Incidental Mutation 'R6649:Jak2'
ID 527715
Institutional Source Beutler Lab
Gene Symbol Jak2
Ensembl Gene ENSMUSG00000024789
Gene Name Janus kinase 2
Synonyms C81284
MMRRC Submission 044770-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6649 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 29229228-29290480 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29266110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 517 (I517N)
Ref Sequence ENSEMBL: ENSMUSP00000064394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025705] [ENSMUST00000065796]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025705
AA Change: I517N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000025705
Gene: ENSMUSG00000024789
AA Change: I517N

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 benign
Transcript: ENSMUST00000065796
AA Change: I517N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000064394
Gene: ENSMUSG00000024789
AA Change: I517N

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 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 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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T A 19: 43,800,941 (GRCm39) H627Q probably benign Het
Abra G A 15: 41,732,629 (GRCm39) L146F probably benign Het
Adamts7 T C 9: 90,073,990 (GRCm39) C857R probably damaging Het
Ankhd1 A T 18: 36,733,836 (GRCm39) probably null Het
Asb15 A G 6: 24,562,632 (GRCm39) N198S probably benign Het
Asb16 A T 11: 102,159,863 (GRCm39) Q72L possibly damaging Het
Atosa T G 9: 74,917,432 (GRCm39) L677R probably damaging Het
Bbox1 G T 2: 110,135,914 (GRCm39) H22N probably benign Het
Bcdin3d T C 15: 99,368,696 (GRCm39) T168A probably damaging Het
Bmp1 A T 14: 70,728,058 (GRCm39) W624R probably damaging Het
Cdh18 A T 15: 23,436,620 (GRCm39) Y492F possibly damaging Het
Cep290 A C 10: 100,354,393 (GRCm39) D848A probably benign Het
Cip2a A T 16: 48,837,829 (GRCm39) Q843L probably damaging Het
Cmya5 G C 13: 93,234,533 (GRCm39) S185C possibly damaging Het
Cops9 C T 1: 92,568,136 (GRCm39) probably benign Het
Cutal C T 2: 34,775,933 (GRCm39) T88I probably benign Het
Dlg4 G T 11: 69,914,779 (GRCm39) probably benign Het
Dnah7c C A 1: 46,688,500 (GRCm39) T1890K probably benign Het
Dnah7c A G 1: 46,688,511 (GRCm39) S1894G probably benign Het
Eef2 CCC CCCC 10: 81,014,602 (GRCm39) probably null Het
Erp44 T C 4: 48,205,130 (GRCm39) I288V probably null Het
Fat3 T C 9: 16,288,038 (GRCm39) D495G probably damaging Het
Fsip2 T C 2: 82,798,161 (GRCm39) V485A possibly damaging Het
Gm14496 A T 2: 181,639,269 (GRCm39) H453L possibly damaging Het
Gm17027 T C 14: 41,981,236 (GRCm39) T207A unknown Het
Gm6902 T G 7: 22,973,159 (GRCm39) T123P possibly damaging Het
Gpat2 T G 2: 127,274,355 (GRCm39) W366G possibly damaging Het
Heatr6 A T 11: 83,650,191 (GRCm39) T216S probably benign Het
Hsd17b14 T C 7: 45,205,500 (GRCm39) V11A probably damaging Het
Kmt5b G A 19: 3,857,295 (GRCm39) G351R probably damaging Het
Mau2 G T 8: 70,484,166 (GRCm39) Q141K possibly damaging Het
Mfsd13a T C 19: 46,356,305 (GRCm39) F137L probably damaging Het
Mfsd13a A G 19: 46,360,704 (GRCm39) H394R probably benign Het
Mfsd14b A T 13: 65,214,599 (GRCm39) I451N probably damaging Het
Milr1 C T 11: 106,648,537 (GRCm39) H143Y probably benign Het
Mon2 T G 10: 122,874,385 (GRCm39) K321T possibly damaging Het
Nlrp9c T A 7: 26,070,747 (GRCm39) N945Y probably damaging Het
Nwd2 A G 5: 63,882,527 (GRCm39) R60G possibly damaging Het
Or2z2 A T 11: 58,346,394 (GRCm39) I127N probably damaging Het
Or52b2 T C 7: 104,986,914 (GRCm39) H3R probably benign Het
Or8g20 A G 9: 39,396,048 (GRCm39) V164A probably benign Het
Papola A T 12: 105,778,566 (GRCm39) I315L possibly damaging Het
Phf3 A T 1: 30,844,104 (GRCm39) S1618R possibly damaging Het
Phyhipl A G 10: 70,404,843 (GRCm39) F77L probably damaging Het
Ppp3cb A G 14: 20,581,094 (GRCm39) L110P probably damaging Het
Prss53 T G 7: 127,485,747 (GRCm39) E531A probably benign Het
Raf1 A T 6: 115,608,302 (GRCm39) H236Q probably benign Het
Ryr2 A G 13: 11,610,529 (GRCm39) V4099A probably damaging Het
Sfxn3 G A 19: 45,038,354 (GRCm39) probably null Het
Sh3pxd2b T C 11: 32,365,978 (GRCm39) probably null Het
Slco6c1 C T 1: 97,053,436 (GRCm39) S155N probably benign Het
Speer4f2 A G 5: 17,580,767 (GRCm39) T115A probably benign Het
Spry1 T C 3: 37,696,871 (GRCm39) I38T probably damaging Het
Tagap T C 17: 8,152,546 (GRCm39) V577A probably benign Het
Ubr4 C A 4: 139,200,935 (GRCm39) H4706Q possibly damaging Het
Vmn2r112 T A 17: 22,820,160 (GRCm39) L11Q probably null Het
Zfp60 T C 7: 27,448,151 (GRCm39) F273S probably benign Het
Zfp938 A T 10: 82,061,232 (GRCm39) Y463N probably damaging Het
Other mutations in Jak2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Jak2 APN 19 29,279,047 (GRCm39) missense probably damaging 1.00
IGL00951:Jak2 APN 19 29,276,983 (GRCm39) missense probably damaging 1.00
IGL01300:Jak2 APN 19 29,287,083 (GRCm39) missense probably damaging 1.00
IGL01800:Jak2 APN 19 29,263,693 (GRCm39) splice site probably benign
IGL02035:Jak2 APN 19 29,263,808 (GRCm39) missense probably benign 0.24
IGL02212:Jak2 APN 19 29,265,382 (GRCm39) missense probably benign 0.01
IGL02447:Jak2 APN 19 29,277,014 (GRCm39) missense probably damaging 1.00
R0001:Jak2 UTSW 19 29,259,787 (GRCm39) missense probably benign 0.01
R0158:Jak2 UTSW 19 29,289,157 (GRCm39) missense probably benign
R0217:Jak2 UTSW 19 29,274,050 (GRCm39) critical splice donor site probably null
R0308:Jak2 UTSW 19 29,289,157 (GRCm39) missense probably benign 0.15
R0344:Jak2 UTSW 19 29,261,029 (GRCm39) missense probably damaging 1.00
R0398:Jak2 UTSW 19 29,259,788 (GRCm39) missense possibly damaging 0.95
R0408:Jak2 UTSW 19 29,263,717 (GRCm39) missense probably benign 0.38
R0453:Jak2 UTSW 19 29,289,238 (GRCm39) missense probably benign 0.01
R0853:Jak2 UTSW 19 29,262,326 (GRCm39) nonsense probably null
R1180:Jak2 UTSW 19 29,259,899 (GRCm39) missense probably damaging 1.00
R1794:Jak2 UTSW 19 29,276,957 (GRCm39) missense probably benign 0.00
R2247:Jak2 UTSW 19 29,261,036 (GRCm39) missense probably benign 0.01
R3908:Jak2 UTSW 19 29,268,673 (GRCm39) missense probably damaging 1.00
R4705:Jak2 UTSW 19 29,272,315 (GRCm39) missense possibly damaging 0.82
R4744:Jak2 UTSW 19 29,239,656 (GRCm39) missense probably benign 0.02
R4814:Jak2 UTSW 19 29,279,377 (GRCm39) missense probably damaging 1.00
R4903:Jak2 UTSW 19 29,252,436 (GRCm39) missense probably benign 0.03
R5602:Jak2 UTSW 19 29,275,739 (GRCm39) missense probably benign 0.01
R5713:Jak2 UTSW 19 29,248,793 (GRCm39) missense probably damaging 0.96
R5740:Jak2 UTSW 19 29,239,824 (GRCm39) missense possibly damaging 0.81
R5758:Jak2 UTSW 19 29,287,043 (GRCm39) missense probably damaging 1.00
R5966:Jak2 UTSW 19 29,260,954 (GRCm39) missense possibly damaging 0.94
R6285:Jak2 UTSW 19 29,273,059 (GRCm39) missense probably benign 0.35
R6439:Jak2 UTSW 19 29,287,022 (GRCm39) splice site probably null
R6624:Jak2 UTSW 19 29,259,989 (GRCm39) missense probably damaging 0.99
R6653:Jak2 UTSW 19 29,266,110 (GRCm39) missense probably benign 0.00
R7084:Jak2 UTSW 19 29,263,798 (GRCm39) missense possibly damaging 0.78
R7180:Jak2 UTSW 19 29,259,811 (GRCm39) missense probably benign 0.01
R7261:Jak2 UTSW 19 29,288,385 (GRCm39) missense possibly damaging 0.82
R7488:Jak2 UTSW 19 29,275,783 (GRCm39) missense probably damaging 0.99
R7537:Jak2 UTSW 19 29,276,037 (GRCm39) missense probably benign 0.00
R7757:Jak2 UTSW 19 29,260,946 (GRCm39) missense probably benign
R7777:Jak2 UTSW 19 29,254,268 (GRCm39) missense probably benign 0.32
R8050:Jak2 UTSW 19 29,275,732 (GRCm39) missense probably damaging 0.98
R8345:Jak2 UTSW 19 29,262,270 (GRCm39) missense probably damaging 1.00
R8524:Jak2 UTSW 19 29,273,105 (GRCm39) missense probably damaging 0.99
R9003:Jak2 UTSW 19 29,254,240 (GRCm39) missense probably benign
R9128:Jak2 UTSW 19 29,278,462 (GRCm39) missense probably damaging 1.00
R9188:Jak2 UTSW 19 29,288,353 (GRCm39) missense probably damaging 0.97
R9197:Jak2 UTSW 19 29,289,157 (GRCm39) missense probably benign 0.15
R9369:Jak2 UTSW 19 29,266,203 (GRCm39) critical splice donor site probably null
R9430:Jak2 UTSW 19 29,265,367 (GRCm39) missense possibly damaging 0.89
R9704:Jak2 UTSW 19 29,275,730 (GRCm39) nonsense probably null
X0058:Jak2 UTSW 19 29,273,111 (GRCm39) missense possibly damaging 0.91
Z1176:Jak2 UTSW 19 29,248,798 (GRCm39) missense possibly damaging 0.58
Predicted Primers PCR Primer
(F):5'- AGCAGCCATTGAGAGATTCTAAG -3'
(R):5'- TGCTGTAAGACTGGCATATTTCCTAAC -3'

Sequencing Primer
(F):5'- GCCATTGAGAGATTCTAAGACACAG -3'
(R):5'- CCACCCAATTATCAAGATTGG -3'
Posted On 2018-07-23