Mutagenetix > Incidental Mutations

Incidental Mutation 'R6324:Ptcd3'

510652

Institutional Source

Beutler Lab

Gene Symbol

Ptcd3

Ensembl Gene

ENSMUSG00000063884

Gene Name

pentatricopeptide repeat domain 3

Synonyms

2610034F17Rik, 2810422B04Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6324 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71880638-71908750 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71885327 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 509 (V509I)

Ref Sequence

ENSEMBL: ENSMUSP00000080743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082094] [ENSMUST00000206879]

Predicted Effect

probably benign
Transcript: ENSMUST00000082094
AA Change: V509I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000080743
Gene: ENSMUSG00000063884
AA Change: V509I

Domain	Start	End	E-Value	Type
low complexity region	2	8	N/A	INTRINSIC
low complexity region	216	227	N/A	INTRINSIC
Pfam:PPR_2	253	300	1.4e-10	PFAM
Pfam:PPR_3	331	366	2.1e-4	PFAM
low complexity region	671	684	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205269

Predicted Effect

probably benign
Transcript: ENSMUST00000205556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205691

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205761

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206762

Predicted Effect

probably benign
Transcript: ENSMUST00000206879

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025F22Rik	T	A	19: 11,163,447	M3L	probably benign	Het
Arhgef4	G	A	1: 34,723,477	A605T	unknown	Het
Atp13a3	A	G	16: 30,332,285	V1069A	possibly damaging	Het
Atp1a2	C	G	1: 172,289,336	R238P	probably damaging	Het
Baz2b	A	G	2: 59,906,948	S1877P	probably damaging	Het
Ccdc114	A	G	7: 45,941,710	E203G	probably damaging	Het
Ccdc27	A	T	4: 154,036,191	S383T	probably benign	Het
Cr1l	A	G	1: 195,111,122	V377A	probably benign	Het
Dazap1	A	G	10: 80,277,660	E130G	probably benign	Het
Dchs1	G	T	7: 105,764,938	A890E	probably benign	Het
Dock10	G	A	1: 80,505,176	T2143I	probably benign	Het
Eif3j1	A	G	2: 122,041,178	D60G	probably benign	Het
Enah	A	G	1: 181,918,571	S382P	probably damaging	Het
Fam171b	A	T	2: 83,879,264	K427*	probably null	Het
Fmn2	A	T	1: 174,612,553	I1179L	possibly damaging	Het
Focad	C	T	4: 88,401,068	R1505*	probably null	Het
Frem1	T	C	4: 82,983,337	T985A	probably benign	Het
Gm3404	A	T	5: 146,528,107	Q219L	possibly damaging	Het
Gm5592	A	C	7: 41,286,535	S154R	probably damaging	Het
Gpn3	C	T	5: 122,372,575		probably benign	Het
Gpr158	A	G	2: 21,810,554	E586G	probably damaging	Het
Gstp2	A	T	19: 4,040,499	I162N	probably benign	Het
Lin7a	T	A	10: 107,380,215		probably null	Het
Loxl4	G	A	19: 42,595,378	L745F	probably benign	Het
Mybpc1	A	G	10: 88,568,619	I172T	possibly damaging	Het
Nalcn	A	G	14: 123,409,749	W571R	possibly damaging	Het
Nkx2-5	G	C	17: 26,841,121	P79A	probably benign	Het
Nufip2	A	G	11: 77,691,661	T134A	probably benign	Het
Olfr1042	C	T	2: 86,159,456	V305I	probably benign	Het
Olfr1342	G	A	4: 118,690,531		probably benign	Het
Olfr1463	A	G	19: 13,235,104	M285V	possibly damaging	Het
Phkb	A	G	8: 86,018,542	D616G	probably benign	Het
Plch1	C	T	3: 63,781,390	W131*	probably null	Het
Prl7b1	A	T	13: 27,602,895		probably null	Het
Prop1	G	A	11: 50,952,199	P54S	probably benign	Het
Ptprg	T	A	14: 12,226,314	D527E	probably damaging	Het
Rapgef2	C	T	3: 79,079,132	V1182I	probably benign	Het
Rfx7	C	A	9: 72,618,414	P962Q	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Homo
Slc38a9	A	G	13: 112,726,100	I444M	probably benign	Het
Sorbs1	T	C	19: 40,321,819	T492A	probably damaging	Het
Synj1	A	T	16: 90,938,630	S1478R	probably benign	Het
Tnn	T	A	1: 160,145,204	N276I	probably damaging	Het
Trbv19	G	A	6: 41,178,758	G21D	probably damaging	Het
Ube2o	A	T	11: 116,539,359	D1184E	probably benign	Het
Vmn1r181	G	A	7: 23,984,758	R216Q	probably benign	Het
Vmn2r108	A	T	17: 20,471,715	L182*	probably null	Het
Vmn2r15	A	G	5: 109,286,271	*856R	probably null	Het
Vmn2r70	G	A	7: 85,558,879	H797Y	probably benign	Het
Zfp11	C	T	5: 129,656,523	A625T	possibly damaging	Het

Other mutations in Ptcd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00767:Ptcd3	APN	6	71903448	missense	probably damaging	0.96
IGL00903:Ptcd3	APN	6	71907844	missense	possibly damaging	0.93
IGL01545:Ptcd3	APN	6	71888577	missense	probably benign	0.01
IGL01924:Ptcd3	APN	6	71898427	missense	probably damaging	1.00
IGL02675:Ptcd3	APN	6	71883442	critical splice donor site	probably null
R0732:Ptcd3	UTSW	6	71881171	unclassified	probably benign
R1374:Ptcd3	UTSW	6	71908653	nonsense	probably null
R1393:Ptcd3	UTSW	6	71889621	missense	probably benign	0.00
R1498:Ptcd3	UTSW	6	71893495	missense	probably damaging	1.00
R1646:Ptcd3	UTSW	6	71898395	missense	probably benign	0.26
R1712:Ptcd3	UTSW	6	71908653	nonsense	probably null
R2022:Ptcd3	UTSW	6	71885553	missense	probably damaging	1.00
R2248:Ptcd3	UTSW	6	71894285	critical splice donor site	probably null
R2406:Ptcd3	UTSW	6	71888647	missense	probably damaging	1.00
R3418:Ptcd3	UTSW	6	71883486	missense	possibly damaging	0.93
R3419:Ptcd3	UTSW	6	71883486	missense	possibly damaging	0.93
R4677:Ptcd3	UTSW	6	71893514	missense	probably benign	0.17
R4741:Ptcd3	UTSW	6	71902949	missense	probably damaging	1.00
R4752:Ptcd3	UTSW	6	71901312	missense	probably damaging	0.99
R5441:Ptcd3	UTSW	6	71881521	missense	possibly damaging	0.62
R5583:Ptcd3	UTSW	6	71902936	missense	probably damaging	1.00
R5681:Ptcd3	UTSW	6	71907659	missense	probably damaging	1.00
R6028:Ptcd3	UTSW	6	71898408	missense	probably damaging	1.00
R6537:Ptcd3	UTSW	6	71897110	splice site	probably null
R6600:Ptcd3	UTSW	6	71883546	missense	probably damaging	1.00
R6783:Ptcd3	UTSW	6	71908643	missense	probably benign	0.00
R6810:Ptcd3	UTSW	6	71885532	missense	probably damaging	0.99
R6860:Ptcd3	UTSW	6	71897110	splice site	probably null
R6993:Ptcd3	UTSW	6	71885315	missense	probably damaging	1.00
R7578:Ptcd3	UTSW	6	71908707	missense	probably benign
R7788:Ptcd3	UTSW	6	71885557	missense	probably benign	0.00
R7851:Ptcd3	UTSW	6	71902859	missense	probably damaging	1.00
R7888:Ptcd3	UTSW	6	71883447	missense	probably damaging	1.00
R7889:Ptcd3	UTSW	6	71888608	missense	probably damaging	1.00
R7919:Ptcd3	UTSW	6	71903454	missense	probably damaging	1.00
R8162:Ptcd3	UTSW	6	71907814	missense	probably benign	0.02
R8351:Ptcd3	UTSW	6	71908641	missense	probably benign	0.00
R8451:Ptcd3	UTSW	6	71908641	missense	probably benign	0.00
X0024:Ptcd3	UTSW	6	71901274	missense	probably damaging	1.00
X0065:Ptcd3	UTSW	6	71907806	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AACCTCTGTTAAGAATGGAGGC -3'
(R):5'- TGAAGTGGTATAAGGACCTAATACC -3'

Sequencing Primer
(F):5'- TGAAGGTCCTGAGTTGAAATCCC -3'
(R):5'- GTGGTATAAGGACCTAATACCTTCAG -3'

Posted On

2018-04-02