Incidental Mutation 'R7911:Sorcs1'
ID 610546
Institutional Source Beutler Lab
Gene Symbol Sorcs1
Ensembl Gene ENSMUSG00000043531
Gene Name sortilin-related VPS10 domain containing receptor 1
Synonyms
MMRRC Submission 045960-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R7911 (G1)
Quality Score 212.009
Status Not validated
Chromosome 19
Chromosomal Location 50131737-50667084 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 50132470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 1163 (D1163Y)
Ref Sequence ENSEMBL: ENSMUSP00000147463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072685] [ENSMUST00000164039] [ENSMUST00000209413] [ENSMUST00000211687]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000072685
AA Change: D1163Y
SMART Domains Protein: ENSMUSP00000072472
Gene: ENSMUSG00000043531
AA Change: D1163Y

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 benign
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 unknown
Transcript: ENSMUST00000209413
AA Change: D1163Y
Predicted Effect probably benign
Transcript: ENSMUST00000211687
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (67/67)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik T C 5: 107,693,667 (GRCm39) F95L probably benign Het
Abca3 C G 17: 24,617,478 (GRCm39) D1058E probably damaging Het
Abca7 C A 10: 79,840,867 (GRCm39) R919S probably benign Het
Abcc2 T C 19: 43,792,109 (GRCm39) S297P probably benign Het
Abcc8 A G 7: 45,803,860 (GRCm39) L438P probably damaging Het
Acbd6 C A 1: 155,562,750 (GRCm39) D250E probably damaging Het
Ankrd31 A G 13: 97,015,608 (GRCm39) N1626D possibly damaging Het
Arrdc4 C T 7: 68,394,924 (GRCm39) E112K probably benign Het
B3galnt1 T A 3: 69,482,574 (GRCm39) Y229F probably damaging Het
Calcrl A C 2: 84,181,575 (GRCm39) I191S probably damaging Het
Camkmt T A 17: 85,759,866 (GRCm39) probably null Het
Card11 A G 5: 140,867,755 (GRCm39) probably null Het
Cfap157 A G 2: 32,668,219 (GRCm39) L407P probably damaging Het
Cfap299 T A 5: 98,885,567 (GRCm39) M158K possibly damaging Het
Chst15 T C 7: 131,872,251 (GRCm39) Q10R probably benign Het
Ciao3 A G 17: 25,999,372 (GRCm39) E262G probably benign Het
Col26a1 A G 5: 136,771,952 (GRCm39) L424P probably damaging Het
Cryzl2 T C 1: 157,299,925 (GRCm39) M308T probably benign Het
Ctu2 T C 8: 123,207,733 (GRCm39) I403T probably benign Het
Ddhd2 A G 8: 26,238,563 (GRCm39) probably null Het
Dmrt1 T A 19: 25,580,692 (GRCm39) L368Q probably benign Het
Dnah7b C A 1: 46,178,838 (GRCm39) P837Q probably damaging Het
Drg2 T A 11: 60,355,001 (GRCm39) L283Q possibly damaging Het
Dscam G A 16: 96,445,122 (GRCm39) T1523I probably benign Het
Farp1 T C 14: 121,479,818 (GRCm39) S370P probably damaging Het
Fbxl21 G A 13: 56,684,976 (GRCm39) G360D probably damaging Het
Fbxo39 T C 11: 72,208,358 (GRCm39) S237P probably damaging Het
Gart G T 16: 91,435,672 (GRCm39) F180L probably benign Het
Gng4 T C 13: 13,999,857 (GRCm39) L42P possibly damaging Het
Heatr9 T A 11: 83,403,234 (GRCm39) D435V probably damaging Het
Hsh2d A G 8: 72,950,648 (GRCm39) E45G probably damaging Het
Ighv1-74 A G 12: 115,766,410 (GRCm39) I70T probably damaging Het
Igkv1-133 T A 6: 67,701,924 (GRCm39) F9L probably benign Het
Ipo5 A G 14: 121,167,051 (GRCm39) probably null Het
Jmjd1c T C 10: 67,067,774 (GRCm39) V1578A probably damaging Het
Kcnj5 T C 9: 32,233,517 (GRCm39) D266G probably damaging Het
Klk1b9 A T 7: 43,629,211 (GRCm39) K206N probably damaging Het
Macir T A 1: 97,573,615 (GRCm39) H150L probably damaging Het
Madd C T 2: 90,997,853 (GRCm39) G725D probably null Het
Mki67 A T 7: 135,306,333 (GRCm39) H576Q probably damaging Het
Mprip T A 11: 59,651,681 (GRCm39) I36N Het
Mycbp2 T G 14: 103,437,621 (GRCm39) E2113D probably damaging Het
Noa1 T C 5: 77,457,677 (GRCm39) Y76C probably damaging Het
Noct A G 3: 51,155,069 (GRCm39) probably benign Het
Or5ac23 C T 16: 59,149,606 (GRCm39) D89N possibly damaging Het
Pcdhga6 C T 18: 37,842,479 (GRCm39) S733L not run Het
Pdlim7 T C 13: 55,646,919 (GRCm39) E389G probably damaging Het
Ppip5k1 A G 2: 121,173,139 (GRCm39) Y480H possibly damaging Het
Prc1 T A 7: 79,954,120 (GRCm39) D93E probably benign Het
Prdm15 A G 16: 97,613,792 (GRCm39) M459T probably benign Het
Ptpn13 G A 5: 103,688,924 (GRCm39) A906T probably damaging Het
Ptpn21 T C 12: 98,655,101 (GRCm39) E622G probably damaging Het
Pum1 T C 4: 130,501,788 (GRCm39) V1104A probably benign Het
Scn2a G A 2: 65,512,427 (GRCm39) R188Q probably null Het
Sh3pxd2b G A 11: 32,321,533 (GRCm39) V31I probably damaging Het
Skor1 T C 9: 63,052,328 (GRCm39) E547G possibly damaging Het
Slk C T 19: 47,603,668 (GRCm39) T183I Het
Tex14 G A 11: 87,424,428 (GRCm39) probably null Het
Them5 A G 3: 94,253,496 (GRCm39) T169A possibly damaging Het
Tlcd4 A T 3: 121,022,041 (GRCm39) I119K probably damaging Het
Trav5-4 T C 14: 53,941,908 (GRCm39) F94L probably benign Het
Trpc6 G C 9: 8,656,705 (GRCm39) G789R probably benign Het
Ttn A T 2: 76,537,095 (GRCm39) C34944* probably null Het
Usp53 T C 3: 122,754,916 (GRCm39) M180V probably benign Het
Vwa3b T C 1: 37,193,107 (GRCm39) S8P probably damaging Het
Wdr90 A T 17: 26,069,723 (GRCm39) M1205K probably benign Het
Zcwpw1 A T 5: 137,795,032 (GRCm39) E76V probably null 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
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'- CCCCGTAACATTTTAAATCCCG -3'
(R):5'- ACGGCAGCTTTTAGGTGTAAAG -3'

Sequencing Primer
(F):5'- GTAACATTTTAAATCCCGCTCTTCAC -3'
(R):5'- GCAGCTTTTAGGTGTAAAGAAAGAC -3'
Posted On 2019-12-20