Mutagenetix > Incidental Mutation

Incidental Mutation 'R8547:Ptcd2'

659709

Institutional Source

Beutler Lab

Gene Symbol

Ptcd2

Ensembl Gene

ENSMUSG00000021650

Gene Name

pentatricopeptide repeat domain 2

Synonyms

1190005P08Rik

MMRRC Submission

068512-MU

Accession Numbers

Essential gene?

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

Stock #

R8547 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99456157-99481215 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 99469462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 154 (F154V)

Ref Sequence

ENSEMBL: ENSMUSP00000022153 (fasta)

Gene Model

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

AlphaFold

Q8R3K3

Predicted Effect

probably damaging
Transcript: ENSMUST00000022153
AA Change: F154V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022153
Gene: ENSMUSG00000021650
AA Change: F154V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,616,474 (GRCm39)	V972A	probably benign	Het
Adamts14	T	G	10: 61,106,998 (GRCm39)	T41P	probably damaging	Het
Adamtsl3	C	T	7: 82,077,621 (GRCm39)	T102I	probably damaging	Het
Ago3	T	C	4: 126,264,109 (GRCm39)	I366V	probably null	Het
Aldh1a7	A	G	19: 20,692,067 (GRCm39)	V242A	possibly damaging	Het
Asxl3	T	C	18: 22,655,829 (GRCm39)	S1280P	probably benign	Het
Caprin1	G	T	2: 103,599,862 (GRCm39)	N604K	probably damaging	Het
Catsperb	T	C	12: 101,412,305 (GRCm39)	W131R	probably damaging	Het
Ccdc18	A	G	5: 108,345,725 (GRCm39)	E957G	probably damaging	Het
Ccn6	T	A	10: 39,027,194 (GRCm39)	D346V	probably damaging	Het
Cd28	G	A	1: 60,785,681 (GRCm39)	V17I	probably benign	Het
Cfl2	A	T	12: 54,908,398 (GRCm39)	L75*	probably null	Het
Clspn	T	A	4: 126,455,609 (GRCm39)	L45H	probably damaging	Het
Col4a2	A	G	8: 11,479,305 (GRCm39)		probably null	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Dgka	A	T	10: 128,556,881 (GRCm39)	I663N	probably damaging	Het
Eppk1	C	T	15: 75,993,249 (GRCm39)	V1211I	probably benign	Het
Fam193b	A	G	13: 55,698,117 (GRCm39)	S280P	probably damaging	Het
Fgd2	C	T	17: 29,583,934 (GRCm39)	A116V	probably damaging	Het
Fmo5	C	A	3: 97,558,811 (GRCm39)	Q424K	probably benign	Het
Fn3k	T	C	11: 121,340,987 (GRCm39)	L214P	probably damaging	Het
Gm3404	A	T	5: 146,465,108 (GRCm39)	R283W	possibly damaging	Het
Gtdc1	A	G	2: 44,678,993 (GRCm39)		probably benign	Het
Hepacam	T	C	9: 37,279,049 (GRCm39)	I26T	probably benign	Het
Hltf	T	C	3: 20,152,291 (GRCm39)	F596L	probably damaging	Het
Ipo7	T	G	7: 109,652,000 (GRCm39)	D926E	probably benign	Het
Krt16	G	A	11: 100,137,083 (GRCm39)	Q463*	probably null	Het
Lats1	T	C	10: 7,588,613 (GRCm39)	F1077L	probably damaging	Het
Lrrc69	T	C	4: 14,704,014 (GRCm39)	I269V	probably benign	Het
Mcm6	C	T	1: 128,273,685 (GRCm39)	E382K	possibly damaging	Het
Npbwr1	A	T	1: 5,987,446 (GRCm39)	C23S	possibly damaging	Het
Nsd3	T	C	8: 26,184,811 (GRCm39)	C962R	probably damaging	Het
Nufip2	T	C	11: 77,583,391 (GRCm39)	L435P	probably damaging	Het
Or10d4c	C	T	9: 39,558,798 (GRCm39)	Q259*	probably null	Het
Or1e23	T	C	11: 73,407,440 (GRCm39)	N195S	probably damaging	Het
Potegl	A	T	2: 23,120,135 (GRCm39)	Y177F	probably damaging	Het
Psen1	T	C	12: 83,761,630 (GRCm39)	V144A	possibly damaging	Het
Psmg2	T	A	18: 67,779,077 (GRCm39)	S82T	possibly damaging	Het
Ptchd4	A	C	17: 42,813,512 (GRCm39)	D471A	probably benign	Het
Robo4	C	T	9: 37,315,674 (GRCm39)	T309I	possibly damaging	Het
Runx3	T	C	4: 134,898,455 (GRCm39)	F209L	probably damaging	Het
Setd1a	T	C	7: 127,395,676 (GRCm39)		probably benign	Het
Slc35g3	T	C	11: 69,652,446 (GRCm39)	E22G	probably benign	Het
Spag9	T	A	11: 94,013,647 (GRCm39)	M1303K	possibly damaging	Het
Ssh2	T	A	11: 77,340,533 (GRCm39)	S562T	probably benign	Het
Tiparp	T	C	3: 65,453,798 (GRCm39)		probably null	Het
Topbp1	C	T	9: 103,213,264 (GRCm39)	P1028L	probably benign	Het
Unc45a	A	T	7: 79,975,840 (GRCm39)	L833Q	possibly damaging	Het
Vmn2r85	T	C	10: 130,261,311 (GRCm39)	Y342C	probably damaging	Het
Vmn2r95	G	A	17: 18,664,161 (GRCm39)	C460Y	probably damaging	Het
Vps13c	T	A	9: 67,852,848 (GRCm39)	I2376N	probably damaging	Het
Zbtb21	C	A	16: 97,753,315 (GRCm39)	A351S	possibly damaging	Het
Zzef1	T	G	11: 72,735,267 (GRCm39)	Y623D	probably 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
R7594:Ptcd2	UTSW	13	99,456,790 (GRCm39)	missense	possibly damaging	0.81
R7616:Ptcd2	UTSW	13	99,481,207 (GRCm39)	unclassified	probably benign
R8928:Ptcd2	UTSW	13	99,476,505 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TTCAAACTTCAGGAGTGAGGTCAC -3'
(R):5'- GTAAGATACAGGCCCTGCATAG -3'

Sequencing Primer
(F):5'- ACACTGGGGCTCCTCAACAG -3'
(R):5'- CATAGTAAGTGGCCCATGCGTTTAC -3'

Posted On

2021-01-18