Incidental Mutation 'IGL03145:Sv2c'
ID410885
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sv2c
Ensembl Gene ENSMUSG00000051111
Gene Namesynaptic vesicle glycoprotein 2c
Synonyms4930527L09Rik
Accession Numbers

Genbank: NM_029210; MGI: 1922459

Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL03145
Quality Score
Status
Chromosome13
Chromosomal Location95954594-96132577 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 95989098 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 377 (V377A)
Ref Sequence ENSEMBL: ENSMUSP00000124473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000161263] [ENSMUST00000182289]
Predicted Effect probably damaging
Transcript: ENSMUST00000161263
AA Change: V377A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124473
Gene: ENSMUSG00000051111
AA Change: V377A

DomainStartEndE-ValueType
low complexity region 51 61 N/A INTRINSIC
Pfam:Sugar_tr 117 428 9.1e-31 PFAM
Pfam:MFS_1 154 470 5e-27 PFAM
Pfam:Pentapeptide_4 496 573 4.8e-12 PFAM
Pfam:MFS_1 564 725 1.5e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182180
Predicted Effect probably damaging
Transcript: ENSMUST00000182289
AA Change: V377A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138317
Gene: ENSMUSG00000051111
AA Change: V377A

DomainStartEndE-ValueType
low complexity region 51 61 N/A INTRINSIC
Pfam:Sugar_tr 119 427 2.2e-30 PFAM
Pfam:MFS_1 154 470 5e-27 PFAM
Pfam:Pentapeptide_4 496 571 6.2e-15 PFAM
transmembrane domain 581 603 N/A INTRINSIC
transmembrane domain 610 632 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220740
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypoactivity and increased anxiety-related response. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, other(2) Gene trapped(1)

Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik A G 10: 21,593,438 D17G probably damaging Het
Adam39 C T 8: 40,824,658 P29S probably benign Het
Afap1l1 T C 18: 61,741,809 K434E possibly damaging Het
Akap7 T C 10: 25,239,667 T187A probably damaging Het
Atp7b A C 8: 22,018,143 I479S probably damaging Het
Cdh23 T A 10: 60,376,814 E1606V probably damaging Het
Cnga3 A G 1: 37,261,674 S530G probably damaging Het
Col13a1 A G 10: 61,891,261 Y228H probably benign Het
Cybb C A X: 9,453,653 E203* probably null Het
Dnah6 A T 6: 73,041,054 M3594K probably damaging Het
Galnt14 C A 17: 73,504,908 Q439H possibly damaging Het
Gck T A 11: 5,909,093 D158V probably damaging Het
Gm5624 A G 14: 44,560,765 M85T possibly damaging Het
Hgsnat A T 8: 25,946,452 N557K probably damaging Het
Idua A G 5: 108,681,496 T388A probably benign Het
Itgam A G 7: 128,113,019 D692G probably benign Het
Lrrtm3 A G 10: 64,089,020 Y123H probably benign Het
Mccc1 C T 3: 35,968,446 R566H probably benign Het
Myh7 A T 14: 54,983,345 L999Q probably damaging Het
Myo6 T G 9: 80,300,665 Y1146* probably null Het
Nr3c1 C A 18: 39,486,260 G325W probably damaging Het
Olfr458 A G 6: 42,460,500 V173A probably benign Het
Olfr497 T A 7: 108,422,599 H9Q probably benign Het
Olfr862 T A 9: 19,883,439 I289F possibly damaging Het
Phf1 T C 17: 26,934,370 probably null Het
Piezo1 T C 8: 122,482,921 T2349A probably benign Het
Pih1d1 T C 7: 45,159,121 probably null Het
Pold3 A G 7: 100,096,512 S145P probably damaging Het
Prpf38b G T 3: 108,903,945 probably benign Het
Racgap1 A T 15: 99,623,640 M545K probably benign Het
Safb T C 17: 56,605,287 Y802H probably damaging Het
Serpina3f A T 12: 104,217,457 M193L probably benign Het
Slc43a2 G A 11: 75,568,437 V432M probably benign Het
Spata2l T C 8: 123,233,336 R405G possibly damaging Het
Tbc1d15 C T 10: 115,202,516 M597I probably benign Het
Tenm4 A T 7: 96,842,968 R1036S probably damaging Het
Tjp3 A G 10: 81,283,688 Y15H probably benign Het
Tkt A G 14: 30,560,688 probably benign Het
Tpm2 T C 4: 43,519,447 E145G probably damaging Het
Trib2 G A 12: 15,809,931 H110Y probably damaging Het
Trim60 A T 8: 65,000,572 S342T probably damaging Het
Ube2o T C 11: 116,544,009 E542G probably damaging Het
Usp36 T C 11: 118,279,241 D218G probably damaging Het
Zfp407 A G 18: 84,209,721 L1921P probably damaging Het
Zfp983 G T 17: 21,659,008 M42I probably damaging Het
Other mutations in Sv2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:Sv2c APN 13 96048429 missense probably damaging 1.00
IGL01313:Sv2c APN 13 96088289 missense probably damaging 1.00
IGL02710:Sv2c APN 13 95989141 missense probably damaging 0.99
IGL02990:Sv2c APN 13 96088378 missense probably damaging 1.00
D4043:Sv2c UTSW 13 96088481 missense probably benign 0.27
R0390:Sv2c UTSW 13 96088708 missense probably benign
R0849:Sv2c UTSW 13 95989811 missense probably damaging 1.00
R0907:Sv2c UTSW 13 96088255 missense probably damaging 1.00
R1177:Sv2c UTSW 13 95989763 missense possibly damaging 0.79
R1840:Sv2c UTSW 13 95981844 missense probably benign 0.08
R1865:Sv2c UTSW 13 95976775 missense probably benign 0.29
R1959:Sv2c UTSW 13 95976645 missense probably damaging 1.00
R2440:Sv2c UTSW 13 96048576 missense probably damaging 1.00
R4007:Sv2c UTSW 13 95986833 splice site probably benign
R4197:Sv2c UTSW 13 95978128 missense probably damaging 1.00
R4697:Sv2c UTSW 13 95986018 missense possibly damaging 0.64
R4719:Sv2c UTSW 13 95986811 missense probably benign 0.21
R4822:Sv2c UTSW 13 95985949 missense probably damaging 1.00
R5237:Sv2c UTSW 13 95981883 missense possibly damaging 0.76
R5452:Sv2c UTSW 13 95978083 missense probably damaging 1.00
R5531:Sv2c UTSW 13 95961378 missense probably damaging 0.98
R5756:Sv2c UTSW 13 95985967 missense probably benign
R5982:Sv2c UTSW 13 95976063 nonsense probably null
R6220:Sv2c UTSW 13 95976626 missense probably damaging 1.00
R6511:Sv2c UTSW 13 96048525 missense probably benign 0.00
R6520:Sv2c UTSW 13 95986721 missense probably benign
R7001:Sv2c UTSW 13 95981953 missense probably benign 0.11
R7073:Sv2c UTSW 13 96088250 missense probably damaging 1.00
R7116:Sv2c UTSW 13 95976644 missense probably damaging 1.00
R7261:Sv2c UTSW 13 96088301 missense probably damaging 1.00
R7374:Sv2c UTSW 13 95989136 missense probably damaging 1.00
R7423:Sv2c UTSW 13 96048548 missense probably benign 0.03
R7626:Sv2c UTSW 13 95985943 missense probably benign 0.13
R7727:Sv2c UTSW 13 95976695 missense possibly damaging 0.89
R7767:Sv2c UTSW 13 95989715 missense probably damaging 1.00
R7818:Sv2c UTSW 13 95986820 nonsense probably null
Posted On2016-08-02