Incidental Mutation 'R7189:Sh2d2a'
ID559480
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
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.051) question?
Stock #R7189 (G1)
Quality Score225.009
Status Validated
Chromosome3
Chromosomal Location87846755-87855722 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 87848361 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 65 (S65T)
Ref Sequence ENSEMBL: ENSMUSP00000103207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029709] [ENSMUST00000107581]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029709
AA Change: S65T

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029709
Gene: ENSMUSG00000028071
AA Change: S65T

DomainStartEndE-ValueType
SH2 114 197 2.31e-23 SMART
low complexity region 235 249 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107581
AA Change: S65T

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103207
Gene: ENSMUSG00000028071
AA Change: S65T

DomainStartEndE-ValueType
SH2 114 197 2.31e-23 SMART
low complexity region 235 249 N/A INTRINSIC
Blast:SH2 281 316 9e-8 BLAST
Meta Mutation Damage Score 0.076 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 95% (57/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 G T 2: 103,567,516 A264S probably benign Het
Atr G T 9: 95,862,791 E54* probably null Het
Bmp4 A G 14: 46,383,999 S363P probably damaging Het
Cfap54 C A 10: 92,937,728 A2077S unknown Het
Chrna7 T C 7: 63,106,027 D257G probably damaging Het
Chrnd C T 1: 87,191,058 R46W probably damaging Het
Cntn2 A G 1: 132,517,086 I851T probably damaging Het
Col3a1 T A 1: 45,333,657 I534K unknown Het
Cyp3a25 A T 5: 146,003,060 L46I probably benign Het
Dnah7b G C 1: 46,242,142 G2788R probably damaging Het
Dnpep T C 1: 75,313,430 E301G probably damaging Het
Efcab3 T C 11: 105,095,864 S30P probably benign Het
Elk4 A G 1: 132,019,389 I373V probably damaging Het
Fam161b T C 12: 84,348,646 S508G probably damaging Het
Fam198b T A 3: 79,886,807 L194* probably null Het
Fam214a T C 9: 75,004,351 C42R probably damaging Het
Fam71d C T 12: 78,712,208 P101S probably benign Het
Fgf10 A G 13: 118,789,123 E146G probably benign Het
Fsip2 A G 2: 82,993,237 D6438G possibly damaging Het
Gm3139 T A 5: 94,537,751 Y423* probably null Het
Gm49355 T A 14: 12,296,672 C10* probably null Het
Hfm1 A G 5: 106,901,703 probably null Het
Hivep3 T C 4: 120,132,219 S1956P probably damaging Het
Hrh2 A G 13: 54,221,251 S369G unknown Het
Hspg2 T C 4: 137,533,561 probably null Het
Hsph1 T C 5: 149,630,460 Y181C probably damaging Het
Kcnh8 A G 17: 52,894,117 probably null Het
Kctd1 C T 18: 15,062,643 E308K possibly damaging Het
Kdm8 A T 7: 125,460,931 Y335F probably damaging Het
Kif2b C G 11: 91,577,137 G107R probably benign Het
Lama4 G A 10: 38,965,733 probably benign Het
Lepr T C 4: 101,814,764 V995A probably benign Het
Mfsd4a A T 1: 132,052,393 V375E probably damaging Het
Mgl2 G T 11: 70,137,043 W359L probably damaging Het
Muc5b C A 7: 141,861,061 Y2581* probably null Het
Nol10 G T 12: 17,373,561 probably null Het
Olfr1297 T A 2: 111,621,193 M294L probably benign Het
Olfr665 A T 7: 104,881,141 K145* probably null Het
Otud3 C T 4: 138,909,554 V99M probably damaging Het
Parvb T C 15: 84,303,471 probably null Het
Pclo C A 5: 14,521,918 P439Q possibly damaging Het
Peg10 CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC CATC 6: 4,756,431 probably benign Het
Pkn1 A T 8: 83,692,673 H100Q possibly damaging Het
Plce1 A T 19: 38,760,137 I1771F probably damaging Het
Plxna2 G T 1: 194,801,058 R1559L possibly damaging Het
Ppp2r3a T A 9: 101,126,422 I416L possibly damaging Het
Robo1 C A 16: 72,960,151 C333* probably null Het
Ryr2 A T 13: 11,883,123 Y129N probably damaging Het
Schip1 A T 3: 68,617,699 K359M probably damaging Het
Schip1 G T 3: 68,617,700 K359N probably damaging Het
Ssrp1 G A 2: 85,045,562 M588I probably benign Het
Stim2 T A 5: 54,116,128 C567S probably benign Het
Syne1 C A 10: 5,424,295 A171S probably benign Het
Tigd3 A G 19: 5,893,022 S27P probably benign Het
Vipr1 C A 9: 121,664,554 Q224K probably damaging Het
Vmn1r75 T A 7: 11,880,548 M69K possibly damaging Het
Vmn2r72 T G 7: 85,754,917 D22A probably benign Het
Zbtb24 G A 10: 41,464,476 V523I probably benign Het
Zbtb43 A G 2: 33,462,295 F20S 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
R5789:Sh2d2a UTSW 3 87849513 intron probably benign
X0062:Sh2d2a UTSW 3 87847763 missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CTGGGGCCAGTATGGAAGATAC -3'
(R):5'- AGGATTTCCCTGACTGACTCAG -3'

Sequencing Primer
(F):5'- TACAGAAGGAATTTAAGTCAGTGACC -3'
(R):5'- TGACTGACTCAGGACCCTGTG -3'
Posted On2019-06-26