Incidental Mutation 'R7757:Jak2'
ID 597650
Institutional Source Beutler Lab
Gene Symbol Jak2
Ensembl Gene ENSMUSG00000024789
Gene Name Janus kinase 2
Synonyms C81284
MMRRC Submission 045813-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7757 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 29229228-29290480 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29260946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 314 (V314A)
Ref Sequence ENSEMBL: ENSMUSP00000025705 (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: V314A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025705
Gene: ENSMUSG00000024789
AA Change: V314A

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: V314A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000064394
Gene: ENSMUSG00000024789
AA Change: V314A

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (70/73)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G A 12: 71,236,187 (GRCm39) M1179I probably benign Het
6430550D23Rik T C 2: 155,845,351 (GRCm39) T18A possibly damaging Het
Acox2 T C 14: 8,230,166 (GRCm38) N659S probably damaging Het
Agk T C 6: 40,353,212 (GRCm39) V192A possibly damaging Het
Ap3b1 T A 13: 94,664,666 (GRCm39) probably null Het
Bche T A 3: 73,608,454 (GRCm39) D324V probably damaging Het
Bsn A G 9: 107,991,939 (GRCm39) I1271T possibly damaging Het
Capn12 T C 7: 28,582,246 (GRCm39) L120P probably damaging Het
Cep290 T A 10: 100,399,296 (GRCm39) S2273T probably benign Het
Ckap4 T C 10: 84,364,331 (GRCm39) E244G probably damaging Het
Clcn7 T C 17: 25,375,796 (GRCm39) Y545H probably damaging Het
Cmya5 T A 13: 93,234,780 (GRCm39) T103S possibly damaging Het
Cplane1 A T 15: 8,281,711 (GRCm39) E2850V unknown Het
Cpne9 G A 6: 113,261,406 (GRCm39) V121M possibly damaging Het
Csmd2 T A 4: 128,377,249 (GRCm39) I2043N Het
Disc1 A G 8: 125,814,243 (GRCm39) T36A probably benign Het
Disp2 T C 2: 118,621,391 (GRCm39) Y708H probably damaging Het
Dnah3 A G 7: 119,670,793 (GRCm39) V635A probably benign Het
Dnah3 A T 7: 119,570,438 (GRCm39) probably null Het
Dync1li1 A G 9: 114,538,345 (GRCm39) H234R possibly damaging Het
Egfr T C 11: 16,839,966 (GRCm39) V660A possibly damaging Het
Epb42 T C 2: 120,858,200 (GRCm39) R253G possibly damaging Het
Fat2 T A 11: 55,202,247 (GRCm39) T276S probably benign Het
Fcho2 A G 13: 98,901,011 (GRCm39) probably null Het
Ginm1 A T 10: 7,655,119 (GRCm39) I41N probably damaging Het
Gm4744 A G 6: 40,927,367 (GRCm39) probably benign Het
Gm49368 C T 7: 127,711,398 (GRCm39) R701C probably damaging Het
Gpr37 T A 6: 25,688,207 (GRCm39) I297F probably benign Het
Gprc5a T A 6: 135,056,342 (GRCm39) I263N possibly damaging Het
Gys2 A T 6: 142,400,177 (GRCm39) S345T probably benign Het
Hk2 T C 6: 82,719,896 (GRCm39) M255V possibly damaging Het
Ibtk A C 9: 85,579,290 (GRCm39) S1202A possibly damaging Het
Il23r T G 6: 67,400,965 (GRCm39) D455A probably benign Het
Irs2 T A 8: 11,056,522 (GRCm39) K637* probably null Het
Mei1 C T 15: 81,966,824 (GRCm39) probably benign Het
Mill1 T C 7: 17,996,391 (GRCm39) M69T probably benign Het
Mms22l T C 4: 24,598,884 (GRCm39) probably null Het
Mup8 C A 4: 60,220,332 (GRCm39) Q133H probably benign Het
Mup8 T A 4: 60,220,333 (GRCm39) Q133L probably benign Het
Mycbp2 A T 14: 103,429,055 (GRCm39) Y2374N probably damaging Het
Nbeal1 A T 1: 60,296,609 (GRCm39) K1166N probably damaging Het
Nlrc4 T A 17: 74,755,191 (GRCm39) R8S probably benign Het
Nrcam C T 12: 44,596,681 (GRCm39) Q25* probably null Het
Nudt16 A C 9: 105,008,760 (GRCm39) M47R probably damaging Het
Nup62 T C 7: 44,478,419 (GRCm39) S145P probably benign Het
Or10d1 A G 9: 39,483,761 (GRCm39) W265R probably benign Het
Or4c117 T C 2: 88,955,333 (GRCm39) I247M possibly damaging Het
Osbpl1a A T 18: 13,066,657 (GRCm39) V34D probably benign Het
Otogl T A 10: 107,712,782 (GRCm39) N521Y probably damaging Het
Pcdhb14 T A 18: 37,582,887 (GRCm39) D664E possibly damaging Het
Pex5l T C 3: 33,136,300 (GRCm39) probably benign Het
Pkhd1 A G 1: 20,632,639 (GRCm39) L592P probably damaging Het
Plxdc2 A G 2: 16,734,187 (GRCm39) H480R probably benign Het
Rnf216 T A 5: 143,065,991 (GRCm39) K532N probably damaging Het
Schip1 C A 3: 68,525,028 (GRCm39) Q358K probably damaging Het
Sdc2 A T 15: 33,028,233 (GRCm39) E117V possibly damaging Het
Septin11 A T 5: 93,319,323 (GRCm39) probably null Het
Shprh A T 10: 11,037,924 (GRCm39) E420V probably benign Het
Ska1 T A 18: 74,330,044 (GRCm39) H232L probably benign Het
Slc36a4 A G 9: 15,630,956 (GRCm39) N25S possibly damaging Het
Slitrk3 G A 3: 72,958,172 (GRCm39) T200M probably damaging Het
Smad2 C T 18: 76,421,084 (GRCm39) H138Y probably benign Het
Snx21 T C 2: 164,628,085 (GRCm39) S34P probably damaging Het
Sos2 A G 12: 69,695,359 (GRCm39) V126A probably damaging Het
Srcap C T 7: 127,129,966 (GRCm39) T596I probably damaging Het
Stk31 T G 6: 49,383,877 (GRCm39) probably null Het
Stox1 T C 10: 62,499,743 (GRCm39) D939G probably damaging Het
Syne2 G T 12: 76,108,553 (GRCm39) C979F possibly damaging Het
Tanc2 C A 11: 105,667,684 (GRCm39) N88K possibly damaging Het
Tll2 A T 19: 41,084,447 (GRCm39) V677E probably damaging Het
Ttn T C 2: 76,748,834 (GRCm39) T4072A probably benign Het
Unc13b CAGAGC CAGAGCGAGAGC 4: 43,177,341 (GRCm39) probably benign Het
Unc13b CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC 4: 43,177,312 (GRCm39) probably benign Het
Unc13b AGAGCC AGAGCCCGAGCC 4: 43,177,330 (GRCm39) probably benign Het
Vmn2r43 A T 7: 8,258,253 (GRCm39) F320Y possibly damaging Het
Zscan4f G T 7: 11,135,205 (GRCm39) G204* probably null 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
R6649:Jak2 UTSW 19 29,266,110 (GRCm39) missense probably benign 0.00
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
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'- GGTTAAGTTCTGTATCACACTGTC -3'
(R):5'- GCACTCTTTAGAGCATACTTACGG -3'

Sequencing Primer
(F):5'- CATTACAGATGGTTGTGAGCCACC -3'
(R):5'- ACCATCTTGTTTATGGACAG -3'
Posted On 2019-11-26