Incidental Mutation 'R8259:Ston2'
ID 640458
Institutional Source Beutler Lab
Gene Symbol Ston2
Ensembl Gene ENSMUSG00000020961
Gene Name stonin 2
Synonyms 4933401N24Rik
MMRRC Submission 067650-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R8259 (G1)
Quality Score 107.008
Status Validated
Chromosome 12
Chromosomal Location 91599686-91753237 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 91608454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 882 (I882N)
Ref Sequence ENSEMBL: ENSMUSP00000131098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052969] [ENSMUST00000164713]
AlphaFold Q8BZ60
Predicted Effect probably benign
Transcript: ENSMUST00000052969
SMART Domains Protein: ENSMUSP00000053908
Gene: ENSMUSG00000020961

DomainStartEndE-ValueType
Pfam:Stonin2_N 1 337 3e-228 PFAM
Pfam:Adap_comp_sub 554 873 7.3e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164713
AA Change: I882N

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000131098
Gene: ENSMUSG00000020961
AA Change: I882N

DomainStartEndE-ValueType
Pfam:Stonin2_N 1 337 1.3e-181 PFAM
Pfam:Adap_comp_sub 554 872 1.9e-65 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (82/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a membrane protein involved in regulating endocytotic complexes. The protein product is described as one of the clathrin-associated sorting proteins, adaptor molecules which ensure specific proteins are internalized. The encoded protein has also been shown to participate in synaptic vesicle recycling through interaction with synaptotagmin 1 required for neurotransmission. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit compromised endocytic synaptic vesicle sorting fidelity, hyperactivity and abnormal response to novel object. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A T 7: 119,939,422 (GRCm39) H272L probably benign Het
Abcg5 T G 17: 84,983,523 (GRCm39) T144P possibly damaging Het
Adam34 G A 8: 44,104,646 (GRCm39) S333L probably benign Het
Adcy6 A G 15: 98,498,919 (GRCm39) F294S probably damaging Het
Adhfe1 A G 1: 9,628,417 (GRCm39) N263S probably null Het
Aebp2 A T 6: 140,583,453 (GRCm39) Q309L possibly damaging Het
Akap7 A G 10: 25,047,054 (GRCm39) Y281H probably damaging Het
Aplf T C 6: 87,606,987 (GRCm39) R476G probably benign Het
Atg2a G A 19: 6,299,859 (GRCm39) A588T probably damaging Het
Birc6 A G 17: 74,905,073 (GRCm39) T1289A probably benign Het
Cacna1d A G 14: 29,773,475 (GRCm39) S1759P probably benign Het
Calcoco1 T C 15: 102,624,228 (GRCm39) D236G probably damaging Het
Camsap2 A T 1: 136,208,077 (GRCm39) D470E probably benign Het
Capn8 G T 1: 182,392,698 (GRCm39) V25L probably benign Het
Card10 A G 15: 78,660,884 (GRCm39) V1041A probably damaging Het
Ccr1 T A 9: 123,764,119 (GRCm39) H137L probably damaging Het
Cdh23 A T 10: 60,151,435 (GRCm39) D2483E probably damaging Het
Chd2 G T 7: 73,085,532 (GRCm39) Q1701K probably benign Het
Ckmt2 T A 13: 92,007,335 (GRCm39) R286S probably damaging Het
Clhc1 G A 11: 29,503,746 (GRCm39) R54Q probably benign Het
Cntnap3 T A 13: 64,935,681 (GRCm39) D394V probably damaging Het
Comp A G 8: 70,831,704 (GRCm39) D441G probably damaging Het
Cyp20a1 G A 1: 60,391,330 (GRCm39) probably null Het
Cyp27a1 A T 1: 74,771,214 (GRCm39) D133V probably benign Het
Cyp2a12 C T 7: 26,732,083 (GRCm39) Q275* probably null Het
Dnhd1 A T 7: 105,343,995 (GRCm39) I1780L probably benign Het
Dpy19l2 A G 9: 24,580,702 (GRCm39) V213A probably benign Het
Eml1 A T 12: 108,476,458 (GRCm39) I283F probably damaging Het
Ep300 A G 15: 81,523,218 (GRCm39) T1281A unknown Het
Ercc6l2 G A 13: 64,020,285 (GRCm39) E803K Het
Fat3 A G 9: 15,901,887 (GRCm39) V3046A possibly damaging Het
Fbxw20 A G 9: 109,063,763 (GRCm39) V3A probably benign Het
Fcgr2b A G 1: 170,795,702 (GRCm39) S76P possibly damaging Het
Fgg C T 3: 82,917,477 (GRCm39) Q169* probably null Het
Flnb A G 14: 7,889,183 (GRCm38) Y511C probably damaging Het
Ggt5 G A 10: 75,450,666 (GRCm39) V558I probably benign Het
Gm4779 G C X: 100,837,390 (GRCm39) T171S possibly damaging Het
Greb1 A T 12: 16,774,925 (GRCm39) C157* probably null Het
Grid2ip A G 5: 143,348,344 (GRCm39) E145G probably benign Het
Hdac11 T A 6: 91,149,210 (GRCm39) V238E probably damaging Het
Herc2 A G 7: 55,855,638 (GRCm39) D3858G probably damaging Het
Hoxc4 A G 15: 102,943,165 (GRCm39) Y6C probably damaging Het
Incenp A G 19: 9,870,993 (GRCm39) L212P unknown Het
Incenp G C 19: 9,871,005 (GRCm39) T208R unknown Het
Mctp1 T A 13: 76,949,666 (GRCm39) probably null Het
Megf8 T C 7: 25,057,848 (GRCm39) M2095T probably benign Het
Mroh2b G A 15: 4,941,391 (GRCm39) V308I probably benign Het
Muc1 T A 3: 89,139,341 (GRCm39) H580Q probably damaging Het
Naip6 A T 13: 100,452,920 (GRCm39) M47K probably benign Het
Nectin3 C T 16: 46,256,754 (GRCm39) R419Q probably benign Het
Nlrp4g T G 9: 124,353,392 (GRCm38) Y579D noncoding transcript Het
Nrxn1 C A 17: 90,471,249 (GRCm39) R1260L probably damaging Het
Nynrin A G 14: 56,100,815 (GRCm39) I202V possibly damaging Het
Or14j7 T C 17: 38,234,847 (GRCm39) L130P probably damaging Het
Or51e2 A G 7: 102,392,034 (GRCm39) Y59H probably damaging Het
Or5ac17 T C 16: 59,036,458 (GRCm39) I173V probably benign Het
Or5b98 T C 19: 12,931,727 (GRCm39) M258T possibly damaging Het
Pard3 G A 8: 128,098,021 (GRCm39) W354* probably null Het
Pcnx3 C T 19: 5,715,412 (GRCm39) G1946E probably damaging Het
Peak1 A G 9: 56,166,677 (GRCm39) V417A probably damaging Het
Prune2 A G 19: 17,189,672 (GRCm39) R3052G unknown Het
Prx T C 7: 27,218,808 (GRCm39) L1242P probably damaging Het
Pxylp1 A G 9: 96,707,633 (GRCm39) I183T probably benign Het
Ranbp2 A G 10: 58,291,755 (GRCm39) E254G probably benign Het
Ren1 C T 1: 133,278,534 (GRCm39) R31* probably null Het
Rhot2 C A 17: 26,058,864 (GRCm39) R512L probably benign Het
Rpa1 T C 11: 75,193,550 (GRCm39) N594D probably benign Het
Rpp14 T G 14: 8,090,526 (GRCm38) V150G probably null Het
Rxfp2 T A 5: 149,983,365 (GRCm39) I300K probably damaging Het
Sbno1 A T 5: 124,519,759 (GRCm39) V1173E probably damaging Het
Scarf1 T A 11: 75,414,689 (GRCm39) S486T probably damaging Het
Slc24a4 T C 12: 102,220,928 (GRCm39) V455A probably damaging Het
Slitrk1 A G 14: 109,148,653 (GRCm39) V686A probably benign Het
Spata31e2 T C 1: 26,721,562 (GRCm39) E1206G probably benign Het
Syne2 C A 12: 75,996,143 (GRCm39) Q2228K possibly damaging Het
Tcf20 A C 15: 82,736,474 (GRCm39) F1659C probably damaging Het
Tenm4 G A 7: 96,517,198 (GRCm39) G1430S probably damaging Het
Tlr12 C A 4: 128,511,492 (GRCm39) A253S probably benign Het
Tmem87a A G 2: 120,227,928 (GRCm39) F73S possibly damaging Het
Trpm1 G A 7: 63,918,777 (GRCm39) A1590T probably benign Het
Usp13 C T 3: 32,971,748 (GRCm39) Q743* probably null Het
Vmn1r184 T A 7: 25,966,686 (GRCm39) M144K probably benign Het
Wee2 A G 6: 40,421,114 (GRCm39) D68G probably benign Het
Other mutations in Ston2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01116:Ston2 APN 12 91,615,522 (GRCm39) missense possibly damaging 0.67
IGL02102:Ston2 APN 12 91,606,498 (GRCm39) makesense probably null
IGL03177:Ston2 APN 12 91,614,431 (GRCm39) missense probably damaging 1.00
IGL03233:Ston2 APN 12 91,614,627 (GRCm39) missense probably damaging 1.00
PIT4305001:Ston2 UTSW 12 91,615,276 (GRCm39) missense possibly damaging 0.90
R0158:Ston2 UTSW 12 91,707,376 (GRCm39) missense probably damaging 1.00
R0365:Ston2 UTSW 12 91,614,634 (GRCm39) missense probably benign 0.00
R0671:Ston2 UTSW 12 91,707,240 (GRCm39) splice site probably null
R1005:Ston2 UTSW 12 91,615,622 (GRCm39) missense possibly damaging 0.56
R1381:Ston2 UTSW 12 91,707,266 (GRCm39) missense probably damaging 0.97
R1507:Ston2 UTSW 12 91,608,454 (GRCm39) missense probably benign 0.02
R1737:Ston2 UTSW 12 91,614,681 (GRCm39) missense probably damaging 1.00
R4029:Ston2 UTSW 12 91,615,037 (GRCm39) missense possibly damaging 0.59
R4030:Ston2 UTSW 12 91,615,037 (GRCm39) missense possibly damaging 0.59
R4552:Ston2 UTSW 12 91,608,646 (GRCm39) missense probably damaging 1.00
R4569:Ston2 UTSW 12 91,606,496 (GRCm39) makesense probably null
R4864:Ston2 UTSW 12 91,615,448 (GRCm39) missense possibly damaging 0.91
R6278:Ston2 UTSW 12 91,615,104 (GRCm39) missense probably damaging 1.00
R6637:Ston2 UTSW 12 91,680,886 (GRCm39) missense probably damaging 0.97
R6679:Ston2 UTSW 12 91,614,870 (GRCm39) missense probably damaging 1.00
R7142:Ston2 UTSW 12 91,614,009 (GRCm39) missense probably damaging 1.00
R8047:Ston2 UTSW 12 91,608,617 (GRCm39) missense probably damaging 1.00
R8093:Ston2 UTSW 12 91,710,460 (GRCm39) missense probably damaging 0.97
R8349:Ston2 UTSW 12 91,608,649 (GRCm39) missense probably damaging 1.00
R8431:Ston2 UTSW 12 91,615,071 (GRCm39) missense probably damaging 1.00
R8449:Ston2 UTSW 12 91,608,649 (GRCm39) missense probably damaging 1.00
R8490:Ston2 UTSW 12 91,614,905 (GRCm39) missense possibly damaging 0.48
R8885:Ston2 UTSW 12 91,606,498 (GRCm39) makesense probably null
R9238:Ston2 UTSW 12 91,615,461 (GRCm39) missense probably benign 0.01
R9502:Ston2 UTSW 12 91,707,424 (GRCm39) missense possibly damaging 0.79
X0064:Ston2 UTSW 12 91,615,679 (GRCm39) missense possibly damaging 0.95
Z1088:Ston2 UTSW 12 91,615,841 (GRCm39) missense possibly damaging 0.93
Z1177:Ston2 UTSW 12 91,707,404 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- AGCTTATCATGTTCCCAGCC -3'
(R):5'- GTGCCTTCCAGATTTGCCAAC -3'

Sequencing Primer
(F):5'- GTGCTGCTATTTACGTCAGATAATAC -3'
(R):5'- GCCAACTATGTAAACGTTGAGTTCAG -3'
Posted On 2020-07-28