Mutagenetix > Incidental Mutation

Incidental Mutation 'R3908:Jak2'

310308

Institutional Source

Beutler Lab

Gene Symbol

Jak2

Ensembl Gene

ENSMUSG00000024789

Gene Name

Janus kinase 2

Synonyms

C81284

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3908 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29229228-29290480 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29268673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 583 (L583Q)

Ref Sequence

ENSEMBL: ENSMUSP00000064394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025705] [ENSMUST00000065796]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000025705
AA Change: L583Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025705
Gene: ENSMUSG00000024789
AA Change: L583Q

Domain	Start	End	E-Value	Type
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: L583Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064394
Gene: ENSMUSG00000024789
AA Change: L583Q

Domain	Start	End	E-Value	Type
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: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,067,151 (GRCm39)	V1352A	possibly damaging	Het
Abcb7	G	T	X: 103,327,765 (GRCm39)	Q715K	probably benign	Het
Adamts3	C	A	5: 90,009,214 (GRCm39)	G150C	probably damaging	Het
Cacng1	C	A	11: 107,607,118 (GRCm39)	V34L	probably benign	Het
Ddi2	T	C	4: 141,411,592 (GRCm39)	D440G	probably benign	Het
Esp34	A	G	17: 38,870,532 (GRCm39)	D74G	possibly damaging	Het
Fanci	T	C	7: 79,083,257 (GRCm39)	V748A	possibly damaging	Het
Fat1	G	C	8: 45,476,072 (GRCm39)	R1706T	probably benign	Het
Hspa1a	C	T	17: 35,190,703 (GRCm39)	V67M	probably damaging	Het
Il22	C	T	10: 118,041,529 (GRCm39)	R81*	probably null	Het
Kcnj4	G	T	15: 79,369,946 (GRCm39)	H11Q	probably benign	Het
Kif11	A	G	19: 37,379,169 (GRCm39)	I287V	probably damaging	Het
Lasp1	G	A	11: 97,690,653 (GRCm39)	V12M	probably damaging	Het
Matr3	C	T	18: 35,705,894 (GRCm39)	P273L	probably damaging	Het
Mpp4	T	A	1: 59,188,196 (GRCm39)	H183L	probably damaging	Het
Myh10	T	C	11: 68,661,885 (GRCm39)		probably null	Het
Or52h7	T	C	7: 104,213,848 (GRCm39)	I140T	probably benign	Het
Ppp1r12b	A	G	1: 134,770,470 (GRCm39)	S617P	probably damaging	Het
Psmb1	T	C	17: 15,710,543 (GRCm39)	Y2C	probably damaging	Het
Pwwp3a	T	C	10: 80,074,150 (GRCm39)	V401A	probably damaging	Het
Serpinb9f	A	G	13: 33,511,919 (GRCm39)	T141A	probably damaging	Het
Slc38a4	T	C	15: 96,910,875 (GRCm39)		probably null	Het
Vmn2r9	C	A	5: 108,995,785 (GRCm39)	A288S	probably benign	Het
Zbtb12	A	T	17: 35,115,244 (GRCm39)		probably null	Het

Other mutations in Jak2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GAGAATTTCGAACCTCAAATTTAGGTT -3'
(R):5'- GGATCATAATGAAACCTATCTTATGCA -3'

Sequencing Primer
(F):5'- GTCTTGGCCAAGGTACTT -3'
(R):5'- CATACACTTGCAGAGTGTA -3'

Posted On

2015-04-17