Incidental Mutation 'R3622:Tyk2'
ID 268675
Institutional Source Beutler Lab
Gene Symbol Tyk2
Ensembl Gene ENSMUSG00000032175
Gene Name tyrosine kinase 2
Synonyms JTK1
MMRRC Submission 040677-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3622 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 21015364-21042539 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 21038606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 8 (C8S)
Ref Sequence ENSEMBL: ENSMUSP00000150214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001036] [ENSMUST00000214454] [ENSMUST00000214864] [ENSMUST00000216874]
AlphaFold Q9R117
Predicted Effect possibly damaging
Transcript: ENSMUST00000001036
AA Change: C8S

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: C8S

DomainStartEndE-ValueType
B41 29 301 1.51e-26 SMART
Blast:B41 408 460 3e-12 BLAST
SH2 470 562 1.26e-2 SMART
STYKc 612 886 8.89e-15 SMART
TyrKc 917 1189 6.48e-114 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135674
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213717
Predicted Effect probably damaging
Transcript: ENSMUST00000214454
AA Change: C8S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214615
Predicted Effect probably damaging
Transcript: ENSMUST00000214864
AA Change: C8S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216874
AA Change: C8S

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with hyperimmunoglobulin E syndrome (HIES) - a primary immunodeficiency characterized by elevated serum immunoglobulin E. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are viable and fertile, but differ from wild-type with respect to interleukin 12 mediated T cell function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T A 7: 119,950,036 (GRCm39) Y503* probably null Het
Akap9 C A 5: 4,026,235 (GRCm39) Q1297K possibly damaging Het
Dffb T C 4: 154,049,976 (GRCm39) T296A probably damaging Het
Dpf1 G A 7: 29,015,631 (GRCm39) probably null Het
Elp1 A T 4: 56,759,925 (GRCm39) probably null Het
Grid2ip T C 5: 143,371,774 (GRCm39) S666P probably damaging Het
Gucy2e T A 11: 69,115,877 (GRCm39) E835V probably damaging Het
Hdac5 G A 11: 102,086,644 (GRCm39) P120S probably benign Het
Htr1d T C 4: 136,170,815 (GRCm39) I348T probably damaging Het
Hyal4 A T 6: 24,765,737 (GRCm39) S364C probably damaging Het
Igkv1-133 A T 6: 67,701,944 (GRCm39) Q16L probably benign Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Met A T 6: 17,549,085 (GRCm39) D979V probably damaging Het
Mga A G 2: 119,772,245 (GRCm39) T1702A probably damaging Het
Midn A G 10: 79,986,144 (GRCm39) D78G probably benign Het
Muc5b T C 7: 141,405,595 (GRCm39) probably benign Het
Oma1 T C 4: 103,223,288 (GRCm39) I491T probably benign Het
Or1e30 A G 11: 73,678,567 (GRCm39) T268A probably benign Het
Or5ak24 C T 2: 85,260,837 (GRCm39) C112Y probably benign Het
Or5b107 T A 19: 13,143,020 (GRCm39) M214K probably benign Het
Or8b48 A G 9: 38,492,792 (GRCm39) Y73C probably damaging Het
Pbld2 T C 10: 62,897,470 (GRCm39) L57P probably damaging Het
Phka2 T A X: 159,327,291 (GRCm39) Y334* probably null Het
Plin4 G T 17: 56,411,112 (GRCm39) T973K possibly damaging Het
R3hdm4 C T 10: 79,748,515 (GRCm39) R143H possibly damaging Het
Rps18 G C 17: 34,171,247 (GRCm39) probably null Het
Samd9l A T 6: 3,374,032 (GRCm39) C1076* probably null Het
Scml4 T C 10: 42,806,607 (GRCm39) probably benign Het
Slc16a10 A G 10: 40,017,890 (GRCm39) V48A probably benign Het
Slc6a5 T C 7: 49,567,371 (GRCm39) V275A probably benign Het
Smad9 C T 3: 54,696,705 (GRCm39) R257W probably damaging Het
Snrpb C A 2: 130,017,299 (GRCm39) R73L probably null Het
Srsf9 C T 5: 115,468,571 (GRCm39) A69V probably damaging Het
Stfa2 A G 16: 36,224,433 (GRCm39) Y90H probably damaging Het
Tgm6 T A 2: 129,993,681 (GRCm39) V640E possibly damaging Het
Tnrc6c C T 11: 117,640,451 (GRCm39) R1414C probably damaging Het
Upp2 G A 2: 58,680,128 (GRCm39) R300Q possibly damaging Het
Utp20 A G 10: 88,593,855 (GRCm39) probably benign Het
Veph1 C T 3: 66,122,858 (GRCm39) V224I probably benign Het
Vmn1r30 A T 6: 58,412,437 (GRCm39) F132I probably benign Het
Vmn2r116 A G 17: 23,605,025 (GRCm39) S113G probably benign Het
Vps53 A C 11: 76,008,609 (GRCm39) V237G probably benign Het
Other mutations in Tyk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Tyk2 APN 9 21,031,884 (GRCm39) missense probably benign 0.27
IGL01015:Tyk2 APN 9 21,031,996 (GRCm39) missense probably benign 0.00
IGL01096:Tyk2 APN 9 21,020,159 (GRCm39) missense probably damaging 1.00
IGL01410:Tyk2 APN 9 21,020,660 (GRCm39) missense probably damaging 1.00
IGL01613:Tyk2 APN 9 21,031,872 (GRCm39) missense probably damaging 0.99
IGL01997:Tyk2 APN 9 21,021,790 (GRCm39) missense probably damaging 1.00
IGL02249:Tyk2 APN 9 21,031,703 (GRCm39) missense probably damaging 1.00
IGL02407:Tyk2 APN 9 21,020,523 (GRCm39) splice site probably benign
IGL02538:Tyk2 APN 9 21,022,339 (GRCm39) missense possibly damaging 0.94
IGL03185:Tyk2 APN 9 21,020,680 (GRCm39) missense probably damaging 1.00
conspiracy UTSW 9 21,020,072 (GRCm39) nonsense probably null
fringe UTSW 9 21,020,156 (GRCm39) missense probably benign 0.35
leonard UTSW 9 21,038,416 (GRCm39) splice site probably benign
motorbike UTSW 9 21,016,403 (GRCm39) missense probably damaging 1.00
tyke UTSW 9 21,036,250 (GRCm39) missense probably damaging 1.00
ANU74:Tyk2 UTSW 9 21,027,454 (GRCm39) missense probably damaging 1.00
R0355:Tyk2 UTSW 9 21,025,486 (GRCm39) splice site probably null
R0667:Tyk2 UTSW 9 21,020,167 (GRCm39) missense probably damaging 1.00
R0862:Tyk2 UTSW 9 21,027,463 (GRCm39) missense probably benign 0.00
R0883:Tyk2 UTSW 9 21,022,433 (GRCm39) missense possibly damaging 0.61
R1554:Tyk2 UTSW 9 21,019,218 (GRCm39) missense probably damaging 0.96
R1575:Tyk2 UTSW 9 21,026,758 (GRCm39) missense probably benign 0.00
R1664:Tyk2 UTSW 9 21,031,649 (GRCm39) missense probably damaging 1.00
R1676:Tyk2 UTSW 9 21,026,545 (GRCm39) nonsense probably null
R1843:Tyk2 UTSW 9 21,032,850 (GRCm39) nonsense probably null
R1871:Tyk2 UTSW 9 21,032,737 (GRCm39) missense probably damaging 1.00
R2044:Tyk2 UTSW 9 21,031,637 (GRCm39) missense probably damaging 1.00
R2137:Tyk2 UTSW 9 21,022,281 (GRCm39) intron probably benign
R2197:Tyk2 UTSW 9 21,026,503 (GRCm39) missense probably damaging 1.00
R2883:Tyk2 UTSW 9 21,021,883 (GRCm39) missense probably benign 0.01
R2941:Tyk2 UTSW 9 21,022,415 (GRCm39) missense probably benign 0.00
R3001:Tyk2 UTSW 9 21,020,617 (GRCm39) missense probably benign 0.00
R3002:Tyk2 UTSW 9 21,020,617 (GRCm39) missense probably benign 0.00
R3196:Tyk2 UTSW 9 21,035,328 (GRCm39) missense possibly damaging 0.80
R4024:Tyk2 UTSW 9 21,027,215 (GRCm39) missense probably damaging 1.00
R4459:Tyk2 UTSW 9 21,035,711 (GRCm39) missense probably damaging 1.00
R4604:Tyk2 UTSW 9 21,019,305 (GRCm39) missense probably damaging 1.00
R4664:Tyk2 UTSW 9 21,025,503 (GRCm39) missense probably damaging 0.99
R4666:Tyk2 UTSW 9 21,025,503 (GRCm39) missense probably damaging 0.99
R4915:Tyk2 UTSW 9 21,022,433 (GRCm39) missense probably benign 0.41
R4971:Tyk2 UTSW 9 21,031,797 (GRCm39) critical splice donor site probably null
R5014:Tyk2 UTSW 9 21,027,126 (GRCm39) splice site probably null
R5191:Tyk2 UTSW 9 21,018,793 (GRCm39) missense probably damaging 0.98
R5305:Tyk2 UTSW 9 21,020,677 (GRCm39) missense probably damaging 0.99
R5356:Tyk2 UTSW 9 21,027,040 (GRCm39) missense probably benign 0.03
R5501:Tyk2 UTSW 9 21,032,908 (GRCm39) missense probably damaging 1.00
R6025:Tyk2 UTSW 9 21,027,256 (GRCm39) missense probably benign 0.05
R6113:Tyk2 UTSW 9 21,019,218 (GRCm39) missense probably damaging 1.00
R6159:Tyk2 UTSW 9 21,021,800 (GRCm39) missense probably damaging 0.99
R6608:Tyk2 UTSW 9 21,019,312 (GRCm39) missense probably benign 0.02
R6610:Tyk2 UTSW 9 21,019,312 (GRCm39) missense probably benign 0.02
R6612:Tyk2 UTSW 9 21,019,312 (GRCm39) missense probably benign 0.02
R6870:Tyk2 UTSW 9 21,036,250 (GRCm39) missense probably damaging 1.00
R7216:Tyk2 UTSW 9 21,031,822 (GRCm39) missense probably benign 0.01
R7218:Tyk2 UTSW 9 21,016,350 (GRCm39) missense probably damaging 1.00
R7298:Tyk2 UTSW 9 21,020,156 (GRCm39) missense probably benign 0.35
R7322:Tyk2 UTSW 9 21,021,500 (GRCm39) missense probably benign
R7347:Tyk2 UTSW 9 21,019,330 (GRCm39) missense probably damaging 0.99
R7759:Tyk2 UTSW 9 21,031,554 (GRCm39) critical splice donor site probably null
R7840:Tyk2 UTSW 9 21,036,263 (GRCm39) missense probably damaging 1.00
R7854:Tyk2 UTSW 9 21,026,776 (GRCm39) missense probably benign
R7914:Tyk2 UTSW 9 21,032,851 (GRCm39) missense probably benign 0.01
R8312:Tyk2 UTSW 9 21,026,945 (GRCm39) missense possibly damaging 0.69
R8892:Tyk2 UTSW 9 21,027,463 (GRCm39) missense probably benign 0.00
R8934:Tyk2 UTSW 9 21,038,416 (GRCm39) splice site probably benign
R9013:Tyk2 UTSW 9 21,016,403 (GRCm39) missense probably damaging 1.00
R9091:Tyk2 UTSW 9 21,035,841 (GRCm39) missense probably damaging 1.00
R9097:Tyk2 UTSW 9 21,020,072 (GRCm39) nonsense probably null
R9104:Tyk2 UTSW 9 21,026,762 (GRCm39) missense possibly damaging 0.65
R9270:Tyk2 UTSW 9 21,035,841 (GRCm39) missense probably damaging 1.00
Z1177:Tyk2 UTSW 9 21,020,171 (GRCm39) missense probably damaging 1.00
Z1177:Tyk2 UTSW 9 21,016,663 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CACCGACTTTGTGTGCGATG -3'
(R):5'- TTTTCACATGTGCACGCAC -3'

Sequencing Primer
(F):5'- ATGTGGATGCAGACCTCCTC -3'
(R):5'- TCTGGTGCATCTGAAGACAGCTAC -3'
Posted On 2015-02-19