Incidental Mutation 'R5789:Sh2d2a'
ID448194
Institutional Source Beutler Lab
Gene Symbol Sh2d2a
Ensembl Gene ENSMUSG00000028071
Gene NameSH2 domain containing 2A
SynonymsLad, Lck-associated adapter protein, RIBP, TSAd, Rlk/Itk-binding protein
MMRRC Submission 043383-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #R5789 (G1)
Quality Score169
Status Validated
Chromosome3
Chromosomal Location87846755-87855722 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to A at 87849513 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029709] [ENSMUST00000107581]
Predicted Effect probably benign
Transcript: ENSMUST00000029709
SMART Domains Protein: ENSMUSP00000029709
Gene: ENSMUSG00000028071

DomainStartEndE-ValueType
SH2 114 197 2.31e-23 SMART
low complexity region 235 249 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107581
SMART Domains Protein: ENSMUSP00000103207
Gene: ENSMUSG00000028071

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
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 97% (61/63)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110043O21Rik T A 4: 35,226,112 probably benign Het
Abcb11 A G 2: 69,245,764 F1200S probably damaging Het
Ahnak A T 19: 9,002,321 D323V probably benign Het
Aloxe3 T C 11: 69,126,439 Y13H probably damaging Het
Aqp1 A G 6: 55,336,761 I91V probably benign Het
Carmil1 A G 13: 24,121,848 S318P probably damaging Het
Cdan1 A G 2: 120,729,535 F383L probably benign Het
Col6a2 T A 10: 76,604,389 E606V probably damaging Het
Col6a5 T C 9: 105,864,608 T2371A possibly damaging Het
Cops3 T C 11: 59,830,280 probably benign Het
Coq7 G T 7: 118,529,706 H35Q possibly damaging Het
Cp T A 3: 19,957,290 F3I probably benign Het
D630003M21Rik C T 2: 158,216,814 E389K possibly damaging Het
Dclre1c A T 2: 3,437,956 Q51L probably damaging Het
Dhx37 A C 5: 125,421,039 I702S possibly damaging Het
Dnah3 G T 7: 119,943,599 A3530D possibly damaging Het
Dnajc13 T C 9: 104,214,188 R635G probably damaging Het
Dnhd1 A G 7: 105,705,010 S3066G possibly damaging Het
Doc2b T A 11: 75,786,115 H144L probably damaging Het
Eif2b3 T A 4: 117,028,495 I78N probably damaging Het
Enpp1 A T 10: 24,647,239 H767Q probably benign Het
Fam180a C A 6: 35,313,526 *174L probably null Het
Gabra1 A T 11: 42,182,915 probably benign Het
Gfral C T 9: 76,197,046 R228Q probably benign Het
Gm16551 T A 9: 74,849,253 noncoding transcript Het
Ifi213 C A 1: 173,568,794 probably benign Het
Inpp4a T C 1: 37,372,329 V358A possibly damaging Het
Kmt2a T C 9: 44,819,904 probably benign Het
Mrgprb13 A T 7: 48,312,198 noncoding transcript Het
Narfl T C 17: 25,781,203 C303R probably benign Het
Nckap5 A G 1: 126,027,702 F371S probably damaging Het
Nudcd1 G A 15: 44,388,483 Q428* probably null Het
Pcdhgc5 C A 18: 37,821,506 P611Q probably damaging Het
Plekhb1 A T 7: 100,645,586 Y193* probably null Het
Prrt1 T C 17: 34,631,957 probably null Het
Ptpn12 G A 5: 20,989,015 T753I possibly damaging Het
Samsn1 T C 16: 75,876,448 D180G probably damaging Het
Skiv2l2 A T 13: 112,891,285 N680K probably benign Het
Slc12a2 T A 18: 57,912,019 probably null Het
Socs3 T A 11: 117,967,782 Q150L probably benign Het
Supt6 A G 11: 78,233,586 V23A unknown Het
Tcf12 T C 9: 71,885,236 Y119C probably damaging Het
Them5 A G 3: 94,346,601 E210G probably damaging Het
Tmem135 A G 7: 89,196,122 F167S possibly damaging Het
Tmem170 A G 8: 111,866,400 V134A possibly damaging Het
Trbv20 A G 6: 41,188,791 Y50C probably damaging Het
Uroc1 A G 6: 90,344,197 M252V probably damaging Het
Wasf1 G A 10: 40,926,574 R75Q probably damaging Het
Xpnpep3 T A 15: 81,415,864 probably benign Het
Yars C T 4: 129,196,897 T78M probably damaging Het
Zdhhc16 T A 19: 41,938,133 H98Q probably damaging Het
Zfp90 T C 8: 106,423,973 L106P probably benign Het
Zscan22 T G 7: 12,903,926 S82A probably benign Het
Other mutations in Sh2d2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Sh2d2a APN 3 87851829 missense probably benign 0.00
IGL01563:Sh2d2a APN 3 87852125 missense probably damaging 1.00
R0178:Sh2d2a UTSW 3 87849423 missense probably benign 0.24
R0522:Sh2d2a UTSW 3 87847109 critical splice donor site probably null
R0545:Sh2d2a UTSW 3 87851888 splice site probably benign
R1977:Sh2d2a UTSW 3 87851816 nonsense probably null
R3076:Sh2d2a UTSW 3 87852170 missense probably benign
R3684:Sh2d2a UTSW 3 87851720 splice site probably null
R4981:Sh2d2a UTSW 3 87849421 missense probably damaging 1.00
R5082:Sh2d2a UTSW 3 87851784 missense probably benign 0.12
R5315:Sh2d2a UTSW 3 87847669 missense probably damaging 1.00
R7189:Sh2d2a UTSW 3 87848361 missense possibly damaging 0.50
X0062:Sh2d2a UTSW 3 87847763 missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AAGTCTGACTCAAAGTGGCC -3'
(R):5'- GCTTTGGAGACTCAGTAAACTTC -3'

Sequencing Primer
(F):5'- TGACTCAAAGTGGCCCCTCC -3'
(R):5'- AAACTTCACTTAATTTGACTGCCTC -3'
Posted On2016-12-15