Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02730:Sorcs2'

305420

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 #

IGL02730

Quality Score

Status

Chromosome

Chromosomal Location

36174524-36555483 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36219896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 383 (Y383H)

Ref Sequence

ENSEMBL: ENSMUSP00000041828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037370] [ENSMUST00000135324]

AlphaFold

Q9EPR5

Predicted Effect

probably benign
Transcript: ENSMUST00000037370
AA Change: Y383H

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000041828
Gene: ENSMUSG00000029093
AA Change: Y383H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000135324

SMART Domains

Protein: ENSMUSP00000123543
Gene: ENSMUSG00000029093

Domain	Start	End	E-Value	Type
SCOP:d1eur__	1	111	2e-3	SMART
Blast:VPS10	1	173	1e-126	BLAST
PDB:4N7E\|A	6	117	1e-8	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137040

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	A	5: 114,304,210 (GRCm39)		probably benign	Het
Ankib1	A	T	5: 3,752,995 (GRCm39)	V651E	probably damaging	Het
BC051665	G	A	13: 60,932,826 (GRCm39)		probably benign	Het
Ces1d	C	T	8: 93,912,644 (GRCm39)	G265S	probably benign	Het
Dsg1c	A	C	18: 20,407,887 (GRCm39)	D411A	probably damaging	Het
Exosc5	T	C	7: 25,362,622 (GRCm39)	I70T	possibly damaging	Het
Fgf20	T	A	8: 40,732,828 (GRCm39)	L203F	probably damaging	Het
Gpsm1	T	A	2: 26,215,390 (GRCm39)	V316E	probably benign	Het
Gtpbp1	T	A	15: 79,603,372 (GRCm39)	D620E	probably benign	Het
Hs6st1	A	G	1: 36,142,709 (GRCm39)	T215A	probably damaging	Het
Irgm2	T	A	11: 58,110,816 (GRCm39)	M169K	probably benign	Het
Kcns3	A	G	12: 11,142,076 (GRCm39)	S208P	probably benign	Het
Klra6	T	C	6: 129,999,660 (GRCm39)	T103A	probably benign	Het
Lrba	T	A	3: 86,235,506 (GRCm39)	M870K	probably damaging	Het
Mapk1ip1l	C	T	14: 47,548,377 (GRCm39)	T175I	possibly damaging	Het
Meig1	A	G	2: 3,412,947 (GRCm39)	Y25H	probably damaging	Het
Msh2	T	C	17: 88,014,643 (GRCm39)	F474L	probably damaging	Het
Nlrp4b	T	C	7: 10,448,685 (GRCm39)	F296S	probably damaging	Het
Or10d1b	C	T	9: 39,613,534 (GRCm39)	C177Y	probably damaging	Het
Or12d17	T	A	17: 37,777,750 (GRCm39)	Y218N	probably damaging	Het
Or14c40	T	C	7: 86,313,275 (GRCm39)	L135P	probably damaging	Het
Or2m12	T	A	16: 19,105,432 (GRCm39)	L20F	probably benign	Het
Or5al6	C	T	2: 85,976,443 (GRCm39)	V212M	probably benign	Het
Or5w15	T	A	2: 87,567,985 (GRCm39)	I228F	probably damaging	Het
Or6z3	T	C	7: 6,464,123 (GRCm39)	I205T	possibly damaging	Het
Or8s8	A	G	15: 98,354,317 (GRCm39)	N42S	probably damaging	Het
Pds5b	A	G	5: 150,704,217 (GRCm39)		probably benign	Het
Plekhg1	A	G	10: 3,823,242 (GRCm39)	D70G	possibly damaging	Het
Rubcnl	C	T	14: 75,287,588 (GRCm39)	T624M	probably damaging	Het
Runx1t1	C	T	4: 13,860,019 (GRCm39)	H317Y	probably benign	Het
Sec22a	T	C	16: 35,134,470 (GRCm39)	D282G	probably damaging	Het
Serpina3a	T	C	12: 104,085,922 (GRCm39)	F126L	probably damaging	Het
Serpinc1	A	G	1: 160,827,598 (GRCm39)	D399G	probably damaging	Het
Speer3	T	A	5: 13,843,285 (GRCm39)	M64K	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stx1b	C	A	7: 127,414,549 (GRCm39)	R25L	probably benign	Het
Syt5	A	G	7: 4,545,356 (GRCm39)	V181A	probably damaging	Het
Tspoap1	G	T	11: 87,672,535 (GRCm39)	V1788F	probably damaging	Het
Vinac1	T	C	2: 128,880,646 (GRCm39)	T427A	possibly damaging	Het
Vmn1r233	A	G	17: 21,214,057 (GRCm39)	S298P	possibly damaging	Het
Xntrpc	T	C	7: 101,731,319 (GRCm39)	S353P	probably damaging	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
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
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

2015-04-16