Incidental Mutation 'R0398:Jak2'
ID 32167
Institutional Source Beutler Lab
Gene Symbol Jak2
Ensembl Gene ENSMUSG00000024789
Gene Name Janus kinase 2
Synonyms C81284
MMRRC Submission 038603-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0398 (G1)
Quality Score 182
Status Validated
Chromosome 19
Chromosomal Location 29229228-29290480 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29259788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 229 (I229N)
Ref Sequence ENSEMBL: ENSMUSP00000064394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025705] [ENSMUST00000065796]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000025705
AA Change: I229N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025705
Gene: ENSMUSG00000024789
AA Change: I229N

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 possibly damaging
Transcript: ENSMUST00000065796
AA Change: I229N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000064394
Gene: ENSMUSG00000024789
AA Change: I229N

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.8%
  • 20x: 83.2%
Validation Efficiency 100% (81/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,117,010 (GRCm39) Q546R probably null Het
Acr T G 15: 89,458,144 (GRCm39) V275G probably damaging Het
Adam5 A G 8: 25,303,448 (GRCm39) Y160H probably benign Het
Adcy5 T A 16: 35,089,438 (GRCm39) M545K probably damaging Het
Aoc2 A G 11: 101,216,379 (GRCm39) E154G possibly damaging Het
Atg2a T G 19: 6,296,608 (GRCm39) L338R probably damaging Het
Atp2a1 T C 7: 126,049,590 (GRCm39) probably benign Het
Bbs7 A G 3: 36,644,866 (GRCm39) S436P probably benign Het
Bpnt1 T C 1: 185,070,355 (GRCm39) Y16H probably benign Het
Cbll1 A T 12: 31,542,091 (GRCm39) F90Y probably damaging Het
Cbs G T 17: 31,836,216 (GRCm39) Q411K probably benign Het
Cdca2 A C 14: 67,935,411 (GRCm39) F435V probably damaging Het
Cdh13 T G 8: 120,040,786 (GRCm39) S664A probably damaging Het
Cdk17 T A 10: 93,073,702 (GRCm39) V438E probably benign Het
Cep295 T C 9: 15,266,032 (GRCm39) D40G possibly damaging Het
Col6a1 T C 10: 76,545,952 (GRCm39) H840R unknown Het
Cpa1 A G 6: 30,645,250 (GRCm39) T409A probably benign Het
Crlf1 G A 8: 70,951,739 (GRCm39) probably benign Het
E2f2 T A 4: 135,907,855 (GRCm39) I184N probably damaging Het
Ehbp1 T C 11: 22,045,886 (GRCm39) D596G probably damaging Het
Elapor2 A G 5: 9,495,367 (GRCm39) R724G probably benign Het
Ets2 A G 16: 95,517,267 (GRCm39) Y333C probably damaging Het
Fam178b A G 1: 36,671,487 (GRCm39) probably benign Het
Fndc3b A G 3: 27,515,928 (GRCm39) V626A probably benign Het
Gart G T 16: 91,436,337 (GRCm39) A140E probably damaging Het
Gbp7 T C 3: 142,251,274 (GRCm39) S477P possibly damaging Het
Gm16380 T C 9: 53,791,453 (GRCm39) noncoding transcript Het
Hmcn1 C A 1: 150,674,565 (GRCm39) R579M possibly damaging Het
Hoxb8 A C 11: 96,173,937 (GRCm39) H50P probably damaging Het
Hspa4 C T 11: 53,163,706 (GRCm39) probably null Het
Hspa4l G A 3: 40,711,429 (GRCm39) probably benign Het
Hyal4 A T 6: 24,756,670 (GRCm39) Y296F probably damaging Het
Igsf8 C A 1: 172,145,066 (GRCm39) T131K probably damaging Het
Ilvbl C T 10: 78,415,373 (GRCm39) P298L probably damaging Het
Kif1b T C 4: 149,288,688 (GRCm39) D1205G possibly damaging Het
Lrrc63 T C 14: 75,363,910 (GRCm39) R74G probably benign Het
Lvrn A G 18: 47,013,760 (GRCm39) T481A probably benign Het
Macf1 T A 4: 123,244,810 (GRCm39) T7312S probably damaging Het
Magel2 C T 7: 62,030,299 (GRCm39) Q1068* probably null Het
Mrpl3 A G 9: 104,941,302 (GRCm39) Y203C probably damaging Het
Nek2 T A 1: 191,559,473 (GRCm39) I326N probably benign Het
Nlrc4 A C 17: 74,752,915 (GRCm39) N489K probably damaging Het
Nlrp4f A T 13: 65,342,732 (GRCm39) S304R possibly damaging Het
Ogfr C G 2: 180,235,492 (GRCm39) R189G probably damaging Het
Or52b4i T A 7: 102,191,899 (GRCm39) L252H probably damaging Het
Or5p78 T A 7: 108,212,162 (GRCm39) I216N probably benign Het
Or5w8 A T 2: 87,688,401 (GRCm39) N294I probably damaging Het
Orm3 A G 4: 63,275,885 (GRCm39) S145G probably benign Het
Pclo A G 5: 14,731,716 (GRCm39) E3406G unknown Het
Pcx T G 19: 4,651,638 (GRCm39) F4C probably benign Het
Pgd C A 4: 149,238,339 (GRCm39) G364V probably damaging Het
Pla2g12a C A 3: 129,684,045 (GRCm39) D102E probably benign Het
Pnpo A T 11: 96,833,253 (GRCm39) C82* probably null Het
Prdm1 T C 10: 44,315,805 (GRCm39) N792S probably damaging Het
Prim2 A T 1: 33,523,757 (GRCm39) probably benign Het
Proca1 C A 11: 78,096,094 (GRCm39) P242Q probably benign Het
Psmc5 A G 11: 106,152,370 (GRCm39) N129S probably benign Het
Ptchd4 A G 17: 42,688,150 (GRCm39) T231A possibly damaging Het
Qrfpr C T 3: 36,235,201 (GRCm39) probably benign Het
Rab44 G A 17: 29,364,344 (GRCm39) probably benign Het
Racgap1 T C 15: 99,526,508 (GRCm39) probably benign Het
Rapgef4 A G 2: 71,861,385 (GRCm39) E25G probably damaging Het
Rpl8 G C 15: 76,789,246 (GRCm39) probably benign Het
Samd12 G A 15: 53,583,116 (GRCm39) P73S possibly damaging Het
Samd9l T A 6: 3,374,502 (GRCm39) N920Y probably damaging Het
Sdk1 T C 5: 141,948,476 (GRCm39) V607A probably benign Het
Slc25a19 A G 11: 115,508,401 (GRCm39) Y196H probably damaging Het
Slc39a3 A T 10: 80,869,621 (GRCm39) M12K possibly damaging Het
Slc5a4a T C 10: 76,018,556 (GRCm39) I501T possibly damaging Het
Sp4 A T 12: 118,262,408 (GRCm39) V546D possibly damaging Het
Ssh3 C T 19: 4,313,727 (GRCm39) V511M possibly damaging Het
Stard9 T G 2: 120,526,788 (GRCm39) V1015G probably benign Het
Thoc5 G T 11: 4,871,978 (GRCm39) V516F possibly damaging Het
Ttc21a T A 9: 119,783,628 (GRCm39) I570N probably damaging Het
Ttc4 T C 4: 106,524,770 (GRCm39) probably null Het
Ugt1a1 AT A 1: 88,140,093 (GRCm39) probably null Het
Yipf3 A G 17: 46,562,411 (GRCm39) E298G possibly damaging Het
Zbtb34 C A 2: 33,301,060 (GRCm39) E494* probably null Het
Zfhx3 A G 8: 109,677,878 (GRCm39) Y2976C 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
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
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'- ACTGTGTTGTCACCAAGAGAATGCC -3'
(R):5'- ACCACTGAATTCCACCGTTTCCAG -3'

Sequencing Primer
(F):5'- GAATGCCTATCAAATGAGAATGCC -3'
(R):5'- TATAATGGTTGCAAAAATCTCCTCAC -3'
Posted On 2013-04-24