Mutagenetix > Incidental Mutation

Incidental Mutation 'R7594:Ptcd2'

587642

Institutional Source

Beutler Lab

Gene Symbol

Ptcd2

Ensembl Gene

ENSMUSG00000021650

Gene Name

pentatricopeptide repeat domain 2

Synonyms

1190005P08Rik

MMRRC Submission

045670-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.303) question?

Stock #

R7594 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99456157-99481215 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 99456790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 345 (A345S)

Ref Sequence

ENSEMBL: ENSMUSP00000022153 (fasta)

Gene Model

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

AlphaFold

Q8R3K3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022153
AA Change: A345S

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022153
Gene: ENSMUSG00000021650
AA Change: A345S

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

Meta Mutation Damage Score

0.1325

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	T	C	7: 103,708,470 (GRCm39)	E113G	probably damaging	Het
Acsm3	A	G	7: 119,384,213 (GRCm39)		probably null	Het
Acvr2a	T	A	2: 48,784,749 (GRCm39)	L345*	probably null	Het
App	T	C	16: 84,876,890 (GRCm39)	D167G	unknown	Het
Arhgef33	A	G	17: 80,677,734 (GRCm39)	D427G	probably damaging	Het
Arid2	T	C	15: 96,288,875 (GRCm39)	S1675P	probably damaging	Het
Atp8a1	T	C	5: 67,808,935 (GRCm39)	Y985C		Het
AW209491	A	G	13: 14,811,831 (GRCm39)	D228G	probably benign	Het
Casc3	G	A	11: 98,712,311 (GRCm39)	A117T	probably benign	Het
Cass4	C	T	2: 172,271,568 (GRCm39)	P645S	probably benign	Het
Ccar2	A	T	14: 70,379,243 (GRCm39)	Y553*	probably null	Het
Cox16	A	T	12: 81,521,352 (GRCm39)		probably null	Het
Cpeb3	A	T	19: 37,151,551 (GRCm39)	V275E	possibly damaging	Het
Dido1	A	G	2: 180,316,905 (GRCm39)	V634A	probably benign	Het
Dnajb1	G	A	8: 84,336,473 (GRCm39)	S81N	probably benign	Het
Dst	A	G	1: 34,252,094 (GRCm39)	K2262E	probably damaging	Het
Eya3	T	C	4: 132,422,136 (GRCm39)	V237A	probably benign	Het
Fbxo31	T	A	8: 122,279,107 (GRCm39)	D460V	probably damaging	Het
Fcgbpl1	T	C	7: 27,830,885 (GRCm39)	C33R	probably damaging	Het
Gabrg3	A	T	7: 56,632,443 (GRCm39)	N168K	possibly damaging	Het
Ggh	C	G	4: 20,049,833 (GRCm39)	S88C	probably damaging	Het
Gm10134	T	C	2: 28,396,372 (GRCm39)	M89T	unknown	Het
Kif17	T	C	4: 138,005,236 (GRCm39)	L267P	probably damaging	Het
Ksr2	C	A	5: 117,693,131 (GRCm39)	T193N	possibly damaging	Het
Lmtk2	T	C	5: 144,110,564 (GRCm39)	L428P	probably damaging	Het
Mdn1	G	T	4: 32,696,359 (GRCm39)	L1247F	probably benign	Het
Med24	T	C	11: 98,605,923 (GRCm39)	Y323C	probably damaging	Het
Mthfd2	A	G	6: 83,283,665 (GRCm39)	V339A	probably benign	Het
Mtus2	G	T	5: 148,014,216 (GRCm39)	R336S	probably benign	Het
Muc16	T	C	9: 18,556,358 (GRCm39)	T3312A	unknown	Het
Nacad	A	G	11: 6,552,457 (GRCm39)	S245P	probably damaging	Het
Nacc1	T	C	8: 85,401,631 (GRCm39)	D394G	probably damaging	Het
Nfatc2	A	G	2: 168,365,268 (GRCm39)	V582A	probably damaging	Het
Nid2	T	A	14: 19,818,791 (GRCm39)	D428E	probably benign	Het
Or10ag57	A	G	2: 87,218,613 (GRCm39)	H188R	probably damaging	Het
Or4a80	T	A	2: 89,582,906 (GRCm39)	T89S	probably benign	Het
Or56a4	A	G	7: 104,806,880 (GRCm39)	L3S	probably benign	Het
Osbpl5	A	T	7: 143,247,534 (GRCm39)	L768Q	probably benign	Het
Plch2	C	T	4: 155,091,484 (GRCm39)	V210I	probably damaging	Het
Plekhh1	C	T	12: 79,123,277 (GRCm39)	T1153I	possibly damaging	Het
Ppp1r14c	T	C	10: 3,316,670 (GRCm39)	S2P	possibly damaging	Het
Pramel26	A	T	4: 143,539,286 (GRCm39)	I69N	probably damaging	Het
Psmd5	G	T	2: 34,750,741 (GRCm39)	H239Q	probably benign	Het
Sap30l	G	A	11: 57,700,947 (GRCm39)		probably null	Het
Sec14l2	A	G	11: 4,061,213 (GRCm39)	Y83H	probably damaging	Het
Slc2a9	A	G	5: 38,508,634 (GRCm39)	I470T	probably benign	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Syne1	A	G	10: 5,165,190 (GRCm39)		probably null	Het
Tg	T	A	15: 66,601,432 (GRCm39)	D1766E	probably benign	Het
Tlr12	T	C	4: 128,511,473 (GRCm39)	E259G	probably benign	Het
Tlr6	T	C	5: 65,110,594 (GRCm39)	Y771C	probably damaging	Het
Tnrc6b	T	A	15: 80,764,508 (GRCm39)	V670E	possibly damaging	Het
Top2b	A	G	14: 16,428,587 (GRCm38)	T1522A	probably benign	Het
Tpcn1	A	G	5: 120,694,595 (GRCm39)	M158T	possibly damaging	Het
Ttn	T	C	2: 76,557,186 (GRCm39)	I29940V	probably benign	Het
Ttn	G	A	2: 76,581,698 (GRCm39)	T23065I	probably damaging	Het
Umodl1	A	G	17: 31,173,779 (GRCm39)	S20G	probably benign	Het
Uts2r	G	T	11: 121,052,191 (GRCm39)	V352F	possibly damaging	Het
Vmn1r67	T	A	7: 10,181,342 (GRCm39)	M202K	possibly damaging	Het
Vmn2r107	T	C	17: 20,580,635 (GRCm39)	V524A	probably benign	Het
Zc3h12d	C	A	10: 7,738,382 (GRCm39)	D229E	probably damaging	Het
Zfp541	A	G	7: 15,810,311 (GRCm39)	D116G	probably damaging	Het
Zfp971	A	G	2: 177,675,793 (GRCm39)	E464G	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- CACTGAAGTAAGTAAGATGCCCG -3'
(R):5'- ATGTGCCCTGGTGTTTATCC -3'

Sequencing Primer
(F):5'- TAAGTAAGATGCCCGGCCCG -3'
(R):5'- ATGCTGTACATTTCTACATGTCTG -3'

Posted On

2019-10-24