Mutagenetix > Incidental Mutation

Incidental Mutation 'R5630:Ap3s2'

442053

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

043281-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5630 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79525073-79570388 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79559647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 94 (V94E)

Ref Sequence

ENSEMBL: ENSMUSP00000075082 (fasta)

Gene Model

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

AlphaFold

Q8BSZ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000075657
AA Change: V94E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000075082
Gene: ENSMUSG00000063801
AA Change: V94E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206725

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aven	T	A	2: 112,344,890 (GRCm39)	Y109*	probably null	Het
Cad	T	C	5: 31,217,917 (GRCm39)	S401P	probably damaging	Het
Ccdc122	A	T	14: 77,330,216 (GRCm39)	I189F	probably damaging	Het
Cdkal1	A	T	13: 29,961,198 (GRCm39)		probably null	Het
Clock	G	A	5: 76,378,185 (GRCm39)	P572S	probably benign	Het
Cnih4	C	G	1: 180,989,748 (GRCm39)	F120L	probably benign	Het
Cntnap5b	A	G	1: 99,999,794 (GRCm39)	D184G	probably damaging	Het
Cpa2	T	A	6: 30,550,731 (GRCm39)		probably null	Het
Cpne5	T	C	17: 29,445,190 (GRCm39)	D38G	probably damaging	Het
Dst	GGAATCGTGCACTCGAA	GGAA	1: 34,227,866 (GRCm39)		probably null	Het
E330034G19Rik	A	G	14: 24,358,336 (GRCm39)		probably benign	Het
Flrt1	A	T	19: 7,073,830 (GRCm39)	I239N	probably damaging	Het
Foxb1	T	A	9: 69,667,402 (GRCm39)	I43F	probably damaging	Het
Kcnq3	A	G	15: 65,896,971 (GRCm39)	W310R	probably damaging	Het
Klrb1a	A	T	6: 128,595,573 (GRCm39)	D60E	probably benign	Het
Lbr	A	G	1: 181,644,529 (GRCm39)		probably null	Het
Lsm8	T	A	6: 18,851,672 (GRCm39)	I41N	probably damaging	Het
Mroh7	T	C	4: 106,577,764 (GRCm39)	M305V	possibly damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Or5p4	T	A	7: 107,680,323 (GRCm39)	F107L	probably benign	Het
Or8c10	T	C	9: 38,279,402 (GRCm39)	Y177H	probably damaging	Het
Or8g20	T	A	9: 39,396,247 (GRCm39)	M98L	probably benign	Het
Pcdhb5	A	T	18: 37,454,208 (GRCm39)	D196V	possibly damaging	Het
Pcmt1	A	G	10: 7,524,857 (GRCm39)	Y84H	probably damaging	Het
Pcnx2	A	T	8: 126,587,697 (GRCm39)	I877K	probably damaging	Het
Pcsk5	A	G	19: 17,553,195 (GRCm39)	Y662H	probably benign	Het
Prdx1	T	A	4: 116,556,414 (GRCm39)	D187E	probably benign	Het
Ranbp2	T	G	10: 58,314,898 (GRCm39)	Y1873D	probably damaging	Het
Rcor2	A	T	19: 7,248,416 (GRCm39)	R144W	probably damaging	Het
Rptor	T	G	11: 119,647,075 (GRCm39)	I222S	probably benign	Het
Rrp8	C	A	7: 105,382,608 (GRCm39)	R448L	possibly damaging	Het
Ryr2	A	T	13: 11,616,691 (GRCm39)	I3909N	probably damaging	Het
Scn2a	T	G	2: 65,556,709 (GRCm39)	V1147G	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Smox	C	T	2: 131,366,786 (GRCm39)	Q582*	probably null	Het
Sqor	T	A	2: 122,651,277 (GRCm39)	L180H	possibly damaging	Het
Stox2	T	C	8: 47,644,925 (GRCm39)	D845G	probably damaging	Het
Szt2	T	C	4: 118,250,102 (GRCm39)	I469V	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tox	C	CTGGAGT	4: 6,688,835 (GRCm39)		probably benign	Het
Trgc2	A	G	13: 19,489,279 (GRCm39)	F151S	possibly damaging	Het
Upf2	T	C	2: 6,032,112 (GRCm39)	V141A	probably damaging	Het
Usp54	A	G	14: 20,615,125 (GRCm39)	L772P	probably damaging	Het
Vmn2r83	A	T	10: 79,327,785 (GRCm39)	T798S	possibly damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Zfp143	C	T	7: 109,687,980 (GRCm39)	T473I	probably damaging	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
R5041:Ap3s2	UTSW	7	79,570,267 (GRCm39)	missense	probably benign	0.07
R5528:Ap3s2	UTSW	7	79,530,234 (GRCm39)	makesense	probably null
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'- ACAGACTCTTGAACTAGGTTGG -3'
(R):5'- TGCTGGGATTAAAGGTGTGCAC -3'

Sequencing Primer
(F):5'- GAACAAAAGAGCAAGTGAGAGAACC -3'
(R):5'- TTAAAGTGTTGGAGAAATGGTTCAG -3'

Posted On

2016-11-08