Incidental Mutation 'IGL02087:Stap2'
ID 279293
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stap2
Ensembl Gene ENSMUSG00000038781
Gene Name signal transducing adaptor family member 2
Synonyms STAP-2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02087
Quality Score
Status
Chromosome 17
Chromosomal Location 56304077-56312584 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56312473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 20 (H20R)
Ref Sequence ENSEMBL: ENSMUSP00000038130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043785] [ENSMUST00000133998] [ENSMUST00000149441] [ENSMUST00000159996] [ENSMUST00000162883]
AlphaFold Q8R0L1
Predicted Effect probably damaging
Transcript: ENSMUST00000043785
AA Change: H20R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038130
Gene: ENSMUSG00000038781
AA Change: H20R

DomainStartEndE-ValueType
PH 20 120 1.22e-3 SMART
SH2 150 239 2.58e-3 SMART
low complexity region 278 297 N/A INTRINSIC
low complexity region 302 312 N/A INTRINSIC
low complexity region 343 365 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124302
Predicted Effect probably benign
Transcript: ENSMUST00000133998
SMART Domains Protein: ENSMUSP00000122480
Gene: ENSMUSG00000003199

DomainStartEndE-ValueType
low complexity region 88 101 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140926
Predicted Effect probably benign
Transcript: ENSMUST00000149441
SMART Domains Protein: ENSMUSP00000119745
Gene: ENSMUSG00000003199

DomainStartEndE-ValueType
low complexity region 13 30 N/A INTRINSIC
low complexity region 32 71 N/A INTRINSIC
low complexity region 172 185 N/A INTRINSIC
JAB_MPN 260 382 1.35e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153197
SMART Domains Protein: ENSMUSP00000125535
Gene: ENSMUSG00000003199

DomainStartEndE-ValueType
low complexity region 30 43 N/A INTRINSIC
Pfam:JAB 112 243 6.1e-11 PFAM
Pfam:Prok-JAB 125 258 1.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159340
SMART Domains Protein: ENSMUSP00000125555
Gene: ENSMUSG00000003199

DomainStartEndE-ValueType
low complexity region 10 27 N/A INTRINSIC
low complexity region 29 68 N/A INTRINSIC
low complexity region 169 182 N/A INTRINSIC
Blast:JAB_MPN 257 350 3e-55 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000159996
SMART Domains Protein: ENSMUSP00000124644
Gene: ENSMUSG00000003199

DomainStartEndE-ValueType
low complexity region 13 30 N/A INTRINSIC
low complexity region 32 71 N/A INTRINSIC
low complexity region 172 185 N/A INTRINSIC
JAB_MPN 260 382 1.35e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162883
SMART Domains Protein: ENSMUSP00000124128
Gene: ENSMUSG00000003199

DomainStartEndE-ValueType
low complexity region 13 30 N/A INTRINSIC
low complexity region 32 71 N/A INTRINSIC
low complexity region 172 185 N/A INTRINSIC
Pfam:Prok-JAB 230 340 1.6e-8 PFAM
Pfam:JAB 236 311 1.7e-9 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 the substrate of breast tumor kinase, an Src-type non-receptor tyrosine kinase. The encoded protein possesses domains and several tyrosine phosphorylation sites characteristic of adaptor proteins that mediate the interactions linking proteins involved in signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and display no apparent abnormalities in most organs at the gross and histological level. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asl C T 5: 130,040,442 (GRCm39) W450* probably null Het
Copg1 T C 6: 87,879,192 (GRCm39) Y413H possibly damaging Het
Ctsll3 G T 13: 60,947,423 (GRCm39) H254Q possibly damaging Het
Ebf2 A G 14: 67,665,545 (GRCm39) T568A probably benign Het
Etnppl C A 3: 130,420,194 (GRCm39) S8R probably benign Het
Fry C A 5: 150,327,059 (GRCm39) N1248K probably benign Het
Gpr55 A C 1: 85,868,969 (GRCm39) I204S probably damaging Het
Hyal5 T A 6: 24,876,724 (GRCm39) M199K probably damaging Het
Ighg2c T C 12: 113,248,986 (GRCm39) probably benign Het
Itga4 A G 2: 79,122,413 (GRCm39) D542G probably damaging Het
Itgb2 T G 10: 77,395,530 (GRCm39) Y544D possibly damaging Het
Lamb2 A G 9: 108,364,318 (GRCm39) N1086D possibly damaging Het
Lhx2 C T 2: 38,258,849 (GRCm39) probably benign Het
Nlrp4c T G 7: 6,095,582 (GRCm39) L820R probably damaging Het
Or5p68 T A 7: 107,946,173 (GRCm39) H5L probably benign Het
Phf20l1 C T 15: 66,500,840 (GRCm39) S578F probably damaging Het
Pramel23 A T 4: 143,423,644 (GRCm39) Y382N probably damaging Het
Ptpn3 A T 4: 57,222,019 (GRCm39) D557E probably damaging Het
Slc6a6 G A 6: 91,712,160 (GRCm39) V230I probably benign Het
Sult1c2 T C 17: 54,279,068 (GRCm39) T83A possibly damaging Het
Tspyl2 A T X: 151,122,103 (GRCm39) D501E probably damaging Het
Unc13b A G 4: 43,091,270 (GRCm39) K32R probably null Het
Wnt3 G A 11: 103,703,185 (GRCm39) A223T probably benign Het
Zfpm2 A T 15: 40,966,517 (GRCm39) N869Y probably damaging Het
Zranb1 T C 7: 132,575,146 (GRCm39) probably benign Het
Other mutations in Stap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01578:Stap2 APN 17 56,304,623 (GRCm39) missense probably benign 0.00
IGL02876:Stap2 APN 17 56,306,961 (GRCm39) missense probably benign 0.00
IGL03101:Stap2 APN 17 56,309,029 (GRCm39) missense probably damaging 1.00
R0033:Stap2 UTSW 17 56,306,976 (GRCm39) missense probably damaging 1.00
R0345:Stap2 UTSW 17 56,307,097 (GRCm39) missense probably damaging 0.98
R3405:Stap2 UTSW 17 56,304,511 (GRCm39) missense probably benign 0.30
R3406:Stap2 UTSW 17 56,304,511 (GRCm39) missense probably benign 0.30
R3929:Stap2 UTSW 17 56,310,156 (GRCm39) missense probably damaging 1.00
R4210:Stap2 UTSW 17 56,304,827 (GRCm39) nonsense probably null
R4543:Stap2 UTSW 17 56,304,604 (GRCm39) critical splice donor site probably null
R4934:Stap2 UTSW 17 56,304,901 (GRCm39) missense possibly damaging 0.69
R5748:Stap2 UTSW 17 56,307,475 (GRCm39) splice site probably null
R6228:Stap2 UTSW 17 56,306,976 (GRCm39) missense probably damaging 1.00
R6617:Stap2 UTSW 17 56,306,746 (GRCm39) missense probably benign
R7092:Stap2 UTSW 17 56,309,954 (GRCm39) missense probably benign 0.00
R7665:Stap2 UTSW 17 56,304,909 (GRCm39) missense probably benign 0.00
R7879:Stap2 UTSW 17 56,309,023 (GRCm39) missense probably benign 0.45
R8008:Stap2 UTSW 17 56,304,790 (GRCm39) missense probably benign 0.05
R8765:Stap2 UTSW 17 56,310,145 (GRCm39) missense probably damaging 1.00
R8930:Stap2 UTSW 17 56,304,895 (GRCm39) missense probably benign 0.00
R8932:Stap2 UTSW 17 56,304,895 (GRCm39) missense probably benign 0.00
R9444:Stap2 UTSW 17 56,307,907 (GRCm39) missense possibly damaging 0.55
R9764:Stap2 UTSW 17 56,309,914 (GRCm39) missense probably damaging 1.00
Z1088:Stap2 UTSW 17 56,306,748 (GRCm39) missense probably benign
Posted On 2015-04-16