Mutagenetix > Incidental Mutation

Incidental Mutation 'R7123:Scamp2'

552148

Institutional Source

Beutler Lab

Gene Symbol

Scamp2

Ensembl Gene

ENSMUSG00000040188

Gene Name

secretory carrier membrane protein 2

Synonyms

Sc2

MMRRC Submission

045211-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7123 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57468226-57496078 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57494385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 253 (T253S)

Ref Sequence

ENSEMBL: ENSMUSP00000038350 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045791] [ENSMUST00000053230] [ENSMUST00000215748]

AlphaFold

Q9ERN0

Predicted Effect

probably benign
Transcript: ENSMUST00000045791
AA Change: T253S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000038350
Gene: ENSMUSG00000040188
AA Change: T253S

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

probably benign
Transcript: ENSMUST00000053230

SMART Domains

Protein: ENSMUSP00000059947
Gene: ENSMUSG00000032308

Domain	Start	End	E-Value	Type
S_TKc	14	270	4.74e-98	SMART
MIT	277	354	1.1e-10	SMART
MIT	372	450	2.96e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000215748

Meta Mutation Damage Score

0.1340

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (52/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,484,949 (GRCm39)	I1521T	probably damaging	Het
Adgrv1	A	T	13: 81,740,693 (GRCm39)	I145N	probably damaging	Het
Ago3	C	A	4: 126,248,798 (GRCm39)		probably null	Het
Agrn	A	T	4: 156,257,297 (GRCm39)	W1178R	probably benign	Het
Akap3	A	T	6: 126,843,267 (GRCm39)	I629L	probably benign	Het
Aknad1	T	G	3: 108,682,560 (GRCm39)	Y545*	probably null	Het
Anapc1	C	A	2: 128,454,930 (GRCm39)	V1925F	probably damaging	Het
Barhl1	C	T	2: 28,799,943 (GRCm39)		probably null	Het
Cfap157	T	C	2: 32,669,413 (GRCm39)	E294G	probably damaging	Het
Cfd	G	A	10: 79,728,331 (GRCm39)	G231S	probably damaging	Het
Csf2ra	A	G	19: 61,215,300 (GRCm39)	V105A	probably damaging	Het
Dhtkd1	A	T	2: 5,922,591 (GRCm39)	W523R	probably damaging	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dnajc22	A	C	15: 98,999,085 (GRCm39)	Y90S	possibly damaging	Het
Ebna1bp2	A	G	4: 118,482,772 (GRCm39)	K254E	probably damaging	Het
Gfpt1	A	T	6: 87,033,168 (GRCm39)	D131V	probably damaging	Het
Gm5460	A	G	14: 33,763,982 (GRCm39)	I21V	unknown	Het
H2-T9	A	G	17: 36,438,686 (GRCm39)	I235T	possibly damaging	Het
Htr1d	C	T	4: 136,169,664 (GRCm39)		probably benign	Het
Kndc1	G	A	7: 139,516,749 (GRCm39)	E1570K	probably damaging	Het
Kntc1	T	C	5: 123,919,789 (GRCm39)	Y887H	probably damaging	Het
Kti12	T	C	4: 108,705,679 (GRCm39)	S198P	probably benign	Het
Mcmdc2	A	T	1: 10,010,643 (GRCm39)	I604F	unknown	Het
Mmp8	A	T	9: 7,563,196 (GRCm39)	D253V	probably damaging	Het
Muc4	T	C	16: 32,569,509 (GRCm39)	S252P	possibly damaging	Het
Myo5c	A	G	9: 75,196,505 (GRCm39)	K1317R	probably benign	Het
Ncoa7	T	C	10: 30,530,435 (GRCm39)	I749V	probably benign	Het
Nfrkb	A	G	9: 31,325,311 (GRCm39)		probably null	Het
Obscn	T	C	11: 58,904,477 (GRCm39)	T7166A	probably benign	Het
Obsl1	A	G	1: 75,466,313 (GRCm39)	S1472P	probably damaging	Het
Or14j7	T	A	17: 38,234,567 (GRCm39)	L37M	probably benign	Het
Or1e20-ps1	T	A	11: 73,324,536 (GRCm39)	D172V	unknown	Het
Orc1	A	C	4: 108,445,884 (GRCm39)	M1L	probably damaging	Het
Pkd1	T	A	17: 24,813,742 (GRCm39)	S4069T	possibly damaging	Het
Pus1	T	C	5: 110,921,798 (GRCm39)	*442W	probably null	Het
Rgma	A	C	7: 73,059,139 (GRCm39)	D97A	probably damaging	Het
Ryr1	T	C	7: 28,746,279 (GRCm39)	K3834E	probably benign	Het
Sars2	T	C	7: 28,452,866 (GRCm39)	V475A	probably benign	Het
Skint9	C	T	4: 112,248,174 (GRCm39)	W190*	probably null	Het
Spata31d1e	G	A	13: 59,891,254 (GRCm39)	Q189*	probably null	Het
Sv2b	C	T	7: 74,767,450 (GRCm39)	V649I	possibly damaging	Het
Synpo2	A	G	3: 122,906,835 (GRCm39)	V827A	probably benign	Het
Tiparp	A	T	3: 65,460,948 (GRCm39)	I646F	probably damaging	Het
Topaz1	G	A	9: 122,577,480 (GRCm39)	G130D	probably damaging	Het
Trio	TACCTTGTTACTGAGCCCTTCTCACCTTCACAGACACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC	TACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC	15: 27,742,399 (GRCm39)		probably benign	Het
Ttll7	C	T	3: 146,619,051 (GRCm39)	P319S	possibly damaging	Het
Umodl1	T	A	17: 31,201,318 (GRCm39)	F416I	possibly damaging	Het
Vmn2r104	T	C	17: 20,261,088 (GRCm39)	D445G	probably benign	Het
Wnk2	A	G	13: 49,235,462 (GRCm39)	V651A	possibly damaging	Het
Zbtb21	C	T	16: 97,751,112 (GRCm39)	S1057N	probably damaging	Het
Zfp451	A	T	1: 33,815,950 (GRCm39)	C667S	probably damaging	Het

Other mutations in Scamp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01817:Scamp2	APN	9	57,488,903 (GRCm39)	nonsense	probably null
IGL01932:Scamp2	APN	9	57,468,399 (GRCm39)	splice site	probably benign
IGL02661:Scamp2	APN	9	57,494,697 (GRCm39)	unclassified	probably benign
IGL02982:Scamp2	APN	9	57,488,832 (GRCm39)	missense	probably benign
IGL03081:Scamp2	APN	9	57,494,410 (GRCm39)	missense	possibly damaging	0.54
IGL03299:Scamp2	APN	9	57,485,023 (GRCm39)	splice site	probably null
PIT4280001:Scamp2	UTSW	9	57,488,076 (GRCm39)	missense	probably damaging	1.00
R1114:Scamp2	UTSW	9	57,488,863 (GRCm39)	missense	probably damaging	1.00
R2403:Scamp2	UTSW	9	57,484,995 (GRCm39)	missense	possibly damaging	0.91
R4062:Scamp2	UTSW	9	57,484,545 (GRCm39)	critical splice donor site	probably null
R4573:Scamp2	UTSW	9	57,484,477 (GRCm39)	missense	probably damaging	1.00
R4859:Scamp2	UTSW	9	57,488,934 (GRCm39)	critical splice donor site	probably null
R5449:Scamp2	UTSW	9	57,488,154 (GRCm39)	missense	probably damaging	1.00
R6923:Scamp2	UTSW	9	57,488,895 (GRCm39)	missense	probably damaging	0.99
R8220:Scamp2	UTSW	9	57,484,953 (GRCm39)	missense	probably benign	0.09
R9734:Scamp2	UTSW	9	57,490,175 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- CTCACAGAGAAAGGTCATTGAACC -3'
(R):5'- CTGCTTACCCATAGCCTTGG -3'

Sequencing Primer
(F):5'- TTGAACCACAAGGCTCCCTGTG -3'
(R):5'- CTTACCCATAGCCTTGGATGAGG -3'

Posted On

2019-05-15