Incidental Mutation 'R1985:Stam2'
ID 220411
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 039997-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1985 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 52582213-52632212 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52599638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 257 (T257A)
Ref Sequence ENSEMBL: ENSMUSP00000099820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102759] [ENSMUST00000127316] [ENSMUST00000155516]
AlphaFold O88811
Predicted Effect possibly damaging
Transcript: ENSMUST00000102759
AA Change: T257A

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099820
Gene: ENSMUSG00000055371
AA Change: T257A

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: T224A

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000121898
Gene: ENSMUSG00000055371
AA Change: T224A

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
Meta Mutation Damage Score 0.2001 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 94% (76/81)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 C A 8: 71,916,157 (GRCm39) probably benign Het
Adam5 A T 8: 25,236,755 (GRCm39) D648E probably benign Het
Akr1d1 A G 6: 37,535,336 (GRCm39) D240G probably damaging Het
Ankmy2 A G 12: 36,207,363 (GRCm39) H3R possibly damaging Het
Anpep A C 7: 79,490,605 (GRCm39) probably null Het
Apobr A G 7: 126,186,903 (GRCm39) T20A possibly damaging Het
Atp2a2 A T 5: 122,604,899 (GRCm39) Y427N probably benign Het
Camkk2 A C 5: 122,902,190 (GRCm39) S40A possibly damaging Het
Camp T C 9: 109,677,497 (GRCm39) N112S probably benign Het
Cbx7 A G 15: 79,802,591 (GRCm39) S229P probably damaging Het
Cnot2 T C 10: 116,363,781 (GRCm39) N41S probably damaging Het
Dchs1 A G 7: 105,421,605 (GRCm39) F272L possibly damaging Het
Dct T C 14: 118,273,954 (GRCm39) K318E probably benign Het
Dhrs11 A C 11: 84,719,633 (GRCm39) L31V probably damaging Het
Dnah7a T C 1: 53,543,093 (GRCm39) D2359G probably benign Het
Dnajc7 A G 11: 100,481,718 (GRCm39) S305P probably benign Het
Dscc1 CTGAATGAAT CTGAAT 15: 54,943,572 (GRCm39) probably benign Het
Flnc A G 6: 29,444,415 (GRCm39) probably benign Het
Garin3 T C 11: 46,298,693 (GRCm39) *666Q probably null Het
Gm7535 A G 17: 18,131,800 (GRCm39) probably benign Het
Grtp1 A G 8: 13,229,376 (GRCm39) F313L probably damaging Het
Haus6 T C 4: 86,511,846 (GRCm39) Y425C possibly damaging Het
Hdac1 T A 4: 129,422,753 (GRCm39) N83Y possibly damaging Het
Hdlbp A G 1: 93,358,840 (GRCm39) I237T probably damaging Het
Hfm1 A T 5: 107,046,442 (GRCm39) D481E probably damaging Het
Hipk3 T C 2: 104,264,780 (GRCm39) I737V probably benign Het
Il23r T A 6: 67,467,652 (GRCm39) probably null Het
Il24 G A 1: 130,810,268 (GRCm39) T196I probably benign Het
Ints3 C T 3: 90,307,610 (GRCm39) probably null Het
Kcna6 T C 6: 126,715,473 (GRCm39) E472G probably benign Het
Kcnj16 C T 11: 110,916,409 (GRCm39) T357M probably benign Het
Kdm4b T A 17: 56,708,302 (GRCm39) V957E probably damaging Het
Kif21b G A 1: 136,075,284 (GRCm39) D166N probably damaging Het
Klhl11 G T 11: 100,354,070 (GRCm39) Q584K probably benign Het
Krt9 A T 11: 100,080,817 (GRCm39) M345K probably benign Het
Lgr5 T C 10: 115,331,150 (GRCm39) probably benign Het
Lilrb4b A T 10: 51,357,831 (GRCm39) Q80L possibly damaging Het
Lrrc69 T C 4: 14,708,669 (GRCm39) E225G possibly damaging Het
Ly9 A G 1: 171,427,341 (GRCm39) S405P probably damaging Het
Myh2 A G 11: 67,071,740 (GRCm39) D519G possibly damaging Het
Nav3 G A 10: 109,606,045 (GRCm39) probably benign Het
Nfkb1 G A 3: 135,321,110 (GRCm39) T215I possibly damaging Het
Ninj2 A T 6: 120,175,600 (GRCm39) probably benign Het
Obsl1 A G 1: 75,482,244 (GRCm39) C209R probably damaging Het
Or13a25 G A 7: 140,247,734 (GRCm39) C171Y probably damaging Het
Or2d4 A G 7: 106,544,133 (GRCm39) I25T probably benign Het
Or2j6 A T 7: 139,980,713 (GRCm39) M82K possibly damaging Het
Or2t44 A C 11: 58,677,210 (GRCm39) D50A probably damaging Het
Or2y1g T C 11: 49,171,110 (GRCm39) I45T probably damaging Het
Or52z14 A T 7: 103,252,879 (GRCm39) Y6F probably benign Het
Otud4 G C 8: 80,366,641 (GRCm39) R36P probably damaging Het
Pcnt C T 10: 76,216,171 (GRCm39) R2239H possibly damaging Het
Pgbd5 T A 8: 125,097,331 (GRCm39) M491L probably benign Het
Pitrm1 A T 13: 6,608,220 (GRCm39) D316V probably damaging Het
Plod3 A G 5: 137,019,707 (GRCm39) probably null Het
Plppr3 A T 10: 79,703,294 (GRCm39) Y63* probably null Het
Pramel52-ps A T 5: 94,531,931 (GRCm39) I272L probably benign Het
Prickle2 T C 6: 92,388,433 (GRCm39) D323G probably damaging Het
Psmd11 A T 11: 80,336,089 (GRCm39) I114F probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rbp3 T G 14: 33,678,418 (GRCm39) S789A probably benign Het
Rfxap C A 3: 54,714,747 (GRCm39) R117L probably damaging Het
Rims2 T A 15: 39,208,710 (GRCm39) M171K probably damaging Het
Scin A G 12: 40,183,907 (GRCm39) probably null Het
Scn11a A G 9: 119,583,744 (GRCm39) S1624P probably benign Het
Slc41a3 G A 6: 90,619,210 (GRCm39) V330M probably damaging Het
Slc9c1 A G 16: 45,370,469 (GRCm39) I237V probably benign Het
Spag6 A G 2: 18,736,930 (GRCm39) I218V probably benign Het
Tbc1d24 G A 17: 24,426,938 (GRCm39) R318* probably null Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Trpm3 T A 19: 22,903,446 (GRCm39) Y1069N possibly damaging Het
Tuba8 A G 6: 121,197,479 (GRCm39) D47G probably benign Het
Tulp3 A T 6: 128,303,769 (GRCm39) S277T probably benign Het
Uqcc6 T A 10: 82,456,051 (GRCm39) T37S possibly damaging Het
Wdr7 GTT GT 18: 63,893,654 (GRCm39) probably null Het
Ybx2 A G 11: 69,827,294 (GRCm39) probably null Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp788 T A 7: 41,299,905 (GRCm39) I795N probably 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
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
Predicted Primers PCR Primer
(F):5'- ATCTGAAAAGTTCCCAAGGTTCC -3'
(R):5'- TCTTATGTATAGCTGGATGGGAAC -3'

Sequencing Primer
(F):5'- TGGCCAGAAACTCACTGTGTG -3'
(R):5'- TGGGAACAACTGGGAAAGTCC -3'
Posted On 2014-08-25