Incidental Mutation 'IGL01563:Sh2d2a'
ID 90898
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sh2d2a
Ensembl Gene ENSMUSG00000028071
Gene Name SH2 domain containing 2A
Synonyms Rlk/Itk-binding protein, Lad, Lck-associated adapter protein, TSAd, RIBP
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL01563
Quality Score
Status
Chromosome 3
Chromosomal Location 87754062-87763029 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87759432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 273 (E273G)
Ref Sequence ENSEMBL: ENSMUSP00000029709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029709] [ENSMUST00000107581]
AlphaFold Q9QXK9
Predicted Effect probably damaging
Transcript: ENSMUST00000029709
AA Change: E273G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029709
Gene: ENSMUSG00000028071
AA Change: E273G

DomainStartEndE-ValueType
SH2 114 197 2.31e-23 SMART
low complexity region 235 249 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107581
AA Change: E281G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103207
Gene: ENSMUSG00000028071
AA Change: E281G

DomainStartEndE-ValueType
SH2 114 197 2.31e-23 SMART
low complexity region 235 249 N/A INTRINSIC
Blast:SH2 281 316 9e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194639
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adaptor protein thought to function in T-cell signal transduction. A related protein in mouse is responsible for the activation of lymphocyte-specific protein-tyrosine kinase and functions in downstream signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
PHENOTYPE: While T cell development is normal, T cell proliferation in response to TCR-mediated activation is impaired in homozygous null mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 A G 6: 85,604,965 (GRCm39) E2205G probably damaging Het
Arid2 G A 15: 96,270,278 (GRCm39) V1464I probably damaging Het
Axin2 A G 11: 108,814,631 (GRCm39) Q173R probably damaging Het
Best1 A G 19: 9,964,099 (GRCm39) F454L probably benign Het
CK137956 T G 4: 127,864,428 (GRCm39) K67T possibly damaging Het
Col14a1 G A 15: 55,351,337 (GRCm39) G1555R unknown Het
Csad G A 15: 102,095,598 (GRCm39) S153F probably damaging Het
Cyp4f40 A T 17: 32,892,930 (GRCm39) D315V probably damaging Het
Galnt3 G A 2: 65,928,101 (GRCm39) A265V probably damaging Het
Gm5901 C A 7: 105,026,722 (GRCm39) Y163* probably null Het
Golga4 A G 9: 118,356,074 (GRCm39) probably benign Het
Greb1l A G 18: 10,469,399 (GRCm39) D138G probably damaging Het
Has1 A T 17: 18,063,924 (GRCm39) probably benign Het
Ighv1-42 A G 12: 114,900,804 (GRCm39) S94P probably damaging Het
Katnb1 T A 8: 95,824,787 (GRCm39) L569Q probably damaging Het
Nedd1 C T 10: 92,534,031 (GRCm39) probably null Het
Or2b2 A G 13: 21,887,243 (GRCm39) E24G probably benign Het
Or8c15 T A 9: 38,120,997 (GRCm39) I214N probably damaging Het
Pdcd4 G A 19: 53,917,552 (GRCm39) R463H probably benign Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Ro60 A G 1: 143,637,120 (GRCm39) V364A probably benign Het
Rps19bp1 A G 15: 80,145,532 (GRCm39) M84T probably benign Het
Sass6 A T 3: 116,398,847 (GRCm39) D43V probably damaging Het
Senp6 G A 9: 80,029,290 (GRCm39) S551N probably benign Het
Slc16a14 T C 1: 84,889,908 (GRCm39) probably benign Het
Smcr8 C T 11: 60,674,671 (GRCm39) R816C possibly damaging Het
Trappc8 A T 18: 20,970,103 (GRCm39) N962K probably benign Het
Trpc6 A G 9: 8,656,604 (GRCm39) E677G probably damaging Het
Ubap2 G T 4: 41,195,998 (GRCm39) P961T probably damaging Het
Vmn1r23 A G 6: 57,903,061 (GRCm39) V239A possibly damaging Het
Vps41 T C 13: 18,966,897 (GRCm39) probably benign Het
Vwf A T 6: 125,568,128 (GRCm39) D341V probably damaging Het
Zfp618 C T 4: 62,998,133 (GRCm39) P45L probably benign Het
Other mutations in Sh2d2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Sh2d2a APN 3 87,759,136 (GRCm39) missense probably benign 0.00
R0178:Sh2d2a UTSW 3 87,756,730 (GRCm39) missense probably benign 0.24
R0522:Sh2d2a UTSW 3 87,754,416 (GRCm39) critical splice donor site probably null
R0545:Sh2d2a UTSW 3 87,759,195 (GRCm39) splice site probably benign
R1977:Sh2d2a UTSW 3 87,759,123 (GRCm39) nonsense probably null
R3076:Sh2d2a UTSW 3 87,759,477 (GRCm39) missense probably benign
R3684:Sh2d2a UTSW 3 87,759,027 (GRCm39) splice site probably null
R4981:Sh2d2a UTSW 3 87,756,728 (GRCm39) missense probably damaging 1.00
R5082:Sh2d2a UTSW 3 87,759,091 (GRCm39) missense probably benign 0.12
R5315:Sh2d2a UTSW 3 87,754,976 (GRCm39) missense probably damaging 1.00
R5789:Sh2d2a UTSW 3 87,756,820 (GRCm39) intron probably benign
R7189:Sh2d2a UTSW 3 87,755,668 (GRCm39) missense possibly damaging 0.50
R9180:Sh2d2a UTSW 3 87,759,070 (GRCm39) missense possibly damaging 0.69
R9210:Sh2d2a UTSW 3 87,756,655 (GRCm39) missense probably damaging 1.00
R9480:Sh2d2a UTSW 3 87,759,638 (GRCm39) missense probably benign 0.01
R9661:Sh2d2a UTSW 3 87,756,788 (GRCm39) critical splice donor site probably null
X0062:Sh2d2a UTSW 3 87,755,070 (GRCm39) missense probably benign 0.02
Posted On 2013-12-09