Incidental Mutation 'IGL02102:Ston2'
ID279768
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ston2
Ensembl Gene ENSMUSG00000020961
Gene Namestonin 2
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.436) question?
Stock #IGL02102
Quality Score
Status
Chromosome12
Chromosomal Location91633009-91788387 bp(-) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) A to C at 91639724 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Glycine at position 896 (*896G)
Ref Sequence ENSEMBL: ENSMUSP00000053908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052969] [ENSMUST00000164713]
Predicted Effect probably null
Transcript: ENSMUST00000052969
AA Change: *896G
SMART Domains Protein: ENSMUSP00000053908
Gene: ENSMUSG00000020961
AA Change: *896G

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
SMART Domains Protein: ENSMUSP00000131098
Gene: ENSMUSG00000020961

DomainStartEndE-ValueType
Pfam:Stonin2_N 1 337 1.3e-181 PFAM
Pfam:Adap_comp_sub 554 872 1.9e-65 PFAM
Coding Region Coverage
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,777,439 T1338A probably benign Het
Adcy3 G A 12: 4,134,699 C125Y probably damaging Het
Aoc1 A T 6: 48,905,962 K257N probably damaging Het
Apob T C 12: 7,989,407 V497A possibly damaging Het
Atp8b5 T A 4: 43,364,167 V684D probably benign Het
AW551984 A G 9: 39,589,691 W763R probably damaging Het
Blm G A 7: 80,469,756 T1026M probably damaging Het
Cd160 A G 3: 96,805,570 I126T possibly damaging Het
Cdk14 T C 5: 5,380,083 K15E probably benign Het
Cnot6l T C 5: 96,091,659 K261R probably damaging Het
Cyp3a13 T G 5: 137,911,603 T153P probably benign Het
Ddx24 A G 12: 103,408,484 probably benign Het
Dido1 G A 2: 180,662,247 T1288I possibly damaging Het
Dnajc13 A G 9: 104,229,009 V322A possibly damaging Het
Dnajc25 T A 4: 59,017,693 Y117* probably null Het
Dsg1a A G 18: 20,332,032 N427D probably benign Het
Gabrq T G X: 72,827,545 probably null Het
Glce A G 9: 62,070,601 probably benign Het
Gm10477 T C X: 56,525,401 L45P probably damaging Het
Htt T A 5: 34,891,481 probably benign Het
Ift140 A G 17: 25,033,130 E317G probably benign Het
Jak1 A G 4: 101,159,086 M827T probably benign Het
Kalrn A G 16: 34,220,222 V932A probably damaging Het
Mdm2 A C 10: 117,692,717 S227R possibly damaging Het
Olfr1216 A G 2: 89,013,126 probably benign Het
Olfr153 T C 2: 87,532,461 F143L probably benign Het
Olfr305 T C 7: 86,363,866 Y157C probably benign Het
Olfr995 A G 2: 85,438,267 V297A probably damaging Het
Olfr996 G A 2: 85,579,673 V145I probably damaging Het
Pdilt T G 7: 119,486,950 E514A probably benign Het
Pepd A G 7: 34,945,603 D153G probably damaging Het
Ptgis A T 2: 167,225,447 V70E probably damaging Het
Rnf112 T C 11: 61,452,015 K262E probably benign Het
Setd5 G T 6: 113,150,985 G1300* probably null Het
Snx15 A G 19: 6,122,074 L113P possibly damaging Het
Sptbn1 T C 11: 30,137,427 D1004G probably damaging Het
Suco A G 1: 161,827,705 S1073P probably damaging Het
Susd1 A C 4: 59,369,636 D344E possibly damaging Het
Trnt1 G T 6: 106,778,112 probably null Het
Ttll12 A G 15: 83,582,063 F399S probably damaging Het
Vmn1r124 C T 7: 21,260,542 V26I probably benign Het
Vmn1r52 T A 6: 90,179,207 N164K possibly damaging Het
Vmn1r56 A T 7: 5,196,336 M94K possibly damaging Het
Vmn1r80 T C 7: 12,193,691 F243L probably damaging Het
Zdhhc8 G A 16: 18,225,199 S379F possibly damaging Het
Other mutations in Ston2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01116:Ston2 APN 12 91648748 missense possibly damaging 0.67
IGL03177:Ston2 APN 12 91647657 missense probably damaging 1.00
IGL03233:Ston2 APN 12 91647853 missense probably damaging 1.00
PIT4305001:Ston2 UTSW 12 91648502 missense possibly damaging 0.90
R0158:Ston2 UTSW 12 91740602 missense probably damaging 1.00
R0365:Ston2 UTSW 12 91647860 missense probably benign 0.00
R0671:Ston2 UTSW 12 91740466 splice site probably null
R1005:Ston2 UTSW 12 91648848 missense possibly damaging 0.56
R1381:Ston2 UTSW 12 91740492 missense probably damaging 0.97
R1507:Ston2 UTSW 12 91641680 missense probably benign 0.02
R1737:Ston2 UTSW 12 91647907 missense probably damaging 1.00
R4029:Ston2 UTSW 12 91648263 missense possibly damaging 0.59
R4030:Ston2 UTSW 12 91648263 missense possibly damaging 0.59
R4552:Ston2 UTSW 12 91641872 missense probably damaging 1.00
R4569:Ston2 UTSW 12 91639722 makesense probably null
R4864:Ston2 UTSW 12 91648674 missense possibly damaging 0.91
R6278:Ston2 UTSW 12 91648330 missense probably damaging 1.00
R6637:Ston2 UTSW 12 91714112 missense probably damaging 0.97
R6679:Ston2 UTSW 12 91648096 missense probably damaging 1.00
R7142:Ston2 UTSW 12 91647235 missense probably damaging 1.00
R8047:Ston2 UTSW 12 91641843 missense probably damaging 1.00
R8093:Ston2 UTSW 12 91743686 missense probably damaging 0.97
R8259:Ston2 UTSW 12 91641680 missense probably benign 0.02
R8349:Ston2 UTSW 12 91641875 missense probably damaging 1.00
R8431:Ston2 UTSW 12 91648297 missense probably damaging 1.00
R8449:Ston2 UTSW 12 91641875 missense probably damaging 1.00
R8490:Ston2 UTSW 12 91648131 missense possibly damaging 0.48
X0064:Ston2 UTSW 12 91648905 missense possibly damaging 0.95
Z1088:Ston2 UTSW 12 91649067 missense possibly damaging 0.93
Z1177:Ston2 UTSW 12 91740630 missense possibly damaging 0.94
Posted On2015-04-16