Incidental Mutation 'R9764:Stap2'
ID 733176
Institutional Source Beutler Lab
Gene Symbol Stap2
Ensembl Gene ENSMUSG00000038781
Gene Name signal transducing adaptor family member 2
Synonyms STAP-2
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9764 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 56304077-56312584 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 56309914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 79 (S79I)
Ref Sequence ENSEMBL: ENSMUSP00000038130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043785] [ENSMUST00000133998]
AlphaFold Q8R0L1
Predicted Effect probably damaging
Transcript: ENSMUST00000043785
AA Change: S79I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038130
Gene: ENSMUSG00000038781
AA Change: S79I

DomainStartEndE-ValueType
PH 20 120 1.22e-3 SMART
SH2 150 239 2.58e-3 SMART
low complexity region 278 297 N/A INTRINSIC
low complexity region 302 312 N/A INTRINSIC
low complexity region 343 365 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133998
SMART Domains Protein: ENSMUSP00000122480
Gene: ENSMUSG00000003199

DomainStartEndE-ValueType
low complexity region 88 101 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the substrate of breast tumor kinase, an Src-type non-receptor tyrosine kinase. The encoded protein possesses domains and several tyrosine phosphorylation sites characteristic of adaptor proteins that mediate the interactions linking proteins involved in signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and display no apparent abnormalities in most organs at the gross and histological level. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029F12Rik T C 13: 97,166,738 (GRCm39) T93A unknown Het
Adgrg6 T A 10: 14,302,515 (GRCm39) H938L probably benign Het
Aff1 A G 5: 103,997,365 (GRCm39) Y1153C probably damaging Het
Akr1c20 T A 13: 4,564,388 (GRCm39) I42L probably benign Het
Atad2b T A 12: 5,082,064 (GRCm39) N1324K probably benign Het
Aurka T A 2: 172,201,760 (GRCm39) I270F probably damaging Het
Camk2g A T 14: 20,815,498 (GRCm39) D189E probably damaging Het
Cc2d2b A G 19: 40,804,299 (GRCm39) D942G unknown Het
Ccnd1 A C 7: 144,491,770 (GRCm39) S90A probably benign Het
Cfap77 G T 2: 28,852,741 (GRCm39) T177K probably damaging Het
Chd9 A G 8: 91,721,220 (GRCm39) N1003D unknown Het
Chga C G 12: 102,525,613 (GRCm39) Q85E possibly damaging Het
Cnot1 T C 8: 96,496,209 (GRCm39) S322G probably benign Het
Cyp8b1 C A 9: 121,744,294 (GRCm39) S346I probably benign Het
Cysltr2 T A 14: 73,266,906 (GRCm39) H268L probably damaging Het
Dnah11 T C 12: 117,884,704 (GRCm39) T3783A probably benign Het
Dock3 C T 9: 106,959,713 (GRCm39) V109I probably benign Het
Dscc1 A G 15: 54,953,674 (GRCm39) C50R probably benign Het
Dtx3l T A 16: 35,753,277 (GRCm39) D443V probably damaging Het
Ephb6 A G 6: 41,592,911 (GRCm39) H383R probably benign Het
Fdft1 A G 14: 63,400,869 (GRCm39) I88T probably damaging Het
Fmo3 C A 1: 162,794,524 (GRCm39) W182L probably benign Het
Folh1 T A 7: 86,406,158 (GRCm39) Q305L probably benign Het
Gale C T 4: 135,692,975 (GRCm39) Q73* probably null Het
Gm9195 T C 14: 72,699,885 (GRCm39) M1154V unknown Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Gtsf1l T C 2: 162,929,052 (GRCm39) T144A probably benign Het
Itpkc T C 7: 26,927,222 (GRCm39) T231A probably benign Het
Kng2 C A 16: 22,822,737 (GRCm39) C205F probably damaging Het
Ldlrap1 T G 4: 134,476,661 (GRCm39) N244T probably benign Het
Lingo2 A G 4: 35,709,750 (GRCm39) F77L possibly damaging Het
Lpcat2b A T 5: 107,581,438 (GRCm39) T256S possibly damaging Het
Lrit2 A G 14: 36,790,936 (GRCm39) D205G probably damaging Het
Lrrc34 T C 3: 30,697,467 (GRCm39) D88G probably damaging Het
Macf1 T C 4: 123,366,136 (GRCm39) E2875G probably benign Het
Med13 G T 11: 86,177,345 (GRCm39) Q1584K possibly damaging Het
Naip5 C G 13: 100,367,269 (GRCm39) A276P probably damaging Het
Ndufv2 A G 17: 66,394,503 (GRCm39) Y121H probably damaging Het
Or4f52 T A 2: 111,061,521 (GRCm39) I206F probably damaging Het
Peg12 T C 7: 62,113,297 (GRCm39) T267A unknown Het
Pkig A G 2: 163,567,375 (GRCm39) probably null Het
Prkch C G 12: 73,747,078 (GRCm39) T319S probably benign Het
Rhobtb1 T C 10: 69,115,202 (GRCm39) S534P probably damaging Het
Riok2 A G 17: 17,607,814 (GRCm39) N454S probably benign Het
Ryr2 T A 13: 11,701,935 (GRCm39) K2907N possibly damaging Het
Sdc3 C T 4: 130,546,048 (GRCm39) P136S unknown Het
Slc37a3 G A 6: 39,322,844 (GRCm39) L371F probably damaging Het
Slc3a1 A T 17: 85,371,419 (GRCm39) H657L probably damaging Het
Slc7a13 T A 4: 19,819,033 (GRCm39) Y78N probably benign Het
Slfn8 G T 11: 82,907,838 (GRCm39) A235E probably damaging Het
Snap91 T A 9: 86,707,094 (GRCm39) D232V possibly damaging Het
Stra6l T C 4: 45,884,602 (GRCm39) V544A probably damaging Het
Syn2 T C 6: 115,251,219 (GRCm39) probably null Het
Tctn1 G A 5: 122,388,527 (GRCm39) P284S possibly damaging Het
Terb2 G A 2: 122,018,475 (GRCm39) M77I probably benign Het
Trim80 G T 11: 115,338,757 (GRCm39) R529L possibly damaging Het
Washc2 T C 6: 116,186,048 (GRCm39) L86P possibly damaging Het
Zfp74 A T 7: 29,631,845 (GRCm39) F133Y probably benign Het
Zfp987 T A 4: 146,060,752 (GRCm39) N61K probably benign Het
Other mutations in Stap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01578:Stap2 APN 17 56,304,623 (GRCm39) missense probably benign 0.00
IGL02087:Stap2 APN 17 56,312,473 (GRCm39) missense probably damaging 1.00
IGL02876:Stap2 APN 17 56,306,961 (GRCm39) missense probably benign 0.00
IGL03101:Stap2 APN 17 56,309,029 (GRCm39) missense probably damaging 1.00
R0033:Stap2 UTSW 17 56,306,976 (GRCm39) missense probably damaging 1.00
R0345:Stap2 UTSW 17 56,307,097 (GRCm39) missense probably damaging 0.98
R3405:Stap2 UTSW 17 56,304,511 (GRCm39) missense probably benign 0.30
R3406:Stap2 UTSW 17 56,304,511 (GRCm39) missense probably benign 0.30
R3929:Stap2 UTSW 17 56,310,156 (GRCm39) missense probably damaging 1.00
R4210:Stap2 UTSW 17 56,304,827 (GRCm39) nonsense probably null
R4543:Stap2 UTSW 17 56,304,604 (GRCm39) critical splice donor site probably null
R4934:Stap2 UTSW 17 56,304,901 (GRCm39) missense possibly damaging 0.69
R5748:Stap2 UTSW 17 56,307,475 (GRCm39) splice site probably null
R6228:Stap2 UTSW 17 56,306,976 (GRCm39) missense probably damaging 1.00
R6617:Stap2 UTSW 17 56,306,746 (GRCm39) missense probably benign
R7092:Stap2 UTSW 17 56,309,954 (GRCm39) missense probably benign 0.00
R7665:Stap2 UTSW 17 56,304,909 (GRCm39) missense probably benign 0.00
R7879:Stap2 UTSW 17 56,309,023 (GRCm39) missense probably benign 0.45
R8008:Stap2 UTSW 17 56,304,790 (GRCm39) missense probably benign 0.05
R8765:Stap2 UTSW 17 56,310,145 (GRCm39) missense probably damaging 1.00
R8930:Stap2 UTSW 17 56,304,895 (GRCm39) missense probably benign 0.00
R8932:Stap2 UTSW 17 56,304,895 (GRCm39) missense probably benign 0.00
R9444:Stap2 UTSW 17 56,307,907 (GRCm39) missense possibly damaging 0.55
Z1088:Stap2 UTSW 17 56,306,748 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGTGTCTTTATGCAGACCGG -3'
(R):5'- ATCCTTACCTAGGTGGGTGGAG -3'

Sequencing Primer
(F):5'- GGCCCCTTCAAAGTCATCTAGAGTC -3'
(R):5'- GGTCTGGGATTATGTCAGCAAAG -3'
Posted On 2022-11-14