Incidental Mutation 'R5218:Stam2'
ID 403582
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 042791-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5218 (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: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (60/60)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,629,628 (GRCm39) N230K possibly damaging Het
4933428M09Rik G T X: 138,080,282 (GRCm39) G16* probably null Het
Albfm1 A G 5: 90,729,777 (GRCm39) K400R probably benign Het
Amigo1 A G 3: 108,095,086 (GRCm39) probably null Het
Arhgap30 A T 1: 171,236,328 (GRCm39) T901S probably benign Het
Arpp21 T C 9: 111,972,499 (GRCm39) D264G probably damaging Het
Ccbe1 C T 18: 66,216,229 (GRCm39) G165S probably damaging Het
Celsr1 T C 15: 85,816,585 (GRCm39) D1786G probably damaging Het
Cntn1 T C 15: 92,237,430 (GRCm39) L1008P unknown Het
Dclk2 T A 3: 86,712,985 (GRCm39) D489V probably damaging Het
Dip2b T A 15: 100,052,177 (GRCm39) D259E probably benign Het
Disp3 T C 4: 148,327,333 (GRCm39) S1184G possibly damaging Het
Dync1li2 C T 8: 105,169,179 (GRCm39) W36* probably null Het
Ece2 A T 16: 20,437,290 (GRCm39) M211L probably benign Het
Edn3 C T 2: 174,603,345 (GRCm39) A31V probably benign Het
Enpp2 T C 15: 54,750,982 (GRCm39) Q266R possibly damaging Het
Fabp1 C A 6: 71,176,944 (GRCm39) Q12K probably damaging Het
Flt1 G A 5: 147,618,738 (GRCm39) T199M probably damaging Het
Galns T A 8: 123,325,328 (GRCm39) I275F probably damaging Het
Gapvd1 T C 2: 34,618,488 (GRCm39) D295G probably benign Het
Gatb A G 3: 85,511,751 (GRCm39) I169V probably benign Het
Gpd1 T A 15: 99,618,011 (GRCm39) I109N probably damaging Het
Gps2 T C 11: 69,807,121 (GRCm39) probably null Het
Hsd17b12 T C 2: 93,913,608 (GRCm39) N99D probably benign Het
Itga3 A T 11: 94,953,574 (GRCm39) V256E probably benign Het
Kcnma1 T A 14: 23,513,253 (GRCm39) Y527F probably damaging Het
Lamc1 C A 1: 153,103,442 (GRCm39) V1375L probably damaging Het
Lrp1 C A 10: 127,384,488 (GRCm39) E3580D probably damaging Het
Ltbp4 AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC AATTCAGGCCTAGGCTGGGATTCAGGC 7: 27,026,736 (GRCm39) probably benign Het
Medag A T 5: 149,345,719 (GRCm39) probably benign Het
Ncdn C A 4: 126,644,603 (GRCm39) R73L probably benign Het
Nr4a1 T C 15: 101,170,034 (GRCm39) V339A probably benign Het
Ocln G T 13: 100,642,822 (GRCm39) P420Q probably damaging Het
Or5ac24 A T 16: 59,165,270 (GRCm39) S265T probably benign Het
Pank4 C T 4: 155,064,185 (GRCm39) T681I probably benign Het
Pcdhb6 T A 18: 37,467,388 (GRCm39) V103E possibly damaging Het
Pcsk6 T C 7: 65,675,036 (GRCm39) F469S probably benign Het
Phrf1 A G 7: 140,841,214 (GRCm39) N1353S possibly damaging Het
Pou6f2 A G 13: 18,326,586 (GRCm39) I72T probably damaging Het
Ppig T C 2: 69,563,127 (GRCm39) probably benign Het
Ptprh T C 7: 4,600,919 (GRCm39) S153G probably benign Het
Rab11b T C 17: 33,967,924 (GRCm39) N91S probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Slc2a9 A G 5: 38,610,524 (GRCm39) S92P probably damaging Het
Slit3 G A 11: 35,575,002 (GRCm39) probably null Het
Sox5 T C 6: 143,906,616 (GRCm39) I280V possibly damaging Het
Tdrd9 C T 12: 112,029,909 (GRCm39) probably benign Het
Tmem273 T A 14: 32,538,793 (GRCm39) probably null Het
Tmem74 A T 15: 43,730,640 (GRCm39) N134K possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Txnl1 T G 18: 63,812,538 (GRCm39) K85N probably benign Het
Vmn2r77 T A 7: 86,451,341 (GRCm39) M409K probably damaging Het
Wipf1 T C 2: 73,274,812 (GRCm39) D53G probably damaging Het
Wnt10a G A 1: 74,832,754 (GRCm39) V116I probably benign Het
Xpot T A 10: 121,455,043 (GRCm39) D33V probably damaging Het
Znrf3 C T 11: 5,231,519 (GRCm39) V665M 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
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
Predicted Primers PCR Primer
(F):5'- ACTAGCCAGGGTTATGAGGG -3'
(R):5'- ACTGATAGCTCTTAGCCATTTGTTG -3'

Sequencing Primer
(F):5'- TGGCCGTGCAAAAACACTTTG -3'
(R):5'- AGCTCTTAGCCATTTGTTGTCTGTAC -3'
Posted On 2016-07-22