Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00401:Sorcs2'

6443

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sorcs2

Ensembl Gene

ENSMUSG00000029093

Gene Name

sortilin-related VPS10 domain containing receptor 2

Synonyms

VPS10 domain receptor protein

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00401

Quality Score

Status

Chromosome

Chromosomal Location

36174524-36555483 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to A at 36194745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000041828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037370]

AlphaFold

Q9EPR5

Predicted Effect

probably null
Transcript: ENSMUST00000037370

SMART Domains

Protein: ENSMUSP00000041828
Gene: ENSMUSG00000029093

Domain	Start	End	E-Value	Type
signal peptide	1	51	N/A	INTRINSIC
low complexity region	54	64	N/A	INTRINSIC
low complexity region	89	103	N/A	INTRINSIC
low complexity region	106	130	N/A	INTRINSIC
VPS10	170	780	N/A	SMART
PKD	782	872	7.27e-2	SMART
transmembrane domain	1078	1100	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 one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to reduced dopamine levels and dopamine metabolism, dopaminergic hyperinnervation of the frontal cortex, hyperactivity, abnormal behavioral response to amphetamine, and decreased induction of Schwann cell apoptosis following sciatic nerve injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alk	T	A	17: 72,202,743 (GRCm39)	D1164V	probably damaging	Het
Baiap3	T	G	17: 25,463,302 (GRCm39)	L964F	probably damaging	Het
Cacna2d2	T	A	9: 107,392,072 (GRCm39)	V471E	probably damaging	Het
Carmil3	C	T	14: 55,735,755 (GRCm39)	T569M	probably damaging	Het
Dapk2	G	T	9: 66,176,060 (GRCm39)		probably benign	Het
Eps15l1	A	T	8: 73,138,682 (GRCm39)	Y291*	probably null	Het
Fancd2	T	C	6: 113,541,357 (GRCm39)		probably null	Het
Fmnl2	T	G	2: 53,004,929 (GRCm39)	D674E	probably damaging	Het
Foxq1	A	T	13: 31,743,260 (GRCm39)	I121F	probably damaging	Het
Galnt13	C	T	2: 54,406,547 (GRCm39)		probably benign	Het
Git1	T	C	11: 77,389,782 (GRCm39)		probably benign	Het
Gm10220	A	T	5: 26,323,609 (GRCm39)	F146Y	possibly damaging	Het
Gm7353	A	G	7: 3,160,630 (GRCm39)		noncoding transcript	Het
Hspa9	G	A	18: 35,071,633 (GRCm39)		probably benign	Het
Kptn	A	G	7: 15,854,050 (GRCm39)	D56G	possibly damaging	Het
Krtap4-13	A	T	11: 99,700,543 (GRCm39)	C39S	unknown	Het
Lgsn	A	G	1: 31,242,647 (GRCm39)	K243R	possibly damaging	Het
Lyz2	C	T	10: 117,118,090 (GRCm39)	V20I	probably benign	Het
Mettl3	T	A	14: 52,534,424 (GRCm39)		probably benign	Het
Myh6	T	A	14: 55,190,874 (GRCm39)	M934L	probably benign	Het
Nmnat2	A	G	1: 152,969,863 (GRCm39)		probably null	Het
Pias2	T	A	18: 77,220,907 (GRCm39)	C381S	probably damaging	Het
Psme4	T	C	11: 30,771,079 (GRCm39)		probably benign	Het
Smc4	T	A	3: 68,937,712 (GRCm39)	D887E	probably damaging	Het
Tet2	T	C	3: 133,172,643 (GRCm39)	E1873G	possibly damaging	Het
Txlng	T	A	X: 161,565,305 (GRCm39)	K341*	probably null	Het
Ugt2b37	T	A	5: 87,390,340 (GRCm39)	T369S	possibly damaging	Het
Usp46	C	A	5: 74,163,832 (GRCm39)	V302F	probably damaging	Het
Zfp292	A	G	4: 34,808,683 (GRCm39)	C1454R	probably benign	Het

Other mutations in Sorcs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Sorcs2	APN	5	36,222,696 (GRCm39)	missense	probably damaging	1.00
IGL01120:Sorcs2	APN	5	36,178,596 (GRCm39)	missense	probably damaging	0.99
IGL01730:Sorcs2	APN	5	36,205,153 (GRCm39)	missense	probably damaging	1.00
IGL02542:Sorcs2	APN	5	36,183,286 (GRCm39)	missense	probably damaging	0.98
IGL02730:Sorcs2	APN	5	36,219,896 (GRCm39)	missense	probably benign	0.11
IGL02965:Sorcs2	APN	5	36,235,301 (GRCm39)	missense	probably benign	0.13
IGL02997:Sorcs2	APN	5	36,225,492 (GRCm39)	missense	probably damaging	1.00
IGL03000:Sorcs2	APN	5	36,222,675 (GRCm39)	unclassified	probably benign
IGL03141:Sorcs2	APN	5	36,222,699 (GRCm39)	missense	probably benign	0.01
IGL03184:Sorcs2	APN	5	36,188,556 (GRCm39)	missense	probably benign	0.01
IGL03412:Sorcs2	APN	5	36,203,848 (GRCm39)	missense	probably damaging	1.00
R0180:Sorcs2	UTSW	5	36,311,189 (GRCm39)	missense	probably damaging	1.00
R0244:Sorcs2	UTSW	5	36,554,897 (GRCm39)	splice site	probably benign
R0345:Sorcs2	UTSW	5	36,185,218 (GRCm39)	missense	probably benign	0.01
R0519:Sorcs2	UTSW	5	36,188,534 (GRCm39)	missense	probably benign	0.08
R0624:Sorcs2	UTSW	5	36,222,777 (GRCm39)	missense	probably damaging	0.97
R0625:Sorcs2	UTSW	5	36,181,916 (GRCm39)	missense	possibly damaging	0.65
R1169:Sorcs2	UTSW	5	36,185,269 (GRCm39)	missense	possibly damaging	0.70
R1721:Sorcs2	UTSW	5	36,184,092 (GRCm39)	missense	probably damaging	0.98
R1809:Sorcs2	UTSW	5	36,386,564 (GRCm39)	splice site	probably benign
R1935:Sorcs2	UTSW	5	36,228,731 (GRCm39)	missense	possibly damaging	0.88
R1936:Sorcs2	UTSW	5	36,228,731 (GRCm39)	missense	possibly damaging	0.88
R2279:Sorcs2	UTSW	5	36,199,430 (GRCm39)	splice site	probably null
R3148:Sorcs2	UTSW	5	36,193,132 (GRCm39)	missense	probably benign	0.09
R3803:Sorcs2	UTSW	5	36,555,150 (GRCm39)	missense	probably benign	0.36
R3863:Sorcs2	UTSW	5	36,555,007 (GRCm39)	nonsense	probably null
R4092:Sorcs2	UTSW	5	36,183,166 (GRCm39)	missense	possibly damaging	0.92
R4620:Sorcs2	UTSW	5	36,194,838 (GRCm39)	missense	probably benign	0.00
R5079:Sorcs2	UTSW	5	36,200,796 (GRCm39)	missense	probably damaging	1.00
R5301:Sorcs2	UTSW	5	36,196,734 (GRCm39)	missense	probably damaging	1.00
R5470:Sorcs2	UTSW	5	36,188,527 (GRCm39)	missense	probably benign	0.00
R5568:Sorcs2	UTSW	5	36,203,874 (GRCm39)	nonsense	probably null
R5727:Sorcs2	UTSW	5	36,188,630 (GRCm39)	missense	possibly damaging	0.52
R5874:Sorcs2	UTSW	5	36,386,555 (GRCm39)	missense	probably damaging	1.00
R5890:Sorcs2	UTSW	5	36,386,535 (GRCm39)	missense	probably damaging	1.00
R5946:Sorcs2	UTSW	5	36,186,427 (GRCm39)	missense	probably damaging	1.00
R6005:Sorcs2	UTSW	5	36,176,728 (GRCm39)	missense	probably damaging	1.00
R6048:Sorcs2	UTSW	5	36,185,332 (GRCm39)	splice site	probably null
R6290:Sorcs2	UTSW	5	36,219,931 (GRCm39)	missense	probably damaging	1.00
R6292:Sorcs2	UTSW	5	36,219,931 (GRCm39)	missense	probably damaging	1.00
R6617:Sorcs2	UTSW	5	36,235,310 (GRCm39)	missense	probably damaging	1.00
R6681:Sorcs2	UTSW	5	36,555,154 (GRCm39)	missense	probably benign	0.00
R7024:Sorcs2	UTSW	5	36,178,605 (GRCm39)	missense	probably damaging	0.99
R7056:Sorcs2	UTSW	5	36,225,474 (GRCm39)	missense	probably damaging	1.00
R7569:Sorcs2	UTSW	5	36,183,220 (GRCm39)	missense	probably benign	0.01
R7641:Sorcs2	UTSW	5	36,555,296 (GRCm39)	missense	probably damaging	0.99
R7651:Sorcs2	UTSW	5	36,185,322 (GRCm39)	missense	probably damaging	1.00
R7674:Sorcs2	UTSW	5	36,555,296 (GRCm39)	missense	probably damaging	0.99
R7722:Sorcs2	UTSW	5	36,200,871 (GRCm39)	missense	probably damaging	1.00
R7748:Sorcs2	UTSW	5	36,386,519 (GRCm39)	missense	possibly damaging	0.56
R7764:Sorcs2	UTSW	5	36,181,416 (GRCm39)	missense	possibly damaging	0.48
R7813:Sorcs2	UTSW	5	36,181,958 (GRCm39)	missense	probably damaging	1.00
R8142:Sorcs2	UTSW	5	36,219,958 (GRCm39)	missense	possibly damaging	0.67
R8246:Sorcs2	UTSW	5	36,219,932 (GRCm39)	missense	probably damaging	1.00
R8254:Sorcs2	UTSW	5	36,195,550 (GRCm39)	missense	probably benign	0.00
R8349:Sorcs2	UTSW	5	36,386,519 (GRCm39)	missense	possibly damaging	0.56
R8350:Sorcs2	UTSW	5	36,311,207 (GRCm39)	missense	probably damaging	0.96
R8354:Sorcs2	UTSW	5	36,222,753 (GRCm39)	missense	probably benign	0.01
R8449:Sorcs2	UTSW	5	36,386,519 (GRCm39)	missense	possibly damaging	0.56
R8679:Sorcs2	UTSW	5	36,196,657 (GRCm39)	missense	probably benign	0.09
R8771:Sorcs2	UTSW	5	36,188,624 (GRCm39)	missense	probably damaging	1.00
R8935:Sorcs2	UTSW	5	36,193,202 (GRCm39)	missense	possibly damaging	0.79
R8964:Sorcs2	UTSW	5	36,386,511 (GRCm39)	missense	possibly damaging	0.85
R9164:Sorcs2	UTSW	5	36,235,312 (GRCm39)	missense	possibly damaging	0.94
R9221:Sorcs2	UTSW	5	36,181,910 (GRCm39)	critical splice donor site	probably null
R9290:Sorcs2	UTSW	5	36,183,225 (GRCm39)	missense	probably damaging	0.96
R9358:Sorcs2	UTSW	5	36,200,814 (GRCm39)	missense	probably damaging	1.00
R9492:Sorcs2	UTSW	5	36,186,484 (GRCm39)	missense	probably benign	0.08
R9493:Sorcs2	UTSW	5	36,199,529 (GRCm39)	missense	possibly damaging	0.61
R9640:Sorcs2	UTSW	5	36,222,765 (GRCm39)	nonsense	probably null
RF063:Sorcs2	UTSW	5	36,311,155 (GRCm39)	frame shift	probably null

Posted On

2012-04-20