Incidental Mutation 'R7142:Ston2'
ID 553490
Institutional Source Beutler Lab
Gene Symbol Ston2
Ensembl Gene ENSMUSG00000020961
Gene Name stonin 2
Synonyms 4933401N24Rik
MMRRC Submission 045250-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R7142 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 91599686-91753237 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91614009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 800 (S800P)
Ref Sequence ENSEMBL: ENSMUSP00000053908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052969] [ENSMUST00000164713]
AlphaFold Q8BZ60
Predicted Effect probably damaging
Transcript: ENSMUST00000052969
AA Change: S800P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053908
Gene: ENSMUSG00000020961
AA Change: S800P

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: S800P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131098
Gene: ENSMUSG00000020961
AA Change: S800P

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 0.3276 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (63/64)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T A 10: 78,903,446 (GRCm39) H290L probably damaging Het
Abca1 T A 4: 53,082,050 (GRCm39) S737C probably damaging Het
Abca14 G C 7: 119,850,406 (GRCm39) V753L possibly damaging Het
Adgrl1 C T 8: 84,663,829 (GRCm39) H1099Y probably benign Het
Akap6 T G 12: 52,934,147 (GRCm39) D546E probably benign Het
Aldh1l1 G A 6: 90,540,398 (GRCm39) D228N probably damaging Het
Cacna1e G T 1: 154,288,230 (GRCm39) Q1883K probably damaging Het
Caskin2 A G 11: 115,697,562 (GRCm39) Y125H probably benign Het
Ccdc85a A T 11: 28,527,192 (GRCm39) Y139N probably damaging Het
Cd93 C T 2: 148,283,725 (GRCm39) W540* probably null Het
Cdh3 G A 8: 107,271,860 (GRCm39) probably null Het
Chmp2b G A 16: 65,343,794 (GRCm39) Q88* probably null Het
Cpt1a T C 19: 3,425,100 (GRCm39) M489T probably benign Het
Ctsk G A 3: 95,414,259 (GRCm39) V274M possibly damaging Het
Cyp3a44 A G 5: 145,714,771 (GRCm39) V460A probably benign Het
Cypt4 C T 9: 24,536,740 (GRCm39) R77* probably null Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dnah7a A T 1: 53,452,927 (GRCm39) Y3850* probably null Het
Drosha A T 15: 12,924,232 (GRCm39) T1205S possibly damaging Het
Eif3j2 T C 18: 43,610,465 (GRCm39) E116G probably damaging Het
Ercc5 A G 1: 44,213,374 (GRCm39) E790G probably damaging Het
Fam163b C T 2: 27,003,567 (GRCm39) R29Q probably damaging Het
Fbxo44 C T 4: 148,243,269 (GRCm39) G50E unknown Het
Foxo3 T C 10: 42,150,591 (GRCm39) probably null Het
Gnal C T 18: 67,351,599 (GRCm39) P386L probably damaging Het
Gpc5 T A 14: 115,654,615 (GRCm39) H478Q probably benign Het
Grhl2 A T 15: 37,279,826 (GRCm39) D178V probably benign Het
Gtf2i C A 5: 134,273,705 (GRCm39) V755L possibly damaging Het
Hal T C 10: 93,336,513 (GRCm39) V414A possibly damaging Het
Hmx2 T C 7: 131,157,465 (GRCm39) V193A probably damaging Het
Il17a T A 1: 20,802,327 (GRCm39) M12K probably benign Het
Invs T A 4: 48,407,696 (GRCm39) I557N probably damaging Het
Kng1 T A 16: 22,898,170 (GRCm39) H523Q probably benign Het
Lrp4 T A 2: 91,325,339 (GRCm39) I1388N probably damaging Het
Mboat4 A G 8: 34,587,291 (GRCm39) I63V probably benign Het
Mcoln2 G A 3: 145,889,324 (GRCm39) probably null Het
Mgat5 A T 1: 127,339,924 (GRCm39) D435V probably damaging Het
Mri1 C A 8: 84,983,753 (GRCm39) R46L probably damaging Het
Mxra8 A T 4: 155,927,519 (GRCm39) Y409F probably benign Het
Nlrp1b T A 11: 71,062,901 (GRCm39) R720* probably null Het
Ofcc1 T C 13: 40,157,538 (GRCm39) I887V probably benign Het
Or5l13 T C 2: 87,780,056 (GRCm39) I174V probably benign Het
Otud4 T A 8: 80,399,391 (GRCm39) probably null Het
P3h1 T A 4: 119,104,358 (GRCm39) D626E probably benign Het
Pde2a A T 7: 101,153,857 (GRCm39) D485V probably damaging Het
Phldb2 G A 16: 45,577,539 (GRCm39) R1129* probably null Het
Pkn1 T C 8: 84,420,596 (GRCm39) E10G possibly damaging Het
Psd2 A G 18: 36,113,097 (GRCm39) D264G possibly damaging Het
Psg29 A G 7: 16,944,546 (GRCm39) D352G probably damaging Het
Rgs14 T C 13: 55,527,417 (GRCm39) S218P probably damaging Het
Sec14l2 T C 11: 4,048,379 (GRCm39) T380A probably benign Het
Septin12 T C 16: 4,806,226 (GRCm39) T312A unknown Het
Skint5 A T 4: 113,428,791 (GRCm39) V1075E unknown Het
Tmem106b A G 6: 13,081,564 (GRCm39) N157S probably damaging Het
Tmem132b G A 5: 125,699,737 (GRCm39) G133S probably damaging Het
Tmie A T 9: 110,699,749 (GRCm39) M55K possibly damaging Het
Trpc6 A T 9: 8,653,017 (GRCm39) R608* probably null Het
Unc93a2 G A 17: 7,644,021 (GRCm39) T96I probably damaging Het
Usp35 A G 7: 96,960,754 (GRCm39) S891P probably damaging Het
Vmn1r178 A G 7: 23,593,035 (GRCm39) T28A probably damaging Het
Wnk1 T A 6: 119,926,240 (GRCm39) M1324L probably benign Het
Wrnip1 C A 13: 32,986,616 (GRCm39) S132R possibly damaging Het
Wsb1 T C 11: 79,141,814 (GRCm39) K68E probably benign Het
Zfp433 A T 10: 81,556,040 (GRCm39) K181* probably null 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
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'- ATTTAGCTGCCCTGCTGAG -3'
(R):5'- AGCGTTCTAGGGGAAAAGTC -3'

Sequencing Primer
(F):5'- ACAGAAGACATATACTAGGTCATGG -3'
(R):5'- TTCTAGGGGAAAAGTCTTTGAAAGCC -3'
Posted On 2019-05-15