Mutagenetix > Incidental Mutation

Incidental Mutation 'R5528:Ap3s2'

433529

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

043086-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5528 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79525073-79570388 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to T at 79530234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 194 (*194R)

Ref Sequence

ENSEMBL: ENSMUSP00000075082 (fasta)

Gene Model

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

AlphaFold

Q8BSZ2

Predicted Effect

probably null
Transcript: ENSMUST00000075657
AA Change: *194R

SMART Domains

Protein: ENSMUSP00000075082
Gene: ENSMUSG00000063801
AA Change: *194R

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: 98.6%
3x: 97.4%
10x: 95.4%
20x: 91.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,772,260 (GRCm39)	L483P	probably benign	Het
4930519G04Rik	T	G	5: 115,012,415 (GRCm39)		probably null	Het
Ablim2	C	T	5: 36,013,510 (GRCm39)	Q148*	probably null	Het
Arpp21	C	T	9: 111,978,421 (GRCm39)	A235T	probably benign	Het
C9orf72	T	C	4: 35,213,556 (GRCm39)	D198G	probably benign	Het
Ccdc33	T	C	9: 57,936,078 (GRCm39)	D939G	probably benign	Het
Celsr2	A	T	3: 108,320,610 (GRCm39)	I734N	probably damaging	Het
Clcn1	C	A	6: 42,277,275 (GRCm39)	N455K	probably benign	Het
Cpne8	C	T	15: 90,503,893 (GRCm39)	V91I	possibly damaging	Het
Cstdc7	A	G	18: 42,306,727 (GRCm39)		probably null	Het
Ddx1	A	G	12: 13,279,295 (GRCm39)	V448A	probably damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Eeig1	G	A	2: 32,456,339 (GRCm39)	A334T	probably damaging	Het
Eif2a	G	T	3: 58,455,933 (GRCm39)	D311Y	probably damaging	Het
Eif2ak4	G	A	2: 118,258,419 (GRCm39)	E512K	probably damaging	Het
Esp15	A	T	17: 39,955,640 (GRCm39)	Y69F	probably benign	Het
Gucy1a1	A	T	3: 82,016,380 (GRCm39)	Y203N	probably damaging	Het
Hook3	T	C	8: 26,562,321 (GRCm39)	Q248R	probably damaging	Het
Ifit2	T	A	19: 34,550,937 (GRCm39)	V159E	possibly damaging	Het
Il17rd	T	C	14: 26,810,024 (GRCm39)	V20A	possibly damaging	Het
Kcnq3	T	A	15: 65,897,027 (GRCm39)	D291V	probably damaging	Het
Klf11	A	T	12: 24,704,929 (GRCm39)	M111L	probably benign	Het
Lama5	T	A	2: 179,836,356 (GRCm39)	H1165L	probably benign	Het
Lmo7	A	G	14: 102,139,522 (GRCm39)	N702S	probably damaging	Het
Lta4h	T	C	10: 93,307,736 (GRCm39)	V323A	probably damaging	Het
Mkrn3	T	C	7: 62,068,735 (GRCm39)	E352G	possibly damaging	Het
Ms4a19	T	C	19: 11,118,999 (GRCm39)	S37G	possibly damaging	Het
Mtf2	T	A	5: 108,242,023 (GRCm39)	L277Q	probably damaging	Het
Myo9b	A	G	8: 71,775,918 (GRCm39)	N370D	probably benign	Het
Nlrp4e	A	C	7: 23,036,316 (GRCm39)	K723T	probably benign	Het
Nsun3	A	G	16: 62,555,689 (GRCm39)	V279A	possibly damaging	Het
Pde6b	A	G	5: 108,571,424 (GRCm39)	D459G	probably benign	Het
Phgdh	T	C	3: 98,235,655 (GRCm39)	I121V	probably benign	Het
Pik3r5	T	C	11: 68,386,803 (GRCm39)	C811R	probably damaging	Het
Spaca6	A	C	17: 18,051,344 (GRCm39)	I27L	probably benign	Het
Trmt1l	G	A	1: 151,330,746 (GRCm39)	V588I	probably benign	Het
Tshr	A	G	12: 91,503,967 (GRCm39)	N302D	probably damaging	Het
Vmn2r23	A	G	6: 123,689,961 (GRCm39)	D279G	probably damaging	Het
Wnt3a	T	C	11: 59,166,106 (GRCm39)	N58S	probably damaging	Het
Zkscan8	A	G	13: 21,704,895 (GRCm39)	V276A	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
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'- GCCCTGATGTCTATCACAGC -3'
(R):5'- TGGAATGCTTTAGATCTCTGTCATC -3'

Sequencing Primer
(F):5'- CACAGCCGTGAGTCAGGAG -3'
(R):5'- CTGCTTTAGGATTTAAGCAGACGAC -3'

Posted On

2016-10-06