Incidental Mutation 'IGL00839:Jak2'
ID11522
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jak2
Ensembl Gene ENSMUSG00000024789
Gene NameJanus kinase 2
SynonymsC81284
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00839
Quality Score
Status
Chromosome19
Chromosomal Location29251828-29313080 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 29301647 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 933 (P933S)
Ref Sequence ENSEMBL: ENSMUSP00000064394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025705] [ENSMUST00000065796]
Predicted Effect probably damaging
Transcript: ENSMUST00000025705
AA Change: P933S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025705
Gene: ENSMUSG00000024789
AA Change: P933S

DomainStartEndE-ValueType
B41 33 270 8.86e-56 SMART
SH2 397 487 3.03e-18 SMART
STYKc 545 805 1.95e-26 SMART
TyrKc 849 1123 8.61e-119 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000065796
AA Change: P933S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064394
Gene: ENSMUSG00000024789
AA Change: P933S

DomainStartEndE-ValueType
B41 33 270 8.86e-56 SMART
SH2 397 487 3.03e-18 SMART
STYKc 545 805 1.95e-26 SMART
TyrKc 849 1123 8.61e-119 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a protein tyrosine kinase involved in a specific subset of cytokine receptor signaling pathways. It has been found to be constituitively associated with the prolactin receptor and is required for responses to gamma interferon. Mice that do not express an active protein for this gene exhibit embryonic lethality associated with the absence of definitive erythropoiesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for null mutations die during midgestation due to a failure of erythropoieses. Mice expressing a conditional allele activated in mammary tissue exhibit lactation deficiency due to impaired alveologenesis. Mice homozygous for a knock-in allele exhibit myeloproliferative neoplasm. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,660,916 S1031T probably benign Het
a T A 2: 155,045,673 F18I probably benign Het
Acsl4 A T X: 142,339,952 N421K possibly damaging Het
Ampd1 A G 3: 103,099,694 E745G possibly damaging Het
Ankrd44 T C 1: 54,667,435 N436D probably benign Het
Ap1s2 A G X: 163,926,955 Y160C probably damaging Het
Bms1 C T 6: 118,405,291 V429M probably benign Het
Cep57l1 T C 10: 41,731,093 E158G probably damaging Het
Cldn34b4 T A X: 76,397,349 C71S probably damaging Het
Col1a2 C T 6: 4,531,095 probably benign Het
Crisp3 T G 17: 40,239,256 probably null Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Defa24 T A 8: 21,734,697 L54H probably damaging Het
Dennd1a A G 2: 37,816,982 V504A probably benign Het
Eloa G A 4: 136,011,359 R97C probably damaging Het
Espl1 T C 15: 102,320,547 probably benign Het
Fgb T A 3: 83,043,291 R385S possibly damaging Het
Glod4 T A 11: 76,233,278 H223L probably benign Het
Gm13084 T C 4: 143,812,723 T67A probably benign Het
Hrh1 C T 6: 114,480,322 T188I probably damaging Het
Hsph1 G T 5: 149,618,454 A769D possibly damaging Het
Lrrd1 T A 5: 3,850,017 D107E probably benign Het
Osbpl8 T A 10: 111,291,510 S776R probably benign Het
Pcna C T 2: 132,251,420 V136I probably benign Het
Pde11a A G 2: 76,215,385 F365S probably damaging Het
Pi15 A G 1: 17,621,523 H183R probably damaging Het
Plce1 A G 19: 38,698,562 Y638C probably damaging Het
Pnpla6 A G 8: 3,542,299 D1196G probably benign Het
Psg22 A G 7: 18,722,968 I220V probably benign Het
Rap1gap2 A T 11: 74,437,448 Y97N probably damaging Het
Taf2 A T 15: 55,045,778 C690* probably null Het
Taf3 A T 2: 9,952,917 D146E probably damaging Het
Tnrc6c A G 11: 117,714,185 T49A possibly damaging Het
Trdn T C 10: 33,471,606 probably null Het
Ttc29 C T 8: 78,333,756 T435I probably benign Het
Vps37b T C 5: 124,010,751 T74A possibly damaging Het
Zbtb11 T A 16: 56,000,602 Y687* probably null Het
Other mutations in Jak2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00951:Jak2 APN 19 29299583 missense probably damaging 1.00
IGL01300:Jak2 APN 19 29309683 missense probably damaging 1.00
IGL01800:Jak2 APN 19 29286293 splice site probably benign
IGL02035:Jak2 APN 19 29286408 missense probably benign 0.24
IGL02212:Jak2 APN 19 29287982 missense probably benign 0.01
IGL02447:Jak2 APN 19 29299614 missense probably damaging 1.00
R0001:Jak2 UTSW 19 29282387 missense probably benign 0.01
R0158:Jak2 UTSW 19 29311757 missense probably benign
R0217:Jak2 UTSW 19 29296650 critical splice donor site probably null
R0308:Jak2 UTSW 19 29311757 missense probably benign 0.15
R0344:Jak2 UTSW 19 29283629 missense probably damaging 1.00
R0398:Jak2 UTSW 19 29282388 missense possibly damaging 0.95
R0408:Jak2 UTSW 19 29286317 missense probably benign 0.38
R0453:Jak2 UTSW 19 29311838 missense probably benign 0.01
R0853:Jak2 UTSW 19 29284926 nonsense probably null
R1180:Jak2 UTSW 19 29282499 missense probably damaging 1.00
R1794:Jak2 UTSW 19 29299557 missense probably benign 0.00
R2247:Jak2 UTSW 19 29283636 missense probably benign 0.01
R3908:Jak2 UTSW 19 29291273 missense probably damaging 1.00
R4705:Jak2 UTSW 19 29294915 missense possibly damaging 0.82
R4744:Jak2 UTSW 19 29262256 missense probably benign 0.02
R4814:Jak2 UTSW 19 29301977 missense probably damaging 1.00
R4903:Jak2 UTSW 19 29275036 missense probably benign 0.03
R5602:Jak2 UTSW 19 29298339 missense probably benign 0.01
R5713:Jak2 UTSW 19 29271393 missense probably damaging 0.96
R5740:Jak2 UTSW 19 29262424 missense possibly damaging 0.81
R5758:Jak2 UTSW 19 29309643 missense probably damaging 1.00
R5966:Jak2 UTSW 19 29283554 missense possibly damaging 0.94
R6285:Jak2 UTSW 19 29295659 missense probably benign 0.35
R6439:Jak2 UTSW 19 29309622 synonymous probably null
R6624:Jak2 UTSW 19 29282589 missense probably damaging 0.99
R6649:Jak2 UTSW 19 29288710 missense probably benign 0.00
R6653:Jak2 UTSW 19 29288710 missense probably benign 0.00
R7084:Jak2 UTSW 19 29286398 missense possibly damaging 0.78
R7180:Jak2 UTSW 19 29282411 missense probably benign 0.01
R7261:Jak2 UTSW 19 29310985 missense possibly damaging 0.82
X0058:Jak2 UTSW 19 29295711 missense possibly damaging 0.91
Posted On2012-12-06