Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02632:Pdcd2'

301329

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdcd2

Ensembl Gene

ENSMUSG00000014771

Gene Name

programmed cell death 2

Synonyms

RP-8

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02632

Quality Score

Status

Chromosome

Chromosomal Location

15739472-15747560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15742054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 292 (V292A)

Ref Sequence

ENSEMBL: ENSMUSP00000052523 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014911] [ENSMUST00000054450] [ENSMUST00000117593] [ENSMUST00000118001] [ENSMUST00000162505] [ENSMUST00000154293] [ENSMUST00000153480]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000014911

SMART Domains

Protein: ENSMUSP00000014911
Gene: ENSMUSG00000014767

Domain	Start	End	E-Value	Type
low complexity region	55	97	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC
low complexity region	117	133	N/A	INTRINSIC
Pfam:TBP	138	222	4.3e-34	PFAM
Pfam:TBP	227	313	3.4e-35	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000054450
AA Change: V292A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000052523
Gene: ENSMUSG00000014771
AA Change: V292A

Domain	Start	End	E-Value	Type
low complexity region	35	50	N/A	INTRINSIC
Pfam:zf-MYND	134	171	2.2e-10	PFAM
Pfam:PDCD2_C	188	338	6e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117593

SMART Domains

Protein: ENSMUSP00000112794
Gene: ENSMUSG00000014767

Domain	Start	End	E-Value	Type
low complexity region	55	97	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC
low complexity region	117	133	N/A	INTRINSIC
Pfam:TBP	138	222	4.3e-34	PFAM
Pfam:TBP	227	313	3.4e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118001

SMART Domains

Protein: ENSMUSP00000113999
Gene: ENSMUSG00000014767

Domain	Start	End	E-Value	Type
low complexity region	55	97	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC
low complexity region	117	133	N/A	INTRINSIC
Pfam:TBP	138	204	1.4e-29	PFAM
Pfam:TBP	203	257	4.4e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125709

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137233

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139610

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149518

Predicted Effect

probably benign
Transcript: ENSMUST00000162505

SMART Domains

Protein: ENSMUSP00000124317
Gene: ENSMUSG00000014767

Domain	Start	End	E-Value	Type
low complexity region	55	97	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC
low complexity region	117	133	N/A	INTRINSIC
Pfam:TBP	139	221	1.1e-34	PFAM
Pfam:TBP	229	312	8.5e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154293

SMART Domains

Protein: ENSMUSP00000118625
Gene: ENSMUSG00000014771

Domain	Start	End	E-Value	Type
low complexity region	35	50	N/A	INTRINSIC
Pfam:zf-MYND	134	171	4.3e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153480

SMART Domains

Protein: ENSMUSP00000114471
Gene: ENSMUSG00000014767

Domain	Start	End	E-Value	Type
Pfam:TBP	30	114	5e-35	PFAM
Pfam:TBP	119	205	4.4e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232149

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein expressed in a variety of tissues. Expression of this gene has been shown to be repressed by B-cell CLL/lymphoma 6 (BCL6), a transcriptional repressor required for lymph node germinal center development, suggesting that BCL6 regulates apoptosis by its effects on this protein. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chromosomes 9 and 12. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality before implantation with most arresting before the blastocyst satge. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	T	C	8: 41,208,237 (GRCm39)	V501A	possibly damaging	Het
Alpl	T	G	4: 137,481,217 (GRCm39)	N145T	probably damaging	Het
Aqp5	T	A	15: 99,491,216 (GRCm39)		probably benign	Het
Atp1a2	T	A	1: 172,108,181 (GRCm39)	D640V	possibly damaging	Het
Atp5po	T	C	16: 91,725,830 (GRCm39)	E49G	probably benign	Het
Card14	A	G	11: 119,229,730 (GRCm39)	D747G	probably benign	Het
Cfap47	A	T	X: 78,540,279 (GRCm39)	L553H	probably damaging	Het
Cpz	A	T	5: 35,669,155 (GRCm39)	D325E	possibly damaging	Het
Crim1	T	C	17: 78,680,103 (GRCm39)	I948T	probably benign	Het
Dpysl3	A	T	18: 43,526,090 (GRCm39)	S2T	possibly damaging	Het
Fat4	T	C	3: 39,056,913 (GRCm39)	V4203A	probably benign	Het
Gapvd1	G	A	2: 34,574,186 (GRCm39)		probably benign	Het
Gpatch2	A	G	1: 186,958,178 (GRCm39)	R155G	probably damaging	Het
Grpr	A	T	X: 162,298,090 (GRCm39)	V318E	probably damaging	Het
Hipk1	T	C	3: 103,667,861 (GRCm39)	T569A	probably benign	Het
Il3ra	G	A	14: 14,350,807 (GRCm38)		probably null	Het
Llgl2	A	G	11: 115,735,698 (GRCm39)	H98R	probably damaging	Het
Loxhd1	A	G	18: 77,493,628 (GRCm39)	D663G	probably damaging	Het
Lrrc71	T	C	3: 87,650,647 (GRCm39)	N205S	probably damaging	Het
Mamdc2	C	T	19: 23,308,340 (GRCm39)	E521K	probably benign	Het
Mapre2	A	G	18: 23,991,217 (GRCm39)	M162V	probably benign	Het
Mettl22	T	C	16: 8,302,117 (GRCm39)		probably benign	Het
Mib2	T	C	4: 155,740,036 (GRCm39)	D739G	probably damaging	Het
Mroh2b	T	C	15: 4,960,583 (GRCm39)	F772S	probably damaging	Het
Mtss1	C	T	15: 58,815,864 (GRCm39)	M565I	probably damaging	Het
Myt1l	T	G	12: 29,964,292 (GRCm39)	S1077A	unknown	Het
Nalcn	T	C	14: 123,555,265 (GRCm39)	T873A	probably benign	Het
Nwd1	T	A	8: 73,394,082 (GRCm39)	H448Q	possibly damaging	Het
Odad2	A	G	18: 7,214,727 (GRCm39)		probably benign	Het
Or14j3	T	C	17: 37,901,232 (GRCm39)	E4G	probably benign	Het
Or51m1	A	G	7: 103,578,914 (GRCm39)	I295V	possibly damaging	Het
Or5j3	T	C	2: 86,128,904 (GRCm39)	V248A	probably damaging	Het
Palld	C	T	8: 61,968,279 (GRCm39)	E1096K	probably damaging	Het
Pde2a	A	G	7: 101,153,863 (GRCm39)	Y477C	probably damaging	Het
Pramel16	A	G	4: 143,676,507 (GRCm39)	I199T	possibly damaging	Het
Rcbtb1	T	C	14: 59,462,131 (GRCm39)	L254P	probably damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rsl1	A	C	13: 67,330,227 (GRCm39)	H225P	probably damaging	Het
Sec14l2	T	C	11: 4,061,222 (GRCm39)	I80V	probably benign	Het
Sema6a	G	T	18: 47,423,222 (GRCm39)	D261E	probably damaging	Het
Serpinb9b	T	A	13: 33,223,806 (GRCm39)	S333T	probably benign	Het
Slc24a4	T	C	12: 102,200,941 (GRCm39)	V277A	probably benign	Het
Snap91	T	A	9: 86,721,575 (GRCm39)	H88L	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tmprss15	T	A	16: 78,782,790 (GRCm39)	N758I	probably damaging	Het
Ube3b	C	T	5: 114,536,902 (GRCm39)	A300V	probably benign	Het
Vmn2r82	G	A	10: 79,192,542 (GRCm39)	V40I	probably benign	Het
Vsig4	G	T	X: 95,291,378 (GRCm39)	Q265K	probably benign	Het
Wdr91	T	C	6: 34,865,977 (GRCm39)	D525G	probably damaging	Het

Other mutations in Pdcd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0433:Pdcd2	UTSW	17	15,746,646 (GRCm39)	missense	probably benign	0.37
R1368:Pdcd2	UTSW	17	15,746,846 (GRCm39)	missense	probably damaging	1.00
R5083:Pdcd2	UTSW	17	15,743,084 (GRCm39)	missense	possibly damaging	0.50
R5508:Pdcd2	UTSW	17	15,742,001 (GRCm39)	missense	probably damaging	1.00
R5963:Pdcd2	UTSW	17	15,746,657 (GRCm39)	missense	probably damaging	1.00
R5963:Pdcd2	UTSW	17	15,746,656 (GRCm39)	missense	possibly damaging	0.91
R6944:Pdcd2	UTSW	17	15,745,632 (GRCm39)	missense	possibly damaging	0.82
R6993:Pdcd2	UTSW	17	15,747,343 (GRCm39)	missense	probably damaging	1.00
R9667:Pdcd2	UTSW	17	15,747,535 (GRCm39)	start codon destroyed	probably damaging	0.98

Posted On

2015-04-16