Incidental Mutation 'IGL01731:Stam2'
ID 105474
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stam2
Ensembl Gene ENSMUSG00000055371
Gene Name signal transducing adaptor molecule (SH3 domain and ITAM motif) 2
Synonyms 1200004O12Rik, 5730456G07Rik, Hbp
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01731
Quality Score
Status
Chromosome 2
Chromosomal Location 52582213-52632212 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52598162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 259 (I259T)
Ref Sequence ENSEMBL: ENSMUSP00000121898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102759] [ENSMUST00000127316] [ENSMUST00000155516]
AlphaFold O88811
PDB Structure Crystal Structure of STAM2 SH3 domain in complex with a UBPY-derived peptide [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000102759
AA Change: I292T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099820
Gene: ENSMUSG00000055371
AA Change: I292T

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 damaging
Transcript: ENSMUST00000127316
AA Change: I259T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121898
Gene: ENSMUSG00000055371
AA Change: I259T

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 noncoding transcript
Transcript: ENSMUST00000150582
Predicted Effect probably benign
Transcript: ENSMUST00000155516
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 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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430093F15Rik T A 19: 10,762,711 (GRCm39) probably benign Het
Abca13 T C 11: 9,199,749 (GRCm39) probably benign Het
Abcc6 G A 7: 45,652,034 (GRCm39) P611L possibly damaging Het
Acsl6 A G 11: 54,241,385 (GRCm39) E547G probably benign Het
Aldh1b1 T C 4: 45,803,472 (GRCm39) F337L possibly damaging Het
Alg1 C T 16: 5,062,383 (GRCm39) R422C probably benign Het
Ankrd23 A G 1: 36,573,147 (GRCm39) L75S probably damaging Het
Arid5b T C 10: 67,933,439 (GRCm39) H578R probably damaging Het
Atp10a G T 7: 58,447,310 (GRCm39) W684L probably benign Het
Bzw2 T C 12: 36,157,647 (GRCm39) probably null Het
C2cd2 A T 16: 97,671,372 (GRCm39) I509K probably damaging Het
Card11 T C 5: 140,868,057 (GRCm39) T864A possibly damaging Het
Ces1f A G 8: 93,993,948 (GRCm39) S278P possibly damaging Het
Chd8 T C 14: 52,450,111 (GRCm39) I208V probably benign Het
Cstf2t T C 19: 31,061,738 (GRCm39) S425P probably benign Het
Cxcl1 A G 5: 91,039,436 (GRCm39) T60A probably benign Het
Diaph1 G T 18: 37,986,762 (GRCm39) probably benign Het
Dnai4 T C 4: 102,919,632 (GRCm39) I139V probably benign Het
Exoc3l T G 8: 106,019,587 (GRCm39) K394T probably benign Het
Fabp4 T C 3: 10,270,293 (GRCm39) probably benign Het
Fam234b T A 6: 135,188,903 (GRCm39) F169L possibly damaging Het
Hectd1 C A 12: 51,849,593 (GRCm39) D204Y possibly damaging Het
Hephl1 A T 9: 14,981,066 (GRCm39) Y789N probably damaging Het
Igfbp6 C A 15: 102,053,252 (GRCm39) N90K probably benign Het
Khdrbs1 A T 4: 129,619,462 (GRCm39) D226E probably benign Het
Lipo4 T A 19: 33,490,013 (GRCm39) Q163L probably damaging Het
Med13l T C 5: 118,880,472 (GRCm39) I1188T probably benign Het
Mki67 T C 7: 135,298,278 (GRCm39) E2252G probably benign Het
Nepn G T 10: 52,276,660 (GRCm39) R132L probably benign Het
Nlrp9b T A 7: 19,757,342 (GRCm39) L193* probably null Het
Ntn1 A G 11: 68,276,244 (GRCm39) S235P probably damaging Het
Nup210l G T 3: 90,061,873 (GRCm39) R684L probably damaging Het
Obi1 T C 14: 104,716,738 (GRCm39) D545G probably damaging Het
Obp2b A G 2: 25,629,293 (GRCm39) S154G possibly damaging Het
Or10ag59 A G 2: 87,406,282 (GRCm39) T285A probably benign Het
Or4f57 A G 2: 111,790,980 (GRCm39) V146A probably benign Het
Or51b6b T A 7: 103,310,053 (GRCm39) T135S probably benign Het
Or5p1 A T 7: 107,916,682 (GRCm39) I194F probably benign Het
Polr3b A T 10: 84,467,704 (GRCm39) R95* probably null Het
Prelid2 C T 18: 42,070,714 (GRCm39) V40M probably benign Het
Ptprb T G 10: 116,208,781 (GRCm39) L2205R probably damaging Het
R3hcc1l T C 19: 42,551,240 (GRCm39) V79A probably benign Het
Tdpoz4 A T 3: 93,704,189 (GRCm39) N162I possibly damaging Het
Tuba3a A G 6: 125,259,721 (GRCm39) V75A possibly damaging Het
Vmn2r73 A T 7: 85,506,757 (GRCm39) *852K probably null Het
Zfp7 C T 15: 76,772,505 (GRCm39) Q69* probably null Het
Zfp865 G T 7: 5,032,875 (GRCm39) A287S probably benign Het
Zmpste24 T A 4: 120,955,081 (GRCm39) Q39L 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
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
R6490:Stam2 UTSW 2 52,610,954 (GRCm39) missense probably benign 0.00
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
Posted On 2014-01-21