Incidental Mutation 'IGL01543:Skap2'
ID90229
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 #IGL01543
Quality Score
Status
Chromosome6
Chromosomal Location51857422-52012549 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 52012395 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Tyrosine at position 3 (N3Y)
Ref Sequence ENSEMBL: ENSMUSP00000145462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078214] [ENSMUST00000204778]
Predicted Effect possibly damaging
Transcript: ENSMUST00000078214
AA Change: N3Y

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000077342
Gene: ENSMUSG00000059182
AA Change: N3Y

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 possibly damaging
Transcript: ENSMUST00000204778
AA Change: N3Y

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000145462
Gene: ENSMUSG00000059182
AA Change: N3Y

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 T C 3: 60,024,676 I204T probably benign Het
Abhd16a T C 17: 35,091,037 S69P probably damaging Het
Ampd1 C T 3: 103,095,713 T582I probably benign Het
Arap3 G A 18: 37,990,836 R377C probably damaging Het
Arid1a A T 4: 133,681,722 F1825I unknown Het
Asxl1 G A 2: 153,401,484 G1318D probably benign Het
B4galnt3 G A 6: 120,209,312 H807Y probably benign Het
Bpifb5 G T 2: 154,233,249 V366F possibly damaging Het
Caskin1 T C 17: 24,504,548 V770A probably benign Het
Ccdc152 G A 15: 3,298,124 T57I possibly damaging Het
Ccs T C 19: 4,834,241 E61G possibly damaging Het
Chsy3 G A 18: 59,410,400 W870* probably null Het
Col8a1 G A 16: 57,627,734 P471L unknown Het
Cyp2j6 A C 4: 96,525,924 V368G possibly damaging Het
Dnajc3 T C 14: 118,960,862 probably null Het
Dpep3 A T 8: 105,976,182 M316K probably damaging Het
Galntl5 A G 5: 25,195,351 E126G probably damaging Het
Gli1 T C 10: 127,332,478 N502S probably damaging Het
Hus1 A G 11: 9,000,082 L213P probably benign Het
Hypk A G 2: 121,457,295 probably null Het
Igkv4-59 T A 6: 69,438,361 Y70F probably damaging Het
Impdh1 A C 6: 29,203,378 V14G probably damaging Het
Kif26b A G 1: 178,678,961 M201V probably benign Het
Macf1 A G 4: 123,401,457 I5323T probably damaging Het
Mmp16 C T 4: 18,051,743 A244V probably damaging Het
Obscn T C 11: 59,042,117 D5619G probably benign Het
Olfr704 T C 7: 106,865,918 S313P probably benign Het
Pcdh7 T C 5: 57,720,765 V554A probably damaging Het
Piezo2 T C 18: 63,070,030 E1513G probably damaging Het
Rab6b A G 9: 103,162,638 D75G probably damaging Het
Ryr1 T C 7: 29,091,076 Y1435C probably damaging Het
Scarf2 A G 16: 17,802,549 N81S probably damaging Het
Six5 G A 7: 19,096,347 A300T possibly damaging Het
Skint6 A T 4: 112,899,963 S734T probably benign Het
Slc15a4 A C 5: 127,603,766 H396Q probably benign Het
Slco6c1 A G 1: 97,125,828 M116T possibly damaging Het
Slfn9 T C 11: 82,987,949 D118G probably benign Het
Trim3 T C 7: 105,613,313 D546G probably damaging Het
Trpa1 A G 1: 14,900,076 L362P probably damaging Het
Vasn A G 16: 4,649,892 T568A possibly damaging Het
Vwa5b2 A G 16: 20,595,716 M281V probably benign Het
Wwp2 A G 8: 107,483,368 E126G probably damaging Het
Zfp398 G A 6: 47,866,063 G350S probably damaging Het
Other mutations in Skap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01462:Skap2 APN 6 51921300 missense probably damaging 1.00
IGL01526:Skap2 APN 6 51907914 missense probably benign 0.20
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
Posted On2013-12-03