Incidental Mutation 'R4024:Tyk2'
ID 313400
Institutional Source Beutler Lab
Gene Symbol Tyk2
Ensembl Gene ENSMUSG00000032175
Gene Name tyrosine kinase 2
Synonyms JTK1
MMRRC Submission 041612-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4024 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 21015364-21042539 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 21027215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 552 (L552F)
Ref Sequence ENSEMBL: ENSMUSP00000150354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001036] [ENSMUST00000214454] [ENSMUST00000216874]
AlphaFold Q9R117
Predicted Effect probably damaging
Transcript: ENSMUST00000001036
AA Change: L552F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: L552F

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: L529F

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000216874
AA Change: L552F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Meta Mutation Damage Score 0.2436 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 98% (58/59)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A G 12: 80,215,251 (GRCm39) Y842H probably damaging Het
Adamts9 A G 6: 92,849,765 (GRCm39) probably benign Het
Adgrg7 A T 16: 56,550,661 (GRCm39) Y684N probably damaging Het
Aoc1 A T 6: 48,885,203 (GRCm39) N646I probably damaging Het
Armc2 A G 10: 41,869,054 (GRCm39) S37P probably benign Het
Bhmt2 G A 13: 93,799,839 (GRCm39) probably benign Het
Bpifb1 A T 2: 154,054,966 (GRCm39) D286V probably damaging Het
Cadps T A 14: 12,705,539 (GRCm38) E285D probably damaging Het
Cap2 C T 13: 46,791,317 (GRCm39) probably benign Het
Clcn4 T G 7: 7,293,427 (GRCm39) Y443S probably damaging Het
Clcn6 T A 4: 148,098,740 (GRCm39) T463S possibly damaging Het
Cmip A G 8: 118,174,155 (GRCm39) I412V possibly damaging Het
Cndp1 T C 18: 84,646,938 (GRCm39) D250G probably damaging Het
Colec10 A G 15: 54,325,947 (GRCm39) D259G probably damaging Het
Ctnna2 A T 6: 77,613,827 (GRCm39) D254E possibly damaging Het
Dlec1 T C 9: 118,966,408 (GRCm39) Y1126H probably damaging Het
Dzank1 T C 2: 144,324,147 (GRCm39) S565G probably benign Het
Eef2k A G 7: 120,457,821 (GRCm39) Y60C probably benign Het
Fbxl4 T C 4: 22,377,074 (GRCm39) V170A possibly damaging Het
Foxk2 T A 11: 121,176,439 (GRCm39) I195N possibly damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gpr6 G A 10: 40,947,264 (GRCm39) T106M probably damaging Het
Grk3 T A 5: 113,062,850 (GRCm39) N666Y possibly damaging Het
Hnmt T C 2: 23,893,777 (GRCm39) D239G probably benign Het
Igf2 A G 7: 142,208,044 (GRCm39) V111A probably benign Het
Lrriq3 G A 3: 154,893,939 (GRCm39) E547K probably benign Het
Lrriq4 T C 3: 30,704,422 (GRCm39) V150A possibly damaging Het
Mroh8 A G 2: 157,098,272 (GRCm39) V292A probably benign Het
Myo1e A G 9: 70,232,157 (GRCm39) I229V probably benign Het
Nisch A G 14: 30,898,776 (GRCm39) probably benign Het
Nkx2-2 T C 2: 147,026,154 (GRCm39) T195A probably benign Het
Or10aa3 C T 1: 173,878,683 (GRCm39) T248I probably benign Het
Or2t47 G A 11: 58,442,222 (GRCm39) T281I possibly damaging Het
Or5p63 A T 7: 107,810,949 (GRCm39) Y262* probably null Het
Or8w1 T A 2: 87,465,499 (GRCm39) L197F probably damaging Het
Plekhn1 A G 4: 156,309,207 (GRCm39) V233A probably damaging Het
Ppp3r1 T C 11: 17,144,786 (GRCm39) V133A probably damaging Het
Sash1 T C 10: 8,605,681 (GRCm39) D903G probably benign Het
Scn8a A G 15: 100,937,674 (GRCm39) D1681G probably damaging Het
Slk A G 19: 47,610,809 (GRCm39) probably null Het
Tasor2 T C 13: 3,634,554 (GRCm39) D751G probably damaging Het
Tlr11 C T 14: 50,600,303 (GRCm39) T763I probably benign Het
Ttbk2 T C 2: 120,590,736 (GRCm39) T308A possibly damaging Het
Ubp1 A G 9: 113,773,951 (GRCm39) D50G probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ulk4 A T 9: 120,873,915 (GRCm39) I1172N possibly damaging Het
Usf3 T A 16: 44,036,528 (GRCm39) V336E possibly damaging Het
Vangl2 T C 1: 171,835,608 (GRCm39) S355G probably benign Het
Vmn1r216 A G 13: 23,284,061 (GRCm39) D248G probably damaging Het
Vmn1r34 T A 6: 66,614,688 (GRCm39) M17L probably benign Het
Vmn2r120 T A 17: 57,843,718 (GRCm39) D42V possibly damaging Het
Vmn2r6 A T 3: 64,445,671 (GRCm39) S685T possibly damaging Het
Vsig10l T C 7: 43,117,510 (GRCm39) V701A probably benign Het
Wdfy3 A G 5: 102,071,961 (GRCm39) probably benign Het
Zfp808 T A 13: 62,319,544 (GRCm39) C258S possibly damaging Het
Zfp988 A C 4: 147,417,242 (GRCm39) K559Q 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
R3622:Tyk2 UTSW 9 21,038,606 (GRCm39) missense probably damaging 0.98
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'- GATTTCTAGGCACAGGAGTGGAC -3'
(R):5'- TTACCGTGGCCCATCGAAAC -3'

Sequencing Primer
(F):5'- AGTGGACATCGCCCTTGTG -3'
(R):5'- AGGGCTGGGAGGTACACC -3'
Posted On 2015-04-30