Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00980:Dppa2'

29203

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 #

IGL00980

Quality Score

Status

Chromosome

Chromosomal Location

48130637-48139876 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48132049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 49 (S49P)

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: S49P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110183
Gene: ENSMUSG00000072419
AA Change: S49P

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: S49P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	A	T	14: 66,293,977 (GRCm39)	Y283*	probably null	Het
Bend3	C	A	10: 43,387,562 (GRCm39)	Q652K	probably damaging	Het
Bltp1	C	T	3: 37,054,190 (GRCm39)	T3103I	probably damaging	Het
Ccdc136	G	A	6: 29,420,257 (GRCm39)	S992N	probably damaging	Het
Cct6a	T	C	5: 129,868,856 (GRCm39)		probably benign	Het
Cd74	A	T	18: 60,944,398 (GRCm39)	I203F	probably benign	Het
Cd8b1	C	A	6: 71,309,463 (GRCm39)	C182*	probably null	Het
Cmtr1	T	A	17: 29,910,258 (GRCm39)	D454E	probably benign	Het
Cyp2b13	T	A	7: 25,781,152 (GRCm39)	F188Y	probably benign	Het
Fhl5	G	T	4: 25,207,181 (GRCm39)	L196I	possibly damaging	Het
Gimap4	T	A	6: 48,667,872 (GRCm39)	V81D	probably damaging	Het
Gm4884	T	G	7: 40,693,150 (GRCm39)	M373R	probably damaging	Het
Gnrhr	C	T	5: 86,345,162 (GRCm39)		probably null	Het
H2-Oa	T	G	17: 34,313,537 (GRCm39)	L196R	probably damaging	Het
Icosl	T	C	10: 77,907,805 (GRCm39)	S122P	probably damaging	Het
Itpr3	A	G	17: 27,329,930 (GRCm39)	T1575A	probably benign	Het
Krt80	T	C	15: 101,247,879 (GRCm39)	K373E	possibly damaging	Het
Lamp1	G	A	8: 13,221,195 (GRCm39)		probably benign	Het
Npvf	T	C	6: 50,627,865 (GRCm39)	K185E	probably damaging	Het
Nuf2	A	G	1: 169,338,003 (GRCm39)	M258T	probably damaging	Het
Or6b2	T	C	1: 92,407,402 (GRCm39)		probably null	Het
Or8b36	G	A	9: 37,937,107 (GRCm39)	V2I	probably benign	Het
Smurf2	A	C	11: 106,726,921 (GRCm39)	I469S	probably damaging	Het
Soat1	T	A	1: 156,268,911 (GRCm39)	H180L	probably benign	Het
Spink5	G	T	18: 44,140,777 (GRCm39)	D659Y	probably damaging	Het
Sprtn	T	C	8: 125,627,037 (GRCm39)	M139T	probably damaging	Het
Tas2r140	T	C	6: 40,468,352 (GRCm39)	S61P	possibly damaging	Het
Tec	G	A	5: 72,944,141 (GRCm39)	L89F	probably damaging	Het
Trav21-dv12	A	T	14: 54,114,107 (GRCm39)	M76L	probably benign	Het
Ttc7	A	C	17: 87,628,874 (GRCm39)	T271P	possibly damaging	Het
Tyk2	G	A	9: 21,031,884 (GRCm39)	T397I	probably benign	Het
Ugt1a6b	T	A	1: 88,035,327 (GRCm39)	Y222N	possibly damaging	Het
Vmn2r2	A	T	3: 64,024,601 (GRCm39)	M660K	probably benign	Het
Vmn2r52	T	A	7: 9,905,017 (GRCm39)	Y274F	probably damaging	Het
Wscd1	A	C	11: 71,679,768 (GRCm39)	N547T	possibly damaging	Het
Zfp335	C	A	2: 164,744,594 (GRCm39)	E394*	probably null	Het

Other mutations in Dppa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01365:Dppa2	APN	16	48,134,276 (GRCm39)	missense	possibly damaging	0.83
IGL03279:Dppa2	APN	16	48,132,028 (GRCm39)	missense	possibly damaging	0.91
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

2013-04-17