Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03279:Dppa2'

415529

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dppa2

Ensembl Gene

ENSMUSG00000072419

Gene Name

developmental pluripotency associated 2

Synonyms

ECAT15-2, 2410088E07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

IGL03279

Quality Score

Status

Chromosome

Chromosomal Location

48130637-48139876 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48132028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 42 (T42A)

Ref Sequence

ENSEMBL: ENSMUSP00000156143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097175] [ENSMUST00000232448]

AlphaFold

Q9CWH0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097175
AA Change: T42A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110183
Gene: ENSMUSG00000072419
AA Change: T42A

Domain	Start	End	E-Value	Type
SAP	85	119	2.86e-1	SMART
Pfam:Dppa2_A	124	206	2.3e-34	PFAM
Pfam:DCR	211	277	4.7e-40	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232448
AA Change: T42A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	A	11: 119,904,504 (GRCm39)	D224V	probably damaging	Het
Abca4	C	A	3: 121,935,381 (GRCm39)	N1526K	probably benign	Het
Aif1	T	A	17: 35,390,523 (GRCm39)	K76*	probably null	Het
Arap2	A	G	5: 62,779,253 (GRCm39)	S1446P	probably damaging	Het
Cyb5rl	A	T	4: 106,941,325 (GRCm39)	E250V	possibly damaging	Het
Dock3	T	C	9: 106,788,447 (GRCm39)		probably benign	Het
Drosha	C	T	15: 12,859,478 (GRCm39)	P562L	probably benign	Het
Egfl7	C	A	2: 26,480,719 (GRCm39)	H126N	probably benign	Het
Gm5852	T	C	3: 93,634,584 (GRCm39)		noncoding transcript	Het
Gpr161	T	C	1: 165,138,098 (GRCm39)	F228S	probably damaging	Het
Grid1	T	A	14: 34,667,722 (GRCm39)	M83K	probably damaging	Het
Gsdma2	T	C	11: 98,548,549 (GRCm39)	S434P	unknown	Het
Hao2	T	A	3: 98,787,712 (GRCm39)	N239I	possibly damaging	Het
Hsd17b14	A	T	7: 45,215,617 (GRCm39)	I206F	possibly damaging	Het
Kansl1l	A	T	1: 66,774,825 (GRCm39)	V667E	probably damaging	Het
Kdm3a	T	C	6: 71,588,659 (GRCm39)	D450G	probably benign	Het
Lmo7	C	A	14: 102,137,944 (GRCm39)	A882E	probably benign	Het
P4ha3	A	G	7: 99,949,893 (GRCm39)	Y254C	probably damaging	Het
Pcdh15	A	G	10: 74,152,904 (GRCm39)	Y408C	probably damaging	Het
Pglyrp3	T	C	3: 91,933,834 (GRCm39)	Y160H	probably damaging	Het
Pnma5	G	A	X: 72,079,605 (GRCm39)	T359I	probably benign	Het
Ptbp3	A	T	4: 59,476,937 (GRCm39)	H440Q	possibly damaging	Het
Rbx1	A	G	15: 81,352,399 (GRCm39)	N41S	probably damaging	Het
Rpl3	G	A	15: 79,962,560 (GRCm39)	T340I	probably benign	Het
Scrn1	G	A	6: 54,525,322 (GRCm39)	R16*	probably null	Het
Sema6a	A	T	18: 47,433,157 (GRCm39)	C91*	probably null	Het
Slco6d1	T	A	1: 98,394,405 (GRCm39)	V363E	probably damaging	Het
Stk38	A	G	17: 29,203,179 (GRCm39)		probably benign	Het
Tanc2	G	A	11: 105,803,918 (GRCm39)		probably null	Het
Thada	A	G	17: 84,742,988 (GRCm39)	F812S	probably benign	Het
Tubb4b-ps1	A	G	5: 7,229,630 (GRCm39)		probably benign	Het
Veph1	T	C	3: 66,162,443 (GRCm39)	T72A	probably damaging	Het
Vps52	T	A	17: 34,176,848 (GRCm39)	D67E	probably damaging	Het

Other mutations in Dppa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00980:Dppa2	APN	16	48,132,049 (GRCm39)	missense	possibly damaging	0.93
IGL01365:Dppa2	APN	16	48,134,276 (GRCm39)	missense	possibly damaging	0.83
IGL03331:Dppa2	APN	16	48,134,242 (GRCm39)	splice site	probably benign
R0048:Dppa2	UTSW	16	48,137,761 (GRCm39)	missense	probably benign	0.02
R0549:Dppa2	UTSW	16	48,139,034 (GRCm39)	missense	probably benign	0.20
R1321:Dppa2	UTSW	16	48,131,999 (GRCm39)	missense	possibly damaging	0.72
R1826:Dppa2	UTSW	16	48,137,711 (GRCm39)	missense	probably damaging	0.98
R4553:Dppa2	UTSW	16	48,130,877 (GRCm39)	missense	possibly damaging	0.59
R5124:Dppa2	UTSW	16	48,131,986 (GRCm39)	missense	probably damaging	0.98
R5144:Dppa2	UTSW	16	48,137,666 (GRCm39)	missense	probably damaging	0.98
R5983:Dppa2	UTSW	16	48,136,204 (GRCm39)	missense	probably benign	0.03
R6638:Dppa2	UTSW	16	48,134,523 (GRCm39)	missense	possibly damaging	0.86
R7060:Dppa2	UTSW	16	48,136,076 (GRCm39)	missense	probably benign	0.02

Posted On

2016-08-02