Mutagenetix > Incidental Mutation

Incidental Mutation 'R5041:Ap3s2'

393212

Institutional Source

Beutler Lab

Gene Symbol

Ap3s2

Ensembl Gene

ENSMUSG00000063801

Gene Name

adaptor-related protein complex 3, sigma 2 subunit

Synonyms

sigma 3B, [s]3B

MMRRC Submission

042631-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5041 (G1)

Quality Score

163

Status

Validated

Chromosome

Chromosomal Location

79525073-79570388 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79570267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 20 (Y20C)

Ref Sequence

ENSEMBL: ENSMUSP00000075082 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048731] [ENSMUST00000075657] [ENSMUST00000206725]

AlphaFold

Q8BSZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000048731

SMART Domains

Protein: ENSMUSP00000049440
Gene: ENSMUSG00000039043

Domain	Start	End	E-Value	Type
Pfam:UPF0552	1	224	4e-110	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000075657
AA Change: Y20C

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000075082
Gene: ENSMUSG00000063801
AA Change: Y20C

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	1	148	9.5e-55	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205705

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206403

Predicted Effect

unknown
Transcript: ENSMUST00000206725
AA Change: Y20C

Meta Mutation Damage Score

0.9540

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	A	G	16: 56,550,711 (GRCm39)	F667S	probably benign	Het
Akna	A	G	4: 63,305,381 (GRCm39)	Y462H	possibly damaging	Het
Anxa11	G	T	14: 25,875,188 (GRCm39)	E278*	probably null	Het
Atxn7	T	C	14: 14,096,317 (GRCm38)		probably null	Het
AW551984	T	C	9: 39,511,894 (GRCm39)	Y39C	probably damaging	Het
Becn1	A	T	11: 101,179,662 (GRCm39)	S442T	probably benign	Het
Bhlhe40	C	T	6: 108,639,546 (GRCm39)	T108I	probably damaging	Het
Cnst	A	G	1: 179,432,593 (GRCm39)	D252G	probably damaging	Het
Cpxm1	A	G	2: 130,235,990 (GRCm39)	S391P	probably damaging	Het
Ctnna2	T	A	6: 76,892,746 (GRCm39)	N814Y	probably damaging	Het
Ddx3y	T	A	Y: 1,266,611 (GRCm39)	Y282F	probably benign	Het
Ddx56	A	G	11: 6,214,178 (GRCm39)	V357A	probably damaging	Het
Frmpd1	T	G	4: 45,278,878 (GRCm39)	C534W	probably damaging	Het
Gimap8	A	G	6: 48,636,097 (GRCm39)	N621D	probably damaging	Het
Herc1	T	A	9: 66,336,327 (GRCm39)	I1624N	possibly damaging	Het
Htr7	A	C	19: 36,034,467 (GRCm39)	W63G	probably benign	Het
Ly6g6c	T	A	17: 35,284,428 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,290,839 (GRCm39)		probably null	Het
Mfrp	A	G	9: 44,013,575 (GRCm39)	D62G	probably damaging	Het
Ncam1	T	C	9: 49,478,085 (GRCm39)	Y173C	probably damaging	Het
Nwd1	T	C	8: 73,431,683 (GRCm39)	V1185A	possibly damaging	Het
Or4c113	A	T	2: 88,885,265 (GRCm39)	C168*	probably null	Het
Or51h7	T	C	7: 102,591,785 (GRCm39)		probably null	Het
Pcf11	G	A	7: 92,307,613 (GRCm39)	P852S	probably benign	Het
Pramel25	T	C	4: 143,520,260 (GRCm39)	V4A	probably benign	Het
Ralgapa2	T	C	2: 146,327,071 (GRCm39)	I63V	probably benign	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,132 (GRCm39)		probably benign	Het
Rubcnl	T	C	14: 75,287,572 (GRCm39)	F619L	probably damaging	Het
Sec24d	A	T	3: 123,087,880 (GRCm39)	Q247L	probably damaging	Het
Spmap2l	A	G	5: 77,203,928 (GRCm39)	T319A	probably benign	Het
Spns3	G	T	11: 72,427,373 (GRCm39)	Q306K	possibly damaging	Het
Sstr1	T	C	12: 58,259,941 (GRCm39)	V188A	possibly damaging	Het
Supt5	A	T	7: 28,014,805 (GRCm39)	L1024Q	probably damaging	Het
Tent4b	CCCAACAACGCCAACAA	CCCAACAA	8: 88,981,878 (GRCm39)		probably benign	Het
Unc13b	T	A	4: 43,237,836 (GRCm39)	H3452Q	probably benign	Het
Usp28	A	G	9: 48,949,073 (GRCm39)	Q864R	probably benign	Het
Vmn2r43	T	C	7: 8,247,806 (GRCm39)	T786A	probably damaging	Het
Yy1	TCACCACCACCACCACCACCACCACCACC	TCACCACCACCACCACCACCACCACCACCACC	12: 108,759,557 (GRCm39)		probably benign	Het

Other mutations in Ap3s2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Ap3s2	APN	7	79,565,824 (GRCm39)	missense	probably benign	0.35
G1patch:Ap3s2	UTSW	7	79,570,390 (GRCm39)	unclassified	probably benign
R0138:Ap3s2	UTSW	7	79,559,617 (GRCm39)	missense	probably benign	0.28
R0909:Ap3s2	UTSW	7	79,530,266 (GRCm39)	missense	probably benign	0.01
R1711:Ap3s2	UTSW	7	79,530,238 (GRCm39)	missense	probably damaging	0.98
R4909:Ap3s2	UTSW	7	79,564,989 (GRCm39)	missense	possibly damaging	0.90
R5528:Ap3s2	UTSW	7	79,530,234 (GRCm39)	makesense	probably null
R5630:Ap3s2	UTSW	7	79,559,647 (GRCm39)	missense	probably damaging	1.00
R6725:Ap3s2	UTSW	7	79,570,390 (GRCm39)	unclassified	probably benign
R7473:Ap3s2	UTSW	7	79,565,779 (GRCm39)	missense	probably damaging	1.00
R8914:Ap3s2	UTSW	7	79,564,911 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACACTGTGTACTGAGTCTGTCC -3'
(R):5'- GGGTACCGAGACTAAGTTTCCG -3'

Sequencing Primer
(F):5'- GTGTACTGAGTCTGTCCCTAAGAC -3'
(R):5'- ACTAAGTTTCCGGGAGCAGC -3'

Posted On

2016-06-15