Incidental Mutation 'R1737:Ston2'
ID 199805
Institutional Source Beutler Lab
Gene Symbol Ston2
Ensembl Gene ENSMUSG00000020961
Gene Name stonin 2
Synonyms 4933401N24Rik
MMRRC Submission 039769-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R1737 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 91599686-91753237 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 91614681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 576 (F576I)
Ref Sequence ENSEMBL: ENSMUSP00000131098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052969] [ENSMUST00000164713]
AlphaFold Q8BZ60
Predicted Effect probably damaging
Transcript: ENSMUST00000052969
AA Change: F576I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053908
Gene: ENSMUSG00000020961
AA Change: F576I

DomainStartEndE-ValueType
Pfam:Stonin2_N 1 337 3e-228 PFAM
Pfam:Adap_comp_sub 554 873 7.3e-60 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164713
AA Change: F576I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131098
Gene: ENSMUSG00000020961
AA Change: F576I

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 0.1542 question?
Coding Region Coverage
  • 1x: 97.6%
  • 3x: 96.9%
  • 10x: 95.1%
  • 20x: 91.4%
Validation Efficiency 100% (75/75)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Ak7 G A 12: 105,708,591 (GRCm39) V349M probably damaging Het
Aldh1a2 A T 9: 71,192,453 (GRCm39) E436V possibly damaging Het
Apc C A 18: 34,450,075 (GRCm39) P2290T probably damaging Het
Atp10a T C 7: 58,476,986 (GRCm39) probably benign Het
Bahd1 T C 2: 118,746,404 (GRCm39) S8P probably damaging Het
BC049715 C T 6: 136,817,306 (GRCm39) P182L probably damaging Het
Capn10 T C 1: 92,862,677 (GRCm39) Y28H probably benign Het
Cdh10 A T 15: 18,964,149 (GRCm39) I104F probably damaging Het
Cep170b A G 12: 112,703,061 (GRCm39) D508G possibly damaging Het
Ces2a G T 8: 105,467,456 (GRCm39) A494S probably damaging Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Cltc G A 11: 86,624,553 (GRCm39) T123M probably damaging Het
Cnot1 A G 8: 96,474,904 (GRCm39) S1102P probably damaging Het
Col12a1 C A 9: 79,610,733 (GRCm39) D224Y probably damaging Het
Col14a1 T A 15: 55,208,357 (GRCm39) probably benign Het
Cyp7a1 T A 4: 6,272,848 (GRCm39) T122S probably benign Het
Dock4 A G 12: 40,857,000 (GRCm39) probably null Het
Eid2 T C 7: 27,967,924 (GRCm39) V182A possibly damaging Het
Eloa A T 4: 135,738,081 (GRCm39) V293D probably benign Het
Enkur G A 2: 21,199,106 (GRCm39) P143S probably damaging Het
Ep300 T C 15: 81,510,548 (GRCm39) Y99H probably damaging Het
Fbxw5 C A 2: 25,393,596 (GRCm39) L66I probably benign Het
Flg2 A T 3: 93,110,928 (GRCm39) R985S unknown Het
Fscb A T 12: 64,521,355 (GRCm39) I37K possibly damaging Het
H2-M10.3 T C 17: 36,679,296 (GRCm39) N3S probably benign Het
H2-Q7 A C 17: 35,658,602 (GRCm39) Y80S probably damaging Het
H60c A T 10: 3,209,914 (GRCm39) D124E possibly damaging Het
Hsd3b2 A T 3: 98,618,862 (GRCm39) V361E probably damaging Het
Ice1 A C 13: 70,754,444 (GRCm39) C547W probably damaging Het
Itprid1 A T 6: 55,945,289 (GRCm39) D670V probably damaging Het
Jmy A G 13: 93,635,303 (GRCm39) V171A probably damaging Het
Klf7 C A 1: 64,118,372 (GRCm39) R75L possibly damaging Het
Klk1b1 A T 7: 43,619,783 (GRCm39) Q114L probably benign Het
Krt10 A G 11: 99,278,213 (GRCm39) M280T possibly damaging Het
Lama1 G A 17: 68,109,916 (GRCm39) R2179Q probably benign Het
Mbd3l1 C T 9: 18,396,225 (GRCm39) P117S possibly damaging Het
Med18 A T 4: 132,187,420 (GRCm39) S71R probably damaging Het
Mov10l1 T A 15: 88,895,607 (GRCm39) I643N possibly damaging Het
Nfib T C 4: 82,416,826 (GRCm39) K70E probably damaging Het
Nr3c2 A C 8: 77,634,958 (GRCm39) S20R probably benign Het
Nr6a1 A T 2: 38,628,955 (GRCm39) F356L probably benign Het
Oca2 G A 7: 55,978,533 (GRCm39) R567H probably damaging Het
Or10k2 A G 8: 84,268,045 (GRCm39) S91G probably benign Het
Or1e35 T A 11: 73,797,911 (GRCm39) M136L possibly damaging Het
Or1p1 T C 11: 74,179,637 (GRCm39) L55P probably damaging Het
Or6c88 T A 10: 129,406,697 (GRCm39) Y58N probably damaging Het
Or8g33 T C 9: 39,338,254 (GRCm39) T38A probably damaging Het
Pcdhb10 A G 18: 37,546,009 (GRCm39) T362A probably benign Het
Pip5k1b A T 19: 24,374,404 (GRCm39) V59E probably damaging Het
Pkhd1l1 G A 15: 44,410,905 (GRCm39) probably null Het
Prr36 T C 8: 4,264,370 (GRCm39) probably benign Het
Ptger2 A G 14: 45,239,228 (GRCm39) T289A probably benign Het
Rad18 A G 6: 112,658,498 (GRCm39) F136L probably damaging Het
Rhbg T A 3: 88,153,181 (GRCm39) S258C probably damaging Het
Scgb2b27 T C 7: 33,712,739 (GRCm39) I34M possibly damaging Het
Senp7 C A 16: 55,944,162 (GRCm39) T135K probably damaging Het
Slc20a2 A G 8: 23,035,582 (GRCm39) I193M probably damaging Het
Slc27a1 G A 8: 72,023,504 (GRCm39) V47I probably benign Het
Slc9a5 G A 8: 106,094,766 (GRCm39) V786M probably damaging Het
Smyd1 A G 6: 71,193,875 (GRCm39) L350P probably damaging Het
Sulf2 A T 2: 165,924,598 (GRCm39) V496E probably benign Het
Tcl1b3 C A 12: 105,157,481 (GRCm39) S41Y probably damaging Het
Tulp2 A T 7: 45,169,201 (GRCm39) N256I probably damaging Het
Uspl1 T A 5: 149,138,668 (GRCm39) C349S probably damaging Het
Vcl T C 14: 21,070,604 (GRCm39) I730T probably damaging Het
Vmn1r61 A T 7: 5,614,060 (GRCm39) F85I probably benign Het
Zfp318 A G 17: 46,710,403 (GRCm39) T709A probably benign Het
Zfr2 T C 10: 81,077,919 (GRCm39) S249P probably damaging 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
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
R8259:Ston2 UTSW 12 91,608,454 (GRCm39) missense probably benign 0.02
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'- TTAAACACGTCCTCGTCCACGC -3'
(R):5'- GGAATTCAAGCTGGAGATCTGCCAC -3'

Sequencing Primer
(F):5'- CACTCGTGGAGCTTGATCC -3'
(R):5'- GGATAGACCGGGTCACTTAC -3'
Posted On 2014-05-23