Incidental Mutation 'R4939:Skap2'
ID 382910
Institutional Source Beutler Lab
Gene Symbol Skap2
Ensembl Gene ENSMUSG00000059182
Gene Name src family associated phosphoprotein 2
Synonyms 2610021A10Rik, Saps, RA70, SKAP-HOM, mSKAP55R
MMRRC Submission 042538-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4939 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 51836145-51989529 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 51899303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 109 (I109F)
Ref Sequence ENSEMBL: ENSMUSP00000145462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078214] [ENSMUST00000204778]
AlphaFold Q3UND0
Predicted Effect probably benign
Transcript: ENSMUST00000078214
AA Change: I102F

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000077342
Gene: ENSMUSG00000059182
AA Change: I102F

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 possibly damaging
Transcript: ENSMUST00000204778
AA Change: I109F

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000145462
Gene: ENSMUSG00000059182
AA Change: I109F

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A T 4: 86,161,962 (GRCm39) Y365F possibly damaging Het
Atp2a1 T C 7: 126,049,288 (GRCm39) M585V probably benign Het
Brca1 A G 11: 101,398,876 (GRCm39) V1572A probably benign Het
C1ql4 A T 15: 98,985,521 (GRCm39) M30K probably damaging Het
Ccdc73 A G 2: 104,822,502 (GRCm39) probably null Het
Cdk6 A T 5: 3,394,377 (GRCm39) D4V probably null Het
Celf3 ACAGCAGCAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCA 3: 94,395,537 (GRCm39) probably benign Het
Clic4 T C 4: 134,950,852 (GRCm39) E113G probably benign Het
Creld1 C A 6: 113,465,140 (GRCm39) H122Q probably benign Het
Cyp4a29 G A 4: 115,104,873 (GRCm39) probably null Het
Dnaaf3 A T 7: 4,530,144 (GRCm39) S246R probably damaging Het
Dnah12 A T 14: 26,613,481 (GRCm39) T3925S probably damaging Het
Dnajc21 T A 15: 10,449,683 (GRCm39) D446V probably damaging Het
Dock8 A T 19: 25,099,764 (GRCm39) Y629F probably damaging Het
Duxf4 T C 10: 58,071,425 (GRCm39) N263S probably benign Het
E2f8 A T 7: 48,521,886 (GRCm39) N405K probably benign Het
Flg A G 3: 93,187,154 (GRCm39) N202S probably benign Het
Glyatl3 A G 17: 41,220,914 (GRCm39) probably null Het
Gm38999 A G 7: 43,077,885 (GRCm39) T63A possibly damaging Het
Grap A G 11: 61,551,124 (GRCm39) Y52C probably damaging Het
Haus2 T A 2: 120,449,517 (GRCm39) I187K probably damaging Het
Heatr5b T C 17: 79,069,689 (GRCm39) E1686G probably benign Het
Herc2 A G 7: 55,856,484 (GRCm39) D3944G probably damaging Het
Hexd A T 11: 121,098,542 (GRCm39) M9L probably benign Het
Hoxa3 T C 6: 52,147,656 (GRCm39) probably benign Het
Hspg2 A T 4: 137,235,342 (GRCm39) I126F probably damaging Het
Itpr1 T A 6: 108,417,519 (GRCm39) C123* probably null Het
Jmjd1c T A 10: 67,081,916 (GRCm39) N2346K possibly damaging Het
Kctd9 A G 14: 67,967,135 (GRCm39) Y37C probably damaging Het
Kmt5b A C 19: 3,865,245 (GRCm39) S747R possibly damaging Het
Krt26 T C 11: 99,225,522 (GRCm39) M320V probably benign Het
Lama1 T G 17: 68,044,470 (GRCm39) V123G possibly damaging Het
Lamc2 T C 1: 153,002,582 (GRCm39) D1103G probably damaging Het
Lepr A T 4: 101,590,635 (GRCm39) K71I possibly damaging Het
Llgl1 A T 11: 60,600,805 (GRCm39) probably null Het
Mcoln2 A T 3: 145,897,996 (GRCm39) H39L probably benign Het
Mtrex T C 13: 113,046,426 (GRCm39) D308G possibly damaging Het
Myh11 T A 16: 14,057,371 (GRCm39) T315S probably benign Het
Ncapd3 T C 9: 26,975,165 (GRCm39) probably null Het
Nlrp9b G T 7: 19,758,421 (GRCm39) V553F probably damaging Het
Nubpl A G 12: 52,227,878 (GRCm39) N129S probably damaging Het
Nup214 C A 2: 31,873,171 (GRCm39) T255K probably benign Het
Or10j3 T C 1: 173,031,030 (GRCm39) Y36H possibly damaging Het
Or2t46 G T 11: 58,472,037 (GRCm39) M122I probably damaging Het
Or2y17 A G 11: 49,231,376 (GRCm39) T6A probably benign Het
Or4d1 G T 11: 87,804,950 (GRCm39) P261T probably damaging Het
Or52z14 T C 7: 103,253,458 (GRCm39) V199A probably benign Het
Or5b3 T A 19: 13,388,219 (GRCm39) N95K probably benign Het
Orc3 G A 4: 34,593,126 (GRCm39) Q256* probably null Het
Pbrm1 A G 14: 30,783,580 (GRCm39) M566V probably damaging Het
Pde6b A G 5: 108,569,363 (GRCm39) I357V probably benign Het
Pkdrej A G 15: 85,704,484 (GRCm39) I484T possibly damaging Het
Plvap A G 8: 71,964,083 (GRCm39) V93A probably benign Het
Plxna4 T C 6: 32,142,697 (GRCm39) Y1586C probably damaging Het
Ppfia4 A T 1: 134,255,817 (GRCm39) L196Q possibly damaging Het
Ptpn13 T G 5: 103,665,335 (GRCm39) probably null Het
Ranbp17 T C 11: 33,169,223 (GRCm39) N997S probably benign Het
Rpap2 G T 5: 107,751,491 (GRCm39) probably null Het
Rrm1 T C 7: 102,116,131 (GRCm39) V683A probably benign Het
Ruvbl1 A G 6: 88,460,021 (GRCm39) probably null Het
Sh3pxd2a A G 19: 47,266,843 (GRCm39) Y277H probably damaging Het
Shank1 C T 7: 43,975,586 (GRCm39) P477S unknown Het
Shtn1 T C 19: 59,010,633 (GRCm39) E278G probably benign Het
Slc28a3 A C 13: 58,706,395 (GRCm39) I615M probably benign Het
Slc4a11 A G 2: 130,526,788 (GRCm39) L780P probably damaging Het
Slc5a4b T C 10: 75,917,301 (GRCm39) E245G probably benign Het
Slfn8 C T 11: 82,894,111 (GRCm39) A843T probably benign Het
Sncaip A T 18: 53,040,335 (GRCm39) Q843L possibly damaging Het
Spidr T A 16: 15,958,610 (GRCm39) K51* probably null Het
Spopfm2 A T 3: 94,083,540 (GRCm39) Y90* probably null Het
Tas2r123 T C 6: 132,824,808 (GRCm39) V235A probably benign Het
Tgfbr3 T C 5: 107,278,335 (GRCm39) D757G probably benign Het
Tmem132d A T 5: 127,873,139 (GRCm39) V490D probably damaging Het
Top2a T A 11: 98,900,918 (GRCm39) H557L probably damaging Het
Trafd1 A G 5: 121,513,254 (GRCm39) I328T probably benign Het
Trappc11 G A 8: 47,972,700 (GRCm39) A291V probably damaging Het
Tuba1c A G 15: 98,935,835 (GRCm39) Y432C probably damaging Het
Utp11 T G 4: 124,577,043 (GRCm39) R109S possibly damaging Het
Vmn1r159 T G 7: 22,542,316 (GRCm39) T239P probably damaging Het
Vwce A T 19: 10,622,414 (GRCm39) N239Y probably damaging Het
Yes1 T C 5: 32,802,457 (GRCm39) probably null Het
Zfand6 A C 7: 84,265,030 (GRCm39) *224G probably null Het
Zfp408 A T 2: 91,475,450 (GRCm39) I668N probably damaging Het
Zfp647 TGCACG TGCACGCACG 15: 76,795,244 (GRCm39) probably null Het
Zfp946 T C 17: 22,674,418 (GRCm39) F391L probably 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
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
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
Predicted Primers PCR Primer
(F):5'- TGCCTAAAGAGAGTACTGCTTCC -3'
(R):5'- TGAGACAATCAGCTACAGCATAAG -3'

Sequencing Primer
(F):5'- GAGAGTACTGCTTCCATGACTATGC -3'
(R):5'- TCACTACTCAAGGTTTACAAGAAGGG -3'
Posted On 2016-04-27