Mutagenetix > Incidental Mutation

Incidental Mutation 'R8826:Ptcd3'

673447

Institutional Source

Beutler Lab

Gene Symbol

Ptcd3

Ensembl Gene

ENSMUSG00000063884

Gene Name

pentatricopeptide repeat domain 3

Synonyms

2610034F17Rik, 2810422B04Rik

MMRRC Submission

068729-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8826 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71857622-71885734 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71885645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 27 (G27D)

Ref Sequence

ENSEMBL: ENSMUSP00000080743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055296] [ENSMUST00000082094] [ENSMUST00000206556] [ENSMUST00000206879]

AlphaFold

Q14C51

Predicted Effect

probably benign
Transcript: ENSMUST00000055296

SMART Domains

Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553

Domain	Start	End	E-Value	Type
RPOLA_N	302	649	8.97e-137	SMART
Pfam:RNA_pol_Rpb1_4	846	958	1.3e-26	PFAM
Pfam:RNA_pol_Rpb1_5	965	1669	7e-103	PFAM
low complexity region	1698	1708	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000082094
AA Change: G27D

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000080743
Gene: ENSMUSG00000063884
AA Change: G27D

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: ENSMUST00000206556

Predicted Effect

probably benign
Transcript: ENSMUST00000206879
AA Change: G27D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (91/91)

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta1	T	C	8: 124,619,978 (GRCm39)	M121V	probably damaging	Het
AI987944	A	T	7: 41,024,627 (GRCm39)	H120Q	possibly damaging	Het
Aldh9a1	C	G	1: 167,184,119 (GRCm39)	P205A	probably damaging	Het
Ank2	A	T	3: 126,740,951 (GRCm39)	N1644K	unknown	Het
Arfgef2	A	T	2: 166,677,386 (GRCm39)		probably benign	Het
Bpifb4	G	T	2: 153,783,817 (GRCm39)	V54L	probably benign	Het
Cacna1c	T	A	6: 118,711,836 (GRCm39)	M456L		Het
Cbln1	T	C	8: 88,198,420 (GRCm39)	N95S	probably benign	Het
Ccl11	G	T	11: 81,953,044 (GRCm39)	R67S	possibly damaging	Het
Cd200	G	A	16: 45,215,157 (GRCm39)	R165C	probably benign	Het
Cd2bp2	A	T	7: 126,793,257 (GRCm39)	M283K	probably damaging	Het
Cd86	G	T	16: 36,435,650 (GRCm39)	L256I	possibly damaging	Het
Ces2f	T	A	8: 105,679,734 (GRCm39)	F409Y	probably benign	Het
Cisd3	A	T	11: 97,579,158 (GRCm39)	Q100L	probably damaging	Het
Cntnap1	C	T	11: 101,077,655 (GRCm39)	R1106C	probably damaging	Het
Col6a2	A	T	10: 76,439,433 (GRCm39)	M777K	probably damaging	Het
Cp	A	G	3: 20,039,739 (GRCm39)	Y852C	probably damaging	Het
Ddx1	T	C	12: 13,277,332 (GRCm39)	E523G	probably damaging	Het
Ddx60	T	A	8: 62,398,990 (GRCm39)	D236E	probably benign	Het
Dnah9	A	T	11: 65,740,742 (GRCm39)	F4148Y	probably benign	Het
Dusp6	G	T	10: 99,099,469 (GRCm39)		probably benign	Het
Eif2a	C	A	3: 58,456,049 (GRCm39)	Y349*	probably null	Het
Enpep	G	A	3: 129,065,067 (GRCm39)	T874I	probably damaging	Het
Eps15	A	G	4: 109,169,505 (GRCm39)	D105G	possibly damaging	Het
Ess2	A	T	16: 17,722,954 (GRCm39)	M320K	probably damaging	Het
Exosc10	G	A	4: 148,653,159 (GRCm39)		probably null	Het
Fam13b	A	T	18: 34,631,070 (GRCm39)	N36K	probably damaging	Het
Fanca	T	C	8: 123,995,209 (GRCm39)	D1431G	probably benign	Het
Fgg	A	G	3: 82,921,625 (GRCm39)	D436G	probably benign	Het
Fip1l1	C	T	5: 74,725,188 (GRCm39)	T251I	probably benign	Het
Galnt2	A	G	8: 125,032,347 (GRCm39)	N104S	probably damaging	Het
Gmip	T	C	8: 70,268,748 (GRCm39)	S458P	possibly damaging	Het
Herc2	A	G	7: 55,756,144 (GRCm39)	D728G	probably benign	Het
Hif3a	A	G	7: 16,788,671 (GRCm39)	L100P	probably damaging	Het
Hmox2	C	G	16: 4,583,866 (GRCm39)	P282R	possibly damaging	Het
Hook1	A	T	4: 95,880,432 (GRCm39)	H90L	probably benign	Het
Igf2bp2	C	A	16: 21,883,866 (GRCm39)	G473C	probably damaging	Het
Ip6k2	T	C	9: 108,675,379 (GRCm39)		probably null	Het
Ipo5	G	T	14: 121,157,366 (GRCm39)	R68L	probably damaging	Het
Kif19b	A	G	5: 140,455,434 (GRCm39)	M347V	probably damaging	Het
Klhdc1	G	T	12: 69,305,392 (GRCm39)	W234L	probably damaging	Het
Krt8	A	G	15: 101,909,870 (GRCm39)	V178A	possibly damaging	Het
Lgi3	T	A	14: 70,768,712 (GRCm39)		probably null	Het
Litaf	T	G	16: 10,784,421 (GRCm39)	N30H	probably benign	Het
Lman2	C	A	13: 55,510,368 (GRCm39)	W12L	unknown	Het
Macf1	A	G	4: 123,276,022 (GRCm39)	L6182P	probably damaging	Het
Magi3	A	T	3: 103,992,662 (GRCm39)	M270K	probably benign	Het
Mapre2	A	T	18: 23,886,888 (GRCm39)		probably benign	Het
Minar1	T	A	9: 89,483,234 (GRCm39)	E721V	probably damaging	Het
Mllt10	T	A	2: 18,167,353 (GRCm39)	V426D	probably benign	Het
Mrgprf	A	G	7: 144,862,046 (GRCm39)	I203V	probably benign	Het
Mrnip	G	A	11: 50,067,688 (GRCm39)	C27Y	probably damaging	Het
Mrpl24	C	T	3: 87,829,701 (GRCm39)	R96*	probably null	Het
Nbas	T	A	12: 13,402,875 (GRCm39)		probably benign	Het
Nipal4	G	A	11: 46,045,470 (GRCm39)	T131M	possibly damaging	Het
Nlrp12	T	C	7: 3,289,621 (GRCm39)	D297G	possibly damaging	Het
Nol6	A	C	4: 41,121,823 (GRCm39)	M237R	probably benign	Het
Olig1	A	G	16: 91,067,027 (GRCm39)	E88G	probably benign	Het
Or1j19	T	A	2: 36,676,855 (GRCm39)	L106*	probably null	Het
Parg	A	G	14: 31,931,175 (GRCm39)	D265G	possibly damaging	Het
Pcdhgb8	A	T	18: 37,895,301 (GRCm39)	I124L	probably damaging	Het
Pign	A	G	1: 105,481,827 (GRCm39)	F822L	probably damaging	Het
Plch2	T	C	4: 155,071,140 (GRCm39)	T1080A	probably benign	Het
Pld4	A	T	12: 112,733,210 (GRCm39)	Y262F	possibly damaging	Het
Ppp1r12b	A	G	1: 134,693,730 (GRCm39)	V977A	probably benign	Het
Ppp6r3	C	T	19: 3,521,984 (GRCm39)	E565K		Het
Psmg2	A	G	18: 67,787,158 (GRCm39)		probably benign	Het
Retreg2	G	T	1: 75,119,525 (GRCm39)	G7C	unknown	Het
Rlbp1	A	T	7: 79,027,114 (GRCm39)	F182Y	probably benign	Het
Rnf148	G	C	6: 23,654,378 (GRCm39)	S206C	probably benign	Het
Sash1	A	G	10: 8,637,869 (GRCm39)	M1T	probably null	Het
Shank3	A	T	15: 89,433,598 (GRCm39)	T1448S	probably damaging	Het
Sipa1l1	A	G	12: 82,389,207 (GRCm39)	K478E	probably damaging	Het
Slitrk6	A	G	14: 110,988,801 (GRCm39)	I302T	probably benign	Het
Smc1b	A	G	15: 84,950,529 (GRCm39)	V1165A	probably damaging	Het
Sncaip	A	T	18: 53,048,381 (GRCm39)	H939L	probably benign	Het
Stn1	T	C	19: 47,524,709 (GRCm39)	D27G	probably damaging	Het
Sugct	T	G	13: 17,427,180 (GRCm39)		probably null	Het
Tmem259	A	G	10: 79,814,983 (GRCm39)	S214P	probably damaging	Het
Trdv4	G	A	14: 54,312,946 (GRCm39)	G107S	probably damaging	Het
Ttc3	C	T	16: 94,232,829 (GRCm39)	L957F	possibly damaging	Het
Ttn	A	G	2: 76,711,471 (GRCm39)	Y8357H	unknown	Het
Twnk	T	C	19: 44,996,434 (GRCm39)	V289A	probably benign	Het
Umodl1	A	G	17: 31,202,958 (GRCm39)	D437G	possibly damaging	Het
Upf1	T	C	8: 70,790,930 (GRCm39)	T590A	probably benign	Het
Vmn2r63	A	T	7: 42,576,441 (GRCm39)	D457E	probably benign	Het
Wdr82	A	T	9: 106,061,975 (GRCm39)	T213S	probably benign	Het
Zfp267	T	C	3: 36,218,255 (GRCm39)	Y93H	possibly damaging	Het
Zfp672	A	T	11: 58,220,590 (GRCm39)	M3K	unknown	Het
Zfyve26	A	G	12: 79,285,742 (GRCm39)	V2345A	probably benign	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
R8926:Ptcd3	UTSW	6	71,869,464 (GRCm39)	missense	probably damaging	1.00
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'- GAATTCCCGAACTCGCAGATC -3'
(R):5'- GATGTGTACTGAGCGTTCCG -3'

Sequencing Primer
(F):5'- TTCCCGAACTCGCAGATCTAAAG -3'
(R):5'- TAGTCTAGCCAAACAGGACCTTGTG -3'

Posted On

2021-07-15