Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02982:Scamp2'

406596

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scamp2

Ensembl Gene

ENSMUSG00000040188

Gene Name

secretory carrier membrane protein 2

Synonyms

Sc2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02982

Quality Score

Status

Chromosome

Chromosomal Location

57560943-57588795 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 57581549 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 178 (A178T)

Ref Sequence

ENSEMBL: ENSMUSP00000038350 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045791] [ENSMUST00000215942] [ENSMUST00000216986]

Predicted Effect

probably benign
Transcript: ENSMUST00000045791
AA Change: A178T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038350
Gene: ENSMUSG00000040188
AA Change: A178T

Domain	Start	End	E-Value	Type
low complexity region	69	83	N/A	INTRINSIC
low complexity region	94	106	N/A	INTRINSIC
Pfam:SCAMP	117	293	2.6e-68	PFAM
low complexity region	309	328	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213662

Predicted Effect

probably benign
Transcript: ENSMUST00000215942

Predicted Effect

probably benign
Transcript: ENSMUST00000216986

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217200

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the SCAMP family of proteins which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-golgi recycling pathways. Different family members are highly related products of distinct genes, and are usually expressed together. These findings suggest that the SCAMPs may function at the same site during vesicular transport rather than in separate pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	G	T	8: 24,804,431	A384D	probably benign	Het
Adamts19	T	A	18: 59,024,518	C961S	probably damaging	Het
Agbl2	G	A	2: 90,805,815	C565Y	probably damaging	Het
Aox3	G	A	1: 58,127,687	E190K	probably benign	Het
Arf2	T	G	11: 103,981,776	D74E	probably damaging	Het
Bptf	T	G	11: 107,076,674	D960A	probably damaging	Het
Ccdc180	G	T	4: 45,903,840		probably benign	Het
Ces1a	A	G	8: 93,044,975	F65L	probably damaging	Het
Def8	T	C	8: 123,456,539		probably benign	Het
Fat4	T	C	3: 38,890,843	L1295P	probably damaging	Het
Filip1l	A	G	16: 57,572,232	H1061R	probably damaging	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gldc	A	G	19: 30,145,145		probably null	Het
Gm597	T	C	1: 28,778,054	H299R	probably damaging	Het
Golgb1	A	C	16: 36,925,810	D2917A	probably damaging	Het
Gpc5	G	A	14: 115,369,988	C334Y	probably damaging	Het
Gpsm1	T	A	2: 26,324,859	L252Q	probably damaging	Het
Iars	C	T	13: 49,709,709	R546C	probably benign	Het
Kbtbd8	G	T	6: 95,126,566	V399L	probably benign	Het
Kcnd2	A	T	6: 21,217,149	D284V	probably damaging	Het
Kcnj6	T	C	16: 94,832,517	K227R	possibly damaging	Het
Lhx9	A	T	1: 138,838,611	H155Q	probably damaging	Het
Mcm9	A	G	10: 53,625,826	V221A	probably damaging	Het
Myo9a	A	T	9: 59,908,208	K2237*	probably null	Het
Ntf3	A	T	6: 126,102,377	D55E	probably damaging	Het
Olfr1229	G	T	2: 89,283,109	T29K	probably damaging	Het
Olfr61	A	T	7: 140,637,952	I84F	probably benign	Het
Plek	T	A	11: 16,981,826	I342F	probably damaging	Het
Polrmt	A	G	10: 79,738,348	Y853H	probably damaging	Het
Psg29	A	G	7: 17,211,707	T401A	probably damaging	Het
Ptprb	A	G	10: 116,322,628	T822A	probably benign	Het
Ptprq	A	C	10: 107,586,684	F1616V	probably damaging	Het
Rpe65	T	A	3: 159,600,361	V19E	probably damaging	Het
Spta1	A	G	1: 174,187,288	I445V	probably benign	Het
Tas2r135	A	G	6: 42,406,253	E242G	probably benign	Het
Ttc22	T	C	4: 106,638,586	V379A	probably damaging	Het
Unc5d	C	T	8: 28,652,853	G857E	probably damaging	Het
Usp28	A	G	9: 49,018,439	I43V	probably benign	Het
Vmn2r68	A	T	7: 85,234,441	M152K	probably benign	Het
Wrn	C	T	8: 33,343,066	G133R	probably damaging	Het
Zfyve26	G	A	12: 79,263,870	T187M	probably damaging	Het
Zic2	A	G	14: 122,478,567	E367G	probably damaging	Het

Other mutations in Scamp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01817:Scamp2	APN	9	57581620	nonsense	probably null
IGL01932:Scamp2	APN	9	57561116	splice site	probably benign
IGL02661:Scamp2	APN	9	57587414	unclassified	probably benign
IGL03081:Scamp2	APN	9	57587127	missense	possibly damaging	0.54
IGL03299:Scamp2	APN	9	57577740	splice site	probably null
PIT4280001:Scamp2	UTSW	9	57580793	missense	probably damaging	1.00
R1114:Scamp2	UTSW	9	57581580	missense	probably damaging	1.00
R2403:Scamp2	UTSW	9	57577712	missense	possibly damaging	0.91
R4062:Scamp2	UTSW	9	57577262	critical splice donor site	probably null
R4573:Scamp2	UTSW	9	57577194	missense	probably damaging	1.00
R4859:Scamp2	UTSW	9	57581651	critical splice donor site	probably null
R5449:Scamp2	UTSW	9	57580871	missense	probably damaging	1.00
R6923:Scamp2	UTSW	9	57581612	missense	probably damaging	0.99
R7123:Scamp2	UTSW	9	57587102	missense	probably benign	0.02

Posted On

2016-08-02