Incidental Mutation 'R5251:Sh2d1b2'
ID 399007
Institutional Source Beutler Lab
Gene Symbol Sh2d1b2
Ensembl Gene ENSMUSG00000073494
Gene Name SH2 domain containing 1B2
Synonyms Sh2d1c, Eat2b, Ert
MMRRC Submission 042822-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5251 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 170060440-170079156 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 170077642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 81 (E81D)
Ref Sequence ENSEMBL: ENSMUSP00000125121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097470] [ENSMUST00000162752]
AlphaFold Q45HK4
Predicted Effect probably benign
Transcript: ENSMUST00000097470
SMART Domains Protein: ENSMUSP00000137939
Gene: ENSMUSG00000073494

DomainStartEndE-ValueType
SH2 3 57 6.88e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162752
AA Change: E81D

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000125121
Gene: ENSMUSG00000073494
AA Change: E81D

DomainStartEndE-ValueType
SH2 3 92 4.98e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180378
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in altered natural killer cell function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1 A T 5: 36,108,236 (GRCm39) E194V probably damaging Het
Ankrd16 T A 2: 11,783,552 (GRCm39) D51E probably damaging Het
Arhgef5 A G 6: 43,249,815 (GRCm39) T189A possibly damaging Het
Camk4 A G 18: 33,317,932 (GRCm39) D363G probably benign Het
Camta1 A G 4: 151,248,341 (GRCm39) I199T probably damaging Het
Ccdc141 C T 2: 76,858,118 (GRCm39) C1021Y probably damaging Het
Cdc34 C T 10: 79,521,090 (GRCm39) S129L probably damaging Het
Cenph T A 13: 100,898,348 (GRCm39) N185I possibly damaging Het
Colq A G 14: 31,261,776 (GRCm39) probably null Het
Dph2 A T 4: 117,747,543 (GRCm39) D280E probably damaging Het
Exosc5 A G 7: 25,367,180 (GRCm39) Y224C probably damaging Het
Fgfr3 C T 5: 33,892,900 (GRCm39) probably benign Het
Hs3st6 T A 17: 24,976,959 (GRCm39) D146E probably benign Het
Igkv13-84 A T 6: 68,916,772 (GRCm39) Q23L probably benign Het
Macf1 A G 4: 123,343,760 (GRCm39) V2154A probably benign Het
Man1a2 T C 3: 100,527,415 (GRCm39) E225G probably damaging Het
Mertk T C 2: 128,571,375 (GRCm39) S110P probably damaging Het
Nav3 A G 10: 109,689,114 (GRCm39) F388L probably damaging Het
Nme8 T C 13: 19,844,795 (GRCm39) N98S probably benign Het
Nup205 A G 6: 35,173,417 (GRCm39) probably null Het
Prl7d1 T C 13: 27,893,227 (GRCm39) N228S probably benign Het
Prss23 T C 7: 89,159,530 (GRCm39) K180E probably damaging Het
Psap G A 10: 60,137,479 (GRCm39) D549N probably damaging Het
Sec16a A G 2: 26,329,357 (GRCm39) V886A probably benign Het
Tbx6 A T 7: 126,382,516 (GRCm39) N254I probably damaging Het
Tchhl1 T C 3: 93,377,860 (GRCm39) V188A possibly damaging Het
Trpc3 A T 3: 36,725,103 (GRCm39) L291Q probably damaging Het
Zbtb38 G T 9: 96,569,161 (GRCm39) T641N probably benign Het
Other mutations in Sh2d1b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7394:Sh2d1b2 UTSW 1 170,075,716 (GRCm39) missense probably damaging 0.97
R8077:Sh2d1b2 UTSW 1 170,075,742 (GRCm39) missense possibly damaging 0.93
R9125:Sh2d1b2 UTSW 1 170,075,751 (GRCm39) missense possibly damaging 0.57
X0063:Sh2d1b2 UTSW 1 170,077,626 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGGGTTCCACTGGCCTCTTAC -3'
(R):5'- GAAATTGTGCTTCTAGGATGAAGG -3'

Sequencing Primer
(F):5'- ACTTTCTGCTTGTCAACTCTTAGAAG -3'
(R):5'- AAGTCATCAGTTTCCATTGACTCTG -3'
Posted On 2016-07-06