Incidental Mutation 'IGL01462:Skap2'
ID 88000
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 # IGL01462
Quality Score
Status
Chromosome 6
Chromosomal Location 51836145-51989529 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51898280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 150 (Y150C)
Ref Sequence ENSEMBL: ENSMUSP00000145462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078214] [ENSMUST00000204778]
AlphaFold Q3UND0
Predicted Effect probably damaging
Transcript: ENSMUST00000078214
AA Change: Y143C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000077342
Gene: ENSMUSG00000059182
AA Change: Y143C

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: ENSMUST00000204178
Predicted Effect probably damaging
Transcript: ENSMUST00000204778
AA Change: Y150C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145462
Gene: ENSMUSG00000059182
AA Change: Y150C

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 C A 6: 92,871,247 (GRCm39) A30S probably benign Het
Aspg A G 12: 112,089,387 (GRCm39) T392A probably benign Het
Atp8b5 C A 4: 43,368,010 (GRCm39) Q878K possibly damaging Het
Ccdc85a G T 11: 28,526,506 (GRCm39) H339Q probably damaging Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Cog4 C T 8: 111,592,717 (GRCm39) T430M probably benign Het
Col6a5 A G 9: 105,823,274 (GRCm39) Y28H unknown Het
Cth A T 3: 157,610,804 (GRCm39) Y343N probably damaging Het
Dctn3 A T 4: 41,719,854 (GRCm39) L84* probably null Het
Epha5 A T 5: 84,219,092 (GRCm39) I868N probably damaging Het
Ephb2 T C 4: 136,498,681 (GRCm39) N133D possibly damaging Het
Epor G A 9: 21,870,752 (GRCm39) P376L probably damaging Het
Gsdme A G 6: 50,204,354 (GRCm39) V201A possibly damaging Het
Hdgf G A 3: 87,821,831 (GRCm39) E149K possibly damaging Het
Lrrfip2 T C 9: 111,034,917 (GRCm39) probably null Het
Ly6g6d T C 17: 35,293,226 (GRCm39) I40V probably benign Het
Mlh3 G A 12: 85,313,510 (GRCm39) T892I probably benign Het
Mmp19 C T 10: 128,634,011 (GRCm39) T304I probably damaging Het
Mmp28 T C 11: 83,334,602 (GRCm39) D384G possibly damaging Het
Moxd1 T C 10: 24,120,286 (GRCm39) probably null Het
Mtcl3 T G 10: 29,024,254 (GRCm39) L390R probably damaging Het
Ncapg T C 5: 45,828,477 (GRCm39) V76A probably benign Het
Nos1 C T 5: 118,005,774 (GRCm39) R165C probably benign Het
Or1e1c T C 11: 73,265,578 (GRCm39) M1T probably null Het
Or2a57 A G 6: 43,212,559 (GRCm39) T6A possibly damaging Het
Pik3c2a T A 7: 115,975,485 (GRCm39) H694L possibly damaging Het
Psme2 A G 14: 55,827,128 (GRCm39) L60P probably damaging Het
Ptpn23 A G 9: 110,237,175 (GRCm39) V4A probably benign Het
Rgr G T 14: 36,766,566 (GRCm39) T160K probably damaging Het
Serpind1 A G 16: 17,154,787 (GRCm39) I205V probably benign Het
Srsf9 T C 5: 115,470,187 (GRCm39) S122P probably damaging Het
Stox1 T G 10: 62,500,461 (GRCm39) I700L probably benign Het
Tada1 A G 1: 166,216,294 (GRCm39) D165G probably damaging Het
Traf5 A G 1: 191,731,828 (GRCm39) S338P probably benign Het
Trim39 G A 17: 36,574,617 (GRCm39) probably benign Het
Wbp2 G A 11: 115,972,066 (GRCm39) A130V possibly damaging Het
Zcchc17 T C 4: 130,230,902 (GRCm39) K96E probably benign Het
Zfp800 G A 6: 28,242,983 (GRCm39) L661F possibly damaging Het
Other mutations in Skap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02154:Skap2 APN 6 51,989,308 (GRCm39) splice site probably benign
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 2013-11-18