Incidental Mutation 'IGL03189:Svs2'
ID412551
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Svs2
Ensembl Gene ENSMUSG00000040132
Gene Nameseminal vesicle secretory protein 2
Synonymssemenoclotin, SVS II
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03189
Quality Score
Status
Chromosome2
Chromosomal Location164235929-164238466 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 164237112 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 292 (S292P)
Ref Sequence ENSEMBL: ENSMUSP00000104999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044953] [ENSMUST00000109374]
Predicted Effect possibly damaging
Transcript: ENSMUST00000044953
AA Change: S292P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000042389
Gene: ENSMUSG00000040132
AA Change: S292P

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:SVS_QK 110 121 1.2e-6 PFAM
Pfam:SVS_QK 122 137 3.9e-3 PFAM
Pfam:SVS_QK 139 149 1.3e-5 PFAM
Pfam:SVS_QK 151 166 8.4e-4 PFAM
Pfam:SVS_QK 168 179 5.3e-6 PFAM
Pfam:SVS_QK 180 195 3.9e-3 PFAM
Pfam:SVS_QK 197 207 1.3e-5 PFAM
Pfam:SVS_QK 210 221 8.8e-5 PFAM
Pfam:SVS_QK 225 236 7.7e-6 PFAM
Pfam:SVS_QK 238 249 6.1e-6 PFAM
Pfam:SVS_QK 249 260 5.2e-4 PFAM
Pfam:SVS_QK 262 272 3.1e-5 PFAM
Pfam:SVS_QK 323 334 6.7e-5 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109374
AA Change: S292P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104999
Gene: ENSMUSG00000040132
AA Change: S292P

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:SVS_QK 110 121 1.2e-6 PFAM
Pfam:SVS_QK 122 137 3.9e-3 PFAM
Pfam:SVS_QK 139 149 1.3e-5 PFAM
Pfam:SVS_QK 151 166 8.4e-4 PFAM
Pfam:SVS_QK 168 179 5.3e-6 PFAM
Pfam:SVS_QK 180 195 3.9e-3 PFAM
Pfam:SVS_QK 197 207 1.3e-5 PFAM
Pfam:SVS_QK 210 221 8.8e-5 PFAM
Pfam:SVS_QK 225 236 7.7e-6 PFAM
Pfam:SVS_QK 238 249 6.1e-6 PFAM
Pfam:SVS_QK 249 260 5.2e-4 PFAM
Pfam:SVS_QK 262 272 3.1e-5 PFAM
Pfam:SVS_QK 323 334 6.7e-5 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Male mice homozygous for a null allele display severely reduced fertility with premature acrosome reaction, absence of copulatory plug formation and intrauterine death of sperm. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930412O13Rik A G 2: 9,883,823 probably benign Het
Abcb1b A G 5: 8,845,814 T916A probably benign Het
Adam22 A T 5: 8,111,897 Y50* probably null Het
Adprhl2 T C 4: 126,317,294 probably benign Het
Ahnak G A 19: 9,011,239 V3296M possibly damaging Het
Bfar A G 16: 13,687,501 D125G possibly damaging Het
Bmp3 A T 5: 98,872,720 Q334L probably benign Het
Camsap2 A T 1: 136,281,662 D697E probably damaging Het
Car11 A G 7: 45,702,455 T103A probably damaging Het
Cecr2 T A 6: 120,762,430 S1373T probably benign Het
Cenpm A G 15: 82,234,433 V160A possibly damaging Het
Chl1 A T 6: 103,683,207 I365F possibly damaging Het
Col20a1 C T 2: 181,009,407 Q1089* probably null Het
Csf1r A T 18: 61,105,986 T13S probably benign Het
Fam13a T C 6: 58,956,858 E249G probably damaging Het
Fgd6 G A 10: 94,044,456 V391I probably benign Het
Fhdc1 G A 3: 84,455,061 probably benign Het
Fn3krp T C 11: 121,429,630 I267T probably damaging Het
Fras1 A T 5: 96,743,071 I2820F probably benign Het
Fyb2 A G 4: 105,015,742 I771V probably damaging Het
Glis1 A G 4: 107,615,051 Y275C probably damaging Het
Hdgf A G 3: 87,913,428 T62A possibly damaging Het
Hsd17b3 C T 13: 64,063,087 probably null Het
Iqgap1 T A 7: 80,713,842 Y1655F probably benign Het
Izumo1 A G 7: 45,625,164 D181G probably damaging Het
Lrp2 T C 2: 69,438,478 probably benign Het
Mark1 T C 1: 184,919,693 N95S probably damaging Het
Mbd5 A G 2: 49,257,751 K658E probably damaging Het
Mcm6 C T 1: 128,344,302 D453N probably damaging Het
Mfsd14a T C 3: 116,641,855 D187G probably benign Het
Mrpl19 G T 6: 81,961,993 S276* probably null Het
Ncoa2 G A 1: 13,190,136 T105M probably damaging Het
Nop14 A G 5: 34,650,628 probably benign Het
Olfr1018 A G 2: 85,823,558 T196A probably benign Het
Olfr1152 G A 2: 87,868,215 A75T possibly damaging Het
Olfr170 T C 16: 19,606,591 T26A probably benign Het
Otud7b G A 3: 96,155,478 S678N probably benign Het
Pcdhb6 G A 18: 37,336,152 V25M probably damaging Het
Prpf39 G T 12: 65,043,302 G5* probably null Het
Serpinb9d T C 13: 33,202,912 V321A probably damaging Het
Sh2b1 A G 7: 126,468,530 S613P possibly damaging Het
Snx30 T C 4: 59,857,452 I55T probably benign Het
Spata13 T C 14: 60,691,614 I207T possibly damaging Het
Suco T C 1: 161,857,337 probably benign Het
Tcam1 A G 11: 106,285,386 I313V probably benign Het
Tmem45a A T 16: 56,811,573 Y227* probably null Het
Tnfsf15 A G 4: 63,730,052 probably benign Het
Ttc26 C T 6: 38,425,231 P553S probably benign Het
Vmn2r4 C A 3: 64,389,168 R732L possibly damaging Het
Wdr7 C T 18: 63,760,601 T602I probably benign Het
Other mutations in Svs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Svs2 APN 2 164237042 missense possibly damaging 0.86
IGL01722:Svs2 APN 2 164237526 missense possibly damaging 0.71
R1276:Svs2 UTSW 2 164237248 missense possibly damaging 0.95
R1541:Svs2 UTSW 2 164237009 missense possibly damaging 0.71
R1590:Svs2 UTSW 2 164237658 missense possibly damaging 0.86
R3946:Svs2 UTSW 2 164237127 missense probably benign 0.01
R3965:Svs2 UTSW 2 164237742 missense possibly damaging 0.53
R4075:Svs2 UTSW 2 164237318 missense probably benign 0.01
R4632:Svs2 UTSW 2 164237747 missense probably benign 0.40
R4732:Svs2 UTSW 2 164237123 missense possibly damaging 0.87
R4733:Svs2 UTSW 2 164237123 missense possibly damaging 0.87
R4839:Svs2 UTSW 2 164236886 missense probably benign 0.40
R5706:Svs2 UTSW 2 164237669 missense possibly damaging 0.53
R6936:Svs2 UTSW 2 164237628 missense possibly damaging 0.86
R7052:Svs2 UTSW 2 164238206 missense unknown
R7836:Svs2 UTSW 2 164237580 missense possibly damaging 0.86
R8035:Svs2 UTSW 2 164237133 missense probably benign 0.18
R8100:Svs2 UTSW 2 164237792 missense probably benign 0.08
R8187:Svs2 UTSW 2 164237772 missense possibly damaging 0.88
R8310:Svs2 UTSW 2 164238171 missense probably damaging 1.00
R8312:Svs2 UTSW 2 164238171 missense probably damaging 1.00
Posted On2016-08-02