Incidental Mutation 'IGL01526:Skap2'
ID89568
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Skap2
Ensembl Gene ENSMUSG00000059182
Gene Namesrc family associated phosphoprotein 2
SynonymsSaps, RA70, SKAP-HOM, mSKAP55R, 2610021A10Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01526
Quality Score
Status
Chromosome6
Chromosomal Location51857422-52012549 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 51907914 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 249 (D249N)
Ref Sequence ENSEMBL: ENSMUSP00000077342 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078214] [ENSMUST00000203948] [ENSMUST00000204778]
PDB Structure
Crystal Structure of a N-terminal Fragment of SKAP-Hom Containing Both the Helical Dimerization Domain and the PH Domain [X-RAY DIFFRACTION]
Crystal Structure of the PH Domain of SKAP-Hom with 8 Vector-derived N-terminal Residues [X-RAY DIFFRACTION]
Crystal Structure of the PH Domain of SKAP-Hom [X-RAY DIFFRACTION]
Crystal Structure of A N-terminal Fragment of SKAP-HOM Containing both the Helical Dimerization Domain and the PH Domain [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000078214
AA Change: D249N

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000077342
Gene: ENSMUSG00000059182
AA Change: D249N

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 probably benign
Transcript: ENSMUST00000203948
SMART Domains Protein: ENSMUSP00000145275
Gene: ENSMUSG00000059182

DomainStartEndE-ValueType
Blast:PH 1 49 1e-28 BLAST
PDB:1U5F|A 1 74 1e-30 PDB
SH3 83 126 3e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204178
Predicted Effect probably benign
Transcript: ENSMUST00000204778
AA Change: D256N

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000145462
Gene: ENSMUSG00000059182
AA Change: D256N

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
1500002C15Rik G T 4: 155,734,171 probably benign Het
4933430I17Rik G T 4: 62,532,621 R107L possibly damaging Het
9130204L05Rik T A 3: 91,088,305 probably benign Het
Acvr1 A T 2: 58,458,985 D388E probably benign Het
Art3 T C 5: 92,414,340 S354P probably damaging Het
Bpnt1 C A 1: 185,345,394 S102* probably null Het
C530008M17Rik T A 5: 76,857,631 M613K unknown Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Cfap65 A T 1: 74,911,078 S1171T probably damaging Het
Csn2 T C 5: 87,694,979 H47R possibly damaging Het
Gm14496 T A 2: 181,995,665 D177E probably benign Het
Hmbs A G 9: 44,339,548 V126A possibly damaging Het
Ica1l A G 1: 60,015,757 M105T probably damaging Het
Morc2a G A 11: 3,650,428 E17K probably benign Het
Mroh8 T C 2: 157,238,312 probably benign Het
Mroh9 G T 1: 163,055,603 L436I probably damaging Het
Nup54 T C 5: 92,417,475 D461G probably benign Het
Olfr1123 A T 2: 87,418,975 D309V probably damaging Het
Olfr315 A G 11: 58,778,297 T57A probably benign Het
Pcid2 G A 8: 13,085,319 probably benign Het
Ppp1r3b G T 8: 35,384,718 R237L probably benign Het
Prdm11 A G 2: 93,012,757 V119A probably damaging Het
Serpina5 T A 12: 104,101,890 V70E probably damaging Het
Slc22a29 A T 19: 8,207,178 probably benign Het
Slc4a1ap C A 5: 31,528,227 T283K possibly damaging Het
Slc6a21 T G 7: 45,287,796 I575S probably damaging Het
Smpd1 T G 7: 105,554,775 W82G probably benign Het
Snx14 T A 9: 88,381,500 M897L probably damaging Het
Tjp1 A G 7: 65,322,658 V586A probably damaging Het
Tmc8 T C 11: 117,792,084 probably benign Het
Trim34a A G 7: 104,260,499 Y298C probably damaging Het
Ube3c T C 5: 29,667,962 V1000A probably damaging Het
Other mutations in Skap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01462:Skap2 APN 6 51921300 missense probably damaging 1.00
IGL01543:Skap2 APN 6 52012395 missense possibly damaging 0.88
IGL01879:Skap2 APN 6 51996034 missense possibly damaging 0.90
IGL01893:Skap2 APN 6 51874576 missense probably damaging 1.00
IGL02154:Skap2 APN 6 52012328 splice site probably benign
IGL02406:Skap2 APN 6 51874473 critical splice donor site probably null
IGL02409:Skap2 APN 6 51907958 missense possibly damaging 0.51
IGL02937:Skap2 APN 6 51909371 missense probably benign 0.01
R0648:Skap2 UTSW 6 51879785 missense probably benign 0.05
R1465:Skap2 UTSW 6 51909368 missense probably benign 0.00
R1465:Skap2 UTSW 6 51909368 missense probably benign 0.00
R2370:Skap2 UTSW 6 51921330 missense probably damaging 1.00
R3837:Skap2 UTSW 6 51909299 critical splice donor site probably null
R4847:Skap2 UTSW 6 52003669 missense probably benign 0.01
R4939:Skap2 UTSW 6 51922323 missense possibly damaging 0.49
R5555:Skap2 UTSW 6 51860018 missense probably damaging 1.00
R7703:Skap2 UTSW 6 51907954 missense probably benign 0.00
R8176:Skap2 UTSW 6 51907898 missense probably damaging 1.00
R8317:Skap2 UTSW 6 51907885 critical splice donor site probably null
Z1176:Skap2 UTSW 6 51921280 missense probably null 1.00
Posted On2013-12-03