Incidental Mutation 'R6490:Stam2'
ID 522724
Institutional Source Beutler Lab
Gene Symbol Stam2
Ensembl Gene ENSMUSG00000055371
Gene Name signal transducing adaptor molecule (SH3 domain and ITAM motif) 2
Synonyms 1200004O12Rik, 5730456G07Rik, Hbp
MMRRC Submission 044622-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6490 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 52582213-52632212 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52610954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 23 (T23A)
Ref Sequence ENSEMBL: ENSMUSP00000121898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102759] [ENSMUST00000127316] [ENSMUST00000138290] [ENSMUST00000155516]
AlphaFold O88811
PDB Structure Crystal Structure of STAM2 SH3 domain in complex with a UBPY-derived peptide [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000102759
AA Change: T23A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099820
Gene: ENSMUSG00000055371
AA Change: T23A

DomainStartEndE-ValueType
VHS 9 140 6.36e-57 SMART
UIM 165 184 3.24e-3 SMART
SH3 205 260 5.69e-21 SMART
Pfam:GAT 294 367 2.3e-8 PFAM
low complexity region 502 515 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127316
AA Change: T23A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000121898
Gene: ENSMUSG00000055371
AA Change: T23A

DomainStartEndE-ValueType
Pfam:VHS 4 70 8.5e-20 PFAM
UIM 132 151 3.24e-3 SMART
SH3 172 227 5.69e-21 SMART
PDB:3F1I|C 258 334 4e-29 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000138290
SMART Domains Protein: ENSMUSP00000114620
Gene: ENSMUSG00000055371

DomainStartEndE-ValueType
Pfam:VHS 1 65 7.8e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150582
Predicted Effect probably benign
Transcript: ENSMUST00000155516
Meta Mutation Damage Score 0.0716 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 99% (69/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is closely related to STAM, an adaptor protein involved in the downstream signaling of cytokine receptors, both of which contain a SH3 domain and the immunoreceptor tyrosine-based activation motif (ITAM). Similar to STAM, this protein acts downstream of JAK kinases, and is phosphorylated in response to cytokine stimulation. This protein and STAM thus are thought to exhibit compensatory effects on the signaling pathway downstream of JAK kinases upon cytokine stimulation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal lymphocyte responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik T G 8: 122,267,293 (GRCm39) K38T probably benign Het
Abca13 A G 11: 9,248,661 (GRCm39) T2803A probably benign Het
Adam23 A G 1: 63,596,613 (GRCm39) D565G probably damaging Het
Adcy3 A G 12: 4,262,150 (GRCm39) T1067A probably damaging Het
Agrn A T 4: 156,251,819 (GRCm39) Y1921* probably null Het
Apc2 A G 10: 80,149,757 (GRCm39) N1604D probably benign Het
Atxn7 A T 14: 14,089,446 (GRCm38) R321* probably null Het
Axin1 T A 17: 26,361,968 (GRCm39) I104N probably damaging Het
Bahd1 T C 2: 118,747,619 (GRCm39) S413P probably benign Het
Baz2b C T 2: 59,732,073 (GRCm39) C2024Y probably damaging Het
Cacna1i T A 15: 80,262,448 (GRCm39) V1388E probably damaging Het
Ces4a G A 8: 105,876,090 (GRCm39) V544M probably benign Het
Cntn3 G A 6: 102,255,301 (GRCm39) T199I probably damaging Het
Col6a4 A T 9: 105,952,191 (GRCm39) L569* probably null Het
Ctnna2 A G 6: 77,120,892 (GRCm39) I12T probably benign Het
Dhx37 A G 5: 125,496,196 (GRCm39) M754T probably benign Het
Dmrt1 T A 19: 25,523,395 (GRCm39) S249T possibly damaging Het
Ell G T 8: 71,025,553 (GRCm39) S59I probably damaging Het
Fam89a G A 8: 125,467,982 (GRCm39) S110F probably damaging Het
Fer1l4 A C 2: 155,889,834 (GRCm39) F278V possibly damaging Het
Fyn T C 10: 39,427,398 (GRCm39) I427T probably damaging Het
Galnt14 T C 17: 73,832,365 (GRCm39) D250G probably damaging Het
Glp1r T C 17: 31,143,546 (GRCm39) V194A probably damaging Het
Glt1d1 T A 5: 127,721,360 (GRCm39) probably null Het
Gm7995 A G 14: 42,133,327 (GRCm39) K69R probably benign Het
Grip1 A G 10: 119,822,329 (GRCm39) T379A possibly damaging Het
Gtpbp2 G T 17: 46,479,147 (GRCm39) A570S probably benign Het
Hmcn1 T C 1: 150,459,029 (GRCm39) I5192V probably benign Het
Igfl3 A T 7: 17,913,844 (GRCm39) I65F possibly damaging Het
Igsf10 G T 3: 59,236,992 (GRCm39) T1063K probably benign Het
Itfg1 A G 8: 86,466,930 (GRCm39) V381A probably benign Het
Itprid1 A G 6: 55,953,405 (GRCm39) D907G probably damaging Het
Jmjd8 T A 17: 26,048,086 (GRCm39) V16E probably benign Het
Kank1 A G 19: 25,387,449 (GRCm39) Y374C probably damaging Het
Kcnma1 C T 14: 23,386,165 (GRCm39) V891I possibly damaging Het
Kif20a C A 18: 34,762,543 (GRCm39) T472K possibly damaging Het
Klhl32 A T 4: 24,711,578 (GRCm39) probably benign Het
Lrrc37a A G 11: 103,347,486 (GRCm39) S3070P unknown Het
Mettl21e T G 1: 44,249,425 (GRCm39) Y77S probably damaging Het
Mlst8 G T 17: 24,696,935 (GRCm39) D82E probably benign Het
Mrgprx2 A T 7: 48,132,617 (GRCm39) L67Q probably damaging Het
Mylk T A 16: 34,750,237 (GRCm39) L1192Q possibly damaging Het
Myt1l A T 12: 29,882,365 (GRCm39) Y520F unknown Het
Naip2 A T 13: 100,297,193 (GRCm39) W948R probably benign Het
Nlrp9a A C 7: 26,250,311 (GRCm39) K25N probably damaging Het
Nsd3 T C 8: 26,204,212 (GRCm39) C414R probably damaging Het
Oit3 A T 10: 59,274,374 (GRCm39) V142D possibly damaging Het
Or2aj6 C T 16: 19,443,194 (GRCm39) V219M probably benign Het
P2ry6 T C 7: 100,587,580 (GRCm39) T260A probably damaging Het
Papola A G 12: 105,771,196 (GRCm39) Q87R probably benign Het
Pla2g4a T A 1: 149,727,086 (GRCm39) R557* probably null Het
Rgs13 G T 1: 144,016,576 (GRCm39) H56N probably damaging Het
Sbf1 T C 15: 89,189,111 (GRCm39) S537G probably benign Het
Sntg1 A C 1: 8,653,508 (GRCm39) L243R possibly damaging Het
Spata31h1 A T 10: 82,125,138 (GRCm39) L2624Q possibly damaging Het
Tbl1xr1 C A 3: 22,258,141 (GRCm39) H467Q probably damaging Het
Tmem131l A G 3: 83,820,587 (GRCm39) S1222P possibly damaging Het
Tmem43 G T 6: 91,455,759 (GRCm39) Q123H probably damaging Het
Tmem43 T A 6: 91,463,862 (GRCm39) I379N possibly damaging Het
Trim43c A T 9: 88,727,003 (GRCm39) I277F possibly damaging Het
Ttn A G 2: 76,703,211 (GRCm39) probably benign Het
Vmn1r75 T A 7: 11,615,003 (GRCm39) V245D probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vps53 A T 11: 75,967,881 (GRCm39) M414K probably benign Het
Wrn T G 8: 33,809,248 (GRCm39) L249F probably benign Het
Zc3h13 TGATGTCCGGGATGTCCGGGATGTCCGGGATGTCCGGGATGT TGATGTCCGGGATGTCCGGGATGTCCGGGATGT 14: 75,560,998 (GRCm39) probably benign Het
Zfp454 T C 11: 50,764,950 (GRCm39) N161D probably benign Het
Zfp619 G A 7: 39,183,586 (GRCm39) G60R probably benign Het
Zfp623 T A 15: 75,820,308 (GRCm39) H421Q probably damaging Het
Zfp827 A G 8: 79,916,606 (GRCm39) probably benign Het
Other mutations in Stam2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Stam2 APN 2 52,596,418 (GRCm39) missense possibly damaging 0.80
IGL00471:Stam2 APN 2 52,610,947 (GRCm39) missense probably damaging 1.00
IGL01480:Stam2 APN 2 52,606,451 (GRCm39) missense probably benign
IGL01731:Stam2 APN 2 52,598,162 (GRCm39) missense probably damaging 0.99
IGL02684:Stam2 APN 2 52,609,947 (GRCm39) missense probably damaging 1.00
IGL02893:Stam2 APN 2 52,604,914 (GRCm39) missense probably damaging 1.00
IGL02900:Stam2 APN 2 52,598,209 (GRCm39) missense probably benign
R0110:Stam2 UTSW 2 52,609,998 (GRCm39) splice site probably benign
R0257:Stam2 UTSW 2 52,584,794 (GRCm39) missense possibly damaging 0.90
R0539:Stam2 UTSW 2 52,593,268 (GRCm39) splice site probably benign
R1432:Stam2 UTSW 2 52,604,821 (GRCm39) splice site probably benign
R1699:Stam2 UTSW 2 52,593,187 (GRCm39) missense possibly damaging 0.55
R1822:Stam2 UTSW 2 52,606,539 (GRCm39) missense probably damaging 1.00
R1956:Stam2 UTSW 2 52,598,239 (GRCm39) critical splice acceptor site probably null
R1984:Stam2 UTSW 2 52,599,638 (GRCm39) missense possibly damaging 0.71
R1985:Stam2 UTSW 2 52,599,638 (GRCm39) missense possibly damaging 0.71
R1986:Stam2 UTSW 2 52,599,638 (GRCm39) missense possibly damaging 0.71
R1993:Stam2 UTSW 2 52,593,168 (GRCm39) nonsense probably null
R2179:Stam2 UTSW 2 52,584,936 (GRCm39) missense probably benign 0.00
R2181:Stam2 UTSW 2 52,593,156 (GRCm39) missense probably benign 0.00
R4617:Stam2 UTSW 2 52,605,716 (GRCm39) missense probably benign 0.00
R4723:Stam2 UTSW 2 52,610,962 (GRCm39) missense probably benign 0.10
R5217:Stam2 UTSW 2 52,626,305 (GRCm39) intron probably benign
R5218:Stam2 UTSW 2 52,626,305 (GRCm39) intron probably benign
R5219:Stam2 UTSW 2 52,626,305 (GRCm39) intron probably benign
R5366:Stam2 UTSW 2 52,626,305 (GRCm39) intron probably benign
R5368:Stam2 UTSW 2 52,626,305 (GRCm39) intron probably benign
R5420:Stam2 UTSW 2 52,626,305 (GRCm39) intron probably benign
R5447:Stam2 UTSW 2 52,626,305 (GRCm39) intron probably benign
R5490:Stam2 UTSW 2 52,610,929 (GRCm39) missense probably damaging 1.00
R5799:Stam2 UTSW 2 52,610,922 (GRCm39) nonsense probably null
R5861:Stam2 UTSW 2 52,632,116 (GRCm39) utr 5 prime probably benign
R6039:Stam2 UTSW 2 52,599,611 (GRCm39) missense probably benign
R6039:Stam2 UTSW 2 52,599,611 (GRCm39) missense probably benign
R6552:Stam2 UTSW 2 52,598,239 (GRCm39) critical splice acceptor site probably null
R6792:Stam2 UTSW 2 52,597,993 (GRCm39) missense probably benign
R7787:Stam2 UTSW 2 52,596,418 (GRCm39) missense probably benign 0.01
R8042:Stam2 UTSW 2 52,596,409 (GRCm39) critical splice donor site probably null
R8050:Stam2 UTSW 2 52,609,785 (GRCm39) missense probably damaging 1.00
R8074:Stam2 UTSW 2 52,596,438 (GRCm39) missense probably damaging 0.98
R8245:Stam2 UTSW 2 52,604,931 (GRCm39) missense possibly damaging 0.51
R8732:Stam2 UTSW 2 52,590,180 (GRCm39) missense probably damaging 0.99
R8856:Stam2 UTSW 2 52,604,984 (GRCm39) missense probably damaging 1.00
R9018:Stam2 UTSW 2 52,606,463 (GRCm39) missense probably benign
R9267:Stam2 UTSW 2 52,604,903 (GRCm39) missense probably damaging 1.00
R9679:Stam2 UTSW 2 52,606,582 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CCTAAACCAAACAGCTAGTTAAGTAAG -3'
(R):5'- AGGACTGGTTGCAGTTGTGATAA -3'

Sequencing Primer
(F):5'- CAGCTAGTTAAGTAAGCAGTTACAG -3'
(R):5'- CCGTATATCATGTGCATGCTAGGAC -3'
Posted On 2018-06-06