Incidental Mutation 'R1082:Tyrobp'
ID 85867
Institutional Source Beutler Lab
Gene Symbol Tyrobp
Ensembl Gene ENSMUSG00000030579
Gene Name TYRO protein tyrosine kinase binding protein
Synonyms killer cell activating receptor associated protein, DAP12, KARAP
MMRRC Submission 039168-MU
Accession Numbers
Essential gene? Not available question?
Stock # R1082 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 30113207-30117007 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30114033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 65 (S65P)
Ref Sequence ENSEMBL: ENSMUSP00000032800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032800] [ENSMUST00000075062] [ENSMUST00000208740]
AlphaFold O54885
Predicted Effect probably damaging
Transcript: ENSMUST00000032800
AA Change: S65P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032800
Gene: ENSMUSG00000030579
AA Change: S65P

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
PDB:2L35|A 37 78 3e-12 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000075062
SMART Domains Protein: ENSMUSP00000074573
Gene: ENSMUSG00000064109

DomainStartEndE-ValueType
Pfam:DAP10 1 79 4.7e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207504
Predicted Effect unknown
Transcript: ENSMUST00000207982
AA Change: S91P
Predicted Effect unknown
Transcript: ENSMUST00000208125
AA Change: S60P
Predicted Effect probably benign
Transcript: ENSMUST00000208740
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for targeted null mutations exhibit osteopetrosis, hypomyelination (especially of the thalamus), synaptic degeneration, and impaired oligodendrocyte, NK, and dendritic cell function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik G A 3: 137,879,332 (GRCm39) R239C possibly damaging Het
Aass T A 6: 23,093,907 (GRCm39) D138V probably damaging Het
Adam30 T C 3: 98,069,606 (GRCm39) S480P probably benign Het
Bdkrb2 T A 12: 105,558,851 (GRCm39) M364K probably benign Het
Bnc2 T C 4: 84,464,572 (GRCm39) D67G probably damaging Het
Cfap52 A G 11: 67,815,998 (GRCm39) I595T probably damaging Het
Clspn A T 4: 126,471,572 (GRCm39) N909Y possibly damaging Het
Ddx46 T C 13: 55,802,909 (GRCm39) V477A possibly damaging Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Dnah3 A G 7: 119,677,668 (GRCm39) S419P probably damaging Het
Fat3 A G 9: 15,917,911 (GRCm39) F1504S probably damaging Het
Guf1 G T 5: 69,724,555 (GRCm39) V416L possibly damaging Het
Hsd11b2 A G 8: 106,249,783 (GRCm39) D298G probably damaging Het
Mipol1 A T 12: 57,372,402 (GRCm39) I154F probably damaging Het
Myo18b A G 5: 112,908,280 (GRCm39) S1998P probably damaging Het
Myo6 C T 9: 80,195,303 (GRCm39) T891M probably damaging Het
Nbeal1 T A 1: 60,351,385 (GRCm39) I2461K probably damaging Het
Notch4 T C 17: 34,806,364 (GRCm39) F1767S probably damaging Het
Or7e178 A T 9: 20,225,765 (GRCm39) H150Q possibly damaging Het
Pi4ka A T 16: 17,207,216 (GRCm39) S30T probably damaging Het
Ppp1r26 A G 2: 28,342,146 (GRCm39) D592G probably damaging Het
Ptp4a2 T C 4: 129,741,580 (GRCm39) F157L probably benign Het
Sf3b1 C G 1: 55,058,554 (GRCm39) E12Q possibly damaging Het
Shank3 T C 15: 89,433,574 (GRCm39) S1365P probably damaging Het
Slc27a6 T A 18: 58,689,632 (GRCm39) Y33N probably damaging Het
Slco1a7 C T 6: 141,657,859 (GRCm39) G560S probably damaging Het
Speg T A 1: 75,391,782 (GRCm39) S1572T possibly damaging Het
Taf6 G A 5: 138,180,949 (GRCm39) R211C possibly damaging Het
Other mutations in Tyrobp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01080:Tyrobp APN 7 30,116,841 (GRCm39) splice site probably null
R0383:Tyrobp UTSW 7 30,114,042 (GRCm39) missense probably damaging 1.00
R7972:Tyrobp UTSW 7 30,114,063 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GGGGACATTGAAGCTCACAGATATACC -3'
(R):5'- GCATTTGCAGTTCAAATGGGAGGC -3'

Sequencing Primer
(F):5'- acctcaacctttctattctctgtc -3'
(R):5'- ATGGGAGGCCCCATTTGG -3'
Posted On 2013-11-18