Mutagenetix > Incidental Mutation

Incidental Mutation 'R0549:Dppa2'

45044

Institutional Source

Beutler Lab

Gene Symbol

Dppa2

Ensembl Gene

ENSMUSG00000072419

Gene Name

developmental pluripotency associated 2

Synonyms

ECAT15-2, 2410088E07Rik

MMRRC Submission

038741-MU

Accession Numbers

Essential gene?

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

Stock #

R0549 (G1)

Quality Score

136

Status

Validated

Chromosome

Chromosomal Location

48130637-48139876 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 48139034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 289 (R289H)

Ref Sequence

ENSEMBL: ENSMUSP00000156143 (fasta)

Gene Model

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

AlphaFold

Q9CWH0

Predicted Effect

probably benign
Transcript: ENSMUST00000097175
AA Change: R289H

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000110183
Gene: ENSMUSG00000072419
AA Change: R289H

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

probably benign
Transcript: ENSMUST00000232448
AA Change: R289H

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.3%

Validation Efficiency

96% (48/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	G	17: 46,633,216 (GRCm39)	F498L	probably damaging	Het
Adamts6	A	T	13: 104,433,763 (GRCm39)	D64V	possibly damaging	Het
Agbl2	T	C	2: 90,620,187 (GRCm39)		probably benign	Het
Angptl3	A	G	4: 98,919,692 (GRCm39)	S151G	probably benign	Het
Arhgap39	C	T	15: 76,619,086 (GRCm39)	D833N	probably damaging	Het
C4b	G	T	17: 34,954,389 (GRCm39)	L927I	probably damaging	Het
Ccl3	T	C	11: 83,539,162 (GRCm39)	T66A	probably damaging	Het
Cdh20	T	C	1: 110,036,674 (GRCm39)	L618P	probably damaging	Het
Cfap65	T	C	1: 74,957,603 (GRCm39)	T989A	probably benign	Het
Cfhr4	A	T	1: 139,667,226 (GRCm39)	D377E	probably damaging	Het
Cnpy4	T	C	5: 138,185,899 (GRCm39)	F18S	possibly damaging	Het
Col6a5	A	G	9: 105,781,778 (GRCm39)		probably benign	Het
Evx2	T	C	2: 74,489,478 (GRCm39)	T96A	probably benign	Het
Frmd4a	A	G	2: 4,608,778 (GRCm39)	E577G	possibly damaging	Het
Gcgr	G	A	11: 120,427,387 (GRCm39)	G166S	probably benign	Het
Gm5316	T	C	6: 122,877,150 (GRCm39)		noncoding transcript	Het
Gria1	G	A	11: 57,119,799 (GRCm39)	R292Q	probably damaging	Het
Hars2	T	A	18: 36,919,261 (GRCm39)		probably null	Het
Hkdc1	T	A	10: 62,236,019 (GRCm39)	T508S	probably benign	Het
Kif2b	A	T	11: 91,467,410 (GRCm39)	I291N	probably damaging	Het
Lmbrd1	A	T	1: 24,784,001 (GRCm39)	T377S	probably benign	Het
Lrrc28	A	G	7: 67,278,090 (GRCm39)		probably benign	Het
Mmp3	A	T	9: 7,455,638 (GRCm39)	N463I	probably benign	Het
Myh6	A	G	14: 55,196,065 (GRCm39)	F578S	probably damaging	Het
Ncbp1	T	A	4: 46,168,476 (GRCm39)	M608K	possibly damaging	Het
Nf1	T	C	11: 79,359,597 (GRCm39)	F1412L	probably damaging	Het
Nlrp5	T	A	7: 23,141,227 (GRCm39)	W1083R	probably damaging	Het
Nrsn1	T	C	13: 25,446,241 (GRCm39)	Y45C	probably benign	Het
Or3a1b	T	G	11: 74,012,301 (GRCm39)	M62R	probably damaging	Het
Osbpl7	G	T	11: 96,958,368 (GRCm39)	R881L	probably damaging	Het
Papss1	A	G	3: 131,324,974 (GRCm39)	E456G	possibly damaging	Het
Pbxip1	T	A	3: 89,350,899 (GRCm39)		probably benign	Het
Pcca	A	G	14: 122,875,789 (GRCm39)		probably benign	Het
Pde1a	T	A	2: 79,695,414 (GRCm39)	N511I	probably damaging	Het
Prpf39	A	T	12: 65,103,030 (GRCm39)	I435F	probably benign	Het
Rnf213	C	T	11: 119,355,908 (GRCm39)	T4117M	probably damaging	Het
Sel1l2	A	T	2: 140,107,802 (GRCm39)	M216K	probably damaging	Het
Sidt2	A	G	9: 45,864,417 (GRCm39)		probably null	Het
Sirt3	A	T	7: 140,449,400 (GRCm39)		probably null	Het
Smpd4	T	C	16: 17,457,176 (GRCm39)	V378A	probably benign	Het
Svil	T	A	18: 5,064,566 (GRCm39)	S642T	possibly damaging	Het
Tcp10a	A	G	17: 7,593,950 (GRCm39)	K92E	probably benign	Het
Tmem144	T	C	3: 79,730,051 (GRCm39)	D233G	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tnik	T	C	3: 28,625,069 (GRCm39)	S335P	possibly damaging	Het
Ush2a	T	C	1: 188,679,150 (GRCm39)	L4786P	probably damaging	Het
Utp11	A	T	4: 124,579,872 (GRCm39)		probably benign	Het
Vmn1r67	A	G	7: 10,181,641 (GRCm39)	N241D	probably damaging	Het
Vmn2r11	A	T	5: 109,199,963 (GRCm39)	C497S	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- ATTCAGGCAAGCCATCTCAGGGAC -3'
(R):5'- GCTAAGCATTTAGCCAATCCAGCAC -3'

Sequencing Primer
(F):5'- CATCTCAGGGACTCCAGAAATGG -3'
(R):5'- GATTTGTCAACAGAGTCTCCAC -3'

Posted On

2013-06-11