Incidental Mutation 'R5602:Jak2'
ID 439112
Institutional Source Beutler Lab
Gene Symbol Jak2
Ensembl Gene ENSMUSG00000024789
Gene Name Janus kinase 2
Synonyms C81284
MMRRC Submission 043154-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5602 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 29229228-29290480 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29275739 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 726 (N726K)
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: N726K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000025705
Gene: ENSMUSG00000024789
AA Change: N726K

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: N726K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000064394
Gene: ENSMUSG00000024789
AA Change: N726K

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: 98.6%
  • 20x: 96.2%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik G A 2: 151,315,459 (GRCm39) S73F possibly damaging Het
4932414N04Rik A T 2: 68,578,712 (GRCm39) *753L probably null Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adam19 T C 11: 46,027,142 (GRCm39) S592P probably benign Het
Adamtsl3 A G 7: 82,206,447 (GRCm39) K843R possibly damaging Het
Ap2a2 A T 7: 141,184,855 (GRCm39) T213S probably benign Het
Asb5 A G 8: 55,038,974 (GRCm39) E280G probably benign Het
Becn1 T C 11: 101,179,778 (GRCm39) D403G probably damaging Het
Ccr7 G T 11: 99,036,315 (GRCm39) N202K probably benign Het
Cd36 T C 5: 18,019,790 (GRCm39) T104A possibly damaging Het
Cnot4 C T 6: 35,028,464 (GRCm39) W384* probably null Het
Col15a1 G A 4: 47,312,087 (GRCm39) V1301M probably damaging Het
Dock2 C A 11: 34,204,391 (GRCm39) A1384S probably benign Het
Ehbp1l1 T C 19: 5,758,698 (GRCm39) E1648G possibly damaging Het
Fbn1 G T 2: 125,163,661 (GRCm39) A2065E possibly damaging Het
Fras1 A G 5: 96,884,880 (GRCm39) Y2586C probably damaging Het
Galm T A 17: 80,457,568 (GRCm39) Y28* probably null Het
Ggt7 A G 2: 155,332,919 (GRCm39) V648A possibly damaging Het
Gm17067 T A 7: 42,357,839 (GRCm39) D221V probably damaging Het
Gpr3 T C 4: 132,937,805 (GRCm39) N289S probably damaging Het
Ighv11-2 A G 12: 114,012,277 (GRCm39) probably benign Het
Ighv11-2 G A 12: 114,012,099 (GRCm39) L39F probably damaging Het
Ipo9 G A 1: 135,329,983 (GRCm39) L486F probably damaging Het
Map4 T C 9: 109,881,768 (GRCm39) S211P possibly damaging Het
Mlh1 A T 9: 111,081,946 (GRCm39) L259Q probably damaging Het
Naa25 A G 5: 121,558,558 (GRCm39) E300G probably benign Het
Or8g34 A T 9: 39,373,326 (GRCm39) M200L probably benign Het
Or8g54 T A 9: 39,707,490 (GRCm39) V273E possibly damaging Het
Parva G A 7: 112,166,972 (GRCm39) V182I probably benign Het
Pcdhgb4 T C 18: 37,854,697 (GRCm39) I364T probably damaging Het
Pdik1l A G 4: 134,011,580 (GRCm39) S164P probably damaging Het
Pfas A T 11: 68,881,871 (GRCm39) I938N probably benign Het
Plscr1l1 G A 9: 92,234,721 (GRCm39) C152Y possibly damaging Het
Prdm4 TCTCCTCCT TCTCCT 10: 85,728,987 (GRCm39) probably null Het
Prob1 C T 18: 35,787,079 (GRCm39) V392M possibly damaging Het
Rasgrf1 T C 9: 89,793,624 (GRCm39) S134P possibly damaging Het
Rorb T A 19: 18,955,301 (GRCm39) Y20F probably damaging Het
Rsph9 G T 17: 46,445,909 (GRCm39) D220E probably damaging Het
Safb2 C A 17: 56,882,630 (GRCm39) K334N possibly damaging Het
Sall3 T C 18: 81,016,027 (GRCm39) T634A probably benign Het
Scaf1 A G 7: 44,657,007 (GRCm39) probably benign Het
Slco1a5 T A 6: 142,221,255 (GRCm39) probably benign Het
Spata21 C T 4: 140,824,210 (GRCm39) R158C probably benign Het
Srrm2 G A 17: 24,038,311 (GRCm39) probably benign Het
Stk38l C A 6: 146,659,998 (GRCm39) T10N probably benign Het
Supv3l1 G A 10: 62,266,371 (GRCm39) P602S possibly damaging Het
Timm44 C T 8: 4,316,769 (GRCm39) probably null Het
Tll2 T A 19: 41,093,420 (GRCm39) R465S possibly damaging Het
Tmem104 G A 11: 115,095,950 (GRCm39) A164T probably damaging Het
Tmem151b A G 17: 45,856,526 (GRCm39) S305P probably damaging Het
Utrn T C 10: 12,625,839 (GRCm39) D114G probably damaging Het
Vmn2r109 A T 17: 20,760,933 (GRCm39) M808K possibly damaging Het
Washc2 T A 6: 116,225,056 (GRCm39) D801E possibly damaging Het
Xkr4 T C 1: 3,286,751 (GRCm39) I480V probably benign Het
Zfp507 G T 7: 35,475,663 (GRCm39) S58* probably null Het
Zfp768 T A 7: 126,943,804 (GRCm39) D108V possibly 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
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
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'- CTTAAGCCAGTCCTGTACAGC -3'
(R):5'- GGCCAAATGGTAAGACACACTC -3'

Sequencing Primer
(F):5'- TGTACAGCTCCGAAAGACTTG -3'
(R):5'- CTTTTCACAATTAGAAGGGCCAGG -3'
Posted On 2016-10-26