Mutagenetix > Incidental Mutation

Incidental Mutation 'R6923:Scamp2'

539741

Institutional Source

Beutler Lab

Gene Symbol

Scamp2

Ensembl Gene

ENSMUSG00000040188

Gene Name

secretory carrier membrane protein 2

Synonyms

Sc2

MMRRC Submission

045381-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6923 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57468226-57496078 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 57488895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 199 (F199V)

Ref Sequence

ENSEMBL: ENSMUSP00000038350 (fasta)

Gene Model

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

AlphaFold

Q9ERN0

Predicted Effect

probably damaging
Transcript: ENSMUST00000045791
AA Change: F199V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038350
Gene: ENSMUSG00000040188
AA Change: F199V

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: ENSMUST00000215942

Predicted Effect

probably benign
Transcript: ENSMUST00000216986

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.4%

Validation Efficiency

100% (59/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Albfm1	A	G	5: 90,725,652 (GRCm39)	N288S	probably benign	Het
Ap4b1	T	A	3: 103,719,530 (GRCm39)	D81E	probably benign	Het
Atg16l1	A	T	1: 87,702,078 (GRCm39)		probably null	Het
Atp11a	A	G	8: 12,906,949 (GRCm39)	T459A	probably damaging	Het
Bloc1s5	T	A	13: 38,815,040 (GRCm39)	I40F	probably damaging	Het
Bltp2	T	A	11: 78,165,452 (GRCm39)	S1323T	possibly damaging	Het
Capn5	T	A	7: 97,778,461 (GRCm39)	Q386L	probably damaging	Het
Cbfa2t2	C	T	2: 154,376,903 (GRCm39)	H529Y	probably damaging	Het
Cd3d	T	C	9: 44,897,157 (GRCm39)		probably benign	Het
Cenpa	A	G	5: 30,829,806 (GRCm39)		probably null	Het
Chit1	A	T	1: 134,077,163 (GRCm39)	Y322F	probably null	Het
Cntnap5c	T	A	17: 58,399,345 (GRCm39)	N399K	possibly damaging	Het
Dock8	A	T	19: 25,072,970 (GRCm39)	T417S	probably benign	Het
Firrm	A	G	1: 163,814,454 (GRCm39)		probably null	Het
Fkbp2	A	G	19: 6,956,537 (GRCm39)			Het
Fsip1	G	A	2: 118,080,394 (GRCm39)	R121C	probably benign	Het
Gbp2b	T	C	3: 142,306,320 (GRCm39)	I131T	probably benign	Het
Gm12695	T	C	4: 96,658,053 (GRCm39)	N39D	probably benign	Het
Gm4922	T	C	10: 18,659,616 (GRCm39)	R369G	probably damaging	Het
Gpatch3	C	T	4: 133,309,836 (GRCm39)	L390F	probably damaging	Het
Gpd2	G	A	2: 57,245,800 (GRCm39)	M443I	probably damaging	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Hdac1-ps	A	G	17: 78,800,343 (GRCm39)	T445A	possibly damaging	Het
Jph3	A	G	8: 122,480,110 (GRCm39)	T263A	possibly damaging	Het
Me3	C	A	7: 89,495,093 (GRCm39)	A337E	probably damaging	Het
Mndal	A	C	1: 173,712,264 (GRCm39)		probably null	Het
Msantd5l	C	T	11: 51,144,808 (GRCm39)	D158N	probably damaging	Het
Muc6	C	T	7: 141,217,453 (GRCm39)	E2342K	possibly damaging	Het
Neb	A	G	2: 52,076,076 (GRCm39)	V5659A	probably damaging	Het
Nkapd1	T	A	9: 50,521,610 (GRCm39)	I104L	probably benign	Het
Nrxn1	G	A	17: 91,395,661 (GRCm39)	A165V	probably benign	Het
Or5b94	T	A	19: 12,652,409 (GRCm39)	I280N	possibly damaging	Het
Or5b97	T	C	19: 12,878,676 (GRCm39)	N156S	probably benign	Het
Orc2	A	G	1: 58,539,534 (GRCm39)	L35S	probably benign	Het
Pax4	A	G	6: 28,447,118 (GRCm39)		probably null	Het
Pcdhb7	C	T	18: 37,475,522 (GRCm39)		probably null	Het
Pla2r1	C	T	2: 60,345,310 (GRCm39)	E349K	probably benign	Het
Polr2a	C	T	11: 69,626,787 (GRCm39)	A1516T	probably benign	Het
Pramel23	A	T	4: 143,425,676 (GRCm39)	I89N	probably benign	Het
Prpf38a	G	T	4: 108,427,401 (GRCm39)	D187E	possibly damaging	Het
Rdh16f1	T	A	10: 127,624,737 (GRCm39)		probably null	Het
S100z	T	A	13: 95,615,090 (GRCm39)	D25V	probably damaging	Het
Semp2l2b	C	A	10: 21,943,654 (GRCm39)	G109C	probably damaging	Het
Senp2	T	G	16: 21,830,326 (GRCm39)		probably benign	Het
Sltm	T	A	9: 70,481,892 (GRCm39)	S365T	probably damaging	Het
Smg6	C	G	11: 74,820,169 (GRCm39)	P147A	possibly damaging	Het
Spem2	T	A	11: 69,708,603 (GRCm39)	R121W	probably damaging	Het
Sufu	A	G	19: 46,439,405 (GRCm39)		probably null	Het
Syt2	T	C	1: 134,674,501 (GRCm39)	V313A	possibly damaging	Het
Tet2	C	T	3: 133,185,102 (GRCm39)		probably null	Het
Tfeb	T	A	17: 48,097,908 (GRCm39)	I232N	probably benign	Het
Ticrr	T	G	7: 79,341,601 (GRCm39)	I1062M	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vrk2	G	A	11: 26,439,893 (GRCm39)	A226V	probably damaging	Het
Wnk1	A	T	6: 119,942,639 (GRCm39)		probably benign	Het
Xpo4	G	T	14: 57,841,168 (GRCm39)	T505K	probably benign	Het
Yy1	A	T	12: 108,759,594 (GRCm39)	I86F	probably benign	Het
Zc3h15	A	G	2: 83,487,400 (GRCm39)	D73G	possibly 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
R7123:Scamp2	UTSW	9	57,494,385 (GRCm39)	missense	probably benign	0.02
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'- TCCTAGGGAGTAGCTTGCTCTG -3'
(R):5'- AAACGGCCCTTAATTTGTCTGC -3'

Sequencing Primer
(F):5'- TCTGTGGGCAGCCAATCCTC -3'
(R):5'- GTCTGCTCCGAGTTGAGAAG -3'

Posted On

2018-11-06