Incidental Mutation 'R0178:Sh2d2a'
ID 23754
Institutional Source Beutler Lab
Gene Symbol Sh2d2a
Ensembl Gene ENSMUSG00000028071
Gene Name SH2 domain containing 2A
Synonyms Rlk/Itk-binding protein, Lad, Lck-associated adapter protein, TSAd, RIBP
MMRRC Submission 038446-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R0178 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 3
Chromosomal Location 87754062-87763029 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87756730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 192 (T192S)
Ref Sequence ENSEMBL: ENSMUSP00000103207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029709] [ENSMUST00000107581]
AlphaFold Q9QXK9
Predicted Effect probably benign
Transcript: ENSMUST00000029709
AA Change: T192S

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000029709
Gene: ENSMUSG00000028071
AA Change: T192S

DomainStartEndE-ValueType
SH2 114 197 2.31e-23 SMART
low complexity region 235 249 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107581
AA Change: T192S

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103207
Gene: ENSMUSG00000028071
AA Change: T192S

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
Meta Mutation Damage Score 0.1052 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 88.8%
Validation Efficiency 95% (69/73)
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
4930596D02Rik T G 14: 35,533,435 (GRCm39) N111T probably benign Het
Abca1 T C 4: 53,081,953 (GRCm39) D769G possibly damaging Het
Adcy6 G T 15: 98,502,096 (GRCm39) Q173K probably benign Het
Amotl1 G A 9: 14,460,069 (GRCm39) A890V probably benign Het
Arfgap2 C T 2: 91,097,706 (GRCm39) A141V probably benign Het
Asb2 G A 12: 103,291,811 (GRCm39) P324L probably damaging Het
Brd10 A G 19: 29,732,188 (GRCm39) S342P probably damaging Het
Cacna1g G A 11: 94,354,309 (GRCm39) T202I probably damaging Het
Capn5 A G 7: 97,782,098 (GRCm39) L214P probably damaging Het
Cdh20 A T 1: 104,902,776 (GRCm39) D489V possibly damaging Het
Cers5 C A 15: 99,644,905 (GRCm39) probably benign Het
Chct1 A G 11: 85,069,264 (GRCm39) H94R probably benign Het
Chrnb3 T A 8: 27,883,392 (GRCm39) V111D probably damaging Het
Clec2m T C 6: 129,303,786 (GRCm39) R60G probably benign Het
Colec12 C T 18: 9,858,921 (GRCm39) P568L unknown Het
Cyp2r1 T C 7: 114,149,643 (GRCm39) E248G probably damaging Het
Dnaaf11 A C 15: 66,325,950 (GRCm39) D208E probably benign Het
Dnmt3b A G 2: 153,516,938 (GRCm39) T536A probably benign Het
Eef2 G A 10: 81,016,126 (GRCm39) V496M possibly damaging Het
Fam118a T C 15: 84,930,081 (GRCm39) probably benign Het
Fer1l6 T A 15: 58,509,763 (GRCm39) probably null Het
Fhad1 A C 4: 141,682,651 (GRCm39) F497V probably benign Het
Gbe1 G A 16: 70,275,274 (GRCm39) G358D probably damaging Het
Gdf10 A G 14: 33,646,058 (GRCm39) D69G probably damaging Het
Ggt6 A G 11: 72,327,644 (GRCm39) H150R possibly damaging Het
Gm45713 A T 7: 44,783,882 (GRCm39) L110Q probably damaging Het
Gm9847 T C 12: 14,544,649 (GRCm39) noncoding transcript Het
Grwd1 T C 7: 45,480,054 (GRCm39) E51G probably damaging Het
Gvin3 A T 7: 106,201,028 (GRCm39) Y739N probably damaging Het
H13 A G 2: 152,522,987 (GRCm39) Y100C probably damaging Het
Kcne1 A C 16: 92,145,697 (GRCm39) M49R probably damaging Het
Kcnma1 C T 14: 23,576,835 (GRCm39) R236H probably damaging Het
Knl1 T A 2: 118,888,886 (GRCm39) probably benign Het
Krt40 T C 11: 99,432,565 (GRCm39) I150M probably damaging Het
Ldb2 A T 5: 44,630,841 (GRCm39) V300E probably damaging Het
Lrp1b A T 2: 40,615,919 (GRCm39) C3606S probably damaging Het
Lrrc42 A G 4: 107,104,917 (GRCm39) I16T probably damaging Het
Mtus1 G T 8: 41,455,398 (GRCm39) L87I possibly damaging Het
Myot T C 18: 44,470,053 (GRCm39) F10S probably damaging Het
Nrg3 A T 14: 38,098,413 (GRCm39) H480Q probably damaging Het
Or52b2 G A 7: 104,986,129 (GRCm39) R265C probably benign Het
Or5ac23 A T 16: 59,149,783 (GRCm39) F30I probably damaging Het
Prl2c5 A T 13: 13,366,390 (GRCm39) D220V probably damaging Het
Rbm17 G A 2: 11,592,590 (GRCm39) S295L probably benign Het
Serpina6 A G 12: 103,613,172 (GRCm39) I376T probably damaging Het
Slc27a1 T C 8: 72,037,106 (GRCm39) Y417H possibly damaging Het
Slc6a1 T G 6: 114,281,813 (GRCm39) I32S possibly damaging Het
Sntb1 T C 15: 55,769,540 (GRCm39) T150A probably damaging Het
Tanc1 T A 2: 59,665,791 (GRCm39) C1183* probably null Het
Tmprss7 C A 16: 45,511,206 (GRCm39) W57C probably damaging Het
Ubac1 A T 2: 25,911,440 (GRCm39) V36E possibly damaging Het
Zfc3h1 T C 10: 115,242,630 (GRCm39) probably benign Het
Zfp644 C T 5: 106,784,771 (GRCm39) C592Y probably damaging Het
Other mutations in Sh2d2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Sh2d2a APN 3 87,759,136 (GRCm39) missense probably benign 0.00
IGL01563:Sh2d2a APN 3 87,759,432 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- AGCCTCTAGGATGCTATCTGGTGC -3'
(R):5'- CCGGTCATGGATTGGGTTGAGAAAG -3'

Sequencing Primer
(F):5'- TCAGCGAGAGTGCTGTGAC -3'
(R):5'- GGCAGAGAGGCCAGTAACTTG -3'
Posted On 2013-04-16