Incidental Mutation 'IGL02154:Skap2'
ID 282178
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Skap2
Ensembl Gene ENSMUSG00000059182
Gene Name src family associated phosphoprotein 2
Synonyms 2610021A10Rik, Saps, RA70, SKAP-HOM, mSKAP55R
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02154
Quality Score
Status
Chromosome 6
Chromosomal Location 51836145-51989529 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 51989308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078214] [ENSMUST00000204778]
AlphaFold Q3UND0
Predicted Effect probably benign
Transcript: ENSMUST00000078214
SMART Domains Protein: ENSMUSP00000077342
Gene: ENSMUSG00000059182

DomainStartEndE-ValueType
PH 117 221 6.11e-18 SMART
low complexity region 254 269 N/A INTRINSIC
SH3 299 356 1.71e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203313
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203453
Predicted Effect probably benign
Transcript: ENSMUST00000204778
SMART Domains Protein: ENSMUSP00000145462
Gene: ENSMUSG00000059182

DomainStartEndE-ValueType
PH 117 221 6.11e-18 SMART
low complexity region 254 269 N/A INTRINSIC
SH3 299 356 1.71e-15 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares homology with Src kinase-associated phosphoprotein 1, and is a substrate of Src family kinases. It is an adaptor protein that is thought to play an essential role in the Src signaling pathway, and in regulating proper activation of the immune system. This protein contains an amino terminal coiled-coil domain for self-dimerization, a plecskstrin homology (PH) domain required for interactions with lipids at the membrane, and a Src homology (SH3) domain at the carboxy terminus. Some reports indicate that this protein inhibits actin polymerization through interactions with actin assembly factors, and might negatively regulate the invasiveness of tumors by modulating actin assembly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a null allele are embryonic lethal. Homozygotes for a gene-trapped allele show impaired B-cell responses and B-cell adhesion, decreased susceptibility to EAE, abnormal dendritic cell physiology, fast extinction of fear memory, and impaired social memory. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Armh4 G A 14: 50,010,399 (GRCm39) T436I possibly damaging Het
AW551984 G A 9: 39,500,398 (GRCm39) R787C possibly damaging Het
Cadm1 A T 9: 47,725,201 (GRCm39) I321L probably benign Het
Cfap57 A G 4: 118,470,214 (GRCm39) L222P probably damaging Het
Cox20 A G 1: 178,150,119 (GRCm39) I98V probably benign Het
Dmrta1 A G 4: 89,580,150 (GRCm39) N370S probably benign Het
Dnah17 A G 11: 118,015,087 (GRCm39) F386L probably benign Het
Fam135b T C 15: 71,320,559 (GRCm39) I1323V probably benign Het
Fndc3b A G 3: 27,592,266 (GRCm39) S211P probably damaging Het
Galnt10 T G 11: 57,675,531 (GRCm39) L597V probably damaging Het
Gtf2e2 T C 8: 34,245,989 (GRCm39) probably null Het
Inpp4b T A 8: 82,696,130 (GRCm39) probably benign Het
Irag2 T G 6: 145,083,967 (GRCm39) M44R possibly damaging Het
Lacc1 A G 14: 77,270,727 (GRCm39) V269A probably benign Het
Mdn1 A G 4: 32,740,395 (GRCm39) D3750G probably benign Het
Mme A T 3: 63,250,976 (GRCm39) Q339L probably benign Het
Mmp3 A T 9: 7,453,662 (GRCm39) I428L probably benign Het
Myrf A T 19: 10,193,482 (GRCm39) I558N probably damaging Het
Or52e8 C T 7: 104,625,188 (GRCm39) M1I probably null Het
Phb1 A G 11: 95,565,997 (GRCm39) I94V possibly damaging Het
Prg4 T A 1: 150,330,613 (GRCm39) probably benign Het
Sirpb1a T C 3: 15,475,504 (GRCm39) T344A probably damaging Het
Slc29a1 A G 17: 45,897,089 (GRCm39) I399T probably damaging Het
Sorl1 C T 9: 41,915,330 (GRCm39) V1300I probably benign Het
Tas2r117 T C 6: 132,780,678 (GRCm39) V272A probably benign Het
Tctn2 C A 5: 124,746,624 (GRCm39) noncoding transcript Het
Tmem51 T C 4: 141,759,089 (GRCm39) N220D probably damaging Het
Trak2 T C 1: 58,947,888 (GRCm39) D584G probably damaging Het
Vmn1r78 A G 7: 11,886,472 (GRCm39) I28V probably benign Het
Vmn2r95 A C 17: 18,672,248 (GRCm39) I662L probably benign Het
Vwa8 C A 14: 79,086,733 (GRCm39) R4S possibly damaging Het
Other mutations in Skap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01462:Skap2 APN 6 51,898,280 (GRCm39) missense probably damaging 1.00
IGL01526:Skap2 APN 6 51,884,894 (GRCm39) missense probably benign 0.20
IGL01543:Skap2 APN 6 51,989,375 (GRCm39) missense possibly damaging 0.88
IGL01879:Skap2 APN 6 51,973,014 (GRCm39) missense possibly damaging 0.90
IGL01893:Skap2 APN 6 51,851,556 (GRCm39) missense probably damaging 1.00
IGL02406:Skap2 APN 6 51,851,453 (GRCm39) critical splice donor site probably null
IGL02409:Skap2 APN 6 51,884,938 (GRCm39) missense possibly damaging 0.51
IGL02937:Skap2 APN 6 51,886,351 (GRCm39) missense probably benign 0.01
R0648:Skap2 UTSW 6 51,856,765 (GRCm39) missense probably benign 0.05
R1465:Skap2 UTSW 6 51,886,348 (GRCm39) missense probably benign 0.00
R1465:Skap2 UTSW 6 51,886,348 (GRCm39) missense probably benign 0.00
R2370:Skap2 UTSW 6 51,898,310 (GRCm39) missense probably damaging 1.00
R3837:Skap2 UTSW 6 51,886,279 (GRCm39) critical splice donor site probably null
R4847:Skap2 UTSW 6 51,980,649 (GRCm39) missense probably benign 0.01
R4939:Skap2 UTSW 6 51,899,303 (GRCm39) missense possibly damaging 0.49
R5555:Skap2 UTSW 6 51,836,998 (GRCm39) missense probably damaging 1.00
R7703:Skap2 UTSW 6 51,884,934 (GRCm39) missense probably benign 0.00
R8176:Skap2 UTSW 6 51,884,878 (GRCm39) missense probably damaging 1.00
R8317:Skap2 UTSW 6 51,884,865 (GRCm39) critical splice donor site probably null
R9072:Skap2 UTSW 6 51,856,750 (GRCm39) critical splice donor site probably null
R9073:Skap2 UTSW 6 51,856,750 (GRCm39) critical splice donor site probably null
R9143:Skap2 UTSW 6 51,885,409 (GRCm39) missense probably benign 0.02
Z1176:Skap2 UTSW 6 51,898,260 (GRCm39) missense probably null 1.00
Posted On 2015-04-16