Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01548:Sorcs3'

93174

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sorcs3

Ensembl Gene

ENSMUSG00000063434

Gene Name

sortilin-related VPS10 domain containing receptor 3

Synonyms

6330404A12Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

IGL01548

Quality Score

Status

Chromosome

Chromosomal Location

48206025-48805505 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48794168 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1041 (I1041F)

Ref Sequence

ENSEMBL: ENSMUSP00000077919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078880]

AlphaFold

Q8VI51

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078880
AA Change: I1041F

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000077919
Gene: ENSMUSG00000063434
AA Change: I1041F

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
low complexity region	46	63	N/A	INTRINSIC
low complexity region	69	91	N/A	INTRINSIC
VPS10	216	818	N/A	SMART
Pfam:PKD	823	901	8e-13	PFAM
transmembrane domain	1122	1141	N/A	INTRINSIC

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 encodes a type-I receptor transmembrane protein that is a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined by a vacuolar protein sorting 10 domain at the N-terminus. The N-terminal segment of this domain has a consensus motif for proprotein convertase processing, and the C-terminal segment of this domain is characterized by ten conserved cysteine residues. The vacuolar protein sorting 10 domain is followed by a leucine-rich segment, a transmembrane domain, and a short C-terminal cytoplasmic domain that interacts with adaptor molecules. The transcript is expressed at high levels in the brain, and candidate gene studies suggest that genetic variation in this gene is associated with Alzheimer's disease. Consistent with this observation, knockdown of the gene in cell culture results in an increase in amyloid precursor protein processing. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit absent NMDA and glutamate receptor-dependent long term depression, impaired spatial learning and memory and impaired fear memory. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	T	C	2: 130,814,259	N110D	probably damaging	Het
Acot3	C	T	12: 84,057,089	T224I	probably benign	Het
Adamts18	C	T	8: 113,764,299	G512E	probably damaging	Het
Atp4b	A	G	8: 13,389,679	I181T	probably damaging	Het
Bcl11a	A	G	11: 24,163,346	I230V	probably benign	Het
Cenpj	C	A	14: 56,532,319	V1138L	probably benign	Het
Cep78	A	G	19: 15,981,200		probably benign	Het
Clec2j	T	A	6: 128,655,978		noncoding transcript	Het
Col5a3	T	C	9: 20,803,000		probably benign	Het
Cpne6	A	T	14: 55,512,726	T105S	probably damaging	Het
Csmd1	A	T	8: 16,288,646	Y482*	probably null	Het
Ctrl	C	A	8: 105,933,258		probably benign	Het
Dhcr24	T	A	4: 106,573,871	C252*	probably null	Het
Dnah17	G	A	11: 118,098,612	P1261S	probably benign	Het
Dnaic2	T	C	11: 114,752,942	L466P	probably damaging	Het
Dync2h1	A	T	9: 7,071,922	F3036Y	probably damaging	Het
Eef1akmt2	A	C	7: 132,831,405	S191A	probably damaging	Het
Fam205c	T	C	4: 42,868,564	E353G	probably benign	Het
Fat4	G	A	3: 39,009,257	C4454Y	probably damaging	Het
Fat4	T	C	3: 38,887,758	S267P	probably damaging	Het
Frrs1	T	C	3: 116,885,185	C219R	probably damaging	Het
Gabra6	T	A	11: 42,317,023	Q207L	probably damaging	Het
Gm19668	A	T	10: 77,798,408	C242*	probably null	Het
Gm2840	G	A	5: 96,174,277		noncoding transcript	Het
Gm6614	A	G	6: 141,992,512	I227T	possibly damaging	Het
Gm8765	A	G	13: 50,700,378	T91A	probably benign	Het
Gmcl1p1	G	A	X: 3,078,226	G423S	probably benign	Het
Golim4	C	T	3: 75,908,125		probably null	Het
Gucy1b1	G	T	3: 82,034,862	T530K	probably damaging	Het
Hacl1	A	T	14: 31,640,596	D31E	possibly damaging	Het
Hectd4	A	G	5: 121,364,660	T4276A	possibly damaging	Het
Henmt1	T	C	3: 108,942,779	I26T	probably damaging	Het
Hspa1l	G	A	17: 34,978,391	A469T	probably damaging	Het
Htra3	T	A	5: 35,664,076		probably null	Het
Lrrc28	C	A	7: 67,628,294		probably null	Het
Mfhas1	T	C	8: 35,590,459	L696P	probably damaging	Het
Mios	A	G	6: 8,234,252	K808E	possibly damaging	Het
Mtnr1b	A	G	9: 15,863,200	Y188H	probably damaging	Het
Myom1	A	G	17: 71,101,220		probably benign	Het
Naca	A	T	10: 128,040,904		probably benign	Het
Nckap1l	T	A	15: 103,462,720	V213D	probably benign	Het
Ndufa6	C	T	15: 82,354,081	V50M	possibly damaging	Het
Olfr1000	A	G	2: 85,608,761	W50R	probably benign	Het
Olfr1055	T	A	2: 86,347,733	Y11F	possibly damaging	Het
Olfr1260	T	A	2: 89,978,539	F254I	possibly damaging	Het
Olfr1465	A	G	19: 13,313,986	F100L	possibly damaging	Het
Olfr923	A	G	9: 38,828,350	T220A	probably benign	Het
Osbpl1a	T	C	18: 12,763,575	Y311C	probably damaging	Het
Parp11	A	C	6: 127,491,599	Y204S	probably damaging	Het
Pla2g4a	A	G	1: 149,932,656		probably null	Het
Plec	T	C	15: 76,189,258	R519G	probably benign	Het
Ppp2r5c	T	A	12: 110,567,827	Y375N	probably benign	Het
Prss35	C	A	9: 86,755,274	S32R	probably benign	Het
Prss57	C	T	10: 79,785,747		probably benign	Het
Ptprc	A	C	1: 138,099,481		probably null	Het
Rims1	A	G	1: 22,538,602	C188R	probably damaging	Het
Ripk4	G	T	16: 97,751,496	Y144*	probably null	Het
Rpgrip1	A	T	14: 52,126,271		probably benign	Het
Rps6ka4	A	G	19: 6,832,323	V378A	probably benign	Het
Rtf1	A	G	2: 119,712,108	K298E	probably benign	Het
Sdk1	T	C	5: 142,085,765	F1237L	possibly damaging	Het
Slc40a1	T	C	1: 45,909,492	K543E	probably benign	Het
Taok3	T	C	5: 117,272,197	M818T	probably benign	Het
Tas2r119	T	A	15: 32,177,977	F230I	probably damaging	Het
Tbc1d8	T	C	1: 39,381,304	D716G	probably damaging	Het
Tfg	A	G	16: 56,701,102	S58P	probably damaging	Het
Thnsl1	A	G	2: 21,213,132	I45V	probably damaging	Het
Tle1	A	G	4: 72,170,718	L96P	probably damaging	Het
Tmem260	A	C	14: 48,480,325	S276R	possibly damaging	Het
Utp20	A	G	10: 88,764,781	S24P	probably damaging	Het
Vcam1	T	C	3: 116,115,951	I576V	probably benign	Het
Vmn1r27	G	T	6: 58,215,553	N105K	probably benign	Het
Vmn2r12	A	C	5: 109,093,027	Y73*	probably null	Het
Vmn2r86	T	C	10: 130,446,282	I822V	probably benign	Het
Wdr6	C	T	9: 108,574,897	V596I	possibly damaging	Het
Zfp946	A	T	17: 22,454,662	K132N	possibly damaging	Het

Other mutations in Sorcs3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:Sorcs3	APN	19	48683658	critical splice donor site	probably null
IGL00233:Sorcs3	APN	19	48748319	missense	probably benign	0.12
IGL00482:Sorcs3	APN	19	48603864	missense	probably benign	0.00
IGL00976:Sorcs3	APN	19	48767103	missense	probably damaging	1.00
IGL01367:Sorcs3	APN	19	48796375	missense	probably damaging	1.00
IGL01390:Sorcs3	APN	19	48790131	missense	probably damaging	1.00
IGL02162:Sorcs3	APN	19	48535531	missense	probably damaging	0.98
IGL02165:Sorcs3	APN	19	48654072	missense	probably benign	0.03
IGL02404:Sorcs3	APN	19	48704370	splice site	probably benign
IGL02830:Sorcs3	APN	19	48723002	splice site	probably null
IGL02943:Sorcs3	APN	19	48759938	missense	probably benign	0.00
R0371:Sorcs3	UTSW	19	48603894	missense	probably benign	0.00
R0456:Sorcs3	UTSW	19	48654044	missense	possibly damaging	0.94
R0466:Sorcs3	UTSW	19	48748319	missense	probably benign	0.12
R0470:Sorcs3	UTSW	19	48797517	critical splice donor site	probably null
R0536:Sorcs3	UTSW	19	48802698	nonsense	probably null
R0646:Sorcs3	UTSW	19	48206295	missense	probably benign	0.10
R0709:Sorcs3	UTSW	19	48487406	missense	probably benign
R0792:Sorcs3	UTSW	19	48706009	missense	possibly damaging	0.84
R0831:Sorcs3	UTSW	19	48693994	missense	probably damaging	1.00
R0836:Sorcs3	UTSW	19	48487394	missense	probably benign
R1253:Sorcs3	UTSW	19	48206736	missense	possibly damaging	0.67
R1390:Sorcs3	UTSW	19	48694001	critical splice donor site	probably null
R1522:Sorcs3	UTSW	19	48706009	missense	possibly damaging	0.84
R1570:Sorcs3	UTSW	19	48764181	missense	probably damaging	1.00
R1637:Sorcs3	UTSW	19	48748359	critical splice donor site	probably null
R1766:Sorcs3	UTSW	19	48603875	missense	possibly damaging	0.87
R1894:Sorcs3	UTSW	19	48794274	missense	probably benign	0.23
R2426:Sorcs3	UTSW	19	48722925	missense	probably damaging	1.00
R3789:Sorcs3	UTSW	19	48398711	missense	possibly damaging	0.46
R3818:Sorcs3	UTSW	19	48603904	missense	probably benign	0.00
R3824:Sorcs3	UTSW	19	48722956	missense	probably damaging	1.00
R3934:Sorcs3	UTSW	19	48713504	missense	probably damaging	1.00
R3936:Sorcs3	UTSW	19	48713504	missense	probably damaging	1.00
R4190:Sorcs3	UTSW	19	48749373	missense	possibly damaging	0.69
R4604:Sorcs3	UTSW	19	48693914	missense	probably benign	0.35
R4644:Sorcs3	UTSW	19	48683597	missense	probably damaging	1.00
R4774:Sorcs3	UTSW	19	48794163	missense	probably benign	0.23
R4801:Sorcs3	UTSW	19	48398744	missense	possibly damaging	0.46
R4802:Sorcs3	UTSW	19	48398744	missense	possibly damaging	0.46
R4945:Sorcs3	UTSW	19	48764148	missense	possibly damaging	0.50
R5049:Sorcs3	UTSW	19	48759951	missense	possibly damaging	0.93
R5175:Sorcs3	UTSW	19	48759845	critical splice acceptor site	probably null
R5342:Sorcs3	UTSW	19	48796472	splice site	probably null
R5848:Sorcs3	UTSW	19	48788511	missense	probably damaging	1.00
R5959:Sorcs3	UTSW	19	48749396	missense	probably damaging	1.00
R5977:Sorcs3	UTSW	19	48796450	missense	probably damaging	1.00
R6155:Sorcs3	UTSW	19	48398697	missense	possibly damaging	0.94
R6222:Sorcs3	UTSW	19	48759857	missense	possibly damaging	0.57
R6268:Sorcs3	UTSW	19	48790166	missense	probably damaging	1.00
R6416:Sorcs3	UTSW	19	48802759	missense	probably damaging	1.00
R6425:Sorcs3	UTSW	19	48764307	critical splice donor site	probably null
R6623:Sorcs3	UTSW	19	48788505	missense	probably benign	0.00
R6767:Sorcs3	UTSW	19	48713571	missense	probably damaging	0.99
R6888:Sorcs3	UTSW	19	48693824	missense	possibly damaging	0.83
R6955:Sorcs3	UTSW	19	48749343	missense	possibly damaging	0.82
R7106:Sorcs3	UTSW	19	48705963	missense	probably damaging	1.00
R7379:Sorcs3	UTSW	19	48772266	missense	possibly damaging	0.69
R7953:Sorcs3	UTSW	19	48764295	missense	possibly damaging	0.84
R8043:Sorcs3	UTSW	19	48764295	missense	possibly damaging	0.84
R8242:Sorcs3	UTSW	19	48206474	missense	possibly damaging	0.53
R8343:Sorcs3	UTSW	19	48704369	splice site	probably null
R8433:Sorcs3	UTSW	19	48206474	missense	possibly damaging	0.53
R8435:Sorcs3	UTSW	19	48206474	missense	possibly damaging	0.53
R8436:Sorcs3	UTSW	19	48206474	missense	possibly damaging	0.53
R8940:Sorcs3	UTSW	19	48796469	critical splice donor site	probably null
R8956:Sorcs3	UTSW	19	48749371	nonsense	probably null
R9051:Sorcs3	UTSW	19	48206370	missense	probably benign
R9119:Sorcs3	UTSW	19	48653994	missense	possibly damaging	0.92
R9166:Sorcs3	UTSW	19	48796372	missense	probably benign	0.01
R9328:Sorcs3	UTSW	19	48797511	missense	probably damaging	1.00
R9489:Sorcs3	UTSW	19	48722925	missense	probably damaging	1.00
R9605:Sorcs3	UTSW	19	48722925	missense	probably damaging	1.00
R9757:Sorcs3	UTSW	19	48722924	missense	probably damaging	1.00
X0018:Sorcs3	UTSW	19	48772289	missense	probably damaging	1.00
Z1176:Sorcs3	UTSW	19	48645804	missense	probably damaging	1.00
Z1177:Sorcs3	UTSW	19	48704300	missense	probably damaging	1.00

Posted On

2013-12-09