UTSW	5	145,091,639 (GRCm39)	missense	probably damaging	1.00
R7731:Ptcd1	UTSW	5	145,088,174 (GRCm39)	missense	probably benign	0.07
R8048:Ptcd1	UTSW	5	145,091,887 (GRCm39)	missense	probably benign
R8090:Ptcd1	UTSW	5	145,096,345 (GRCm39)	missense	possibly damaging	0.91
R8774:Ptcd1	UTSW	5	145,092,175 (GRCm39)	missense	probably damaging	1.00
R8774-TAIL:Ptcd1	UTSW	5	145,092,175 (GRCm39)	missense	probably damaging	1.00
R8952:Ptcd1	UTSW	5	145,091,944 (GRCm39)	missense	probably damaging	1.00
R8990:Ptcd1	UTSW	5	145,102,047 (GRCm39)	missense	probably damaging	1.00
R9072:Ptcd1	UTSW	5	145,091,525 (GRCm39)	missense	probably benign	0.36
R9073:Ptcd1	UTSW	5	145,091,525 (GRCm39)	missense	probably benign	0.36
R9602:Ptcd1	UTSW	5	145,096,448 (GRCm39)	missense	probably benign	0.00
R9740:Ptcd1	UTSW	5	145,096,294 (GRCm39)	missense	probably benign
Z1177:Ptcd1	UTSW	5	145,102,245 (GRCm39)	missense	probably benign	0.04

Posted On

2015-04-16