Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01120:Sorcs2'

51139

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 #

IGL01120

Quality Score

Status

Chromosome

Chromosomal Location

36174524-36555483 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36178596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1131 (E1131G)

Ref Sequence

ENSEMBL: ENSMUSP00000041828 (fasta)

Gene Model

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

AlphaFold

Q9EPR5

Predicted Effect

probably damaging
Transcript: ENSMUST00000037370
AA Change: E1131G

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

SMART Domains

Protein: ENSMUSP00000041828
Gene: ENSMUSG00000029093
AA Change: E1131G

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd11	T	A	5: 135,040,329 (GRCm39)		probably null	Het
Armcx5	T	C	X: 134,647,112 (GRCm39)	I396T	probably damaging	Het
Atm	T	C	9: 53,372,422 (GRCm39)		probably null	Het
Atp6v1c2	C	T	12: 17,358,294 (GRCm39)	E88K	probably damaging	Het
Caskin1	A	G	17: 24,724,343 (GRCm39)	T1044A	possibly damaging	Het
Cyp3a59	T	A	5: 146,039,671 (GRCm39)	S315T	probably damaging	Het
Dnaja1	T	A	4: 40,730,248 (GRCm39)	I240N	probably damaging	Het
Dnttip2	C	T	3: 122,072,386 (GRCm39)		probably benign	Het
Elavl2	A	T	4: 91,152,309 (GRCm39)	M136K	probably damaging	Het
Eml5	C	T	12: 98,810,278 (GRCm39)	V893I	probably benign	Het
Fbxw4	G	T	19: 45,628,955 (GRCm39)	A2E	probably benign	Het
Flg2	T	G	3: 93,108,475 (GRCm39)	S168A	probably damaging	Het
Fndc3a	G	A	14: 72,794,102 (GRCm39)	T857I	probably benign	Het
Gria1	A	G	11: 57,208,495 (GRCm39)	K797E	probably damaging	Het
Herc1	T	C	9: 66,336,162 (GRCm39)	F1569S	probably benign	Het
Kash5	G	T	7: 44,833,622 (GRCm39)	S560Y	probably damaging	Het
Lrrc45	T	C	11: 120,610,836 (GRCm39)	V524A	probably benign	Het
Myo19	T	C	11: 84,798,104 (GRCm39)	L708P	probably damaging	Het
Nup107	A	G	10: 117,606,146 (GRCm39)		probably benign	Het
Or10ab4	T	G	7: 107,654,774 (GRCm39)	M195R	probably damaging	Het
Or52h9	T	C	7: 104,202,552 (GRCm39)	V142A	probably benign	Het
Palm	A	G	10: 79,652,621 (GRCm39)		probably benign	Het
Phf14	T	C	6: 11,962,739 (GRCm39)	V462A	probably damaging	Het
Pkhd1l1	G	A	15: 44,368,708 (GRCm39)		probably null	Het
Pkp3	T	A	7: 140,664,095 (GRCm39)	L424*	probably null	Het
Prss29	A	G	17: 25,541,107 (GRCm39)	K184E	probably benign	Het
Prss3b	A	T	6: 41,008,607 (GRCm39)	Y236N	probably damaging	Het
Ptcd1	C	T	5: 145,089,053 (GRCm39)		probably benign	Het
Pth1r	T	C	9: 110,556,198 (GRCm39)	H225R	probably damaging	Het
Rffl	C	T	11: 82,696,848 (GRCm39)	V332I	probably damaging	Het
Rsl1	T	C	13: 67,325,230 (GRCm39)		probably benign	Het
Scart2	T	C	7: 139,876,472 (GRCm39)	L648P	probably benign	Het
Scn9a	T	C	2: 66,357,316 (GRCm39)	K986R	probably benign	Het
Slc22a15	A	G	3: 101,804,482 (GRCm39)	L181P	probably damaging	Het
Slc34a1	T	A	13: 55,556,884 (GRCm39)	L241H	probably damaging	Het
Slc4a4	C	A	5: 89,280,238 (GRCm39)	H354Q	probably damaging	Het
Ssc4d	C	A	5: 135,996,817 (GRCm39)	D95Y	probably damaging	Het
Tcte1	A	T	17: 45,850,594 (GRCm39)	D290V	probably damaging	Het
Thyn1	T	A	9: 26,915,070 (GRCm39)	M74K	probably benign	Het
Tlr4	C	T	4: 66,758,662 (GRCm39)	T485I	probably benign	Het
Trem1	A	G	17: 48,544,277 (GRCm39)	T101A	probably benign	Het
Ttc17	T	C	2: 94,202,141 (GRCm39)	E387G	probably damaging	Het
Vmn2r103	A	T	17: 20,013,259 (GRCm39)	T127S	probably benign	Het

Other mutations in Sorcs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Sorcs2	APN	5	36,194,745 (GRCm39)	splice site	probably null
IGL01064:Sorcs2	APN	5	36,222,696 (GRCm39)	missense	probably damaging	1.00
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

2013-06-21