Incidental Mutation 'R6891:Sorcs1'
ID 537251
Institutional Source Beutler Lab
Gene Symbol Sorcs1
Ensembl Gene ENSMUSG00000043531
Gene Name sortilin-related VPS10 domain containing receptor 1
Synonyms
MMRRC Submission 044985-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R6891 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 50131737-50667084 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 50213557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 723 (C723*)
Ref Sequence ENSEMBL: ENSMUSP00000147591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072685] [ENSMUST00000111756] [ENSMUST00000164039] [ENSMUST00000209413] [ENSMUST00000209783] [ENSMUST00000211008] [ENSMUST00000211687]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000072685
AA Change: C723*
SMART Domains Protein: ENSMUSP00000072472
Gene: ENSMUSG00000043531
AA Change: C723*

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
low complexity region 94 113 N/A INTRINSIC
VPS10 196 797 N/A SMART
PKD 799 889 3.84e-1 SMART
PKD 897 975 8.63e-1 SMART
transmembrane domain 1098 1120 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000111756
AA Change: C723*
SMART Domains Protein: ENSMUSP00000107386
Gene: ENSMUSG00000043531
AA Change: C723*

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
low complexity region 94 113 N/A INTRINSIC
VPS10 196 797 N/A SMART
PKD 799 889 3.84e-1 SMART
PKD 897 975 8.63e-1 SMART
transmembrane domain 1098 1120 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000164039
AA Change: C723*
SMART Domains Protein: ENSMUSP00000132615
Gene: ENSMUSG00000043531
AA Change: C723*

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
low complexity region 94 113 N/A INTRINSIC
VPS10 196 797 N/A SMART
PKD 799 889 3.84e-1 SMART
PKD 897 975 8.63e-1 SMART
transmembrane domain 1098 1120 N/A INTRINSIC
low complexity region 1129 1142 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168357
SMART Domains Protein: ENSMUSP00000129190
Gene: ENSMUSG00000043531

DomainStartEndE-ValueType
VPS10 1 320 6.99e-58 SMART
PKD 322 412 3.84e-1 SMART
PKD 420 498 8.63e-1 SMART
transmembrane domain 621 643 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000209413
AA Change: C723*
Predicted Effect probably null
Transcript: ENSMUST00000209783
AA Change: C723*
Predicted Effect probably null
Transcript: ENSMUST00000211008
AA Change: C723*
Predicted Effect probably null
Transcript: ENSMUST00000211687
AA Change: C723*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 97% (72/74)
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. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Female mice homozygous for a null allele have abnormal amyloid beta levels in the brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 C T 9: 107,806,346 (GRCm39) A223V probably benign Het
Agbl5 G T 5: 31,052,522 (GRCm39) R61L probably damaging Het
Agmat A T 4: 141,483,192 (GRCm39) T209S probably benign Het
Ankrd34a G A 3: 96,505,335 (GRCm39) V180I probably benign Het
Anks1 C T 17: 28,276,398 (GRCm39) T1047M probably damaging Het
Arhgap21 T A 2: 20,855,142 (GRCm39) I1407F probably damaging Het
Armc1 C A 3: 19,189,205 (GRCm39) C183F probably damaging Het
Atg13 A G 2: 91,516,136 (GRCm39) M196T probably benign Het
AU040320 G T 4: 126,740,231 (GRCm39) S864I possibly damaging Het
Btn2a2 T C 13: 23,667,014 (GRCm39) D197G probably benign Het
Carmil1 A G 13: 24,325,706 (GRCm39) I208T probably benign Het
Cbs T A 17: 31,841,431 (GRCm39) R263S probably damaging Het
Ccdc7a C A 8: 129,753,119 (GRCm39) R204L probably damaging Het
Cdhr1 A T 14: 36,819,334 (GRCm39) probably null Het
Cers4 G A 8: 4,573,731 (GRCm39) R378Q probably damaging Het
Chst1 T G 2: 92,444,088 (GRCm39) L187V probably benign Het
Clec4e A T 6: 123,260,565 (GRCm39) N164K probably damaging Het
Cln3 T A 7: 126,181,975 (GRCm39) D29V possibly damaging Het
Crybg2 A G 4: 133,809,148 (GRCm39) S187G probably benign Het
Ddx1 A T 12: 13,286,096 (GRCm39) N285K probably benign Het
Dmxl2 A G 9: 54,387,664 (GRCm39) I58T probably damaging Het
Dock4 A G 12: 40,829,135 (GRCm39) Y1007C probably damaging Het
Eral1 C T 11: 77,966,559 (GRCm39) V234I possibly damaging Het
Fads2b C A 2: 85,319,149 (GRCm39) M384I possibly damaging Het
Fads2b T G 2: 85,319,157 (GRCm39) T382P probably damaging Het
Fam161b A G 12: 84,401,554 (GRCm39) F400S probably damaging Het
Fmnl3 T C 15: 99,223,754 (GRCm39) D314G probably damaging Het
Foxred2 A T 15: 77,839,909 (GRCm39) L127Q probably damaging Het
Gjd2 G A 2: 113,843,575 (GRCm39) A14V possibly damaging Het
Gon4l A G 3: 88,766,173 (GRCm39) probably null Het
Gpr151 T A 18: 42,711,985 (GRCm39) D231V probably benign Het
Gzf1 A T 2: 148,526,689 (GRCm39) K387* probably null Het
Hfm1 T A 5: 107,065,240 (GRCm39) K146N possibly damaging Het
Hgf G A 5: 16,809,920 (GRCm39) probably null Het
Isoc2b A G 7: 4,854,487 (GRCm39) S15P probably damaging Het
Itga5 A G 15: 103,265,970 (GRCm39) S126P probably damaging Het
Kat6b A G 14: 21,719,104 (GRCm39) D1152G probably benign Het
Kcna4 C T 2: 107,126,652 (GRCm39) S462F probably damaging Het
Kif24 A T 4: 41,394,168 (GRCm39) C902S probably benign Het
Lama2 A T 10: 27,204,068 (GRCm39) C523* probably null Het
Lama2 G C 10: 27,204,078 (GRCm39) S520* probably null Het
Ltf T C 9: 110,854,181 (GRCm39) V332A probably benign Het
Mapkap1 T C 2: 34,453,153 (GRCm39) F349L probably damaging Het
Mdm1 A G 10: 117,983,937 (GRCm39) N188D probably benign Het
Mfn1 T C 3: 32,631,252 (GRCm39) S730P possibly damaging Het
Mrgprd T A 7: 144,876,087 (GRCm39) D319E probably benign Het
Mrps9 C A 1: 42,944,573 (GRCm39) L364I probably damaging Het
Myo1h C T 5: 114,487,673 (GRCm39) R626C probably damaging Het
Nme3 T C 17: 25,115,829 (GRCm39) S61P probably benign Het
Or2g1 A G 17: 38,106,395 (GRCm39) Q20R probably benign Het
Or52e18 A G 7: 104,609,192 (GRCm39) I249T probably damaging Het
Pald1 A G 10: 61,184,311 (GRCm39) probably null Het
Papola A T 12: 105,775,950 (GRCm39) probably benign Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Plch1 T C 3: 63,605,504 (GRCm39) T1458A probably benign Het
Polr3e A G 7: 120,543,873 (GRCm39) Q659R probably damaging Het
Pramel38 C A 5: 94,365,978 (GRCm39) P32Q probably damaging Het
Shoc2 T C 19: 53,976,548 (GRCm39) V146A probably benign Het
Slc15a1 T C 14: 121,713,442 (GRCm39) T362A probably benign Het
Smpd3 A G 8: 106,991,300 (GRCm39) Y418H probably damaging Het
Supt7l T A 5: 31,680,365 (GRCm39) N16Y probably damaging Het
Syngr2 T C 11: 117,703,499 (GRCm39) V105A probably damaging Het
Thrb T A 14: 17,981,899 (GRCm38) V8E probably benign Het
Tlx1 A T 19: 45,139,757 (GRCm39) I135F probably damaging Het
Tnfaip3 A G 10: 18,887,417 (GRCm39) I36T probably damaging Het
Troap A G 15: 98,980,569 (GRCm39) Y583C possibly damaging Het
Usp17lb T C 7: 104,490,307 (GRCm39) K207E probably benign Het
Vmn2r10 C T 5: 109,149,845 (GRCm39) V400M probably damaging Het
Wdr49 A T 3: 75,240,590 (GRCm39) probably null Het
Wdr64 G T 1: 175,533,634 (GRCm39) W90L probably damaging Het
Yme1l1 A G 2: 23,085,401 (GRCm39) E662G probably damaging Het
Zfp334 C T 2: 165,224,644 (GRCm39) V68I probably benign Het
Other mutations in Sorcs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Sorcs1 APN 19 50,178,492 (GRCm39) missense probably damaging 1.00
IGL00983:Sorcs1 APN 19 50,164,566 (GRCm39) missense probably damaging 0.98
IGL01125:Sorcs1 APN 19 50,216,639 (GRCm39) missense probably damaging 1.00
IGL01320:Sorcs1 APN 19 50,276,517 (GRCm39) splice site probably benign
IGL01445:Sorcs1 APN 19 50,141,504 (GRCm39) missense probably damaging 1.00
IGL01682:Sorcs1 APN 19 50,169,944 (GRCm39) missense probably benign 0.43
IGL01799:Sorcs1 APN 19 50,218,647 (GRCm39) critical splice donor site probably null
IGL02044:Sorcs1 APN 19 50,276,597 (GRCm39) splice site probably benign
IGL02111:Sorcs1 APN 19 50,218,683 (GRCm39) missense probably benign 0.00
IGL02364:Sorcs1 APN 19 50,322,036 (GRCm39) missense probably damaging 1.00
IGL02378:Sorcs1 APN 19 50,171,109 (GRCm39) nonsense probably null
IGL02498:Sorcs1 APN 19 50,666,606 (GRCm39) missense probably benign
IGL02658:Sorcs1 APN 19 50,178,530 (GRCm39) missense probably damaging 1.00
IGL02939:Sorcs1 APN 19 50,666,368 (GRCm39) nonsense probably null
IGL02942:Sorcs1 APN 19 50,463,875 (GRCm39) missense probably damaging 1.00
IGL03057:Sorcs1 APN 19 50,248,194 (GRCm39) nonsense probably null
IGL03230:Sorcs1 APN 19 50,230,531 (GRCm39) missense probably damaging 1.00
P0033:Sorcs1 UTSW 19 50,141,345 (GRCm39) missense probably damaging 0.98
R0109:Sorcs1 UTSW 19 50,367,329 (GRCm39) splice site probably benign
R0115:Sorcs1 UTSW 19 50,624,891 (GRCm39) intron probably benign
R0242:Sorcs1 UTSW 19 50,216,659 (GRCm39) missense probably damaging 1.00
R0242:Sorcs1 UTSW 19 50,216,659 (GRCm39) missense probably damaging 1.00
R0325:Sorcs1 UTSW 19 50,301,480 (GRCm39) splice site probably null
R0481:Sorcs1 UTSW 19 50,624,891 (GRCm39) intron probably benign
R0581:Sorcs1 UTSW 19 50,241,139 (GRCm39) missense possibly damaging 0.70
R0669:Sorcs1 UTSW 19 50,230,380 (GRCm39) splice site probably benign
R0980:Sorcs1 UTSW 19 50,220,761 (GRCm39) missense probably benign 0.04
R1158:Sorcs1 UTSW 19 50,132,598 (GRCm39) unclassified probably benign
R1519:Sorcs1 UTSW 19 50,241,025 (GRCm39) missense probably benign 0.05
R1669:Sorcs1 UTSW 19 50,463,860 (GRCm39) missense probably damaging 0.99
R1779:Sorcs1 UTSW 19 50,163,481 (GRCm39) splice site probably benign
R1783:Sorcs1 UTSW 19 50,216,747 (GRCm39) critical splice acceptor site probably null
R1927:Sorcs1 UTSW 19 50,210,633 (GRCm39) missense probably damaging 1.00
R1935:Sorcs1 UTSW 19 50,221,082 (GRCm39) missense probably damaging 0.96
R1936:Sorcs1 UTSW 19 50,221,082 (GRCm39) missense probably damaging 0.96
R2109:Sorcs1 UTSW 19 50,666,630 (GRCm39) missense probably benign
R2206:Sorcs1 UTSW 19 50,218,655 (GRCm39) missense possibly damaging 0.81
R2207:Sorcs1 UTSW 19 50,218,655 (GRCm39) missense possibly damaging 0.81
R3031:Sorcs1 UTSW 19 50,213,613 (GRCm39) missense probably damaging 0.98
R3032:Sorcs1 UTSW 19 50,213,613 (GRCm39) missense probably damaging 0.98
R3107:Sorcs1 UTSW 19 50,199,088 (GRCm39) missense possibly damaging 0.83
R3508:Sorcs1 UTSW 19 50,213,613 (GRCm39) missense probably damaging 0.98
R3738:Sorcs1 UTSW 19 50,139,659 (GRCm39) missense probably benign 0.03
R4127:Sorcs1 UTSW 19 50,210,597 (GRCm39) missense probably benign 0.29
R4212:Sorcs1 UTSW 19 50,213,613 (GRCm39) missense probably damaging 0.98
R4213:Sorcs1 UTSW 19 50,213,613 (GRCm39) missense probably damaging 0.98
R4385:Sorcs1 UTSW 19 50,178,599 (GRCm39) missense probably benign 0.01
R4424:Sorcs1 UTSW 19 50,367,379 (GRCm39) missense probably damaging 0.97
R4603:Sorcs1 UTSW 19 50,301,402 (GRCm39) critical splice donor site probably null
R4679:Sorcs1 UTSW 19 50,171,107 (GRCm39) missense probably benign
R4780:Sorcs1 UTSW 19 50,132,419 (GRCm39) unclassified probably benign
R4781:Sorcs1 UTSW 19 50,171,119 (GRCm39) missense probably damaging 1.00
R4823:Sorcs1 UTSW 19 50,218,740 (GRCm39) missense possibly damaging 0.87
R4823:Sorcs1 UTSW 19 50,666,578 (GRCm39) missense possibly damaging 0.92
R4883:Sorcs1 UTSW 19 50,220,741 (GRCm39) missense probably benign 0.00
R5091:Sorcs1 UTSW 19 50,248,190 (GRCm39) critical splice donor site probably null
R5105:Sorcs1 UTSW 19 50,213,579 (GRCm39) missense possibly damaging 0.57
R5437:Sorcs1 UTSW 19 50,241,040 (GRCm39) missense probably benign 0.19
R5574:Sorcs1 UTSW 19 50,210,571 (GRCm39) missense probably damaging 1.00
R5734:Sorcs1 UTSW 19 50,171,213 (GRCm39) missense probably benign 0.04
R6045:Sorcs1 UTSW 19 50,178,555 (GRCm39) nonsense probably null
R6091:Sorcs1 UTSW 19 50,276,539 (GRCm39) missense possibly damaging 0.64
R6119:Sorcs1 UTSW 19 50,276,532 (GRCm39) missense probably damaging 0.98
R6226:Sorcs1 UTSW 19 50,169,852 (GRCm39) missense probably damaging 1.00
R6337:Sorcs1 UTSW 19 50,132,562 (GRCm39) missense probably benign 0.00
R6378:Sorcs1 UTSW 19 50,213,615 (GRCm39) missense possibly damaging 0.57
R6782:Sorcs1 UTSW 19 50,164,560 (GRCm39) nonsense probably null
R6792:Sorcs1 UTSW 19 50,666,606 (GRCm39) missense probably benign
R7151:Sorcs1 UTSW 19 50,301,420 (GRCm39) missense probably damaging 1.00
R7223:Sorcs1 UTSW 19 50,178,480 (GRCm39) missense probably benign 0.06
R7356:Sorcs1 UTSW 19 50,163,595 (GRCm39) missense possibly damaging 0.86
R7471:Sorcs1 UTSW 19 50,250,701 (GRCm39) missense probably damaging 1.00
R7474:Sorcs1 UTSW 19 50,141,550 (GRCm39) missense possibly damaging 0.65
R7503:Sorcs1 UTSW 19 50,141,490 (GRCm39) missense probably benign
R7506:Sorcs1 UTSW 19 50,171,112 (GRCm39) nonsense probably null
R7573:Sorcs1 UTSW 19 50,141,234 (GRCm39) nonsense probably null
R7867:Sorcs1 UTSW 19 50,218,698 (GRCm39) nonsense probably null
R7911:Sorcs1 UTSW 19 50,132,470 (GRCm39) missense unknown
R8032:Sorcs1 UTSW 19 50,463,846 (GRCm39) missense probably benign 0.28
R8063:Sorcs1 UTSW 19 50,132,415 (GRCm39) missense unknown
R8463:Sorcs1 UTSW 19 50,248,248 (GRCm39) missense probably damaging 1.00
R8682:Sorcs1 UTSW 19 50,367,398 (GRCm39) missense probably damaging 0.99
R8724:Sorcs1 UTSW 19 50,139,658 (GRCm39) missense probably benign 0.33
R8926:Sorcs1 UTSW 19 50,241,096 (GRCm39) missense possibly damaging 0.94
R9160:Sorcs1 UTSW 19 50,213,658 (GRCm39) missense probably damaging 1.00
R9173:Sorcs1 UTSW 19 50,220,753 (GRCm39) missense possibly damaging 0.92
R9203:Sorcs1 UTSW 19 50,250,733 (GRCm39) missense probably damaging 1.00
R9229:Sorcs1 UTSW 19 50,141,300 (GRCm39) missense probably benign 0.17
R9398:Sorcs1 UTSW 19 50,213,651 (GRCm39) missense possibly damaging 0.90
R9430:Sorcs1 UTSW 19 50,199,208 (GRCm39) missense probably damaging 1.00
R9510:Sorcs1 UTSW 19 50,666,521 (GRCm39) missense probably benign 0.04
R9511:Sorcs1 UTSW 19 50,666,521 (GRCm39) missense probably benign 0.04
R9744:Sorcs1 UTSW 19 50,215,275 (GRCm39) missense probably damaging 1.00
R9777:Sorcs1 UTSW 19 50,248,190 (GRCm39) critical splice donor site probably null
X0024:Sorcs1 UTSW 19 50,171,201 (GRCm39) missense possibly damaging 0.92
Z1088:Sorcs1 UTSW 19 50,210,581 (GRCm39) missense probably benign 0.16
Z1177:Sorcs1 UTSW 19 50,322,037 (GRCm39) missense probably damaging 1.00
Z1177:Sorcs1 UTSW 19 50,215,180 (GRCm39) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- TCCAAAGAAGAAACCGCTGATTTC -3'
(R):5'- GGCTGCAGGAGAAGTCTAATC -3'

Sequencing Primer
(F):5'- GAAGAAACCGCTGATTTCTTTTG -3'
(R):5'- CAGGAGAAGTCTAATCTTTGTGC -3'
Posted On 2018-10-18