Incidental Mutation 'R9777:Sorcs1'
ID 733819
Institutional Source Beutler Lab
Gene Symbol Sorcs1
Ensembl Gene ENSMUSG00000043531
Gene Name sortilin-related VPS10 domain containing receptor 1
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R9777 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 50131737-50667084 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 50248190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000072472
Gene: ENSMUSG00000043531

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
SMART Domains Protein: ENSMUSP00000107386
Gene: ENSMUSG00000043531

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
SMART Domains Protein: ENSMUSP00000132615
Gene: ENSMUSG00000043531

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 null
Transcript: ENSMUST00000209413
Predicted Effect probably null
Transcript: ENSMUST00000209783
Predicted Effect probably null
Transcript: ENSMUST00000211008
Predicted Effect probably null
Transcript: ENSMUST00000211687
Meta Mutation Damage Score 0.9489 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.3%
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. 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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb A C 10: 10,283,214 (GRCm39) M164R possibly damaging Het
Alg10b T A 15: 90,111,656 (GRCm39) C167S probably benign Het
Ap2m1 C A 16: 20,358,113 (GRCm39) R44S probably damaging Het
Atrip T C 9: 108,902,964 (GRCm39) S37G probably benign Het
Bicra C T 7: 15,705,987 (GRCm39) V1485M probably benign Het
Brca2 C T 5: 150,480,579 (GRCm39) T2755I probably damaging Het
C1qtnf7 A T 5: 43,673,313 (GRCm39) probably benign Het
Ccdc7a C T 8: 129,618,860 (GRCm39) A895T possibly damaging Het
Cep290 T C 10: 100,354,529 (GRCm39) M871T probably benign Het
Col19a1 A G 1: 24,318,904 (GRCm39) V1062A unknown Het
Col24a1 T A 3: 145,021,103 (GRCm39) Y491* probably null Het
Cyp2c66 A T 19: 39,102,520 (GRCm39) I50F probably benign Het
Dbn1 C A 13: 55,625,639 (GRCm39) R261L probably benign Het
Dlat G A 9: 50,562,208 (GRCm39) A272V probably damaging Het
Dlgap3 A T 4: 127,130,127 (GRCm39) E967V possibly damaging Het
Dnhd1 A G 7: 105,369,456 (GRCm39) M4360V probably benign Het
Dock7 C T 4: 98,877,464 (GRCm39) R1058Q unknown Het
Dpp4 T A 2: 62,195,340 (GRCm39) I313F probably benign Het
Dus1l C T 11: 120,683,858 (GRCm39) V197I possibly damaging Het
Eef2k TATTCATTCATTCATTCATTCATTCATTCA TATTCATTCATTCATTCATTCATTCA 7: 120,499,453 (GRCm39) probably benign Het
Fat3 A G 9: 15,826,537 (GRCm39) S324P probably benign Het
Fkbp9 C T 6: 56,855,181 (GRCm39) H567Y possibly damaging Het
Galnt10 C A 11: 57,672,065 (GRCm39) P452T probably damaging Het
Glb1 A T 9: 114,246,084 (GRCm39) D45V probably damaging Het
Grm1 A T 10: 10,573,826 (GRCm39) V904E possibly damaging Het
Gsdma3 T G 11: 98,526,071 (GRCm39) V274G probably damaging Het
Gsn A G 2: 35,194,600 (GRCm39) E681G probably damaging Het
Hpdl A G 4: 116,678,062 (GRCm39) L133P probably damaging Het
Ighv1-75 A G 12: 115,797,655 (GRCm39) L89P probably damaging Het
Igsf21 T A 4: 139,755,407 (GRCm39) Q416L probably damaging Het
Il23a G C 10: 128,132,829 (GRCm39) R143G probably benign Het
Ildr1 A G 16: 36,528,659 (GRCm39) T35A probably benign Het
Ints13 G T 6: 146,463,326 (GRCm39) H235Q probably damaging Het
Lama4 C T 10: 38,924,101 (GRCm39) T503I probably benign Het
Mapk13 T A 17: 28,997,075 (GRCm39) L289Q probably damaging Het
Med13l T C 5: 118,887,024 (GRCm39) S1642P probably benign Het
Megf6 T A 4: 154,343,617 (GRCm39) S713R probably damaging Het
Mical3 A G 6: 120,959,529 (GRCm39) V922A possibly damaging Het
Mug1 C T 6: 121,857,864 (GRCm39) T1119M probably damaging Het
Myo18a T A 11: 77,733,080 (GRCm39) M1370K possibly damaging Het
Ndufa12 A G 10: 94,056,692 (GRCm39) E140G probably damaging Het
Nek4 T A 14: 30,706,401 (GRCm39) D696E probably benign Het
Oas1f A G 5: 120,994,429 (GRCm39) T317A probably benign Het
Or14c39 T C 7: 86,343,988 (GRCm39) V108A probably benign Het
Or2r11 A G 6: 42,437,029 (GRCm39) I308T probably benign Het
Or6c210 T C 10: 129,495,705 (GRCm39) I10T probably benign Het
Pcdh17 C T 14: 84,683,683 (GRCm39) P50L probably benign Het
Pgs1 A G 11: 117,894,256 (GRCm39) E261G probably benign Het
Pira12 T G 7: 3,897,612 (GRCm39) R494S probably damaging Het
Ppp1r1a T C 15: 103,439,857 (GRCm39) E145G possibly damaging Het
Ppp1r37 T C 7: 19,295,783 (GRCm39) E58G probably benign Het
Ptprc A T 1: 138,047,901 (GRCm39) V77E Het
Rhag A G 17: 41,139,416 (GRCm39) E117G probably benign Het
Sh3d19 C T 3: 86,028,483 (GRCm39) S653L probably benign Het
Sirpd C A 3: 15,385,813 (GRCm39) E30* probably null Het
Slc35a5 C T 16: 44,972,939 (GRCm39) probably null Het
Smc4 C T 3: 68,929,655 (GRCm39) R510* probably null Het
Sp140 A G 1: 85,569,461 (GRCm39) N357S probably damaging Het
Spic T A 10: 88,514,421 (GRCm39) T60S possibly damaging Het
Steap1 C A 5: 5,786,517 (GRCm39) A307S probably benign Het
Stk3 A T 15: 35,114,791 (GRCm39) S40R probably damaging Het
Taar1 T C 10: 23,796,676 (GRCm39) C125R probably damaging Het
Tep1 T A 14: 51,076,443 (GRCm39) K1664* probably null Het
Tmem198b C A 10: 128,638,273 (GRCm39) V97L possibly damaging Het
Xirp2 C A 2: 67,347,379 (GRCm39) P3207T possibly damaging Het
Zbtb38 C G 9: 96,570,355 (GRCm39) S243T possibly damaging Het
Zbtb38 T A 9: 96,570,356 (GRCm39) S243C probably damaging Het
Zfp692 C T 11: 58,199,638 (GRCm39) R76W probably benign Het
Zwilch A T 9: 64,054,170 (GRCm39) L509H probably damaging 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
R6891:Sorcs1 UTSW 19 50,213,557 (GRCm39) nonsense probably null
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
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'- ATTAACCCATATGTCCCTACAGG -3'
(R):5'- CCGCTACCTGCATCATTCAG -3'

Sequencing Primer
(F):5'- GCAGGATAAGGACCCGGG -3'
(R):5'- ACCTGCATCATTCAGGTAGGTAGC -3'
Posted On 2022-11-14