Mutagenetix > Incidental Mutation

Incidental Mutation 'R8926:Ptcd3'

679534

Institutional Source

Beutler Lab

Gene Symbol

Ptcd3

Ensembl Gene

ENSMUSG00000063884

Gene Name

pentatricopeptide repeat domain 3

Synonyms

2610034F17Rik, 2810422B04Rik

MMRRC Submission

068770-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8926 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71857622-71885734 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71869464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 378 (F378S)

Ref Sequence

ENSEMBL: ENSMUSP00000080743 (fasta)

Gene Model

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

AlphaFold

Q14C51

Predicted Effect

probably damaging
Transcript: ENSMUST00000082094
AA Change: F378S

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

SMART Domains

Protein: ENSMUSP00000080743
Gene: ENSMUSG00000063884
AA Change: F378S

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

probably benign
Transcript: ENSMUST00000205556

Predicted Effect

probably benign
Transcript: ENSMUST00000206879

Meta Mutation Damage Score

0.9239

Coding Region Coverage

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

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	T	A	5: 30,405,446 (GRCm39)	D296V	possibly damaging	Het
Ahi1	T	C	10: 20,930,982 (GRCm39)	Y941H	probably damaging	Het
Bscl2	T	C	19: 8,825,348 (GRCm39)		probably null	Het
C1s1	C	T	6: 124,510,325 (GRCm39)	G374D	probably damaging	Het
C1s1	T	C	6: 124,513,322 (GRCm39)	D235G	possibly damaging	Het
Cacna1e	C	T	1: 154,577,080 (GRCm39)	V106I	possibly damaging	Het
Ccdc97	G	A	7: 25,412,494 (GRCm39)	A316V	probably benign	Het
Ces1a	A	G	8: 93,751,841 (GRCm39)	V431A	probably benign	Het
Cftr	C	T	6: 18,268,003 (GRCm39)	S684L	possibly damaging	Het
Cgnl1	T	A	9: 71,632,535 (GRCm39)	N272I	probably benign	Het
Csf2rb	C	T	15: 78,224,749 (GRCm39)	S169L	probably benign	Het
Cux1	T	A	5: 136,338,404 (GRCm39)		probably benign	Het
Cyp11b1	T	A	15: 74,711,087 (GRCm39)	Y197F	probably benign	Het
Cyp1a2	T	C	9: 57,588,361 (GRCm39)	K288E	probably benign	Het
Dapk1	T	A	13: 60,908,734 (GRCm39)	W1116R	probably damaging	Het
Dclre1c	A	T	2: 3,434,827 (GRCm39)	D97V	probably damaging	Het
Efcc1	A	G	6: 87,726,169 (GRCm39)	R323G	probably benign	Het
Epha6	T	A	16: 59,659,662 (GRCm39)	I819F	probably benign	Het
Fam118b	A	T	9: 35,146,732 (GRCm39)	L45Q	probably damaging	Het
Fcgbpl1	G	A	7: 27,853,869 (GRCm39)	C1611Y	probably damaging	Het
Fsd1l	T	G	4: 53,686,493 (GRCm39)	I302S	probably benign	Het
Fsip2	T	A	2: 82,823,927 (GRCm39)	D6553E	possibly damaging	Het
Gje1	C	T	10: 14,592,435 (GRCm39)	V116I	probably benign	Het
H2-T9	T	A	17: 36,420,626 (GRCm39)		probably null	Het
Helz	C	A	11: 107,563,509 (GRCm39)	H1650N	unknown	Het
Hltf	T	G	3: 20,123,323 (GRCm39)		probably null	Het
Intu	T	A	3: 40,608,139 (GRCm39)	D50E	possibly damaging	Het
Ipo9	C	T	1: 135,313,952 (GRCm39)		probably benign	Het
Lama5	G	A	2: 179,835,783 (GRCm39)	T1217I	probably benign	Het
Lct	T	A	1: 128,228,148 (GRCm39)	Y1115F	probably damaging	Het
Lpgat1	T	C	1: 191,492,120 (GRCm39)	L202P	probably damaging	Het
Lrp1	C	T	10: 127,381,671 (GRCm39)	R3801H	probably benign	Het
Mtfmt	T	A	9: 65,344,414 (GRCm39)	Y113*	probably null	Het
Myh7	A	G	14: 55,222,533 (GRCm39)	F801L	probably benign	Het
Myl4	G	T	11: 104,476,572 (GRCm39)	M191I	probably benign	Het
Myo3a	C	A	2: 22,401,074 (GRCm39)	N614K	possibly damaging	Het
Naa30	A	G	14: 49,425,059 (GRCm39)	N337S	probably benign	Het
Nol10	C	A	12: 17,466,871 (GRCm39)	Q584K	probably benign	Het
Nup210	C	A	6: 91,030,434 (GRCm39)	G919C	probably damaging	Het
Or13a20	G	A	7: 140,232,113 (GRCm39)	V74M	probably benign	Het
Or5p57	G	A	7: 107,665,513 (GRCm39)	T134I	probably benign	Het
Pdcd6ip	T	A	9: 113,514,493 (GRCm39)	Q244L	probably benign	Het
Pde4d	T	C	13: 110,074,625 (GRCm39)	V410A	probably benign	Het
Plekha7	A	T	7: 115,756,223 (GRCm39)		probably benign	Het
Plpp4	A	T	7: 128,923,211 (GRCm39)		probably null	Het
Poln	T	C	5: 34,286,769 (GRCm39)	N133S	probably benign	Het
Ppfibp1	A	G	6: 146,920,986 (GRCm39)	N575D	probably damaging	Het
Prex2	T	A	1: 11,159,930 (GRCm39)		probably null	Het
Prkar2b	A	G	12: 32,111,080 (GRCm39)	M1T	probably null	Het
Rab27b	C	A	18: 70,129,144 (GRCm39)	R50L	probably damaging	Het
Rpl7a	T	G	2: 26,801,557 (GRCm39)	F83C	probably damaging	Het
Slc8a2	A	G	7: 15,868,194 (GRCm39)	E142G	probably damaging	Het
Slc9a4	A	T	1: 40,619,928 (GRCm39)	I85L	possibly damaging	Het
Sorcs1	C	A	19: 50,241,096 (GRCm39)	W430L	possibly damaging	Het
Spaca6	T	A	17: 18,058,790 (GRCm39)		probably null	Het
Synrg	C	A	11: 83,881,567 (GRCm39)	A301E	possibly damaging	Het
Tcl1	G	A	12: 105,184,969 (GRCm39)		probably benign	Het
Tecpr1	C	T	5: 144,153,780 (GRCm39)	V158M	probably damaging	Het
Tex2	T	G	11: 106,459,230 (GRCm39)	T67P		Het
Tlr9	A	T	9: 106,103,213 (GRCm39)	I835L	probably benign	Het
Tmem185b	G	C	1: 119,454,406 (GRCm39)	V56L	probably benign	Het
Tssk2	C	T	16: 17,717,562 (GRCm39)	R322W	probably benign	Het
Ttn	T	A	2: 76,571,735 (GRCm39)	Y26386F	probably benign	Het
Txndc16	C	A	14: 45,406,771 (GRCm39)	R228I	possibly damaging	Het
Uspl1	T	G	5: 149,138,701 (GRCm39)		probably null	Het
Vmn1r113	A	T	7: 20,521,874 (GRCm39)	H222L	possibly damaging	Het
Vnn1	T	G	10: 23,776,587 (GRCm39)	S313A	probably benign	Het
Zc3hc1	A	T	6: 30,374,887 (GRCm39)	L218Q	possibly damaging	Het
Znrf1	T	G	8: 112,264,143 (GRCm39)	L124R	probably damaging	Het
Zzz3	A	T	3: 152,133,529 (GRCm39)	N196Y	possibly damaging	Het

Other mutations in Ptcd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00767:Ptcd3	APN	6	71,880,432 (GRCm39)	missense	probably damaging	0.96
IGL00903:Ptcd3	APN	6	71,884,828 (GRCm39)	missense	possibly damaging	0.93
IGL01545:Ptcd3	APN	6	71,865,561 (GRCm39)	missense	probably benign	0.01
IGL01924:Ptcd3	APN	6	71,875,411 (GRCm39)	missense	probably damaging	1.00
IGL02675:Ptcd3	APN	6	71,860,426 (GRCm39)	critical splice donor site	probably null
R0732:Ptcd3	UTSW	6	71,858,155 (GRCm39)	unclassified	probably benign
R1374:Ptcd3	UTSW	6	71,885,637 (GRCm39)	nonsense	probably null
R1393:Ptcd3	UTSW	6	71,866,605 (GRCm39)	missense	probably benign	0.00
R1498:Ptcd3	UTSW	6	71,870,479 (GRCm39)	missense	probably damaging	1.00
R1646:Ptcd3	UTSW	6	71,875,379 (GRCm39)	missense	probably benign	0.26
R1712:Ptcd3	UTSW	6	71,885,637 (GRCm39)	nonsense	probably null
R2022:Ptcd3	UTSW	6	71,862,537 (GRCm39)	missense	probably damaging	1.00
R2248:Ptcd3	UTSW	6	71,871,269 (GRCm39)	critical splice donor site	probably null
R2406:Ptcd3	UTSW	6	71,865,631 (GRCm39)	missense	probably damaging	1.00
R3418:Ptcd3	UTSW	6	71,860,470 (GRCm39)	missense	possibly damaging	0.93
R3419:Ptcd3	UTSW	6	71,860,470 (GRCm39)	missense	possibly damaging	0.93
R4677:Ptcd3	UTSW	6	71,870,498 (GRCm39)	missense	probably benign	0.17
R4741:Ptcd3	UTSW	6	71,879,933 (GRCm39)	missense	probably damaging	1.00
R4752:Ptcd3	UTSW	6	71,878,296 (GRCm39)	missense	probably damaging	0.99
R5441:Ptcd3	UTSW	6	71,858,505 (GRCm39)	missense	possibly damaging	0.62
R5583:Ptcd3	UTSW	6	71,879,920 (GRCm39)	missense	probably damaging	1.00
R5681:Ptcd3	UTSW	6	71,884,643 (GRCm39)	missense	probably damaging	1.00
R6028:Ptcd3	UTSW	6	71,875,392 (GRCm39)	missense	probably damaging	1.00
R6324:Ptcd3	UTSW	6	71,862,311 (GRCm39)	missense	probably benign	0.00
R6537:Ptcd3	UTSW	6	71,874,094 (GRCm39)	splice site	probably null
R6600:Ptcd3	UTSW	6	71,860,530 (GRCm39)	missense	probably damaging	1.00
R6783:Ptcd3	UTSW	6	71,885,627 (GRCm39)	missense	probably benign	0.00
R6810:Ptcd3	UTSW	6	71,862,516 (GRCm39)	missense	probably damaging	0.99
R6860:Ptcd3	UTSW	6	71,874,094 (GRCm39)	splice site	probably null
R6993:Ptcd3	UTSW	6	71,862,299 (GRCm39)	missense	probably damaging	1.00
R7578:Ptcd3	UTSW	6	71,885,691 (GRCm39)	missense	probably benign
R7788:Ptcd3	UTSW	6	71,862,541 (GRCm39)	missense	probably benign	0.00
R7851:Ptcd3	UTSW	6	71,879,843 (GRCm39)	missense	probably damaging	1.00
R7888:Ptcd3	UTSW	6	71,860,431 (GRCm39)	missense	probably damaging	1.00
R7889:Ptcd3	UTSW	6	71,865,592 (GRCm39)	missense	probably damaging	1.00
R7919:Ptcd3	UTSW	6	71,880,438 (GRCm39)	missense	probably damaging	1.00
R8162:Ptcd3	UTSW	6	71,884,798 (GRCm39)	missense	probably benign	0.02
R8351:Ptcd3	UTSW	6	71,885,625 (GRCm39)	missense	probably benign	0.00
R8451:Ptcd3	UTSW	6	71,885,625 (GRCm39)	missense	probably benign	0.00
R8701:Ptcd3	UTSW	6	71,862,495 (GRCm39)	missense	possibly damaging	0.92
R8826:Ptcd3	UTSW	6	71,885,645 (GRCm39)	missense	probably benign	0.01
R8969:Ptcd3	UTSW	6	71,880,431 (GRCm39)	missense	probably benign	0.44
R9031:Ptcd3	UTSW	6	71,880,458 (GRCm39)	nonsense	probably null
R9046:Ptcd3	UTSW	6	71,870,364 (GRCm39)	critical splice donor site	probably null
R9384:Ptcd3	UTSW	6	71,874,110 (GRCm39)	missense	possibly damaging	0.77
R9668:Ptcd3	UTSW	6	71,871,275 (GRCm39)	missense	possibly damaging	0.93
R9771:Ptcd3	UTSW	6	71,872,903 (GRCm39)	nonsense	probably null
X0024:Ptcd3	UTSW	6	71,878,258 (GRCm39)	missense	probably damaging	1.00
X0065:Ptcd3	UTSW	6	71,884,790 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACACCATGTCTCCAACCTTG -3'
(R):5'- ACGGTGATCTCATCTGCTTATG -3'

Sequencing Primer
(F):5'- TTAGGATCCACTGCAACTGG -3'
(R):5'- CATCTGCTTATGAGATGAGCTAAAAC -3'

Posted On

2021-08-02