Incidental Mutation 'R4632:Sort1'
ID 349255
Institutional Source Beutler Lab
Gene Symbol Sort1
Ensembl Gene ENSMUSG00000068747
Gene Name sortilin 1
Synonyms Ntsr3, neurotensin receptor 3, Ntr3, sortilin, 2900053A11Rik
MMRRC Submission 041897-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.810) question?
Stock # R4632 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 108191398-108268827 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 108253994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 553 (Q553H)
Ref Sequence ENSEMBL: ENSMUSP00000123564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102632] [ENSMUST00000135636]
AlphaFold Q6PHU5
Predicted Effect probably damaging
Transcript: ENSMUST00000102632
AA Change: Q553H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099692
Gene: ENSMUSG00000068747
AA Change: Q553H

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
low complexity region 33 47 N/A INTRINSIC
low complexity region 59 79 N/A INTRINSIC
VPS10 131 743 N/A SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000135636
AA Change: Q553H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123564
Gene: ENSMUSG00000068747
AA Change: Q553H

DomainStartEndE-ValueType
VPS10 1 218 2.3e-5 SMART
transmembrane domain 262 284 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the VPS10-related sortilin family of proteins. The encoded preproprotein is proteolytically processed by furin to generate the mature receptor. This receptor plays a role in the trafficking of different proteins to either the cell surface, or subcellular compartments such as lysosomes and endosomes. Expression levels of this gene may influence the risk of myocardial infarction in human patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a null allele exhbit increased protection from age- and injury-related neuron lose. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 T C 17: 31,283,447 (GRCm39) V44A probably benign Het
Abr C T 11: 76,399,845 (GRCm39) G39R probably benign Het
Adora2b TGGACCACTCCAGGACCACTC TGGACCACTC 11: 62,156,208 (GRCm39) probably null Het
Agbl1 A G 7: 76,063,433 (GRCm39) T47A probably benign Het
Akap13 G T 7: 75,316,301 (GRCm39) A1389S possibly damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Ankar T A 1: 72,686,343 (GRCm39) T1286S probably benign Het
Ankrd13c A G 3: 157,667,939 (GRCm39) H166R probably damaging Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
Arl16 A G 11: 120,356,610 (GRCm39) S130P probably damaging Het
Atp10a A T 7: 58,457,186 (GRCm39) Q895L possibly damaging Het
Atp13a5 T A 16: 29,167,537 (GRCm39) R138W probably damaging Het
Auts2 G A 5: 131,501,113 (GRCm39) T309M probably damaging Het
C6 A T 15: 4,789,350 (GRCm39) K265I probably benign Het
Casz1 A G 4: 149,036,312 (GRCm39) T1525A possibly damaging Het
Cd200l1 T G 16: 45,238,271 (GRCm39) H181P probably benign Het
Chpf2 A G 5: 24,796,829 (GRCm39) T592A probably benign Het
Cilp A T 9: 65,187,162 (GRCm39) T1086S probably benign Het
Cmip A G 8: 118,174,150 (GRCm39) Y410C possibly damaging Het
Csmd3 A G 15: 47,874,605 (GRCm39) C560R probably damaging Het
Dchs1 T A 7: 105,403,562 (GRCm39) E2993D probably benign Het
Dnah7a A G 1: 53,467,110 (GRCm39) F3585L probably damaging Het
Dspp A G 5: 104,325,272 (GRCm39) D545G unknown Het
Dusp7 T A 9: 106,247,965 (GRCm39) S198T possibly damaging Het
Ell2 A T 13: 75,917,693 (GRCm39) Q541L possibly damaging Het
Fzd1 A T 5: 4,805,865 (GRCm39) Y572* probably null Het
Galntl6 T A 8: 58,880,857 (GRCm39) I99F probably damaging Het
Gnat3 G A 5: 18,220,364 (GRCm39) probably null Het
Hykk T C 9: 54,853,800 (GRCm39) I374T probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnt2 A G 1: 140,450,886 (GRCm39) I722V possibly damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Krt13 A G 11: 100,012,050 (GRCm39) L91P possibly damaging Het
Krtap4-13 A C 11: 99,700,354 (GRCm39) S102A unknown Het
Lrp2 A G 2: 69,319,473 (GRCm39) probably null Het
Lrriq1 C T 10: 103,057,288 (GRCm39) V171I probably damaging Het
Map3k4 C G 17: 12,451,391 (GRCm39) E1501Q probably damaging Het
Mapk11 C T 15: 89,030,579 (GRCm39) V105M probably damaging Het
Mlph G A 1: 90,867,108 (GRCm39) A377T probably damaging Het
Myo9a G A 9: 59,776,947 (GRCm39) C1115Y probably benign Het
Nabp1 A T 1: 51,513,761 (GRCm39) Y78* probably null Het
Nos2 T C 11: 78,848,417 (GRCm39) F1108S possibly damaging Het
Oas2 T C 5: 120,871,546 (GRCm39) K699R probably benign Het
Olfm5 T C 7: 103,810,100 (GRCm39) D87G probably benign Het
Oog3 A G 4: 143,884,698 (GRCm39) F413L probably benign Het
Or2c1 C T 16: 3,656,951 (GRCm39) T38M probably damaging Het
Pik3r4 A G 9: 105,532,098 (GRCm39) M557V probably benign Het
Pkhd1l1 A G 15: 44,347,796 (GRCm39) T224A probably benign Het
Pknox2 A G 9: 36,805,709 (GRCm39) S367P probably benign Het
Ppfia2 A G 10: 106,671,905 (GRCm39) probably null Het
Ppm1e G A 11: 87,122,356 (GRCm39) P534S probably damaging Het
Prepl T C 17: 85,390,659 (GRCm39) T100A probably benign Het
Ptpn13 A G 5: 103,717,726 (GRCm39) N1924S possibly damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Samd12 T A 15: 53,583,067 (GRCm39) H89L possibly damaging Het
Sephs1 T A 2: 4,901,571 (GRCm39) V211E probably benign Het
Setx C T 2: 29,038,627 (GRCm39) T1704I probably benign Het
Sltm T C 9: 70,486,651 (GRCm39) S439P possibly damaging Het
Svs5 G T 2: 164,079,667 (GRCm39) T80N probably benign Het
Tanc1 C A 2: 59,626,179 (GRCm39) T512K probably damaging Het
Tas2r139 T A 6: 42,118,432 (GRCm39) V188E probably damaging Het
Tesk2 C T 4: 116,598,909 (GRCm39) R6W probably benign Het
Tex101 G T 7: 24,367,793 (GRCm39) C186* probably null Het
Timp2 C T 11: 118,194,598 (GRCm39) S197N probably benign Het
Tmem37 A T 1: 119,995,979 (GRCm39) C33S probably damaging Het
Tmem69 T C 4: 116,410,235 (GRCm39) D245G probably benign Het
Trak1 G A 9: 121,283,491 (GRCm39) R419Q probably benign Het
Ube2j2 T A 4: 156,039,715 (GRCm39) I14N probably damaging Het
Ush2a T A 1: 188,128,071 (GRCm39) N694K possibly damaging Het
Utp20 A G 10: 88,614,123 (GRCm39) V1277A probably damaging Het
Vmn2r100 C T 17: 19,752,216 (GRCm39) S753F probably damaging Het
Vmn2r103 T C 17: 20,013,958 (GRCm39) I250T probably benign Het
Zap70 G T 1: 36,817,539 (GRCm39) A261S probably benign Het
Zdhhc6 A G 19: 55,302,741 (GRCm39) W87R probably damaging Het
Zfp410 A T 12: 84,372,510 (GRCm39) D112V probably damaging Het
Zfp462 T C 4: 55,012,981 (GRCm39) F501S probably damaging Het
Other mutations in Sort1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Sort1 APN 3 108,263,623 (GRCm39) missense probably damaging 0.99
IGL01677:Sort1 APN 3 108,252,201 (GRCm39) missense probably benign 0.05
IGL02532:Sort1 APN 3 108,233,036 (GRCm39) missense probably benign 0.44
IGL03354:Sort1 APN 3 108,256,022 (GRCm39) missense probably benign 0.00
R0266:Sort1 UTSW 3 108,252,247 (GRCm39) missense probably benign 0.09
R0277:Sort1 UTSW 3 108,231,908 (GRCm39) splice site probably benign
R0559:Sort1 UTSW 3 108,263,895 (GRCm39) missense probably damaging 1.00
R0597:Sort1 UTSW 3 108,246,226 (GRCm39) missense probably damaging 1.00
R0624:Sort1 UTSW 3 108,255,946 (GRCm39) missense probably damaging 1.00
R1803:Sort1 UTSW 3 108,233,015 (GRCm39) missense probably damaging 1.00
R1872:Sort1 UTSW 3 108,248,011 (GRCm39) missense probably benign 0.01
R1986:Sort1 UTSW 3 108,253,043 (GRCm39) missense possibly damaging 0.71
R2130:Sort1 UTSW 3 108,259,002 (GRCm39) missense probably benign
R2131:Sort1 UTSW 3 108,259,002 (GRCm39) missense probably benign
R2133:Sort1 UTSW 3 108,259,002 (GRCm39) missense probably benign
R2362:Sort1 UTSW 3 108,253,981 (GRCm39) missense possibly damaging 0.89
R3436:Sort1 UTSW 3 108,245,123 (GRCm39) missense probably damaging 1.00
R3548:Sort1 UTSW 3 108,245,225 (GRCm39) missense possibly damaging 0.83
R3700:Sort1 UTSW 3 108,263,955 (GRCm39) nonsense probably null
R4496:Sort1 UTSW 3 108,217,461 (GRCm39) missense probably benign 0.17
R4616:Sort1 UTSW 3 108,262,857 (GRCm39) missense possibly damaging 0.66
R4749:Sort1 UTSW 3 108,263,639 (GRCm39) nonsense probably null
R4994:Sort1 UTSW 3 108,235,385 (GRCm39) missense probably damaging 0.99
R5187:Sort1 UTSW 3 108,231,992 (GRCm39) missense probably damaging 1.00
R5753:Sort1 UTSW 3 108,253,090 (GRCm39) missense probably damaging 1.00
R6019:Sort1 UTSW 3 108,264,549 (GRCm39) missense possibly damaging 0.77
R6262:Sort1 UTSW 3 108,217,527 (GRCm39) missense probably damaging 1.00
R7369:Sort1 UTSW 3 108,258,996 (GRCm39) missense probably damaging 1.00
R7484:Sort1 UTSW 3 108,246,141 (GRCm39) missense probably damaging 1.00
R7512:Sort1 UTSW 3 108,233,323 (GRCm39) splice site probably null
R8076:Sort1 UTSW 3 108,246,183 (GRCm39) missense probably damaging 1.00
R8222:Sort1 UTSW 3 108,241,951 (GRCm39) missense probably benign
R8871:Sort1 UTSW 3 108,262,887 (GRCm39) critical splice donor site probably null
R8894:Sort1 UTSW 3 108,246,228 (GRCm39) missense probably damaging 1.00
R9169:Sort1 UTSW 3 108,247,994 (GRCm39) nonsense probably null
Z1177:Sort1 UTSW 3 108,191,696 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCCTTCTATGAGTGAATCCC -3'
(R):5'- GAAGGAGACACTCACAATTCCG -3'

Sequencing Primer
(F):5'- ACCCTGCTAACTAGAGGTATTGG -3'
(R):5'- CCGCTCAAGGATGTCTTTGAAATCG -3'
Posted On 2015-10-08