Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00585:Ap3s2'

5220

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ap3s2

Ensembl Gene

ENSMUSG00000063801

Gene Name

adaptor-related protein complex 3, sigma 2 subunit

Synonyms

sigma 3B, [s]3B

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00585

Quality Score

Status

Chromosome

Chromosomal Location

79525073-79570388 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79565824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 34 (E34G)

Ref Sequence

ENSEMBL: ENSMUSP00000075082 (fasta)

Gene Model

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

AlphaFold

Q8BSZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000075657
AA Change: E34G

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000075082
Gene: ENSMUSG00000063801
AA Change: E34G

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

probably benign
Transcript: ENSMUST00000206725

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	A	17: 24,519,294 (GRCm39)	I664F	probably damaging	Het
Abcg4	A	T	9: 44,192,920 (GRCm39)	M142K	probably benign	Het
Afdn	A	G	17: 14,104,890 (GRCm39)	T1198A	probably damaging	Het
Angptl2	T	C	2: 33,136,239 (GRCm39)	S475P	probably damaging	Het
C1qtnf9	T	C	14: 61,017,442 (GRCm39)	F324S	probably damaging	Het
Cacng7	A	G	7: 3,414,547 (GRCm39)	Y170C	probably damaging	Het
Ceacam18	G	A	7: 43,286,435 (GRCm39)	V103M	possibly damaging	Het
Chrnb1	G	A	11: 69,684,742 (GRCm39)	P144S	probably damaging	Het
Chuk	T	C	19: 44,066,751 (GRCm39)	H652R	probably damaging	Het
Ckap5	C	T	2: 91,450,170 (GRCm39)	L1948F	probably damaging	Het
Clstn1	A	T	4: 149,722,769 (GRCm39)	H469L	probably benign	Het
Csf2rb2	C	T	15: 78,169,047 (GRCm39)	G594S	possibly damaging	Het
Ctsq	A	T	13: 61,184,941 (GRCm39)	D248E	probably benign	Het
Ep400	A	T	5: 110,903,771 (GRCm39)	I276K	possibly damaging	Het
Gbf1	G	A	19: 46,272,688 (GRCm39)		probably null	Het
Gldn	T	A	9: 54,245,748 (GRCm39)	I433N	probably damaging	Het
Gm136	T	A	4: 34,752,322 (GRCm39)	E69V	probably damaging	Het
Gm28177	T	C	1: 52,121,738 (GRCm39)		probably null	Het
Gtf2h2	A	G	13: 100,617,506 (GRCm39)		probably benign	Het
Ints12	T	C	3: 132,806,570 (GRCm39)		probably null	Het
Ltbp4	T	C	7: 27,026,158 (GRCm39)	D615G	probably damaging	Het
Mgme1	C	T	2: 144,113,909 (GRCm39)	P4S	probably benign	Het
Nae1	A	G	8: 105,252,910 (GRCm39)		probably null	Het
Nup133	G	A	8: 124,636,733 (GRCm39)	A956V	probably damaging	Het
Oacyl	T	A	18: 65,882,711 (GRCm39)	M529K	possibly damaging	Het
Osbpl1a	T	A	18: 12,890,683 (GRCm39)	E519V	possibly damaging	Het
Pacs1	A	T	19: 5,203,726 (GRCm39)	V333E	probably damaging	Het
Pik3c3	T	G	18: 30,436,131 (GRCm39)		probably benign	Het
Polh	C	T	17: 46,483,169 (GRCm39)		probably benign	Het
Ppp6r3	A	G	19: 3,540,826 (GRCm39)	C431R	probably damaging	Het
Pprc1	T	C	19: 46,051,087 (GRCm39)	S206P	possibly damaging	Het
Rab20	A	G	8: 11,504,212 (GRCm39)	Y163H	probably benign	Het
Sde2	T	A	1: 180,683,383 (GRCm39)	C46S	possibly damaging	Het
Serpinb1c	T	C	13: 33,067,958 (GRCm39)	K213E	probably damaging	Het
Spata20	T	G	11: 94,369,943 (GRCm39)	L784F	probably damaging	Het
Tnnt1	A	C	7: 4,510,549 (GRCm39)	M224R	possibly damaging	Het
Trank1	T	C	9: 111,178,358 (GRCm39)	F349L	possibly damaging	Het
Ttf1	T	C	2: 28,963,895 (GRCm39)		probably benign	Het
Usp54	T	A	14: 20,623,905 (GRCm39)	S651C	probably damaging	Het
Vps45	A	G	3: 95,907,378 (GRCm39)	*571R	probably null	Het
Yod1	G	A	1: 130,646,870 (GRCm39)	G249E	probably damaging	Het
Ythdc2	A	G	18: 44,997,428 (GRCm39)	Y340C	probably damaging	Het
Zfp366	G	A	13: 99,383,080 (GRCm39)		probably benign	Het
Zfp648	T	A	1: 154,079,935 (GRCm39)	D31E	possibly damaging	Het

Other mutations in Ap3s2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-04-20