Incidental Mutation 'R5368:Stam2'
ID 429454
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 043204-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5368 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 52582213-52632212 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 52626305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102759] [ENSMUST00000127316] [ENSMUST00000138290] [ENSMUST00000155516]
AlphaFold O88811
Predicted Effect probably benign
Transcript: ENSMUST00000102759
SMART Domains Protein: ENSMUSP00000099820
Gene: ENSMUSG00000055371

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
SMART Domains Protein: ENSMUSP00000121898
Gene: ENSMUSG00000055371

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: ENSMUST00000144688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150582
Predicted Effect unknown
Transcript: ENSMUST00000155516
AA Change: P23S
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (61/63)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T A 7: 130,740,925 (GRCm39) H97L possibly damaging Het
Abca9 T A 11: 110,036,372 (GRCm39) N579I probably damaging Het
Acbd3 A T 1: 180,549,660 (GRCm39) probably benign Het
Ankrd50 A T 3: 38,509,199 (GRCm39) I1056N probably damaging Het
Ceacam18 T C 7: 43,291,458 (GRCm39) V300A probably benign Het
Cfap46 C A 7: 139,207,389 (GRCm39) R1843S possibly damaging Het
D430041D05Rik A G 2: 104,078,629 (GRCm39) V1229A probably damaging Het
Dbx2 G A 15: 95,538,522 (GRCm39) S206L probably benign Het
Dnah11 A T 12: 117,918,628 (GRCm39) D1530E probably damaging Het
Ecm2 A C 13: 49,674,419 (GRCm39) T280P probably benign Het
Emc2 G A 15: 43,375,207 (GRCm39) probably null Het
Epb42 C T 2: 120,849,943 (GRCm39) V689I probably benign Het
Fam114a1 T A 5: 65,163,452 (GRCm39) M209K possibly damaging Het
Fam117a C T 11: 95,266,459 (GRCm39) S193F probably damaging Het
Foxp2 A T 6: 15,377,913 (GRCm39) probably benign Het
Frmd6 T A 12: 70,910,874 (GRCm39) C19* probably null Het
Fyb1 A G 15: 6,610,159 (GRCm39) probably null Het
Gata6 C A 18: 11,063,059 (GRCm39) H442Q possibly damaging Het
Gldc A G 19: 30,135,921 (GRCm39) S160P probably benign Het
Gm3952 A G 8: 129,472,455 (GRCm39) S1626P possibly damaging Het
Gm9762 T A 3: 78,873,742 (GRCm39) noncoding transcript Het
Gtpbp2 T C 17: 46,477,230 (GRCm39) probably benign Het
Hgd A T 16: 37,410,113 (GRCm39) T50S probably benign Het
Itpr1 C T 6: 108,364,459 (GRCm39) T22M probably damaging Het
Kif26b G A 1: 178,743,449 (GRCm39) E1182K probably damaging Het
Kirrel3 A G 9: 34,919,034 (GRCm39) E230G probably damaging Het
Leng8 A G 7: 4,142,987 (GRCm39) Y88C probably damaging Het
Lpo T C 11: 87,711,895 (GRCm39) D54G possibly damaging Het
Lypd2 G T 15: 74,604,908 (GRCm39) A29E probably benign Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Mical3 T C 6: 120,936,434 (GRCm39) Y1364C probably damaging Het
Mroh2b A G 15: 4,935,054 (GRCm39) N163S probably damaging Het
Mtf1 G A 4: 124,718,872 (GRCm39) C295Y probably damaging Het
Nbn T A 4: 15,969,391 (GRCm39) L212Q probably damaging Het
Obscn A T 11: 58,959,852 (GRCm39) probably null Het
Or10ag56 T A 2: 87,139,126 (GRCm39) probably null Het
Or4c110 A G 2: 88,832,435 (GRCm39) S66P probably damaging Het
Peli1 A G 11: 21,098,389 (GRCm39) T375A probably damaging Het
Picalm T C 7: 89,856,803 (GRCm39) *611Q probably null Het
Plch1 G T 3: 63,609,394 (GRCm39) Q938K possibly damaging Het
Plxnb2 A G 15: 89,043,796 (GRCm39) V1352A possibly damaging Het
Pmepa1 G A 2: 173,070,115 (GRCm39) R147W probably damaging Het
Prdm16 T G 4: 154,429,848 (GRCm39) K373Q probably damaging Het
Qki T G 17: 10,457,964 (GRCm39) E135A probably damaging Het
Rad50 T C 11: 53,575,073 (GRCm39) K556E probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Sin3a T A 9: 57,018,084 (GRCm39) D834E possibly damaging Het
Smg8 G A 11: 86,971,086 (GRCm39) S895L probably benign Het
Sorl1 T C 9: 41,890,686 (GRCm39) I1944M probably benign Het
Tmprss7 A T 16: 45,481,252 (GRCm39) W645R probably damaging Het
Tns1 T C 1: 73,980,176 (GRCm39) M1111V probably benign Het
Ttn A C 2: 76,608,726 (GRCm39) D17763E probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubr4 G A 4: 139,124,839 (GRCm39) probably benign Het
Usp31 T C 7: 121,260,588 (GRCm39) H637R probably damaging Het
Vps50 A C 6: 3,567,739 (GRCm39) E545A possibly damaging Het
Wdfy3 G T 5: 102,020,724 (GRCm39) L2527M probably damaging Het
Wfdc2 T C 2: 164,405,354 (GRCm39) V85A possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- ACTAGCCAGGGTTATGAGGG -3'
(R):5'- TGGACAACTGATAGCTCTTAGCC -3'

Sequencing Primer
(F):5'- TGGCCGTGCAAAAACACTTTG -3'
(R):5'- GACAACTGATAGCTCTTAGCCATTTG -3'
Posted On 2016-09-06